(Q21117131)

P-loop containing nucleoside triphosphate hydrolase

1 reference

Tetratricopeptide repeat-containing domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

Tetratricopeptide repeat family

1 reference

based on heuristic

inferred from protein domain or family

1 reference

13 November 2019

1 reference

13 November 2019

8 references

9 May 2019

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

9 May 2019

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

9 May 2019

An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

9 May 2019

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

9 May 2019

Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119.

IntAct protein interaction database

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

9 May 2019

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

IntAct protein interaction database

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

9 May 2019

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

IntAct protein interaction database

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

9 May 2019

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

HUGO Gene Nomenclature Committee

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

4 references

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

9 May 2019

Nephrocystin-3 is required for ciliary function in zebrafish embryos

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

9 May 2019

An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

1 reference

9 May 2019

Gene Ontology Consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

IEA

biological process

Wnt signaling pathway

1 reference

9 May 2019

determination of liver left/right asymmetry

IEA

1 reference

9 May 2019

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

determination of pancreatic left/right asymmetry

1 reference

9 May 2019

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

1 reference

9 May 2019

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

atrial septum development

1 reference

9 May 2019

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

convergent extension involved in gastrulation

1 reference

9 May 2019

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

1 reference

9 May 2019

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

regulation of Wnt signaling pathway, planar cell polarity pathway

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

negative regulation of canonical Wnt signaling pathway

ISS

1 reference

9 May 2019

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

epithelial cilium movement involved in determination of left/right asymmetry

IDA

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

photoreceptor cell maintenance

IC

1 reference

9 May 2019

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

HUGO Gene Nomenclature Committee

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

determination of intestine left/right asymmetry

1 reference

9 May 2019

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

determination of stomach left/right asymmetry

1 reference

9 May 2019

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

regulation of planar cell polarity pathway involved in neural tube closure

1 reference

9 May 2019

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

1 reference

9 May 2019

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

determination of left/right symmetry

1 reference

9 May 2019

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

maintenance of animal organ identity

1 reference

9 May 2019

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

HUGO Gene Nomenclature Committee

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

1 reference

9 May 2019

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q7Z494

Tetratricopeptide repeat-containing domain

has part(s)

1 reference

tetratricopeptide repeat

1 reference