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    BBS12 Bardet-Biedl syndrome 12 [ Equus caballus (horse) ]

    Gene ID: 100072131, updated on 8-Mar-2024

    Summary

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    Gene symbol
    BBS12
    Gene description
    Bardet-Biedl syndrome 12
    See related
    Ensembl:ENSECAG00000003961
    Gene type
    protein coding
    RefSeq status
    INFERRED
    Organism
    Equus caballus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    chromosome: 2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    103 current EquCab3.0 (GCF_002863925.1) 2 NC_009145.3 (105753207..105780746, complement)
    102 previous assembly EquCab2.0 (GCF_000002305.2) 2 NC_009145.2 (105428314..105440191, complement)

    Chromosome 2 - NC_009145.3Genomic Context describing neighboring genes Neighboring gene nudix hydrolase 6 Neighboring gene uncharacterized LOC111772569 Neighboring gene fibroblast growth factor 2 Neighboring gene centrin 4 Neighboring gene U6 spliceosomal RNA

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Annotation of the Protein Coding Regions of the Equine Genome. Hestand MS, et al. PLoS One, 2015. PMID 26107351, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Bardet-Biedl syndrome 12 protein

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001257186.1 → NP_001244115.1  Bardet-Biedl syndrome 12 protein

      See identical proteins and their annotated locations for NP_001244115.1

      Status: INFERRED

      Source sequence(s)
      PJAA01000003
      UniProtKB/TrEMBL
      F6XYK3
      Conserved Domains (1) summary
      cl02777
      Location:9 → 229
      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: Equus caballus Annotation Release 103 details...Open this link in a new tab

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

    Reference EquCab3.0 Primary Assembly

    Genomic

    1. NC_009145.3 Reference EquCab3.0 Primary Assembly

      Range
      105753207..105780746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005607784.3 → XP_005607841.1  Bardet-Biedl syndrome 12 protein isoform X1

      See identical proteins and their annotated locations for XP_005607841.1

      UniProtKB/TrEMBL
      F6XYK3
      Related
      ENSECAP00000059861.1, ENSECAT00000096347.1
      Conserved Domains (1) summary
      cl02777
      Location:9 → 229
      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 ...
    Nucleotide Protein
    Heading Accession and Version

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