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BBS10 Bardet-Biedl syndrome 10 [ Homo sapiens (human) ]

Gene ID: 79738, updated on 4-May-2020

Summary

Official Symbol
BBS10provided by HGNC
Official Full Name
Bardet-Biedl syndrome 10provided by HGNC
Primary source
HGNC:HGNC:26291
See related
Ensembl:ENSG00000179941 MIM:610148
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C12orf58
Summary
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their 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 is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
Expression
Ubiquitous expression in fat (RPKM 8.6), adrenal (RPKM 7.7) and 24 other tissues See more
Orthologs

Genomic context

See BBS10 in Genome Data Viewer
Location:
12q21.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (76344474..76348415, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (76738266..76742222, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene lncRNA osteogenesis associated Neighboring gene RN7SK pseudogene 172 Neighboring gene oxysterol binding protein like 8 Neighboring gene uncharacterized LOC105369850 Neighboring gene ribosomal protein L7a pseudogene 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23560

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chaperone-mediated protein complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chaperone-mediated protein complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
Bardet-Biedl syndrome 10 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016357.1 RefSeqGene

    Range
    5028..8969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1255

mRNA and Protein(s)

  1. NM_024685.4NP_078961.3  Bardet-Biedl syndrome 10 protein

    See identical proteins and their annotated locations for NP_078961.3

    Status: REVIEWED

    Source sequence(s)
    AI673014, BC013795, BC026355, CA414269, DR155669
    Consensus CDS
    CCDS9014.2
    UniProtKB/Swiss-Prot
    Q8TAM1
    Related
    ENSP00000497413.1, ENST00000650064.2
    Conserved Domains (1) summary
    cl02777
    Location:11426
    chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    76344474..76348415 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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