Gene: ENSG00000113971 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000113971
Transcript Identifier
ENST00000337331
Gene Type
Coding gene
Location
3 : 132681910-132722355 : negative

Family Information

Homologous gene family
HOM03P000094
(283 genes in 31 species)
specific family
Orthologous gene family
ORTHO03P043395
(2 genes in 1 species)
specific family

Descriptions

gene_descr
nephronophthisis 3 (adolescent)

Identifiers

Type Value
pidENSP00000338766
HGNC7907
UniprotQ7Z494

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001822
IMP
Genome Projectkidney development
GO:0001947
IMP
Genome Projectheart looping
GO:0003283
IMP
Genome Projectatrial septum development
GO:0006996
TAS
Genome Projectorganelle organization
GO:0007368
IMP
Genome Projectdetermination of left/right symmetry
GO:0016055
IEA
Genome ProjectWnt signaling pathway
GO:0030324
IMP
Genome Projectlung development
GO:0035469
IMP
Genome Projectdetermination of pancreatic left/right asymmetry
GO:0045494
IMP
Genome Projectphotoreceptor cell maintenance
GO:0048496
IMP
Genome Projectmaintenance of organ identity
GO:0060027
IGI
Genome Projectconvergent extension involved in gastrulation
GO:0060271
ISS
Genome Projectcilium morphogenesis
GO:0060287
IC
Genome Projectepithelial cilium movement involved in determination of left/right asymmetry
GO:0060993
IMP
Genome Projectkidney morphogenesis
GO:0071908
IMP
Genome Projectdetermination of intestine left/right asymmetry
GO:0071909
IMP
Genome Projectdetermination of stomach left/right asymmetry
GO:0071910
IMP
Genome Projectdetermination of liver left/right asymmetry
GO:0072189
IMP
Genome Projectureter development
GO:0090090
IDA
Genome Projectnegative regulation of canonical Wnt signaling pathway
GO:2000095
ISS
Genome Projectregulation of Wnt signaling pathway, planar cell polarity pathway
GO:2000167
IC
Genome Projectregulation of planar cell polarity pathway involved in neural tube closure

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005515
IPI
Genome Projectprotein binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005829
TAS
Genome Projectcytosol
GO:0005929
IDA
IEA
Genome Projectcilium
GO:0042995
IEA
Genome Projectcell projection
GO:0072372
IDA
TAS
Genome Projectprimary cilium

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR011990Tetratricopeptide-like helical domain
IPR013026Tetratricopeptide repeat-containing domain
IPR019734Tetratricopeptide repeat
IPR027417P-loop containing nucleoside triphosphate hydrolase

No MapMan annotations defined for this gene.