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    OSTM1 osteoclastogenesis associated transmembrane protein 1 [ Homo sapiens (human) ]

    Gene ID: 28962, updated on 8-Jul-2021

    Summary

    Official Symbol
    OSTM1provided by HGNC
    Official Full Name
    osteoclastogenesis associated transmembrane protein 1provided by HGNC
    Primary source
    HGNC:HGNC:21652
    See related
    Ensembl:ENSG00000081087 MIM:607649
    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
    GL; GIPN; OPTB5; HSPC019
    Summary
    This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 17.8), adrenal (RPKM 13.8) and 24 other tissues See more
    Orthologs
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    Genomic context

    See OSTM1 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (108041409..108074741, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (108362613..108395945, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L3 pseudogene 7 Neighboring gene uncharacterized LOC105377929 Neighboring gene OSTM1 antisense RNA 1 Neighboring gene nuclear receptor subfamily 2 group E member 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in osteoclast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    osteopetrosis-associated transmembrane protein 1
    Names
    CLCN7 accessory beta subunit
    GAIP-interacting protein N terminus
    chloride channel 7 beta subunit
    grey-lethal osteopetrosis
    osteopetrosis associated transmembrane protein 1

    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.

    Genomic

    1. NG_007262.1 RefSeqGene

      Range
      4997..38329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014028.4NP_054747.2  osteopetrosis-associated transmembrane protein 1

      See identical proteins and their annotated locations for NP_054747.2

      Status: REVIEWED

      Source sequence(s)
      AA428166, AF533891, AJ420489, AV715475, BE218267, BI668275, BQ716123, Z98200
      Consensus CDS
      CCDS5062.1
      UniProtKB/Swiss-Prot
      Q86WC4
      Related
      ENSP00000193322.3, ENST00000193322.8
      Conserved Domains (1) summary
      pfam09777
      Location:84328
      OSTMP1; Osteopetrosis-associated transmembrane protein 1 precursor

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      108041409..108074741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_942410.3 RNA Sequence

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