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BBS5 Bardet-Biedl syndrome 5 [ Homo sapiens (human) ]

Gene ID: 129880, updated on 3-Jan-2019

Summary

Official Symbol
BBS5provided by HGNC
Official Full Name
Bardet-Biedl syndrome 5provided by HGNC
Primary source
HGNC:HGNC:970
See related
Ensembl:ENSG00000163093 MIM:603650
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
Summary
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
Expression
Broad expression in testis (RPKM 7.2), thyroid (RPKM 4.0) and 22 other tissues See more
Orthologs

Genomic context

See BBS5 in Genome Data Viewer
Location:
2q31.1
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (169479496..169506655)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (170335967..170363165)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 V1 pseudogene 6 Neighboring gene LDL receptor related protein 2 Neighboring gene kelch like family member 41 Neighboring gene FAST kinase domains 1

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • BBSome-mediated cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
    BBSome-mediated cargo-targeting to cilium, organism-specific biosystemThe BBSome is a stable complex consisting of 7 Bardet-Biedl proteins (BBS1, 2, 4, 5, 7, 8 and 9) and BBIP10 that has roles in promoting IFT and trafficking proteins to the cilum (Blacque et al, 2004;...
  • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
    Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: KLHL41

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome transport ISS
Inferred from Sequence or Structural Similarity
more info
 
motile cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
BBSome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BBSome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
Bardet-Biedl syndrome 5 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_011567.1 RefSeqGene

    Range
    5001..32160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152384.3NP_689597.1  Bardet-Biedl syndrome 5 protein

    See identical proteins and their annotated locations for NP_689597.1

    Status: REVIEWED

    Source sequence(s)
    AA043704, AC093899, AK097935, AL834305, AY604003, BC044593, BP311042, CA336791, CD245392, H09195
    Consensus CDS
    CCDS2233.1
    UniProtKB/Swiss-Prot
    Q8N3I7
    UniProtKB/TrEMBL
    A0A0S2Z626
    Related
    ENSP00000295240.3, ENST00000295240.7
    Conserved Domains (1) summary
    pfam07289
    Location:7339
    BBL5; Bardet-Biedl syndrome 5 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    169479496..169506655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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