Gene: ENSG00000140463 (Homo sapiens)

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Gene Identifier
ENSG00000140463
Transcript Identifier
ENST00000268057
Gene Type
Coding gene
Location
15 : 72686228-72737587 : positive

Family Information

Homologous gene family
HOM02SEM012037
(7 genes in 6 species)
specific family
Orthologous gene family
ORTHO02SEM010555
(6 genes in 6 species)
specific family

Descriptions

gene_descr
Bardet-Biedl syndrome 4

Identifiers

Type Value
pidENSP00000268057
HGNC969
UniprotQ96RK4
RefSeq_mRNANM_033028.4

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:1905515
ISS
Genome Projectnon-motile cilium assembly
GO:1905515
ISS
Gene Ontologynon-motile cilium assembly
GO:1903546
IEA
Genome Projectprotein localization to photoreceptor outer segment
GO:1902855
IEA
Genome Projectregulation of non-motile cilium assembly
GO:0071539
IMP
Genome Projectprotein localization to centrosome
GO:0071539
IMP
Gene Ontologyprotein localization to centrosome1
GO:0061512
IMP
Genome Projectprotein localization to cilium
GO:0061512
IMP
Gene Ontologyprotein localization to cilium2
GO:0060613
IEA
Genome Projectfat pad development
GO:0060324
IEA
Genome Projectface development
GO:0060296
ISS
Genome Projectregulation of cilium beat frequency involved in ciliary motility
GO:0060296
ISS
Gene Ontologyregulation of cilium beat frequency involved in ciliary motility
GO:0060271
ISS
Genome Projectcilium assembly
GO:0060271
ISS
Gene Ontologycilium assembly3
GO:0051492
IEA
Genome Projectregulation of stress fiber assembly
GO:0051457
IGI
Genome Projectmaintenance of protein location in nucleus
GO:0051457
IGI
Gene Ontologymaintenance of protein location in nucleus1
GO:0050893
TAS
Genome Projectsensory processing
GO:0050893
TAS
Gene Ontologysensory processing4
GO:0048854
ISS
Genome Projectbrain morphogenesis
GO:0048854
ISS
Gene Ontologybrain morphogenesis
GO:0046907
ISS
Genome Projectintracellular transport
GO:0046907
ISS
Gene Ontologyintracellular transport3
GO:0046548
ISS
Genome Projectretinal rod cell development
GO:0046548
ISS
Gene Ontologyretinal rod cell development
GO:0045724
ISS
Genome Projectpositive regulation of cilium assembly
GO:0045724
ISS
Gene Ontologypositive regulation of cilium assembly
GO:0045494
ISS
Genome Projectphotoreceptor cell maintenance
GO:0045494
ISS
Gene Ontologyphotoreceptor cell maintenance
GO:0045444
ISS
Genome Projectfat cell differentiation
GO:0045444
ISS
Gene Ontologyfat cell differentiation
GO:0040018
IEA
Genome Projectpositive regulation of multicellular organism growth
GO:0038108
ISS
Genome Projectnegative regulation of appetite by leptin-mediated signaling pathway
GO:0038108
ISS
Gene Ontologynegative regulation of appetite by leptin-mediated signaling pathway
GO:0035845
IEA
Genome Projectphotoreceptor cell outer segment organization
GO:0035176
IEA
Genome Projectsocial behavior
GO:0034454
IMP
Genome Projectmicrotubule anchoring at centrosome
GO:0034454
IMP
Gene Ontologymicrotubule anchoring at centrosome1
GO:0034260
IEA
Genome Projectnegative regulation of GTPase activity
GO:0033365
ISS
Genome Projectprotein localization to organelle
GO:0033365
ISS
Gene Ontologyprotein localization to organelle
GO:0032465
IMP
Genome Projectregulation of cytokinesis
GO:0032465
IMP
Gene Ontologyregulation of cytokinesis1
GO:0032402
ISS
Genome Projectmelanosome transport
GO:0032402
ISS
Gene Ontologymelanosome transport
GO:0030837
IEA
Genome Projectnegative regulation of actin filament polymerization
GO:0030534
ISS
Genome Projectadult behavior
GO:0030534
ISS
Gene Ontologyadult behavior
GO:0021987
ISS
Genome Projectcerebral cortex development
GO:0021987
ISS
Gene Ontologycerebral cortex development
GO:0021766
ISS
Genome Projecthippocampus development
GO:0021766
ISS
Gene Ontologyhippocampus development
GO:0021756
ISS
Genome Projectstriatum development
GO:0021756
ISS
Gene Ontologystriatum development
GO:0021591
IEA
Genome Projectventricular system development
GO:0019216
ISS
Genome Projectregulation of lipid metabolic process
GO:0019216
ISS
Gene Ontologyregulation of lipid metabolic process
GO:0016358
ISS
Genome Projectdendrite development
GO:0016358
ISS
Gene Ontologydendrite development
GO:0015031
IEA
Genome Projectprotein transport
GO:0010629
IEA
Genome Projectnegative regulation of gene expression
GO:0007608
ISS
Genome Projectsensory perception of smell
GO:0007608
ISS
Gene Ontologysensory perception of smell
GO:0007601
IEA
Genome Projectvisual perception
GO:0007286
ISS
Genome Projectspermatid development
GO:0007286
ISS
Gene Ontologyspermatid development
GO:0007098
IMP
Genome Projectcentrosome cycle
GO:0007098
IMP
Gene Ontologycentrosome cycle1
GO:0003085
IEA
Genome Projectnegative regulation of systemic arterial blood pressure
GO:0001947
ISS
Genome Projectheart looping
GO:0001947
ISS
Gene Ontologyheart looping
GO:0001895
ISS
Genome Projectretina homeostasis
GO:0001895
ISS
Gene Ontologyretina homeostasis
GO:0001843
ISS
Genome Projectneural tube closure
GO:0001843
ISS
Gene Ontologyneural tube closure
GO:0001764
IEA
Genome Projectneuron migration
GO:0000281
IMP
Genome Projectmitotic cytokinesis
GO:0000281
IMP
Gene Ontologymitotic cytokinesis1
GO:0000226
ISS
Genome Projectmicrotubule cytoskeleton organization
GO:0000226
ISS
Gene Ontologymicrotubule cytoskeleton organization

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0048487
IDA
Genome Projectbeta-tubulin binding
GO:0048487
IDA
Gene Ontologybeta-tubulin binding5
GO:0043014
IDA
Genome Projectalpha-tubulin binding
GO:0043014
IDA
Gene Ontologyalpha-tubulin binding5
GO:0034452
IDA
Genome Projectdynactin binding
GO:0034452
IDA
Gene Ontologydynactin binding1
GO:0005515
IPI
Genome Projectprotein binding
GO:0005515
IPI
Gene Ontologyprotein binding1 2 5 6 7 8 9 10 11 12 13 14 15 16
GO:0003777
IMP
Genome Projectmicrotubule motor activity
GO:0003777
IMP
Gene Ontologymicrotubule motor activity1
GO:0001103
IPI
Genome ProjectRNA polymerase II repressing transcription factor binding
GO:0001103
IPI
Gene OntologyRNA polymerase II repressing transcription factor binding17

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0097730
IDA
Genome Projectnon-motile cilium
GO:0097730
IDA
Gene Ontologynon-motile cilium5
GO:0060170
IDA
Genome Projectciliary membrane
GO:0060170
IDA
Gene Ontologyciliary membrane5
GO:0036064
IDA
Genome Projectciliary basal body
GO:0036064
IDA
Gene Ontologyciliary basal body1 18
GO:0035869
IDA
Genome Projectciliary transition zone
GO:0035869
IDA
Gene Ontologyciliary transition zone2
GO:0034464
IDA
Genome ProjectBBSome
GO:0034464
IDA
Gene OntologyBBSome5 11 19
GO:0034451
IDA
Genome Projectcentriolar satellite
GO:0034451
IDA
Gene Ontologycentriolar satellite1 2 11
GO:0032391
IEA
Genome Projectphotoreceptor connecting cilium
GO:0031514
IDA
Genome Projectmotile cilium
GO:0031514
IDA
Gene Ontologymotile cilium18
GO:0005929
IDA
Genome Projectcilium
GO:0005929
IDA
Gene Ontologycilium2 11
GO:0005829
IDA
TAS
Genome Projectcytosol
GO:0005829
IDA
TAS
Gene Ontologycytosol
GO:0005814
IDA
Genome Projectcentriole
GO:0005814
IDA
Gene Ontologycentriole1
GO:0005813
IDA
Genome Projectcentrosome
GO:0005813
IDA
Gene Ontologycentrosome4 8 10 11
GO:0005634
IEA
Genome Projectnucleus
GO:0001917
IEA
Genome Projectphotoreceptor inner segment
GO:0001750
IEA
Genome Projectphotoreceptor outer segment
GO:0000242
IDA
Genome Projectpericentriolar material
GO:0000242
IDA
Gene Ontologypericentriolar material1

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR011990Tetratricopeptide-like helical domain superfamily
IPR013026Tetratricopeptide repeat-containing domain
IPR019734Tetratricopeptide repeat

No MapMan annotations defined for this gene.
KeggID Description
K16531BBS4; Bardet-Biedl syndrome 4 protein
No chloroplast target sequence found.