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HUMAN:NPHP3
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | NPHP3 (synonyms: KIAA2000) | |
| Protein Name(s) | Nephrocystin-3 | |
| External Links | ||
| UniProt | Q7Z494 | |
| EMBL | AY257864 AY257865 AY257866 AB082531 AK055253 AK055893 AK094015 AL832863 AL832877 CR749498 BC068082 | |
| CCDS | CCDS3078.1 | |
| RefSeq | NP_694972.3 | |
| UniGene | Hs.511991 | |
| ProteinModelPortal | Q7Z494 | |
| SMR | Q7Z494 | |
| BioGrid | 117962 | |
| IntAct | Q7Z494 | |
| MINT | MINT-8411916 | |
| PhosphoSite | Q7Z494 | |
| DMDM | 68565783 | |
| MaxQB | Q7Z494 | |
| PaxDb | Q7Z494 | |
| PRIDE | Q7Z494 | |
| Ensembl | ENST00000337331 ENST00000383282 ENST00000469232 | |
| GeneID | 27031 | |
| KEGG | hsa:27031 | |
| UCSC | uc003epd.2 uc003epe.2 | |
| CTD | 27031 | |
| GeneCards | GC03M132277 GC03M132278 | |
| H-InvDB | HIX0003689 HIX0030824 | |
| HGNC | HGNC:7907 | |
| HPA | HPA009150 | |
| MIM | 208540 267010 604387 608002 | |
| neXtProt | NX_Q7Z494 | |
| Orphanet | 93589 3032 294415 3156 | |
| PharmGKB | PA31708 | |
| eggNOG | COG0457 | |
| GeneTree | ENSGT00390000006393 | |
| HOVERGEN | HBG079457 | |
| InParanoid | Q7Z494 | |
| OMA | SMAAEYF | |
| OrthoDB | EOG7VDXND | |
| PhylomeDB | Q7Z494 | |
| TreeFam | TF314010 | |
| ChiTaRS | NPHP3 | |
| GeneWiki | NPHP3 | |
| GenomeRNAi | 27031 | |
| NextBio | 49564 | |
| PRO | PR:Q7Z494 | |
| Proteomes | UP000005640 | |
| Bgee | Q7Z494 | |
| ExpressionAtlas | Q7Z494 | |
| Genevestigator | Q7Z494 | |
| GO | GO:0005929 GO:0072372 GO:0003283 GO:0060271 GO:0060027 GO:0071908 GO:0007368 GO:0071910 GO:0035469 GO:0071909 GO:0060287 GO:0001947 GO:0001822 GO:0060993 GO:0030324 GO:0048496 GO:0090090 GO:0045494 GO:2000167 GO:2000095 GO:0072189 GO:0016055 | |
| Gene3D | 1.25.40.10 3.40.50.300 | |
| InterPro | IPR027417 IPR013026 IPR011990 IPR019734 | |
| Pfam | PF13176 | |
| SMART | SM00028 | |
| SUPFAM | SSF52540 | |
| PROSITE | PS50005 PS50293 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:2000167 |
regulation of planar cell polarity pathway involved in neural tube closure |
ECO:0000305 |
curator inference used in manual assertion |
GO:0060027 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0072189 |
ureter development |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0071910 |
determination of liver left/right asymmetry |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0071909 |
determination of stomach left/right asymmetry |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0071908 |
determination of intestine left/right asymmetry |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0060993 |
kidney morphogenesis |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0060287 |
epithelial cilium movement involved in determination of left/right asymmetry |
ECO:0000305 |
curator inference used in manual assertion |
GO:0007368 GO:0060271 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0060271 |
cilium assembly |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0060027 |
convergent extension involved in gastrulation |
ECO:0000316 |
genetic interaction evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0035469 |
determination of pancreatic left/right asymmetry |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0030324 |
lung development |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007368 |
determination of left/right symmetry |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0003283 |
atrial septum development |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0001947 |
heart looping |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0001947 |
heart looping |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0001822 |
kidney development |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0048496 |
maintenance of animal organ identity |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0045494 |
photoreceptor cell maintenance |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:2000095 |
regulation of Wnt signaling pathway, planar cell polarity pathway |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0090090 |
negative regulation of canonical Wnt signaling pathway |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005929 |
cilium |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0060271 |
cilium assembly |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005929 |
cilium |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005929 |
cilium |
Reactome:R-HSA-5624133 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
|
part_of |
GO:0005829 |
cytosol |
Reactome:R-HSA-5624132 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
|
involved_in |
GO:0016055 |
Wnt signaling pathway |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005929 |
cilium |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0042995 |
cell projection |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 Bergmann, C et al. (2008) Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am. J. Hum. Genet. 82 959-70 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 Fiskerstrand, T et al. (2010) Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. J Mol Diagn 12 125-31 PubMed GONUTS page
- ↑ 3.0 3.1 Olbrich, H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat. Genet. 34 455-9 PubMed GONUTS page
- ↑ Wright, KJ et al. (2011) An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes Dev. 25 2347-60 PubMed GONUTS page
- ↑ Zhou, W et al. (2010) Nephrocystin-3 is required for ciliary function in zebrafish embryos. Am. J. Physiol. Renal Physiol. 299 F55-62 PubMed GONUTS page
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