Gene: ENSG00000138686 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000138686
Transcript Identifier
ENST00000264499
Gene Type
Coding gene
Location
4 : 121825860-121870313 : negative

Family Information

Homologous gene family
HOM03P007981
(11 genes in 11 species)
specific family

Descriptions

gene_descr
Bardet-Biedl syndrome 7

Identifiers

Type Value
pidENSP00000264499
HGNC18758
UniprotQ8IWZ6

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001654
IEA
Genome Projecteye development
GO:0001947
ISS
Genome Projectheart looping
GO:0006357
IPI
Genome Projectregulation of transcription from RNA polymerase II promoter
GO:0006810
IEA
Genome Projecttransport
GO:0006996
TAS
Genome Projectorganelle organization
GO:0007224
IEA
Genome Projectsmoothened signaling pathway
GO:0007368
ISS
Genome Projectdetermination of left/right symmetry
GO:0007420
IEA
Genome Projectbrain development
GO:0007507
IEA
Genome Projectheart development
GO:0007601
IEA
Genome Projectvisual perception
GO:0008104
IBA
IEA
Genome Projectprotein localization
GO:0015031
IEA
Genome Projectprotein transport
GO:0030030
IEA
Genome Projectcell projection organization
GO:0032402
ISS
Genome Projectmelanosome transport
GO:0032436
IPI
Genome Projectpositive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0035058
IEA
Genome Projectnonmotile primary cilium assembly
GO:0042384
IBA
Genome Projectcilium assembly
GO:0045444
ISS
IEA
Genome Projectfat cell differentiation
GO:0046907
IBA
Genome Projectintracellular transport
GO:0048546
ISS
Genome Projectdigestive tract morphogenesis
GO:0050896
IEA
Genome Projectresponse to stimulus
GO:0051877
ISS
Genome Projectpigment granule aggregation in cell center
GO:0060021
IEA
Genome Projectpalate development
GO:0060173
IEA
Genome Projectlimb development
GO:0060271
ISS
Genome Projectcilium morphogenesis

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001103
IPI
Genome ProjectRNA polymerase II repressing transcription factor binding
GO:0005515
IPI
Genome Projectprotein binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001750
IEA
Genome Projectphotoreceptor outer segment
GO:0005634
IEA
Genome Projectnucleus
GO:0005737
IEA
Genome Projectcytoplasm
GO:0005813
IDA
Genome Projectcentrosome
GO:0005815
IEA
Genome Projectmicrotubule organizing center
GO:0005829
TAS
Genome Projectcytosol
GO:0005856
IEA
Genome Projectcytoskeleton
GO:0005886
IEA
Genome Projectplasma membrane
GO:0005929
IEA
Genome Projectcilium
GO:0005930
IBA
IEA
Genome Projectaxoneme
GO:0016020
IBA
IEA
Genome Projectmembrane
GO:0034464
IDA
IEA
Genome ProjectBBSome
GO:0036064
IBA
IEA
Genome Projectciliary basal body
GO:0042995
IEA
Genome Projectcell projection
GO:0060170
IEA
Genome Projectciliary membrane

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR015943WD40/YVTN repeat-like-containing domain
IPR016575Bardet-Biedl syndrome 7 protein
IPR017986WD40-repeat-containing domain

No MapMan annotations defined for this gene.