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    Ostm1 osteoclastogenesis associated transmembrane protein 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 499474, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ostm1provided by RGD
    Official Full Name
    osteoclastogenesis associated transmembrane protein 1provided by RGD
    Primary source
    RGD:1564976
    See related
    EnsemblRapid:ENSRNOG00000037647 AllianceGenome:RGD:1564976
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Gipn
    Summary
    Predicted to be involved in osteoclast differentiation and transepithelial chloride transport. Predicted to be located in lysosomal membrane. Predicted to be part of chloride channel complex. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 5. Orthologous to human OSTM1 (osteoclastogenesis associated transmembrane protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Brain (RPKM 118.1), Kidney (RPKM 95.4) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Ostm1 in Genome Data Viewer
    Location:
    20q13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 20 NC_086038.1 (47653696..47769248)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 20 NC_051355.1 (46071657..46187049)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 20 NC_005119.4 (47394979..47430304)

    Chromosome 20 - NC_086038.1Genomic Context describing neighboring genes Neighboring gene sorting nexin 3 Neighboring gene nuclear receptor subfamily 2, group E, member 1 Neighboring gene uncharacterized LOC134483933 Neighboring gene G protein nucleolar 3, pseudogene 1 Neighboring gene SEC63 homolog, protein translocation regulator

    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. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. Leisle L, et al. EMBO J, 2011 Jun 1. PMID 21527911, Free PMC Article
    2. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Chalhoub N, et al. Nat Med, 2003 Apr. PMID 12627228
    3. Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP. Fischer T, et al. Proc Natl Acad Sci U S A, 2003 Jul 8. PMID 12826607, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Clone Names

    • MGC116111

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in osteoclast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within osteoclast differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in transepithelial chloride transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of chloride channel complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    osteopetrosis-associated transmembrane protein 1
    Names
    GAIP interacting protein N terminus
    osteopetrosis associated transmembrane protein 1
    osteopetrosis associated transmembrane protein 1-like

    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_001029925.2 → NP_001025096.1  osteopetrosis-associated transmembrane protein 1 precursor

      See identical proteins and their annotated locations for NP_001025096.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000020
      UniProtKB/TrEMBL
      F1LP89, Q4QQU9
      Related
      ENSRNOP00000091994.1, ENSRNOT00000114998.3
      Conserved Domains (1) summary
      pfam09777
      Location:88 → 332
      OSTMP1; Osteopetrosis-associated transmembrane protein 1 precursor

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086038.1 Reference GRCr8

      Range
      47653696..47769248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039099031.2 → XP_038954959.1  osteopetrosis-associated transmembrane protein 1 isoform X2

      Conserved Domains (1) summary
      pfam09777
      Location:1 → 181
      OSTMP1; Osteopetrosis-associated transmembrane protein 1 precursor

    2. XM_006256577.5 → XP_006256639.1  osteopetrosis-associated transmembrane protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A8J8Y8J8
      Conserved Domains (1) summary
      pfam09777
      Location:88 → 345
      OSTMP1; Osteopetrosis-associated transmembrane protein 1 precursor
    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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