OSTM1

Protein identityUniProt · HPA

UniProt accession

Q86WC4

Gene

OSTM1

Ensembl

ENSG00000081087

Chromosome

6

Canonical length

334 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Vesicles,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

334 residues, UniProt reviewed canonical sequence.

>Q86WC4|OSTM1
     1  MEPGPTAAQR RCSLPPWLPL GLLLWSGLAL GALPFGSSPH RVFHDLLSEQ QLLEVEDLSL
    61  SLLQGGGLGP LSLPPDLPDL DPECRELLLD FANSSAELTG CLVRSARPVR LCQTCYPLFQ
   121  QVVSKMDNIS RAAGNTSESQ SCARSLLMAD RMQIVVILSE FFNTTWQEAN CANCLTNNSE
   181  ELSNSTVYFL NLFNHTLTCF EHNLQGNAHS LLQTKNYSEV CKNCREAYKT LSSLYSEMQK
   241  MNELENKAEP GTHLCIDVED AMNITRKLWS RTFNCSVPCS DTVPVIAVSV FILFLPVVFY
   301  LSSFLHSEQK KRKLILPKRL KSSTSFANIQ ENSN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OSTM1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

22 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OSTM1.

Disease | AllUniProt

Conditions OSTM1 is implicated in, by any mechanism.

• Osteopetrosis, autosomal recessive 5 (OPTB5) MIM:259720

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 393 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive osteopetrosis 5
• Osteopetrosis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.74

gnomAD pLI

0.01

gnomAD missense Z

1.09

DepMap mean gene effect

0.08

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• osteoclast differentiation
• transepithelial chloride transport

Cellular components

• chloride channel complex
• cytosol
• lysosomal membrane

Protein domainsUniProt · Pfam · InterPro

• Osteopetrosis-associated transmembrane protein 1 precursor
• Osteopetrosis-associated transmembrane protein 1 precursor

KeywordsUniProt

• Glycoprotein
• Lysosome
• Membrane
• Osteopetrosis
• Phosphoprotein
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of OSTM1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CLCN7