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 pro... See more...

Aliases for OSTM1 Gene

Aliases for OSTM1 Gene

  • Osteoclastogenesis Associated Transmembrane Protein 1 2 3 5
  • GL 2 3 4
  • Osteopetrosis Associated Transmembrane Protein 1 2 3
  • Osteopetrosis-Associated Transmembrane Protein 1 3 4
  • Chloride Channel 7 Beta Subunit 3 4
  • CLCN7 Accessory Beta Subunit 2 3
  • HSPC019 2 3
  • GAIP-Interacting Protein N Terminus 3
  • Grey-Lethal Osteopetrosis 3
  • Grey-Lethal 2
  • OPTB5 3
  • OSTM1 5
  • 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 (Osteoclastogenesis Associated Transmembrane Protein 1) is a Protein Coding gene. Diseases associated with OSTM1 include Osteopetrosis, Autosomal Recessive 5 and Infantile Osteopetrosis With Neuroaxonal Dysplasia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport.

UniProtKB/Swiss-Prot Summary for OSTM1 Gene

Gene Wiki entry for OSTM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OSTM1 Gene

Genomics for OSTM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OSTM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J108073 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 612.8 +91.3 91284 2.7 RNF2 SP1 ZBTB33 PRDM10 TFE3 ZNF692 POLR2A BACH1 LARP7 MTA2 OSTM1 ENSG00000238490 RF00017-5717 SEC63
GH06J108166 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 600.7 -1.0 -1047 2.2 PRDM10 ZNF629 KDM1A PRDM1 ZIC2 PATZ1 ZNF501 EZH2 ZNF600 ZNF341 OSTM1 NR2E1 lnc-OSTM1-1 OSTM1-AS1 ENSG00000279398 SNX3 MN298114-216
GH06J108133 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 12.6 +31.7 31719 1.5 RNF2 ATF7 TEAD4 PRDM10 ZNF629 ZNF692 RCOR2 JUND FOXA1 PRDM1 NR2E1 OSTM1 SEC63 OSTM1-AS1 piR-43107-264 lnc-OSTM1-1 MN298114-216
GH06J108127 Enhancer 1.1 Ensembl ENCODE 12.6 +37.8 37753 1 CREB1 GATAD2A PRDM10 ZNF629 TFE3 ZNF692 ZHX2 FOXA1 PRDM1 RFX1 NR2E1 OSTM1 OSTM1-AS1 piR-43107-264 lnc-OSTM1-1 SEC63 MN298114-216
GH06J108348 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.3 -184.2 -184187 4.5 SP1 BACH1 JUND TCF12 IKZF2 RCOR1 TRIM22 YY1 SCRT2 ARID3A NR2E1 OSTM1 ENSG00000279498 NONHSAG044548.2 piR-38579-038 MN298114-216 AFG1L FOXO3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OSTM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OSTM1

Genomic Locations for OSTM1 Gene

Genomic Locations for OSTM1 Gene
chr6:108,041,409-108,165,854
(GRCh38/hg38)
Size:
124,446 bases
Orientation:
Minus strand
chr6:108,362,613-108,487,058
(GRCh37/hg19)
Size:
124,446 bases
Orientation:
Minus strand

Genomic View for OSTM1 Gene

Genes around OSTM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSTM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSTM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSTM1 Gene

Proteins for OSTM1 Gene

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

    Protein Symbol:
    Q86WC4-OSTM1_HUMAN
    Recommended name:
    Osteopetrosis-associated transmembrane protein 1
    Protein Accession:
    Q86WC4
    Secondary Accessions:
    • E1P5E3
    • Q5R391
    • Q6PCA7
    • Q7RTW6
    • Q8NC29
    • Q8TC82
    • Q9Y2S9

    Protein attributes for OSTM1 Gene

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

neXtProt entry for OSTM1 Gene

Post-translational modifications for OSTM1 Gene

  • Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein.
  • Highly N-glycosylated.
  • Glycosylation at Asn93, Asn128, Asn135, Asn163, Asn177, Asn184, Asn194, Asn216, Asn263, and Asn274
  • Ubiquitination at Lys321
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • OSTM1_HUMAN (1589)

Other Protein References for OSTM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OSTM1 Gene

Domains & Families for OSTM1 Gene

Gene Families for OSTM1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for OSTM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OSTM1 Gene

GenScript: Design optimal peptide antigens:
  • Osteopetrosis associated transmembrane protein 1 (A6ZJA1_HUMAN)
  • Osteopetrosis-associated transmembrane protein 1 (OSTM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WC4

UniProtKB/Swiss-Prot:

OSTM1_HUMAN :
  • Belongs to the OSTM1 family.
Family:
  • Belongs to the OSTM1 family.
genes like me logo Genes that share domains with OSTM1: view

Function for OSTM1 Gene

Molecular function for OSTM1 Gene

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

Phenotypes From GWAS Catalog for OSTM1 Gene

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

Human Phenotype Ontology for OSTM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for OSTM1

CRISPR Products

miRNA for OSTM1 Gene

miRTarBase miRNAs that target OSTM1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSTM1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OSTM1 gene
Compartment Confidence
cytosol 4
lysosome 4
plasma membrane 3
extracellular 2
endosome 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OSTM1: view

Pathways & Interactions for OSTM1 Gene

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

Pathways by source for OSTM1 Gene

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 --
genes like me logo Genes that share ontologies with OSTM1: view

No data available for SIGNOR curated interactions for OSTM1 Gene

Drugs & Compounds for OSTM1 Gene

No Compound Related Data Available

Transcripts for OSTM1 Gene

mRNA/cDNA for OSTM1 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSTM1

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

No ASD Table

Relevant External Links for OSTM1 Gene

GeneLoc Exon Structure for
OSTM1

Expression for OSTM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OSTM1 Gene

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OSTM1 Gene



Protein tissue co-expression partners for OSTM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OSTM1

SOURCE GeneReport for Unigene cluster for OSTM1 Gene:

Hs.226780

Evidence on tissue expression from TISSUES for OSTM1 Gene

  • Blood(4.4)
  • Liver(4.4)
  • Nervous system(3.7)
  • Bone(2.2)
  • Eye(2.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OSTM1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with OSTM1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia OSTM1 30 31
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OSTM1 30 31
  • 91.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OSTM1 30 31
  • 89.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ostm1 30 17 31
  • 79.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ostm1 30
  • 79.14 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia OSTM1 31
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OSTM1 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves OSTM1 30 31
  • 70.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OSTM1 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ostm1 30
  • 61.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3285 30
Zebrafish
(Danio rerio)
Actinopterygii ostm1 30 31
  • 55.31 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG14969 31
  • 21 (a)
OneToOne
Species where no ortholog for OSTM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for OSTM1 (if available)
TreeFam:
Gene Tree for OSTM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OSTM1: view image

Paralogs for OSTM1 Gene

No data available for Paralogs for OSTM1 Gene

Variants for OSTM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OSTM1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
721075 Benign/Likely Benign: Osteopetrosis, autosomal recessive 5; not provided 108,064,207(-) T/C SYNONYMOUS_VARIANT
730482 Likely Benign: not provided 108,074,340(-) G/A SYNONYMOUS_VARIANT
788101 Benign: Osteopetrosis, autosomal recessive 5; not provided 108,044,830(-) G/C SYNONYMOUS_VARIANT
788538 Benign/Likely Benign: Osteopetrosis, autosomal recessive 5; not provided 108,054,482(-) T/C INTRON_VARIANT
802255 Pathogenic: Osteopetrosis, autosomal recessive 5 108,064,215(-) TA/T FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for OSTM1 Gene

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

Variant ID Type Subtype PubMed ID
esv3610308 CNV loss 21293372
nsv1031826 CNV loss 25217958
nsv472800 CNV novel sequence insertion 20440878
nsv604456 CNV loss 21841781
nsv820169 CNV loss 19587683

Variation tolerance for OSTM1 Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.71; 57.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSTM1 Gene

Human Gene Mutation Database (HGMD)
OSTM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSTM1

SNP Genotyping and Copy Number Assay Products

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

Disorders for OSTM1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for OSTM1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 5
  • optb5
infantile osteopetrosis with neuroaxonal dysplasia
osteopetrosis
  • albers-schonberg osteopetrosis
axial osteomalacia
  • atypical osteomalacia involving the axial skeleton
endosteal hyperostosis, autosomal dominant
  • hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
- elite association - COSMIC cancer census association via MalaCards
Search OSTM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OSTM1_HUMAN
  • 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.

Additional Disease Information for OSTM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Nature medicine 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 (The EMBO journal 2011) 2 3 4
  3. Secretion of a truncated osteopetrosis-associated transmembrane protein 1 (OSTM1) mutant inhibits osteoclastogenesis through down-regulation of the B lymphocyte-induced maturation protein 1 (BLIMP1)-nuclear factor of activated T cells c1 (NFATc1) axis. (PMID: 25359771) Shin B … Rho J (The Journal of biological chemistry 2014) 2 3
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 41
  5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 41

Products for OSTM1 Gene

Sources for OSTM1 Gene