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MGI:Pkd1

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Contents

Species (Taxon ID) Mus musculus (house mouse) (taxon:10090)
Gene Name(s) Pkd1 ( synonyms: PC-1, PC1, polycystin-1 )
Protein Name(s) polycystic kidney disease 1 homolog,
External Links
MGI MGI:97603

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0001502

cartilage condensation

MGI:MGI:2152028
PMID:11593033[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2152589

P

From MGI

GO:0001568

blood vessel development

MGI:MGI:1932572
PMID:10677526[2]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2183523

P

From MGI

GO:0001701

in utero embryonic development

MGI:MGI:3760608
PMID:16282979[3]

IGI: Inferred from Genetic Interaction

MGI:MGI:1197519

P

From MGI

GO:0001701

in utero embryonic development

MGI:MGI:3760608
PMID:16282979[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857562

P

From MGI

GO:0001822

kidney development

MGI:MGI:4836293
PMID:20862291[4]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0001892

embryonic placenta development

MGI:MGI:4836293
PMID:20862291[4]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0002133

polycystin complex

MGI:MGI:2180983
PMID:11901144[5]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005261

cation channel activity

MGI:MGI:3573990
PMID:15548533[6]

IPI: Inferred from Physical Interaction

UniProtKB:Q80ZH4

F

From MGI

GO:0005262

calcium channel activity

MGI:MGI:2178492
PMID:12007403[7]

TAS: Traceable Author Statement

F

From MGI

GO:0005515

protein binding

MGI:MGI:2178492
PMID:12007403[7]

IPI: Inferred from Physical Interaction

UniProtKB:O35245

F

From MGI

GO:0005515

protein binding

MGI:MGI:2180983
PMID:11901144[5]

IPI: Inferred from Physical Interaction

UniProtKB:O35245

F

From MGI

GO:0005515

protein binding

MGI:MGI:3573990
PMID:15548533[6]

IPI: Inferred from Physical Interaction

UniProtKB:Q80ZH4

F

From MGI

GO:0005624

membrane fraction

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

NCBI:NP_001244281

C

From MGI

GO:0005634

nucleus

MGI:MGI:3512725
PMID:15545994[8]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:5315699
PMID:16311606[9]

IMP: Inferred from Mutant Phenotype

C

From MGI

GO:0005794

Golgi apparatus

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

NCBI:NP_001244281

C

From MGI

GO:0005886

plasma membrane

MGI:MGI:3573990
PMID:15548533[6]

IPI: Inferred from Physical Interaction

UniProtKB:Q80ZH4

C

From MGI

GO:0005929

cilium

MGI:MGI:2449360
PMID:12514735[10]

IDA: Inferred from Direct Assay

C

From MGI

GO:0006611

protein export from nucleus

MGI:MGI:4440396
PMID:20181743[11]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0006816

calcium ion transport

MGI:MGI:2449360
PMID:12514735[10]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857562

P

From MGI

GO:0007050

cell cycle arrest

MGI:MGI:2178492
PMID:12007403[7]

IDA: Inferred from Direct Assay

P

From MGI

GO:0007218

neuropeptide signaling pathway

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR000203

P

From MGI

GO:0007259

JAK-STAT cascade

MGI:MGI:2178492
PMID:12007403[7]

IDA: Inferred from Direct Assay

P

From MGI

GO:0007507

heart development

MGI:MGI:2152028
PMID:11593033[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2152589

P

From MGI

GO:0016020

membrane

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0472

C

From MGI

GO:0016020

membrane

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR000203

C

From MGI

GO:0016021

integral to membrane

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0812

C

From MGI

GO:0016021

integral to membrane

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR000434

C

From MGI

GO:0016323

basolateral plasma membrane

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P98161

C

From MGI

GO:0016328

lateral plasma membrane

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

NCBI:NP_001244281

C

From MGI

GO:0016337

cell-cell adhesion

MGI:MGI:1932572
PMID:10677526[2]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2183523

P

From MGI

GO:0018105

peptidyl-serine phosphorylation

MGI:MGI:4440396
PMID:20181743[11]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0019901

protein kinase binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P98161

F

From MGI

GO:0019904

protein domain specific binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P98161

F

From MGI

GO:0030246

carbohydrate binding

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR001304

F

From MGI

GO:0031512

motile primary cilium

MGI:MGI:3582145
PMID:15858826[12]

IDA: Inferred from Direct Assay

C

From MGI

GO:0031659

positive regulation of cyclin-dependent protein kinase activity involved in G1/S

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P98161

P

From MGI

GO:0032092

positive regulation of protein binding

MGI:MGI:5315699
PMID:16311606[9]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0042994

cytoplasmic sequestering of transcription factor

MGI:MGI:5315699
PMID:16311606[9]

IMP: Inferred from Mutant Phenotype

P

From MGI

GO:0042995

cell projection

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0966

C

From MGI

GO:0044325

ion channel binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P98161

F

From MGI

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P98161

P

From MGI

GO:0048754

branching morphogenesis of a tube

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P98161

P

From MGI

GO:0050982

detection of mechanical stimulus

MGI:MGI:2449360
PMID:12514735[10]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857562

P

From MGI

GO:0050982

detection of mechanical stimulus

MGI:MGI:3512725
PMID:15545994[8]

IDA: Inferred from Direct Assay

P

From MGI

GO:0060674

placenta blood vessel development

MGI:MGI:4836293
PMID:20862291[4]

IMP: Inferred from Mutant Phenotype

P

From MGI


Notes

References

See Help:References for how to manage references in GONUTS.
  1. 1.0 1.1 Boulter C et al. (2001) Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. Proc Natl Acad Sci U S A 98: 12174-9 PubMed GONUTS page
  2. 2.0 2.1 Kim K et al. (2000) Polycystin 1 is required for the structural integrity of blood vessels. Proc Natl Acad Sci U S A 97: 1731-6 PubMed GONUTS page
  3. 3.0 3.1 Hughes P et al. (2006) Loss of PKD1 and loss of Bcl-2 elicit polycystic kidney disease through distinct mechanisms. Cell Death Differ 13: 1123-7 PubMed GONUTS page
  4. 4.0 4.1 4.2 Garcia-Gonzalez MA et al. (2010) Pkd1 and Pkd2 are required for normal placental development. PLoS One 5: PubMed GONUTS page
  5. 5.0 5.1 Newby LJ et al. (2002) Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex. J Biol Chem 277: 20763-73 PubMed GONUTS page
  6. 6.0 6.1 6.2 Murakami M et al. (2005) Genomic organization and functional analysis of murine PKD2L1. J Biol Chem 280: 5626-35 PubMed GONUTS page
  7. 7.0 7.1 7.2 7.3 Bhunia AK et al. (2002) PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. Cell 109: 157-68 PubMed GONUTS page
  8. 8.0 8.1 Chauvet V et al. (2004) Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus. J Clin Invest 114: 1433-43 PubMed GONUTS page
  9. 9.0 9.1 9.2 Li X et al. (2005) Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2. Nat Cell Biol 7: 1202-12 PubMed GONUTS page
  10. 10.0 10.1 10.2 Nauli SM et al. (2003) Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 33: 129-37 PubMed GONUTS page
  11. 11.0 11.1 Xia S et al. (2010) Polycystin-dependent fluid flow sensing targets histone deacetylase 5 to prevent the development of renal cysts. Development 137: 1075-84 PubMed GONUTS page
  12. Teilmann SC et al. (2005) Localization of transient receptor potential ion channels in primary and motile cilia of the female murine reproductive organs. Mol Reprod Dev 71: 444-52 PubMed GONUTS page
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