InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Bbs4

Summary

InnateDB Gene

IDBG-172547.6

Last Modified

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

Gene Symbol

Bbs4

Gene Name

Bardet-Biedl syndrome 4 (human)

Synonyms

AW537059; AW742241; D9Ertd464e

Species

Mus musculus

Ensembl Gene

ENSMUSG00000025235

Encoded Proteins

IDBP-172549

Bardet-Biedl syndrome 4 (human)

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 9:59321966-59353508

Strand

Reverse strand

Band

Transcripts

ENSMUST00000026265

ENSMUSP00000026265

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 31 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	31 [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: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: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:0005813	centrosome
GO:0005814	centriole
GO:0005929	cilium
GO:0031513	nonmotile primary cilium
GO:0031514	motile cilium
GO:0034451	centriolar satellite
GO:0034464	BBSome
GO:0036064	ciliary basal body
GO:0060170	ciliary membrane

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000140463

View Gene Order

ENSBTAG00000007614

Not yet available

Cross-References

SwissProt

Q8C1Z7

TrEMBL

A6H669

UniProt Splice Variant

Entrez Gene

102774

UniGene

Mm.200714

RefSeq

NM_175325

OMIM

CCDS

CCDS40658

HPRD

IMGT

MGI ID

MGI:2143311

MGI Symbol

Bbs4

EMBL

AK039560 AK089970 AK134734 BC055797 BC089507 BC092531 BC145771 BC145773 CH466522

GenPept

AAH55797 AAH89507 AAH92531 AAI45772 AAI45774 BAC30384 BAC41021 BAE22262 EDL25965

RNA Seq Atlas

102774