Gene: ENSG00000138686 (Homo sapiens)

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

Family Information

Homologous gene family
HOM02SEM013053
(6 genes in 6 species)
specific family
Orthologous gene family
ORTHO02SEM010556
(6 genes in 6 species)
specific family

Descriptions

gene_descr
Bardet-Biedl syndrome 7

Identifiers

Type Value
pidENSP00000264499
HGNC18758
UniprotQ8IWZ6
RefSeq_mRNANM_176824.2
EMBLAC079341
EMBLAF521643
EMBLAF521644
EMBLAK001577
EMBLBC032691

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:1905515
IEA
Genome Projectnon-motile cilium assembly
GO:0060271
ISS, IBA
Genome Projectcilium assembly
GO:0060271
ISS
Gene Ontologycilium assembly
GO:0060173
IEA
Genome Projectlimb development
GO:0060021
IEA
Genome Projectroof of mouth development
GO:0051877
ISS
Genome Projectpigment granule aggregation in cell center
GO:0051877
ISS
Gene Ontologypigment granule aggregation in cell center
GO:0048546
ISS
Genome Projectdigestive tract morphogenesis
GO:0048546
ISS
Gene Ontologydigestive tract morphogenesis
GO:0046907
IBA
Genome Projectintracellular transport
GO:0045444
ISS
Genome Projectfat cell differentiation
GO:0045444
ISS
Gene Ontologyfat cell differentiation
GO:0032436
IPI
Genome Projectpositive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032436
IPI
Gene Ontologypositive regulation of proteasomal ubiquitin-dependent protein catabolic process1
GO:0032402
ISS
Genome Projectmelanosome transport
GO:0032402
ISS
Gene Ontologymelanosome transport
GO:0015031
IEA
Genome Projectprotein transport
GO:0008104
IBA
Genome Projectprotein localization
GO:0007601
IEA
Genome Projectvisual perception
GO:0007420
IEA
Genome Projectbrain development
GO:0007368
ISS
Genome Projectdetermination of left/right symmetry
GO:0007368
ISS
Gene Ontologydetermination of left/right symmetry
GO:0007224
IEA
Genome Projectsmoothened signaling pathway
GO:0006357
IPI
Genome Projectregulation of transcription by RNA polymerase II
GO:0006357
IPI
Gene Ontologyregulation of transcription by RNA polymerase II1
GO:0001947
ISS
Genome Projectheart looping
GO:0001947
ISS
Gene Ontologyheart looping
GO:0001654
IEA
Genome Projecteye development
GO:0034613
IEA
PLAZA Integrative Orthologycellular protein localization WBGene00003892
GO:0010970
IEA
PLAZA Integrative Orthologytransport along microtubule WBGene00003892
GO:0072657
IEA
PLAZA Integrative Orthologyprotein localization to membrane WBGene00003892
GO:1990778
IEA
PLAZA Integrative Orthologyprotein localization to cell periphery WBGene00003892
GO:0006928
IEA
PLAZA Integrative Orthologymovement of cell or subcellular component WBGene00003892
GO:0099118
IEA
PLAZA Integrative Orthologymicrotubule-based protein transport WBGene00003892
GO:0042073
IEA
PLAZA Integrative Orthologyintraciliary transport WBGene00003892
GO:0030705
IEA
PLAZA Integrative Orthologycytoskeleton-dependent intracellular transport WBGene00003892
GO:0009605
IEA
PLAZA Integrative Orthologyresponse to external stimulus WBGene00003892
GO:0031503
IEA
PLAZA Integrative Orthologyprotein-containing complex localization WBGene00003892
GO:0098840
IEA
PLAZA Integrative Orthologyprotein transport along microtubule WBGene00003892
GO:0006935
IEA
PLAZA Integrative Orthologychemotaxis WBGene00003892
GO:0007017
IEA
PLAZA Integrative Orthologymicrotubule-based process WBGene00003892
GO:0099111
IEA
PLAZA Integrative Orthologymicrotubule-based transport WBGene00003892
GO:0007018
IEA
PLAZA Integrative Orthologymicrotubule-based movement WBGene00003892
GO:0006886
IEA
PLAZA Integrative Orthologyintracellular protein transport WBGene00003892
GO:1904106
IEA
PLAZA Integrative Orthologyprotein localization to microvillus WBGene00003892
GO:0042221
IEA
PLAZA Integrative Orthologyresponse to chemical WBGene00003892
GO:1904107
IEA
PLAZA Integrative Orthologyprotein localization to microvillus membrane WBGene00003892
GO:0042330
IEA
PLAZA Integrative Orthologytaxis WBGene00003892
GO:0040011
IEA
PLAZA Integrative Orthologylocomotion WBGene00003892
GO:0070727
IEA
PLAZA Integrative Orthologycellular macromolecule localization WBGene00003892

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005515
IPI
Genome Projectprotein binding
GO:0005515
IPI
Gene Ontologyprotein binding2 3 4 5 6 7 8 9 10 11
GO:0001103
IPI
Genome ProjectRNA polymerase II repressing transcription factor binding
GO:0001103
IPI
Gene OntologyRNA polymerase II repressing transcription factor binding1

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0060170
IEA
Genome Projectciliary membrane
GO:0036064
IBA
Genome Projectciliary basal body
GO:0034464
IDA
Genome ProjectBBSome
GO:0034464
IDA
Gene OntologyBBSome3 6 9
GO:0016020
IBA
Genome Projectmembrane
GO:0005930
IBA
Genome Projectaxoneme
GO:0005829
TAS
Genome Projectcytosol
GO:0005829
TAS
Gene Ontologycytosol
GO:0005813
IDA
Genome Projectcentrosome
GO:0005813
IDA
Gene Ontologycentrosome12
GO:0005634
IEA
Genome Projectnucleus
GO:0001750
IEA
Genome Projectphotoreceptor outer segment

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 superfamily
IPR016575Bardet-Biedl syndrome 7 protein
IPR017986WD40-repeat-containing domain

No MapMan annotations defined for this gene.
KeggID Description
K16749BBS7; Bardet-Biedl syndrome 7 protein
No chloroplast target sequence found.