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MOUSE:PKD1
Contents |
| Species (Taxon ID) | Mus musculus (Mouse). ([1]) | |
| Gene Name(s) | Pkd1 | |
| Protein Name(s) | Polycystin-1
Autosomal dominant polycystic kidney disease 1 protein homolog | |
| External Links | ||
| EMBL | U70209 AC132367 | |
| IPI | IPI00116377 | |
| RefSeq | NP_038658.2 | |
| UniGene | Mm.290442 Mm.30435 | |
| HSSP | P98161 | |
| ProteinModelPortal | O08852 | |
| SMR | O08852 | |
| MINT | MINT-5163387 | |
| STRING | O08852 | |
| MEROPS | T06.001 | |
| PhosphoSite | O08852 | |
| PRIDE | O08852 | |
| Ensembl | ENSMUST00000035565 | |
| GeneID | 18763 | |
| KEGG | mmu:18763 | |
| UCSC | uc008awv.1 | |
| CTD | 5310 | |
| MGI | MGI:97603 | |
| HOGENOM | HBG445104 | |
| HOVERGEN | HBG049412 | |
| InParanoid | O08852 | |
| OrthoDB | EOG4Z8XVH | |
| NextBio | 294959 | |
| ArrayExpress | O08852 | |
| Bgee | O08852 | |
| Genevestigator | O08852 | |
| GO | GO:0016021 GO:0031512 GO:0005634 GO:0002133 GO:0005262 GO:0005529 GO:0001568 GO:0001502 GO:0007050 GO:0050982 GO:0007507 GO:0001701 GO:0007259 GO:0007218 GO:0018105 GO:0006611 | |
| InterPro | IPR001304 IPR016186 IPR016187 IPR000483 IPR000203 IPR001611 IPR003591 IPR008976 IPR001024 IPR000372 IPR022409 IPR002859 IPR013122 IPR000434 IPR000601 IPR006228 IPR014010 IPR002889 IPR013994 | |
| Gene3D | G3DSA:3.10.100.10 G3DSA:2.60.60.20 G3DSA:2.60.40.670 | |
| KO | K04985 | |
| Pfam | PF01825 PF00059 PF00801 PF08016 PF01477 PF02010 PF01822 | |
| PRINTS | PR00500 | |
| SMART | SM00034 SM00303 SM00308 SM00369 SM00082 SM00013 SM00089 SM00321 | |
| SUPFAM | SSF56436 SSF49723 SSF49299 | |
| TIGRFAMs | TIGR00864 | |
| PROSITE | PS50041 PS50221 PS01209 PS50068 PS51450 PS50093 PS50095 PS51111 PS51212 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0001502 |
cartilage condensation |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2152589 |
P |
Seeded From UniProt |
|||
| GO:0001568 |
blood vessel development |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2183523 |
P |
Seeded From UniProt |
|||
| GO:0001701 |
in utero embryonic development |
IGI: Inferred from Genetic Interaction |
MGI:MGI:1197519 |
P |
Seeded From UniProt |
|||
| GO:0001701 |
in utero embryonic development |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857562 |
P |
Seeded From UniProt |
|||
| GO:0002133 |
polycystin complex |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0005261 |
cation channel activity |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005262 |
calcium channel activity |
TAS: Traceable Author Statement |
|
F |
Seeded From UniProt |
|||
| GO:0005488 |
binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0005488 |
binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0005488 |
binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005529 |
sugar binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0005634 |
nucleus |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0005886 |
plasma membrane |
IPI: Inferred from Physical Interaction |
C |
Seeded From UniProt |
||||
| GO:0005929 |
cilium |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005929 |
cilium |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0066 |
C |
Seeded From UniProt |
|||
| GO:0005929 |
cilium |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0006611 |
protein export from nucleus |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0006816 |
calcium ion transport |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857562 |
P |
Seeded From UniProt |
|||
| GO:0007050 |
cell cycle arrest |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0007218 |
neuropeptide signaling pathway |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0007259 |
JAK-STAT cascade |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0007507 |
heart development |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2152589 |
P |
Seeded From UniProt |
|||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0162 |
C |
Seeded From UniProt |
|||
| GO:0016021 |
integral to membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016021 |
integral to membrane |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0016323 |
basolateral plasma membrane |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSP00000262304 |
C |
Seeded From UniProt |
|||
| GO:0016337 |
cell-cell adhesion |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2183523 |
P |
Seeded From UniProt |
|||
| GO:0018105 |
peptidyl-serine phosphorylation |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0019904 |
protein domain specific binding |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSP00000262304 |
F |
Seeded From UniProt |
|||
| GO:0031512 |
motile primary cilium |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0042995 |
cell projection |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0050982 |
detection of mechanical stimulus |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1857562 |
P |
Seeded From UniProt |
|||
| GO:0050982 |
detection of mechanical stimulus |
IDA: Inferred from Direct Assay |
|
P |
Seeded From UniProt |
|||
| GO:0070588 |
calcium ion transmembrane transport |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
|||
| GO:0018105 |
IMP: Inferred from Mutant Phenotype |
The mouse Pkdl transcript encodes a protein with a high level of homology to the human PKD1 gene product.Figure 2 (a and b) |
complete | |||||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 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
- ↑ 2.0 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
- ↑ 3.0 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
- ↑ 4.0 4.1 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
- ↑ 5.0 5.1 5.2 Murakami M et al. (2005) Genomic organization and functional analysis of murine PKD2L1. J Biol Chem 280: 5626-35 PubMed GONUTS page
- ↑ 6.0 6.1 6.2 6.3 6.4 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
- ↑ 7.0 7.1 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
- ↑ 8.0 8.1 8.2 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
- ↑ 9.0 9.1 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
- ↑ 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
- ↑ Löhning C et al. (1997) The mouse homolog of PKD1: sequence analysis and alternative splicing. Mamm Genome 8: 307-11 PubMed GONUTS page
