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MOUSE:CAC1A

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Cacna1a (synonyms: Caca1a, Cach4, Cacn3, Cacnl1a4, Ccha1a)
Protein Name(s) Voltage-dependent P/Q-type calcium channel subunit alpha-1A

Brain calcium channel I BI Calcium channel, L type, alpha-1 polypeptide isoform 4 Voltage-gated calcium channel subunit alpha Cav2.1

External Links
UniProt P97445
EMBL AY714490
U76716
CCDS CCDS52618.1
RefSeq NP_031604.3
UniGene Mm.334658
ProteinModelPortal P97445
SMR P97445
BioGrid 198430
IntAct P97445
MINT MINT-4997013
PhosphoSite P97445
MaxQB P97445
PaxDb P97445
PRIDE P97445
Ensembl ENSMUST00000121390
GeneID 12286
KEGG mmu:12286
UCSC uc009mmn.2
CTD 773
MGI MGI:109482
eggNOG COG1226
GeneTree ENSGT00760000118827
HOGENOM HOG000231530
HOVERGEN HBG050763
InParanoid P97445
KO K04344
OMA QPGFWEG
OrthoDB EOG7T1RBQ
PhylomeDB P97445
TreeFam TF312805
Reactome REACT_225645
REACT_263148
ChiTaRS Cacna1a
NextBio 280756
PRO PR:P97445
Proteomes UP000000589
Bgee P97445
ExpressionAtlas P97445
Genevestigator P97445
GO GO:0005737
GO:0030425
GO:0043025
GO:0005634
GO:0005891
GO:0003677
GO:0008331
GO:0046872
GO:0005245
GO:0007628
GO:0048266
GO:0070509
GO:0006816
GO:0017156
GO:0048791
GO:0008219
GO:0016049
GO:0030644
GO:0021953
GO:0021679
GO:0021702
GO:0021680
GO:0021590
GO:0048813
GO:0014051
GO:0007214
GO:0006006
GO:0042445
GO:0051899
GO:0086010
GO:0050883
GO:0032353
GO:0043524
GO:0050877
GO:0050905
GO:0050885
GO:0007274
GO:0007270
GO:0042133
GO:0007204
GO:0043113
GO:0014056
GO:0050770
GO:0017158
GO:0042391
GO:0048265
GO:0060024
GO:0021522
GO:0000096
GO:0007416
GO:0007268
GO:0035249
GO:0019226
GO:0021750
Gene3D 1.20.120.350
InterPro IPR017956
IPR027359
IPR005821
IPR014873
IPR005448
IPR002077
PANTHER PTHR10037:SF59
Pfam PF08763
PF00520
PRINTS PR00167
PR01632
SMART SM00384
SM01062

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

enables

GO:0008331

high voltage-gated calcium channel activity

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O00555

F

Seeded From UniProt

complete

involved_in

GO:0070588

calcium ion transmembrane transport

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O00555

P

Seeded From UniProt

complete

involved_in

GO:0007204

positive regulation of cytosolic calcium ion concentration

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O00555

P

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O00555

F

Seeded From UniProt

complete

enables

GO:0099626

voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels

PMID:25741235[1]

ECO:0006013

patch-clamp recording evidence used in manual assertion

F

  • occurs_in:(GO:0098978)
  • occurs_in:(UBERON:0000061)
  • occurs_in:(UBERON:0000956)

Seeded From UniProt

complete

enables

GO:0099626

voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels

PMID:25741235[1]

ECO:0001225

knockout evidence used in manual assertion

F

  • occurs_in:(GO:0098978)
  • occurs_in:(UBERON:0000061)
  • occurs_in:(UBERON:0000956)

Seeded From UniProt

complete

part_of

GO:0098978

glutamatergic synapse

PMID:25741235[1]

ECO:0006013

patch-clamp recording evidence used in manual assertion

C

  • part_of:(UBERON:0000061)
  • part_of:(UBERON:0000956)

Seeded From UniProt

complete

part_of

GO:0098978

glutamatergic synapse

PMID:25741235[1]

ECO:0001225

knockout evidence used in manual assertion

C

  • part_of:(UBERON:0000061)
  • part_of:(UBERON:0000956)

Seeded From UniProt

complete

involved_in

GO:0070509

calcium ion import

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001295314
RGD:2244
RGD:2245
RGD:2246
RGD:628852
RGD:70973
UniProtKB:Q01668

P

Seeded From UniProt

complete

involved_in

GO:0007268

chemical synaptic transmission

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0263111
MGI:MGI:109482
PANTHER:PTN000004141
RGD:2244

P

Seeded From UniProt

complete

involved_in

GO:0006816

calcium ion transport

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0263111
MGI:MGI:103013
MGI:MGI:106217
MGI:MGI:109482
MGI:MGI:88294
MGI:MGI:88296
PANTHER:PTN001295293
RGD:2244
RGD:2245
RGD:628852
RGD:70973
RGD:70983
SGD:S000003449
UniProtKB:Q01668
UniProtKB:Q13698
ZFIN:ZDB-GENE-020129-1

P

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

PMID:21873635[2]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0001991
FB:FBgn0263111
MGI:MGI:103013
MGI:MGI:106217
MGI:MGI:109482
MGI:MGI:1859639
MGI:MGI:88294
MGI:MGI:88296
PANTHER:PTN001295314
RGD:2244
RGD:2245
RGD:2246
RGD:628852
RGD:70973
UniProtKB:O00555
UniProtKB:O60840
UniProtKB:Q01668
UniProtKB:Q13698
UniProtKB:Q13936
UniProtKB:Q15878
WB:WBGene00001187

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:1904646

cellular response to amyloid-beta

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:1904645

response to amyloid-beta

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:1901385

regulation of voltage-gated calcium channel activity

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

P

Seeded From UniProt

complete

part_of

GO:0099059

integral component of presynaptic active zone membrane

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0070588

calcium ion transmembrane transport

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0070509

calcium ion import

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060024

rhythmic synaptic transmission

PMID:16474392[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0051899

membrane depolarization

PMID:8158221[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

  • occurs_in:(EMAPA:32770)
  • occurs_in:(CL:0000598)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0051899

membrane depolarization

PMID:11718712[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

P

  • occurs_in:(EMAPA:16668)
  • occurs_in:(CL:0000540)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0051899

membrane depolarization

PMID:10908603[6]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050905

neuromuscular process

PMID:10630211[7]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:2159437

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050905

neuromuscular process

PMID:11344116[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2180190

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050885

neuromuscular process controlling balance

PMID:4799944[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050883

musculoskeletal movement, spinal reflex action

PMID:11718712[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

P

has_participant:(EMAPA:16668)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050877

nervous system process

PMID:6462226[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

has_participant:(EMAPA:17787)|has_participant:(EMAPA:32678)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050877

nervous system process

PMID:1486501[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

has_participant:(EMAPA:32673)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050804

modulation of chemical synaptic transmission

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0050770

regulation of axonogenesis

PMID:572084[12]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

  • regulates_o_occurs_in:(EMAPA:35502)
  • regulates_o_occurs_in:(CL:0000459)|regulates_o_occurs_in:(EMAPA:35502)
  • regulates_o_occurs_in:(CL:0000117)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048813

dendrite morphogenesis

PMID:14973254[13]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048813

dendrite morphogenesis

PMID:11160387[14]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2154404

P

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048813

dendrite morphogenesis

PMID:10336181[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048791

calcium ion-regulated exocytosis of neurotransmitter

PMID:10670432[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

  • occurs_in:(EMAPA:17544)
  • occurs_in:(CL:0000117)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048266

behavioral response to pain

PMID:16890369[17]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2180190

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048265

response to pain

PMID:11718712[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

P

has_participant:(EMAPA:16668)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0043524

negative regulation of neuron apoptotic process

PMID:8929530[18]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

  • occurs_in:(EMAPA:35223)
  • regulates_o_occurs_in:(CL:0000121)|occurs_in(EMAPA:35219)
  • regulates_o_occurs_in:(CL:0000120)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0043524

negative regulation of neuron apoptotic process

PMID:4941467[19]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856210

P

  • occurs_in:(EMAPA:35223)
  • regulates_o_occurs_in:(CL:0000121)

Seeded From UniProt

complete

part_of

GO:0043204

perikaryon

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0043113

receptor clustering

PMID:12624181[20]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

Seeded From UniProt

complete

part_of

GO:0043025

neuronal cell body

PMID:15451373[21]

ECO:0000314

direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:35794)
  • part_of:(CL:0000100)

Seeded From UniProt

complete

part_of

GO:0043025

neuronal cell body

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

C

Seeded From UniProt

complete

part_of

GO:0042995

cell projection

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042593

glucose homeostasis

PMID:8957685[22]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

has_participant:(EMAPA:16896)|has_participant:(EMAPA:35297)|has_participant:(EMAPA:35478)|has_participant:(EMAPA:32869)|has_participant:(EMAPA:32678)|has_participant:(EMAPA:35835)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042391

regulation of membrane potential

PMID:9857013[23]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856210

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042391

regulation of membrane potential

PMID:9614225[24]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042391

regulation of membrane potential

PMID:1572065[25]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042391

regulation of membrane potential

PMID:1355109[26]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042391

regulation of membrane potential

PMID:12401561[27]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042391

regulation of membrane potential

PMID:12151514[28]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0042391

regulation of membrane potential

PMID:10670432[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0035249

synaptic transmission, glutamatergic

PMID:14973254[13]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0035249

synaptic transmission, glutamatergic

PMID:10322048[29]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

occurs_in:(EMAPA:17540)

Seeded From UniProt

complete

part_of

GO:0032991

protein-containing complex

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0032353

negative regulation of hormone biosynthetic process

PMID:11182254[30]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0031335

regulation of sulfur amino acid metabolic process

PMID:1485534[31]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

occurs_in:(EMAPA:17787)|occurs_in:(EMAPA:18207)|occurs_in:(EMAPA:32845)|occurs_in:(EMAPA:17544)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0030644

cellular chloride ion homeostasis

PMID:8565963[32]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

occurs_in:(EMAPA:16894)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0030644

cellular chloride ion homeostasis

PMID:10899223[33]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

P

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

part_of

GO:0030425

dendrite

PMID:15451373[21]

ECO:0000314

direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:35794)
  • part_of:(CL:0000100)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021953

central nervous system neuron differentiation

PMID:6945603[34]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

  • occurs_in:(EMAPA:35502)
  • results_in_acquisition_of_features_of:(CL:0000459)|occurs_in(EMAPA:35502)
  • results_in_acquisition_of_features_of:(CL:0000117)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021750

vestibular nucleus development

PMID:8719615[35]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021702

cerebellar Purkinje cell differentiation

PMID:7834360[36]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

P

  • occurs_in:(EMAPA:35223)
  • results_in_acquisition_of_features_of:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021702

cerebellar Purkinje cell differentiation

PMID:1306163[37]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856210

P

  • occurs_in:(EMAPA:35223)
  • results_in_acquisition_of_features_of:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021702

cerebellar Purkinje cell differentiation

PMID:10630211[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

  • occurs_in:(EMAPA:17787)
  • results_in_acquisition_of_features_of:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021680

cerebellar Purkinje cell layer development

PMID:1306163[37]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856210

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021679

cerebellar molecular layer development

PMID:7697385[38]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856210

P

results_in_development_of:(EMAPA:35221)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021590

cerebellum maturation

PMID:11344116[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2180190

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0021522

spinal cord motor neuron differentiation

PMID:17156092[39]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856211

P

  • occurs_in:(EMAPA:17577)
  • results_in_acquisition_of_features_of:(CL:0000100)

Seeded From UniProt

complete

enables

GO:0019905

syntaxin binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0019233

sensory perception of pain

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0019226

transmission of nerve impulse

PMID:1572065[25]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0019226

transmission of nerve impulse

PMID:1469420[40]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0019226

transmission of nerve impulse

PMID:1355109[26]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0017158

regulation of calcium ion-dependent exocytosis

PMID:8632762[41]

ECO:0000314

direct assay evidence used in manual assertion

P

regulates_o_occurs_in:(CL:0000336)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0017156

calcium ion regulated exocytosis

PMID:12065603[42]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

occurs_in:(CL:0000166)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0014056

regulation of acetylcholine secretion, neurotransmission

PMID:12624181[20]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

  • regulates_o_occurs_in:(EMAPA:17701)
  • regulates_o_occurs_in:(CL:0000100)|regulates_o_occurs_in:(EMAPA:17813)
  • regulates_o_occurs_in:(CL:0000100)|regulates_o_occurs_in:(EMAPA:36627)
  • regulates_o_occurs_in:(CL:0000100)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0014056

regulation of acetylcholine secretion, neurotransmission

PMID:10686170[43]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

  • regulates_o_occurs_in:(EMAPA:17813)
  • regulates_o_occurs_in:(CL:0000100)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0014051

gamma-aminobutyric acid secretion

PMID:10670432[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

  • occurs_in:(EMAPA:17544)
  • occurs_in:(CL:0000117)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0010817

regulation of hormone levels

PMID:8957685[22]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

  • occurs_in:(EMAPA:17787)
  • has_input:(MGI:MGI:98823)|occurs_in(EMAPA:32678)
  • has_input:(MGI:MGI:98823)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0010817

regulation of hormone levels

PMID:8229069[44]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

  • occurs_in:(EMAPA:17577)
  • has_input:(MGI:MGI:98823)

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:11756409[45]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:102522

F

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:9742139[46]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

F

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:15548652[47]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

F

occurs_in:(EMAPA:35840)

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:12624181[20]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

F

  • occurs_in:(EMAPA:17701)
  • occurs_in:(CL:0000100)|occurs_in:(EMAPA:17813)
  • occurs_in:(CL:0000100)|occurs_in:(EMAPA:36627)
  • occurs_in:(CL:0000100)

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:12401561[27]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

F

  • occurs_in:(EMAPA:35211)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:12065603[42]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

F

occurs_in:(CL:0000166)

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:12040045[48]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856211

F

  • occurs_in:(EMAPA:35211)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:11718712[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

F

  • occurs_in:(EMAPA:16668)
  • occurs_in:(CL:0000540)

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:11344116[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2180190

F

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000120)

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

PMID:10908603[6]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

F

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

F

Seeded From UniProt

complete

enables

GO:0008331

high voltage-gated calcium channel activity

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0008219

cell death

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:9882694[49]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:103013

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:8719807[50]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:98823

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:8719807[50]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:4941467[19]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856210

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:4799944[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:16890369[17]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2180190

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:13950100[51]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:12401561[27]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:11344116[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2180190

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:11160387[14]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2154404

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007628

adult walking behavior

PMID:10611370[52]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007416

synapse assembly

PMID:14973254[13]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007416

synapse assembly

PMID:10336181[15]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007274

neuromuscular synaptic transmission

PMID:10686170[43]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

occurs_in:(EMAPA:17813)|occurs_in:(EMAPA:17701)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007270

neuron-neuron synaptic transmission

PMID:16540584[53]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007268

chemical synaptic transmission

PMID:15548652[47]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

occurs_in:(EMAPA:35600)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007268

chemical synaptic transmission

PMID:12040045[48]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856211

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007268

chemical synaptic transmission

PMID:10611370[52]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

P

occurs_in:(EMAPA:32768)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007268

chemical synaptic transmission

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007214

gamma-aminobutyric acid signaling pathway

PMID:8565963[32]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

occurs_in:(EMAPA:16894)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007204

positive regulation of cytosolic calcium ion concentration

PMID:8632762[41]

ECO:0000314

direct assay evidence used in manual assertion

P

regulates_o_occurs_in:(CL:0000336)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007204

positive regulation of cytosolic calcium ion concentration

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006816

calcium ion transport

PMID:9857013[23]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856210

P

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006816

calcium ion transport

PMID:9614225[24]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

P

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006816

calcium ion transport

PMID:12827191[54]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006816

calcium ion transport

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

P

Seeded From UniProt

complete

part_of

GO:0005891

voltage-gated calcium channel complex

PMID:10328888[55]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005891

voltage-gated calcium channel complex

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

C

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

C

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

C

Seeded From UniProt

complete

enables

GO:0005516

calmodulin binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

F

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

PMID:9857013[23]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209
MGI:MGI:1856210

F

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

PMID:9614225[24]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856210

F

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

PMID:12827191[54]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

PMID:12151514[28]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

F

  • occurs_in:(EMAPA:17540)
  • occurs_in:(CL:0000117)

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

PMID:10611370[52]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:2181384

F

  • occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000121)|occurs_in:(EMAPA:17787)
  • occurs_in:(CL:0000120)

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

PMID:8632762[41]

ECO:0000314

direct assay evidence used in manual assertion

F

occurs_in:(CL:0000336)

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O00555

F

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:2244

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0001505

regulation of neurotransmitter levels

PMID:8100981[56]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

  • occurs_in:(EMAPA:17787)
  • has_participant:(MGI:MGI:88297)|occurs_in(EMAPA:17787)
  • has_participant:(MGI:MGI:98326)|occurs_in(EMAPA:16910)
  • has_participant:(MGI:MGI:88297)|occurs_in(EMAPA:16910)
  • has_participant:(MGI:MGI:98326)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0001505

regulation of neurotransmitter levels

PMID:6167317[57]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856211

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0001505

regulation of neurotransmitter levels

PMID:1686215[58]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856209

P

  • occurs_in:(EMAPA:17544)
  • has_participant:(MGI:MGI:104629)|occurs_in(EMAPA:17549)
  • has_participant:(MGI:MGI:104629)|occurs_in(EMAPA:17563)
  • has_participant:(MGI:MGI:104629)|occurs_in(EMAPA:17550)
  • has_participant:(MGI:MGI:104629)

Seeded From UniProt

complete

involved_in

GO:0099509

regulation of presynaptic cytosolic calcium ion concentration

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0099626

P

Seeded From UniProt

complete

involved_in

GO:0099509

regulation of presynaptic cytosolic calcium ion concentration

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0099626

P

Seeded From UniProt

complete

enables

GO:0005216

ion channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

F

Seeded From UniProt

complete

enables

GO:0005245

voltage-gated calcium channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002077
InterPro:IPR005448

F

Seeded From UniProt

complete

part_of

GO:0005891

voltage-gated calcium channel complex

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002077
InterPro:IPR005448

C

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

C

Seeded From UniProt

complete

involved_in

GO:0055085

transmembrane transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

P

Seeded From UniProt

complete

involved_in

GO:0070588

calcium ion transmembrane transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002077
InterPro:IPR005448

P

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0406

P

Seeded From UniProt

complete

enables

GO:0005262

calcium channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0107

F

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1003
UniProtKB-SubCell:SL-0039

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

involved_in

GO:0034765

regulation of ion transmembrane transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

P

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0479

F

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

involved_in

GO:0006816

calcium ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0109

P

Seeded From UniProt

complete

involved_in

GO:0070588

calcium ion transmembrane transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0107

P

Seeded From UniProt

complete

enables

GO:0005244

voltage-gated ion channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

F

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 1.2 1.3 Vecchia, D et al. (2015) Abnormal cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans. Front Cell Neurosci 9 8 PubMed GONUTS page
  2. 2.0 2.1 2.2 2.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  3. Walter, JT et al. (2006) Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia. Nat. Neurosci. 9 389-97 PubMed GONUTS page
  4. Helekar, SA & Noebels, JL (1994) Analysis of voltage-gated and synaptic conductances contributing to network excitability defects in the mutant mouse tottering. J. Neurophysiol. 71 1-10 PubMed GONUTS page
  5. 5.0 5.1 5.2 5.3 Ogasawara, M et al. (2001) Characterization of acute somatosensory pain transmission in P/Q-type Ca(2+) channel mutant mice, leaner. FEBS Lett. 508 181-6 PubMed GONUTS page
  6. 6.0 6.1 Mori, Y et al. (2000) Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol)). J. Neurosci. 20 5654-62 PubMed GONUTS page
  7. 7.0 7.1 Campbell, DB et al. (1999) Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background. Exp. Neurol. 160 268-78 PubMed GONUTS page
  8. 8.0 8.1 8.2 8.3 Fletcher, CF et al. (2001) Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity. FASEB J. 15 1288-90 PubMed GONUTS page
  9. 9.0 9.1 Oda, S (1973) [The observation of rolling mouse Nagoya (rol), a new neurological mutant, and its maintenance (author's transl)]. Jikken Dobutsu 22 281-8 PubMed GONUTS page
  10. Noebels, JL () A single gene error of noradrenergic axon growth synchronizes central neurones. Nature 310 409-11 PubMed GONUTS page
  11. Yamaguchi, T et al. (1992) Rolling mouse Nagoya as a mutant animal model of basal ganglia dysfunction: determination of absolute rates of local cerebral glucose utilization. Brain Res. 598 38-44 PubMed GONUTS page
  12. Noebels, JL & Sidman, RL (1979) Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering. Science 204 1334-6 PubMed GONUTS page
  13. 13.0 13.1 13.2 Miyazaki, T et al. (2004) P/Q-type Ca2+ channel alpha1A regulates synaptic competition on developing cerebellar Purkinje cells. J. Neurosci. 24 1734-43 PubMed GONUTS page
  14. 14.0 14.1 Zwingman, TA et al. (2001) Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a. J. Neurosci. 21 1169-78 PubMed GONUTS page
  15. 15.0 15.1 Rhyu, IJ et al. (1999) Morphologic investigation of rolling mouse Nagoya (tg(rol)/tg(rol)) cerebellar Purkinje cells: an ataxic mutant, revisited. Neurosci. Lett. 266 49-52 PubMed GONUTS page
  16. 16.0 16.1 16.2 Ayata, C et al. (2000) Impaired neurotransmitter release and elevated threshold for cortical spreading depression in mice with mutations in the alpha1A subunit of P/Q type calcium channels. Neuroscience 95 639-45 PubMed GONUTS page
  17. 17.0 17.1 Luvisetto, S et al. (2006) Pain sensitivity in mice lacking the Ca(v)2.1alpha1 subunit of P/Q-type Ca2+ channels. Neuroscience 142 823-32 PubMed GONUTS page
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