Gene: ENSG00000104237 (Homo sapiens)

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Gene Identifier
ENSG00000104237
Transcript Identifier
ENST00000220676
Gene Type
Coding gene
Location
8 : 54620967-54630353 : positive

Family Information

Homologous gene family
HOM02SEM029774
(3 genes in 2 species)
specific family

Descriptions

gene_descr
retinitis pigmentosa 1 (autosomal dominant)

Identifiers

Type Value
pidENSP00000220676
HGNC10263
UniprotP56715
RefSeq_mRNANM_006269.1
EMBLAF128525
EMBLAF141021
EMBLAF143222
EMBLAF143224
EMBLAF143225
EMBLAF143226
EMBLAF146592
EMBLAF152240
EMBLAF152241
EMBLAF152242

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:1902857
IEA
Genome Projectpositive regulation of non-motile cilium assembly
GO:0071482
IEA
Genome Projectcellular response to light stimulus
GO:0060041
IBA
Genome Projectretina development in camera-type eye
GO:0046549
ISS
Genome Projectretinal cone cell development
GO:0046549
ISS
Gene Ontologyretinal cone cell development
GO:0046548
ISS
Genome Projectretinal rod cell development
GO:0046548
ISS
Gene Ontologyretinal rod cell development
GO:0045494
ISS
Genome Projectphotoreceptor cell maintenance
GO:0045494
ISS
Gene Ontologyphotoreceptor cell maintenance
GO:0042461
ISS, IBA
Genome Projectphotoreceptor cell development
GO:0042461
ISS
Gene Ontologyphotoreceptor cell development
GO:0035845
ISS
Genome Projectphotoreceptor cell outer segment organization
GO:0035845
ISS
Gene Ontologyphotoreceptor cell outer segment organization
GO:0035556
IEA
Genome Projectintracellular signal transduction
GO:0035082
ISS, IBA
Genome Projectaxoneme assembly
GO:0035082
ISS
Gene Ontologyaxoneme assembly
GO:0007603
TAS
Genome Projectphototransduction, visible light
GO:0007603
TAS
Gene Ontologyphototransduction, visible light1
GO:0007601
IEA
Genome Projectvisual perception

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0008017
ISS
Genome Projectmicrotubule binding
GO:0008017
ISS
Gene Ontologymicrotubule binding
GO:0005515
IPI
Genome Projectprotein binding
GO:0005515
IPI
Gene Ontologyprotein binding2

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0097542
IEA
Genome Projectciliary tip
GO:0032391
IDA
Genome Projectphotoreceptor connecting cilium
GO:0032391
IDA
Gene Ontologyphotoreceptor connecting cilium3
GO:0005930
IBA
Genome Projectaxoneme
GO:0005875
ISS
Genome Projectmicrotubule associated complex
GO:0005875
ISS
Gene Ontologymicrotubule associated complex
GO:0005874
IEA
Genome Projectmicrotubule
GO:0005737
IEA
Genome Projectcytoplasm
GO:0001917
IDA
Genome Projectphotoreceptor inner segment
GO:0001917
IDA
Gene Ontologyphotoreceptor inner segment4
GO:0001750
ISS
Genome Projectphotoreceptor outer segment
GO:0001750
ISS
Gene Ontologyphotoreceptor outer segment

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR003533Doublecortin domain
IPR033013Oxygen-regulated protein 1

No MapMan annotations defined for this gene.
KeggID Description
K19538RP1; retinitis pigmentosa 1
No chloroplast target sequence found.