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Aliases for OSTM1 Gene

Aliases for OSTM1 Gene

  • Osteopetrosis Associated Transmembrane Protein 1 2 3
  • GL 3 4 6
  • Chloride Channel 7 Beta Subunit 3 4
  • CLCN7 Accessory Beta Subunit 2 3
  • OPTB5 3 6
  • Osteopetrosis-Associated Transmembrane Protein 1 3
  • GAIP-Interacting Protein N Terminus 3
  • Grey-Lethal Osteopetrosis 3
  • HSPC019 3
  • GIPN 3

External Ids for OSTM1 Gene

Previous GeneCards Identifiers for OSTM1 Gene

  • GC06M108364
  • GC06M108409
  • GC06M108470
  • GC06M105930
  • GC06M108363

Summaries for OSTM1 Gene

Entrez Gene Summary for OSTM1 Gene

  • 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]

GeneCards Summary for OSTM1 Gene

OSTM1 (Osteopetrosis Associated Transmembrane Protein 1) is a Protein Coding gene. Diseases associated with OSTM1 include osteopetrosis, autosomal recessive 5 and astley-kendall syndrome. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds.

UniProtKB/Swiss-Prot for OSTM1 Gene

  • Required for osteoclast and melanocyte maturation and function.

Gene Wiki entry for OSTM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSTM1 Gene

Genomics for OSTM1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for OSTM1 Gene

108,041,409 bp from pter
108,165,854 bp from pter
124,446 bases
Minus strand

Genomic View for OSTM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OSTM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSTM1 Gene

No data available for Regulatory Elements for OSTM1 Gene

Proteins for OSTM1 Gene

  • Protein details for OSTM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Osteopetrosis-associated transmembrane protein 1
    Protein Accession:
    Secondary Accessions:
    • E1P5E3
    • Q5R391
    • Q6PCA7
    • Q7RTW6
    • Q8NC29
    • Q8TC82
    • Q9Y2S9

    Protein attributes for OSTM1 Gene

    334 amino acids
    Molecular mass:
    37257 Da
    Quaternary structure:
    • Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits.
    • Sequence=AAD27000.1; Type=Frameshift; Positions=221; Evidence={ECO:0000305};

neXtProt entry for OSTM1 Gene

Proteomics data for OSTM1 Gene at MOPED

Post-translational modifications for OSTM1 Gene

  • Highly N-glycosylated
  • Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein.
  • Ubiquitination at Lys321
  • Glycosylation at Asn93, Asn128, Asn135, Asn163, Asn177, Asn184, Asn194, Asn216, Asn263, and Asn274
  • Modification sites at PhosphoSitePlus

Other Protein References for OSTM1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for OSTM1 Gene

Domains for OSTM1 Gene

Protein Domains for OSTM1 Gene


Suggested Antigen Peptide Sequences for OSTM1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with OSTM1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for OSTM1 Gene

Function for OSTM1 Gene

Molecular function for OSTM1 Gene

UniProtKB/Swiss-Prot Function:
Required for osteoclast and melanocyte maturation and function.

Gene Ontology (GO) - Molecular Function for OSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with OSTM1: view
genes like me logo Genes that share phenotypes with OSTM1: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OSTM1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for OSTM1 Gene

Localization for OSTM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSTM1 Gene

Lysosome membrane; Single-pass type I membrane protein. Note=Requires CLCN7 to travel to lysosomes.

Subcellular locations from

Jensen Localization Image for OSTM1 Gene COMPARTMENTS Subcellular localization image for OSTM1 gene
Compartment Confidence
lysosome 5
vacuole 5
plasma membrane 3
cytosol 2
extracellular 2
endosome 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for OSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005765 lysosomal membrane TAS --
GO:0005829 cytosol IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OSTM1: view

Pathways for OSTM1 Gene

genes like me logo Genes that share pathways with OSTM1: view

Pathways by source for OSTM1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for OSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030316 osteoclast differentiation IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with OSTM1: view

Transcripts for OSTM1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OSTM1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSTM1 Gene

No ASD Table

Relevant External Links for OSTM1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OSTM1 Gene

mRNA expression in normal human tissues for OSTM1 Gene

Protein differential expression in normal tissues for OSTM1 Gene

This gene is overexpressed in Monocytes (19.3), Peripheral blood mononuclear cells (11.7), Retina (11.0), Placenta (9.6), and Testis (9.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for OSTM1 Gene

SOURCE GeneReport for Unigene cluster for OSTM1 Gene Hs.226780

genes like me logo Genes that share expressions with OSTM1: view

Expression partners for OSTM1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for OSTM1 Gene

Orthologs for OSTM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OSTM1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia OSTM1 35
  • 89.43 (n)
  • 89.64 (a)
OSTM1 36
  • 86 (a)
(Canis familiaris)
Mammalia OSTM1 35
  • 91.36 (n)
  • 93.27 (a)
OSTM1 36
  • 90 (a)
(Mus musculus)
Mammalia Ostm1 35
  • 79.58 (n)
  • 81.13 (a)
Ostm1 16
Ostm1 36
  • 77 (a)
(Pan troglodytes)
Mammalia OSTM1 35
  • 99.5 (n)
  • 99.7 (a)
OSTM1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Ostm1 35
  • 79.14 (n)
  • 83.11 (a)
(Monodelphis domestica)
Mammalia OSTM1 36
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia OSTM1 36
  • 79 (a)
(Gallus gallus)
Aves OSTM1 35
  • 70.16 (n)
  • 65.73 (a)
OSTM1 36
  • 57 (a)
(Anolis carolinensis)
Reptilia OSTM1 36
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ostm1 35
  • 61.74 (n)
  • 56.12 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3285 35
(Danio rerio)
Actinopterygii ostm1 35
  • 55.31 (n)
  • 51.77 (a)
ostm1 36
  • 41 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14969 36
  • 21 (a)
Species with no ortholog for OSTM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OSTM1 Gene

Gene Tree for OSTM1 (if available)
Gene Tree for OSTM1 (if available)

Paralogs for OSTM1 Gene

No data available for Paralogs for OSTM1 Gene

Variants for OSTM1 Gene

Sequence variations from dbSNP and Humsavar for OSTM1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs12567 -- 108,043,378(-) AGTGA(A/G)ATATA utr-variant-3-prime
rs916395 -- 108,061,197(-) GAATA(C/T)TGACT intron-variant
rs2027876 -- 108,066,028(-) ACTTT(C/T)ACCCC intron-variant
rs3198289 -- 108,042,691(-) CTCAT(A/G)CCTGT utr-variant-3-prime
rs3757301 -- 108,050,952(+) CCTAT(A/C)ACCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OSTM1 Gene

Variant ID Type Subtype PubMed ID
nsv820169 CNV Loss 19587683

Relevant External Links for OSTM1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSTM1 Gene

Disorders for OSTM1 Gene

(1) OMIM Diseases for OSTM1 Gene (607649)


  • Osteopetrosis, autosomal recessive 5 (OPTB5) [MIM:259720]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. {ECO:0000269 PubMed:12627228, ECO:0000269 PubMed:16813530}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for OSTM1 Gene

(2) Novoseek inferred disease relationships for OSTM1 Gene

Disease -log(P) Hits PubMed IDs
osteopetrosis 89.7 3
bone diseases 64.7 1

Relevant External Links for OSTM1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with OSTM1: view

No data available for Genatlas for OSTM1 Gene

Publications for OSTM1 Gene

  1. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. (PMID: 12627228) Chalhoub N. … Vacher J. (Nat. Med. 2003) 2 3 4 23
  2. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. (PMID: 21527911) Leisle L. … Stauber T. (EMBO J. 2011) 2 3 4
  3. Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. (PMID: 15108279) RamA-rez A. … Kubisch C. (Hum. Mutat. 2004) 3 23
  4. Severe malignant osteopetrosis caused by a GL gene mutation. (PMID: 15177004) Quarello P. … Ramenghi U. (J. Bone Miner. Res. 2004) 3 23
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for OSTM1 Gene

Sources for OSTM1 Gene

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