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

    Gene ID: 28962, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:21652
    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
    mouse all
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    Genomic context

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    See OSTM1 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (108041409..108074741, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (109218461..109251819, complement)
    RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr6:108352965-108353466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:108353467-108353966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17446 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:108401031-108401700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:108438941-108439528 Neighboring gene uncharacterized LOC124901368 Neighboring gene OSTM1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24909 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:108479041-108479939 Neighboring gene NANOG hESC enhancer GRCh37_chr6:108481039-108481540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:108484466-108485367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:108486269-108487170 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:108488071-108488972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:108489873-108490774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:108490775-108491674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:108497591-108498326 Neighboring gene nuclear receptor subfamily 2 group E member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Castellano Chiodo D, et al. Neuropediatrics, 2007 Jun. PMID 17985267
    2. OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration. Vacher J. Bone, 2022 Oct. PMID 35902071
    3. Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. Ott CE, et al. Bone, 2013 Aug. PMID 23685543
    4. Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1. Ludwig CF, et al. J Biol Chem, 2013 Oct 4. PMID 23983121, Free PMC Article
    5. Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Ramírez A, et al. Hum Mutat, 2004 May. PMID 15108279

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration.
      Title: OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration.
    2. Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1.
      Title: Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1.
    3. Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepatitis B Virus Replication.
      Title: Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepatitis B Virus Replication.
    4. These studies defined bifunctional roles for Ostm1 as a major regulator of preosteoclast cytoskeletal rearrangements toward cell multinucleation and of mature osteoclast intracellular lysosomal trafficking and exocytosis mechanism, both of which are essential for bone resorption.
      Title: Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation.
    5. Homozygous splice defect in OSTM1, coexisting with MANEAL mutation was identified in a patient with neurological disorder with brain iron accumulation.
      Title: Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
    6. KIF5B is essential for Ostm1 intracellular dispersion.
      Title: Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.
    7. Ostm1 has a primary and autonomous role in neuronal homeostasis
      Title: Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.
    8. Common gating underlies the slow voltage activation of ClC-7.
      Title: Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.
    9. we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosi
      Title: Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.
    10. The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes.
      Title: ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive osteopetrosis 5
    MedGen: C1968603 OMIM: 259720 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    involved_in transepithelial chloride transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of chloride channel complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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_014028.4 → NP_054747.2  osteopetrosis-associated transmembrane protein 1 precursor

      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
      E1P5E3, Q5R391, Q6PCA7, Q7RTW6, Q86WC4, Q8NC29, Q8TC82, Q9Y2S9
      UniProtKB/TrEMBL
      A0A8V8TPT2
      Related
      ENSP00000193322.3, ENST00000193322.8
      Conserved Domains (1) summary
      pfam09777
      Location:84 → 328
      OSTMP1; Osteopetrosis-associated transmembrane protein 1 precursor

    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_000006.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047418679.1 → XP_047274635.1  osteopetrosis-associated transmembrane protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TPT7
      Related
      ENSP00000514450.1, ENST00000699577.1

    2. XM_047418680.1 → XP_047274636.1  osteopetrosis-associated transmembrane protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TNX7
      Related
      ENSP00000514451.1, ENST00000699578.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      109218461..109251819 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355240.1 → XP_054211215.1  osteopetrosis-associated transmembrane protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TPT7

    2. XM_054355241.1 → XP_054211216.1  osteopetrosis-associated transmembrane protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TNX7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WC4.1 GenPept UniProtKB/Swiss-Prot:Q86WC4

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