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Ostm1 osteopetrosis associated transmembrane protein 1 [ Mus musculus (house mouse) ]

Gene ID: 14628, updated on 18-Sep-2024

Summary

Official Symbol
Ostm1provided by MGI
Official Full Name
osteopetrosis associated transmembrane protein 1provided by MGI
Primary source
MGI:MGI:2655574
See related
Ensembl:ENSMUSG00000038280 AllianceGenome:MGI:2655574
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
gl; HSPC019; 1200002H13Rik
Summary
Acts upstream of or within osteoclast differentiation. Located in cytosol. Is expressed in several structures, including alimentary system; hemolymphoid system gland; nervous system; skeleton; and skin. Used to study autosomal recessive osteopetrosis 5. 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, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 21.2), adrenal adult (RPKM 15.6) and 28 other tissues See more
Orthologs
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Genomic context

See Ostm1 in Genome Data Viewer
Location:
10 B2; 10 22.89 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (42554912..42578458)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (42678916..42702462)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38491 Neighboring gene predicted gene 5036 Neighboring gene STARR-seq mESC enhancer starr_26492 Neighboring gene STARR-seq mESC enhancer starr_26493 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:42418909-42419167 Neighboring gene STARR-seq mESC enhancer starr_26494 Neighboring gene predicted gene 15199 Neighboring gene SEC63 homolog, protein translocation regulator

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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
 
acts_upstream_of_or_within osteoclast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transepithelial chloride transport IEA
Inferred from Electronic Annotation
more info
 
involved_in transepithelial chloride transport ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
osteopetrosis-associated transmembrane protein 1
Names
chloride channel 7 beta subunit
grey lethal osteopetrosis

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_172416.3NP_766004.1  osteopetrosis-associated transmembrane protein 1 precursor

    See identical proteins and their annotated locations for NP_766004.1

    Status: VALIDATED

    Source sequence(s)
    AF533890, AK044897, BB286500
    Consensus CDS
    CCDS23814.1
    UniProtKB/Swiss-Prot
    Q8BGT0
    Related
    ENSMUSP00000035516.6, ENSMUST00000040718.6
    Conserved Domains (1) summary
    pfam09777
    Location:88332
    OSTMP1; Osteopetrosis-associated transmembrane protein 1 precursor

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    42554912..42578458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)