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BBS4

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GENERAL INFORMATION

Gene name

 BBS4

Gene description

 Bardet-Biedl syndrome 4

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the cytosol.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Cytosol (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA039418
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the cytosol.

Main location

 Cytosol (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA039418 A-431 Cytosol
HPA039418 U-2 OS Cytosol
HPA039418 U-251 MG Cytosol

GENE INFORMATION

Gene name

 BBS4

Synonyms

Description

 Bardet-Biedl syndrome 4 (HGNC Symbol)

Entrez gene summary

 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 seven other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Oct 2014]

Chromosome

 15

Cytoband

 q24.1

Chromosome location (bp)

 72686179 - 72738476

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000140463 (version 83.38)

Entrez gene

 585

UniProt

 Q96RK4 (UniProt - Evidence at protein level)

neXtProt

 NX_Q96RK4

Antibodypedia

 BBS4 antibodies

PROTEIN BROWSER
BBS4-001
BBS4-011
BBS4-013
BBS4-016
BBS4-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BBS4-001
ENSP00000268057
ENST00000268057
Q96RK4 [Direct mapping]
Bardet-Biedl syndrome 4 protein
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0000242 [pericentriolar material]
GO:0000281 [mitotic cytokinesis]
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0001750 [photoreceptor outer segment]
GO:0001764 [neuron migration]
GO:0001843 [neural tube closure]
GO:0001895 [retina homeostasis]
GO:0001917 [photoreceptor inner segment]
GO:0001947 [heart looping]
GO:0003085 [negative regulation of systemic arterial blood pressure]
GO:0003777 [microtubule motor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005829 [cytosol]
GO:0005929 [cilium]
GO:0006996 [organelle organization]
GO:0007286 [spermatid development]
GO:0007601 [visual perception]
GO:0007608 [sensory perception of smell]
GO:0008104 [protein localization]
GO:0010629 [negative regulation of gene expression]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0016358 [dendrite development]
GO:0019216 [regulation of lipid metabolic process]
GO:0021591 [ventricular system development]
GO:0021756 [striatum development]
GO:0021766 [hippocampus development]
GO:0021987 [cerebral cortex development]
GO:0030534 [adult behavior]
GO:0030837 [negative regulation of actin filament polymerization]
GO:0031513 [nonmotile primary cilium]
GO:0031514 [motile cilium]
GO:0032391 [photoreceptor connecting cilium]
GO:0032402 [melanosome transport]
GO:0032465 [regulation of cytokinesis]
GO:0033210 [leptin-mediated signaling pathway]
GO:0033365 [protein localization to organelle]
GO:0034260 [negative regulation of GTPase activity]
GO:0034451 [centriolar satellite]
GO:0034452 [dynactin binding]
GO:0034454 [microtubule anchoring at centrosome]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0035176 [social behavior]
GO:0035845 [photoreceptor cell outer segment organization]
GO:0035869 [ciliary transition zone]
GO:0036064 [ciliary basal body]
GO:0038108 [negative regulation of appetite by leptin-mediated signaling pathway]
GO:0040018 [positive regulation of multicellular organism growth]
GO:0042384 [cilium assembly]
GO:0043014 [alpha-tubulin binding]
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:0046907 [intracellular transport]
GO:0048487 [beta-tubulin binding]
GO:0048854 [brain morphogenesis]
GO:0050893 [sensory processing]
GO:0051297 [centrosome organization]
GO:0051457 [maintenance of protein location in nucleus]
GO:0051492 [regulation of stress fiber assembly]
GO:0060170 [ciliary membrane]
GO:0060271 [cilium morphogenesis]
GO:0060296 [regulation of cilium beat frequency involved in ciliary motility]
GO:0060324 [face development]
GO:0060613 [fat pad development]
GO:0061512 [protein localization to cilium]
GO:0071539 [protein localization to centrosome]
GO:1902855 [regulation of nonmotile primary cilium assembly]
GO:1903546 [protein localization to photoreceptor outer segment]
Show all
 519 aa
58.3 kDa 		No 0
BBS4-011
ENSP00000455958
ENST00000566829
H3BQV7 [Direct mapping]
Bardet-Biedl syndrome 4 protein
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
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 141 aa
16.3 kDa 		No 0
BBS4-013
ENSP00000457479
ENST00000566197
H3BU58 [Direct mapping]
Bardet-Biedl syndrome 4 protein
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   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   TMHMM predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016021 [integral component of membrane]
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 181 aa
19.5 kDa 		No 0
BBS4-016
ENSP00000456758
ENST00000569338
H3BSL2 [Direct mapping]
Bardet-Biedl syndrome 4 protein
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 281 aa
32.2 kDa 		No 0
BBS4-201
ENSP00000378631
ENST00000395205
Q96RK4 [Direct mapping]
Bardet-Biedl syndrome 4 protein
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0000242 [pericentriolar material]
GO:0000281 [mitotic cytokinesis]
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0001843 [neural tube closure]
GO:0001895 [retina homeostasis]
GO:0001947 [heart looping]
GO:0003777 [microtubule motor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005829 [cytosol]
GO:0005929 [cilium]
GO:0006996 [organelle organization]
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:0031513 [nonmotile primary cilium]
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:0035058 [nonmotile primary cilium assembly]
GO:0035869 [ciliary transition zone]
GO:0036064 [ciliary basal body]
GO:0038108 [negative regulation of appetite by leptin-mediated signaling pathway]
GO:0042384 [cilium assembly]
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:0051297 [centrosome organization]
GO:0051457 [maintenance of protein location in nucleus]
GO:0060170 [ciliary membrane]
GO:0060271 [cilium morphogenesis]
GO:0060296 [regulation of cilium beat frequency involved in ciliary motility]
GO:0061512 [protein localization to cilium]
GO:0071539 [protein localization to centrosome]
Show all
 347 aa
38.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.