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

    Gene ID: 129880, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:970
    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
    NEW
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    Genomic context

    See BBS5 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169479494..169506655)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (169956107..169983895)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (170336004..170363165)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr2:169977784-169977942 Neighboring gene NANOG hESC enhancer GRCh37_chr2:169992762-169993275 Neighboring gene UBE2V1 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 15259 Neighboring gene LDL receptor related protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170164967-170165129 Neighboring gene MPRA-validated peak3915 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170213948-170214132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:170218895-170219528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:170219529-170220162 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170308062-170308217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16738 Neighboring gene MPRA-validated peak3917 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170393950-170394098 Neighboring gene kelch like family member 41 Neighboring gene FAST kinase domains 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:170429982-170430584

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Potential readthrough

    Included gene: KLHL41

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cilium assembly  
    involved_in cilium assembly PubMed 
    involved_in cilium assembly PubMed 
    involved_in heart looping  
    involved_in intracellular transport  
    involved_in melanosome transport  
    involved_in motile cilium assembly  
    involved_in protein transport  
    involved_in visual perception  
    Component Evidence Code Pubs
    part_of BBSome  
    part_of BBSome PubMed 
    part_of BBSome PubMed 
    located_in axoneme  
    located_in centriolar satellite  
    is_active_in ciliary basal body  
    located_in ciliary basal body  
    located_in ciliary membrane PubMed 
    located_in cytosol  

    General protein information

    Preferred Names
    BBSome complex member BBS5
    Names
    bardet-Biedl syndrome 5 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4999..32160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152384.3 → NP_689597.1  BBSome complex member BBS5

      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
      D3DPC3, Q6PKN0, Q8N3I7
      UniProtKB/TrEMBL
      A0A0S2Z626
      Related
      ENSP00000295240.3, ENST00000295240.8
      Conserved Domains (1) summary
      pfam07289
      Location:7 → 339
      BBL5; Bardet-Biedl syndrome 5 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      169479494..169506655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      169956107..169983895
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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