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Aliases OSTM1, GIPN, GL, OPTB5, HSPC019, osteopetrosis associated transmembrane protein 1
External IDs MGI: 2655574 HomoloGene: 32203 GeneCards: OSTM1
RNA expression pattern
PBB GE OSTM1 218196 at fs.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr 6: 108.04 – 108.17 Mb Chr 10: 42.58 – 42.7 Mb
PubMed search [1] [2]
View/Edit Human View/Edit Mouse
Osteopetrosis-associated transmembrane protein 1 precursor
Symbol OSTMP1
Pfam PF09777
InterPro IPR019172

Osteopetrosis-associated transmembrane protein 1 is a protein that in humans is encoded by the OSTM1 gene.[3][4][5] It is required for osteoclast and melanocyte maturation and function.[3]


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.[5] This is also known as autosomal recessive Albers-Schonberg disease.[3][6]

The OSTM1 gene is regulated by the Microphthalmia-associated transcription factor.[7][8]


OSTM1 has been shown to interact with RGS19.[9]


  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b c Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J (Apr 2003). "Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human". Nat Med. 9 (4): 399–406. doi:10.1038/nm842. PMID 12627228. 
  4. ^ Abrahams BS, Mak GM, Berry ML, Palmquist DL, Saionz JR, Tay A, Tan YH, Brenner S, Simpson EM, Venkatesh B (Jun 2002). "Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci". Genomics. 80 (1): 45–53. doi:10.1006/geno.2002.6795. PMID 12079282. 
  5. ^ a b "Entrez Gene: OSTM1 osteopetrosis associated transmembrane protein 1". 
  6. ^ Pangrazio A, Poliani PL, Megarbane A, Lefranc G, Lanino E, Di Rocco M, Rucci F, Lucchini F, Ravanini M, Facchetti F, Abinun M, Vezzoni P, Villa A, Frattini A (July 2006). "Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement". J. Bone Miner. Res. 21 (7): 1098–105. doi:10.1359/jbmr.060403. PMID 16813530. 
  7. ^ Meadows NA, Sharma SM, Faulkner GJ, Ostrowski MC, Hume DA, Cassady AI (2007). "The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor". J. Biol. Chem. 282 (3): 1891–904. doi:10.1074/jbc.M608572200. PMID 17105730. 
  8. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  9. ^ Fischer T, De Vries L, Meerloo T, Farquhar MG (Jul 2003). "Promotion of Gαi3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP". Proc. Natl. Acad. Sci. U.S.A. 100 (14): 8270–5. doi:10.1073/pnas.1432965100. PMC 166218Freely accessible. PMID 12826607. 

Further reading[edit]

This article incorporates text from the public domain Pfam and InterPro IPR019172