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

Gene ID: 28962, updated on 13-Mar-2020

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

Genomic context

See OSTM1 in Genome Data Viewer
Location:
6q21
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (108041409..108074741, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (108362613..108395941, 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

Process Evidence Code Pubs
ion transmembrane transport TAS
Traceable Author Statement
more info
 
osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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.

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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