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osteopetrosis-associated transmembrane protein 1 (OSTM1, GL, HSPC019, UNQ6098/PRO21201)
Function:
- role in osteoclast & melanocyte maturation & function
Compartment: membrane
Pathology:
- defects in OSTM1 are a cause of autosomal recessive osteopetrosis
General
glycoprotein
membrane protein
Properties
SIZE: MW = 37 kD
entity length = 334 aa
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-31}
N-glycosylation site {N93}
N-glycosylation site {N128}
N-glycosylation site {N135}
N-glycosylation site {N163}
N-glycosylation site {N177}
N-glycosylation site {N184}
N-glycosylation site {N194}
N-glycosylation site {N216}
N-glycosylation site {N263}
N-glycosylation site {N274}
transmembrane domain {285-305}
Database Correlations
OMIM correlations
MORBIDMAP 607649
UniProt Q86WC4
References
- UniProt :accession Q86WC4
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=OSTM1