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HUMAN:SCN1B

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) SCN1B
Protein Name(s) Sodium channel subunit beta-1
External Links
UniProt Q07699
EMBL L10338
L16242
U12193
U12189
U12190
U12191
U12192
AY391842
AK313279
DQ677665
BT019923
AC020907
BC067122
CCDS CCDS12441.1
CCDS46047.1
PIR A55734
RefSeq NP_001028.1
NP_950238.1
UniGene Hs.436646
ProteinModelPortal Q07699
SMR Q07699
BioGrid 112229
STRING 9606.ENSP00000396915
DrugBank DB00313
DB00909
PhosphoSite Q07699
DMDM 1705868
PaxDb Q07699
PRIDE Q07699
DNASU 6324
Ensembl ENST00000262631
ENST00000415950
GeneID 6324
KEGG hsa:6324
UCSC uc002nxo.2
uc002nxp.3
CTD 6324
GeneCards GC19P035521
GeneReviews SCN1B
HGNC HGNC:10586
MIM 600235
604233
612838
615377
neXtProt NX_Q07699
Orphanet 130
33069
334
871
36387
PharmGKB PA302
eggNOG NOG45207
GeneTree ENSGT00390000018560
HOGENOM HOG000276881
HOVERGEN HBG056582
InParanoid Q07699
KO K04845
OMA ISCKKRS
OrthoDB EOG7M3J19
PhylomeDB Q07699
TreeFam TF332097
Reactome REACT_22266
GeneWiki SCN1B
GenomeRNAi 6324
NextBio 24542
PMAP-CutDB Q07699
PRO PR:Q07699
Proteomes UP000005640
Bgee Q07699
CleanEx HS_SCN1B
ExpressionAtlas Q07699
Genevestigator Q07699
GO GO:0005576
GO:0014704
GO:0033268
GO:0030315
GO:0001518
GO:0019871
GO:0017080
GO:0005248
GO:0086006
GO:0086062
GO:0007411
GO:0061337
GO:0086002
GO:0060048
GO:0007155
GO:0021966
GO:0040011
GO:0051899
GO:0086012
GO:0086047
GO:0019227
GO:0010976
GO:0010765
GO:0060371
GO:0086091
GO:2000649
GO:0060307
GO:0046684
GO:0035725
GO:0007268
Gene3D 2.60.40.10
InterPro IPR013783
IPR013151
IPR027098
PANTHER PTHR10546
Pfam PF00047

Annotations

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

enables

GO:0017080

sodium channel regulator activity

PMID:19710327[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

PMID:19710327[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0017080

sodium channel regulator activity

PMID:8125980[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0001518

voltage-gated sodium channel complex

PMID:8125980[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

PMID:30190309[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0001518

voltage-gated sodium channel complex

PMID:30190309[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:2000649

regulation of sodium ion transmembrane transporter activity

PMID:19808477[4]

ECO:0000314

direct assay evidence used in manual assertion

P

has_input:(UniProtKB:Q14524)

Seeded From UniProt

complete

involved_in

GO:0086091

regulation of heart rate by cardiac conduction

PMID:19808477[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0086062

voltage-gated sodium channel activity involved in Purkinje myocyte action potential

PMID:18464934[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0086047

membrane depolarization during Purkinje myocyte cell action potential

PMID:18464934[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086012

membrane depolarization during cardiac muscle cell action potential

PMID:17884088[6]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

P

Seeded From UniProt

complete

enables

GO:0086006

voltage-gated sodium channel activity involved in cardiac muscle cell action potential

PMID:19808477[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0086002

cardiac muscle cell action potential involved in contraction

PMID:19808477[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0061337

cardiac conduction

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

P

Seeded From UniProt

complete

involved_in

GO:0060371

regulation of atrial cardiac muscle cell membrane depolarization

PMID:19808477[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060371

regulation of atrial cardiac muscle cell membrane depolarization

PMID:22247482[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060307

regulation of ventricular cardiac muscle cell membrane repolarization

PMID:17884088[6]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

P

Seeded From UniProt

complete

involved_in

GO:0060048

cardiac muscle contraction

PMID:19808477[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051899

membrane depolarization

PMID:21051419[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0040011

locomotion

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

P

Seeded From UniProt

complete

involved_in

GO:0035725

sodium ion transmembrane transport

PMID:18464934[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0035725

sodium ion transmembrane transport

PMID:19808477[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0035725

sodium ion transmembrane transport

PMID:21051419[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0033268

node of Ranvier

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

C

Seeded From UniProt

complete

part_of

GO:0030315

T-tubule

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

C

part_of:(CL:0000746)

Seeded From UniProt

complete

involved_in

GO:0021966

corticospinal neuron axon guidance

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

P

Seeded From UniProt

complete

enables

GO:0019871

sodium channel inhibitor activity

PMID:17884088[6]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

F

Seeded From UniProt

complete

involved_in

GO:0019227

neuronal action potential propagation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

P

Seeded From UniProt

complete

enables

GO:0017080

sodium channel regulator activity

PMID:18464934[5]

ECO:0000314

direct assay evidence used in manual assertion

F

has_direct_input:(UniProtKB:Q14524)

Seeded From UniProt

complete

enables

GO:0017080

sodium channel regulator activity

PMID:19808477[4]

ECO:0000314

direct assay evidence used in manual assertion

F

has_direct_input:(UniProtKB:Q14524)

Seeded From UniProt

complete

part_of

GO:0014704

intercalated disc

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

C

part_of:(CL:0000746)

Seeded From UniProt

complete

involved_in

GO:0010976

positive regulation of neuron projection development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

P

occurs_in:(CL:0001031)

Seeded From UniProt

complete

involved_in

GO:0010765

positive regulation of sodium ion transport

PMID:19808477[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007411

axon guidance

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97952

P

Seeded From UniProt

complete

enables

GO:0005248

voltage-gated sodium channel activity

PMID:19808477[4]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0001518

voltage-gated sodium channel complex

PMID:21051419[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0001518

voltage-gated sodium channel complex

PMID:19808477[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:2000649

regulation of sodium ion transmembrane transporter activity

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002237886
UniProtKB:Q07699
UniProtKB:Q9NY72

P

Seeded From UniProt

complete

involved_in

GO:0086091

regulation of heart rate by cardiac conduction

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000057590
UniProtKB:Q07699
UniProtKB:Q9NY72

P

Seeded From UniProt

complete

involved_in

GO:0086002

cardiac muscle cell action potential involved in contraction

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000057590
UniProtKB:Q07699
UniProtKB:Q9NY72

P

Seeded From UniProt

complete

enables

GO:0044325

ion channel binding

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1918882
PANTHER:PTN002237886
UniProtKB:Q9NY72

F

Seeded From UniProt

complete

enables

GO:0019871

sodium channel inhibitor activity

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:98247
PANTHER:PTN002237886

F

Seeded From UniProt

complete

part_of

GO:0001518

voltage-gated sodium channel complex

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN002237886
RGD:3631
UniProtKB:Q07699
UniProtKB:Q9NY72

C

Seeded From UniProt

complete

involved_in

GO:0086012

membrane depolarization during cardiac muscle cell action potential

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

P

Seeded From UniProt

complete

enables

GO:0086006

voltage-gated sodium channel activity involved in cardiac muscle cell action potential

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

F

Seeded From UniProt

complete

involved_in

GO:0061337

cardiac conduction

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

P

Seeded From UniProt

complete

involved_in

GO:0060307

regulation of ventricular cardiac muscle cell membrane repolarization

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

P

Seeded From UniProt

complete

involved_in

GO:0040011

locomotion

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

P

Seeded From UniProt

complete

involved_in

GO:0035725

sodium ion transmembrane transport

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

P

Seeded From UniProt

complete

part_of

GO:0034706

sodium channel complex

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

C

Seeded From UniProt

complete

part_of

GO:0033268

node of Ranvier

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

C

Seeded From UniProt

complete

part_of

GO:0030315

T-tubule

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

C

Seeded From UniProt

complete

involved_in

GO:0021966

corticospinal neuron axon guidance

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

P

Seeded From UniProt

complete

enables

GO:0019871

sodium channel inhibitor activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

F

Seeded From UniProt

complete

involved_in

GO:0019227

neuronal action potential propagation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

P

Seeded From UniProt

complete

part_of

GO:0014704

intercalated disc

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

C

Seeded From UniProt

complete

involved_in

GO:0010976

positive regulation of neuron projection development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

P

Seeded From UniProt

complete

involved_in

GO:0007411

axon guidance

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97952
ensembl:ENSMUSP00000096148

P

Seeded From UniProt

complete

involved_in

GO:1905150

regulation of voltage-gated sodium channel activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q00954
ensembl:ENSRNOP00000074323

P

Seeded From UniProt

complete

involved_in

GO:0046684

response to pyrethroid

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q00954
ensembl:ENSRNOP00000074323

P

Seeded From UniProt

complete

part_of

GO:0033268

node of Ranvier

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q00954
ensembl:ENSRNOP00000074323

C

Seeded From UniProt

complete

enables

GO:0017080

sodium channel regulator activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q00954
ensembl:ENSRNOP00000074323

F

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q00954
ensembl:ENSRNOP00000074323

C

Seeded From UniProt

complete

involved_in

GO:0002028

regulation of sodium ion transport

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q00954
ensembl:ENSRNOP00000074323

P

Seeded From UniProt

complete

part_of

GO:0001518

voltage-gated sodium channel complex

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q00954
ensembl:ENSRNOP00000074323

C

Seeded From UniProt

complete

part_of

GO:0001518

voltage-gated sodium channel complex

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR027098

C

Seeded From UniProt

complete

involved_in

GO:0006814

sodium ion transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR027098

P

Seeded From UniProt

complete

enables

GO:0017080

sodium channel regulator activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR027098

F

Seeded From UniProt

complete

enables

GO:0017080

sodium channel regulator activity

PMID:14622265[10]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

NOT|enables

GO:0017080

sodium channel regulator activity

PMID:14622265[10]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0035725

sodium ion transmembrane transport

PMID:14622265[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0005248

voltage-gated sodium channel activity

PMID:14622265[10]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0061337

cardiac conduction

Reactome:R-HSA-5576892

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

Reactome:R-HSA-5576895

ECO:0000304

author statement supported by traceable reference used in manual assertion

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

involved_in

GO:0006814

sodium ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0739

P

Seeded From UniProt

complete

part_of

GO:0042995

cell projection

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0966
UniProtKB-SubCell:SL-0280

C

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

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:0005576

extracellular region

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0964
UniProtKB-SubCell:SL-0243

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

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

enables

GO:0005272

sodium channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0894

F

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

involved_in

GO:0007155

cell adhesion

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0130

P

Seeded From UniProt

complete

part_of

GO:0043204

perikaryon

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0197

C

Seeded From UniProt

complete

part_of

GO:0030424

axon

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0279

C

Seeded From UniProt

complete

Notes

References

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

  1. 1.0 1.1 Patino, GA et al. (2009) A functional null mutation of SCN1B in a patient with Dravet syndrome. J. Neurosci. 29 10764-78 PubMed GONUTS page
  2. 2.0 2.1 Makita, N et al. (1994) Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene. J. Biol. Chem. 269 7571-8 PubMed GONUTS page
  3. 3.0 3.1 Pan, X et al. (2018) Structure of the human voltage-gated sodium channel Na1.4 in complex with β1. Science 362 PubMed GONUTS page
  4. 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 Watanabe, H et al. (2009) Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol 2 268-75 PubMed GONUTS page
  5. 5.0 5.1 5.2 5.3 Watanabe, H et al. (2008) Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J. Clin. Invest. 118 2260-8 PubMed GONUTS page
  6. 6.0 6.1 6.2 Lopez-Santiago, LF et al. (2007) Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals. J. Mol. Cell. Cardiol. 43 636-47 PubMed GONUTS page
  7. Makita, N et al. (2012) A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. Circ Arrhythm Electrophysiol 5 163-72 PubMed GONUTS page
  8. 8.0 8.1 8.2 Olesen, MS et al. (2011) Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc. Res. 89 786-93 PubMed GONUTS page
  9. 9.0 9.1 9.2 9.3 9.4 9.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  10. 10.0 10.1 10.2 10.3 Qin, N et al. (2003) Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit. Eur. J. Biochem. 270 4762-70 PubMed GONUTS page