InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: BBS4

Summary

InnateDB Gene

IDBG-645611.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BBS4

Gene Name

Bardet-Biedl syndrome 4 protein homolog

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000007614

Encoded Proteins

IDBP-698334

Bardet-Biedl syndrome 4 protein homolog

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000140463:
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009]
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein\'s shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 10:19317484-19363592

Strand

Forward strand

Band

Transcripts

ENSBTAT00000010013

ENSBTAP00000010013

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 38 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	38 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001103	RNA polymerase II repressing transcription factor binding
GO:0003777	microtubule motor activity
GO:0005515	protein binding
GO:0034452	dynactin binding
GO:0043014	alpha-tubulin binding
GO:0048487	beta-tubulin binding

Biological Process

GO:0000226	microtubule cytoskeleton organization
GO:0000281	mitotic cytokinesis
GO:0001843	neural tube closure
GO:0001895	retina homeostasis
GO:0003085	negative regulation of systemic arterial blood pressure
GO:0006810	transport
GO:0007286	spermatid development
GO:0007608	sensory perception of smell
GO:0008104	protein localization
GO:0008152	metabolic process
GO:0010629	negative regulation of gene expression
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:0030030	cell projection organization
GO:0030534	adult behavior
GO:0032465	regulation of cytokinesis
GO:0033210	leptin-mediated signaling pathway
GO:0033365	protein localization to organelle
GO:0034454	microtubule anchoring at centrosome
GO:0035058	nonmotile primary cilium assembly
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway
GO:0040018	positive regulation of multicellular organism growth
GO:0042384	cilium assembly
GO:0044321	response to leptin
GO:0045444	fat cell differentiation
GO:0045494	photoreceptor cell maintenance
GO:0045724	positive regulation of cilium assembly
GO:0046548	retinal rod cell development
GO:0048854	brain morphogenesis
GO:0051297	centrosome organization
GO:0051457	maintenance of protein location in nucleus
GO:0060271	cilium morphogenesis
GO:0060296	regulation of cilium beat frequency involved in ciliary motility
GO:0071539	protein localization to centrosome

Cellular Component

GO:0000242	pericentriolar material
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0005814	centriole
GO:0005815	microtubule organizing center
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0005929	cilium
GO:0016020	membrane
GO:0031513	nonmotile primary cilium
GO:0031514	motile cilium
GO:0034451	centriolar satellite
GO:0034464	BBSome
GO:0036064	ciliary basal body
GO:0042995	cell projection
GO:0060170	ciliary membrane

Orthologs

Species

Homo sapiens

Mus musculus

Gene ID

Gene Order

ENSG00000140463

View Gene Order

ENSMUSG00000025235

View Gene Order

Cross-References

SwissProt

Q1JQ97

TrEMBL

UniProt Splice Variant

Entrez Gene

532120

UniGene

Bt.7716

RefSeq

NM_001075956

HUGO

OMIM

CCDS

HPRD

IMGT

EMBL

BC116137

GenPept

AAI16138

RNA Seq Atlas

532120