Entity Details

Primary name BBS4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96RK4
EntryNameBBS4_HUMAN
FullNameBardet-Biedl syndrome 4 protein
TaxID9606
Evidenceevidence at protein level
Length519
SequenceStatuscomplete
DateCreated2002-05-02
DateModified2021-06-02

Ontological Relatives

GenesBBS4

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0000242 pericentriolar material
GO:0000281 mitotic cytokinesis
GO:0001843 neural tube closure
GO:0001895 retina homeostasis
GO:0001947 heart looping
GO:0005634 nucleus
GO:0005813 centrosome
GO:0005814 centriole
GO:0005829 cytosol
GO:0005929 cilium
GO:0007098 centrosome cycle
GO:0007286 spermatid development
GO:0007601 visual perception
GO:0007608 sensory perception of smell
GO:0015031 protein transport
GO:0016358 dendrite development
GO:0019216 regulation of lipid metabolic process
GO:0021756 striatum development
GO:0021766 hippocampus development
GO:0021987 cerebral cortex development
GO:0030534 adult behavior
GO:0030674 protein-macromolecule adaptor activity
GO:0031514 motile cilium
GO:0032402 melanosome transport
GO:0032465 regulation of cytokinesis
GO:0033365 protein localization to organelle
GO:0034451 centriolar satellite
GO:0034452 dynactin binding
GO:0034454 microtubule anchoring at centrosome
GO:0034464 BBSome
GO:0035869 ciliary transition zone
GO:0036064 ciliary basal body
GO:0038108 negative regulation of appetite by leptin-mediated signaling pathway
GO:0043014 alpha-tubulin binding
GO:0045444 fat cell differentiation
GO:0045494 photoreceptor cell maintenance
GO:0045724 positive regulation of cilium assembly
GO:0046548 retinal rod cell development
GO:0046907 intracellular transport
GO:0048487 beta-tubulin binding
GO:0048854 brain morphogenesis
GO:0050893 sensory processing
GO:0051457 maintenance of protein location in nucleus
GO:0060170 ciliary membrane
GO:0060271 cilium assembly
GO:0060296 regulation of cilium beat frequency involved in ciliary motility
GO:0061512 protein localization to cilium
GO:0071539 protein localization to centrosome
GO:0097730 non-motile cilium
GO:1905515 non-motile cilium assembly

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR011990 Tetratricopeptide-like helical domain superfamilyFamilyHomologous superfamily
IPR019734 Tetratricopeptide repeatRepeatRepeat
IPR028786 Bardet-Biedl syndrome 4 proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
615982 OMIMBardet-Biedl syndrome 4 (BBS4)A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by variants affecting the gene represented in this entry.

Interactions

43 interactions

InteractorPartnerSourcesPublicationsLink
BBS4_HUMANACTB_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANACY1_HUMANIntAct18000879 details
BBS4_HUMANALDOB_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANBHMT1_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANCALCA_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANDCTN1_HUMANBioGRID, IntAct, UniProt15107855 18000879 details
BBS4_HUMANEF1A1_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANEIF3A_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANEPAS1_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANEXOC7_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANFHOD1_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANFLOT1_HUMANIntAct18000879 details
BBS4_HUMANHSC20_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANK1C18_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANPAX2_HUMANBioGRID, IntAct18000879 details
BBS4_HUMANPCM1_HUMANBioGRID, HPRD, IntAct, UniProt15107855 17574030 18000879 18772192 19081074 22500027 details
BBS4_HUMANPTHB1_HUMANBioGRID, DIP, IntAct17574030 19081074 20080638 27173435 29039417 unassigned1312 details
BBS4_HUMANBBIP1_HUMANIntAct19081074 22500027 29039417 details
BBS4_HUMANMYOG_HUMANBioGRID, IntAct25416956 details
BBS4_HUMANREL_HUMANBioGRID, IntAct26871637 details
BBS4_HUMANRARA_HUMANBioGRID, IntAct32296183 details
BBS4_HUMANOAS1_HUMANBioGRID, IntAct32296183 details
BBS4_HUMANZIC1_HUMANBioGRID, IntAct32296183 details
BBS4_HUMANSPIR1_HUMANBioGRID, IntAct32296183 details
BBS4_HUMANRARG_HUMANBioGRID, IntAct32296183 details
BBS4_HUMANC2CD6_HUMANBioGRID, IntAct32296183 details
BBS4_HUMANCC28B_HUMANDIP16327777 details
BBS4_HUMANPDIA1_HUMANIntAct32814053 details
BBS4_HUMANMYPR_HUMANIntAct32814053 details
BBS4_HUMANCALC_HUMANBioGRID18000879 details
BBS4_HUMANCE290_HUMANUniProt18772192 25552655 details
BBS4_HUMANBBS2_HUMANBioGRID, IntAct, UniProt17574030 19081074 22139371 22500027 25552655 27173435 unassigned1312 details
BBS4_HUMANBBS5_HUMANBioGRID, DIP, IntAct17574030 19081074 20080638 22500027 27173435 28514442 unassigned1312 details
BBS4_HUMANBBS7_HUMANBioGRID, DIP, IntAct17574030 19081074 20080638 22500027 27173435 28514442 unassigned1312 details
BBS4_HUMANBBS1_HUMANBioGRID, IntAct17574030 19081074 22500027 27173435 28514442 unassigned1312 details
BBS4_HUMANTTC8_HUMANBioGRID, IntAct17574030 19081074 22500027 27173435 unassigned1312 details
BBS4_HUMANRAB3I_HUMANIntAct17574030 details
BBS4_HUMANC2CD3_HUMANIntAct24997988 details
BBS4_HUMANTRAD1_HUMANBioGRID, IntAct27173435 unassigned1312 details
BBS4_HUMANT184B_HUMANBioGRID, IntAct27173435 unassigned1312 details
BBS4_HUMANFACE2_HUMANBioGRID, IntAct27173435 unassigned1312 details
BBS4_HUMANIQCB1_HUMANUniProt25552655 details
BBS4_HUMANBBS12_HUMANDIP20080638 details