Osteopetrosis-associated transmembrane protein 1 is a protein that in humans is encoded by the OSTM1 gene.[5][6][7] It is required for osteoclast and melanocyte maturation and function.[5]

OSTM1
Identifiers
AliasesOSTM1, GIPN, GL, OPTB5, HSPC019, osteopetrosis associated transmembrane protein 1, osteoclastogenesis associated transmembrane protein 1
External IDsOMIM: 607649; MGI: 2655574; HomoloGene: 32203; GeneCards: OSTM1; OMA:OSTM1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014028

NM_172416

RefSeq (protein)

NP_054747

NP_766004

Location (UCSC)Chr 6: 108.04 – 108.17 MbChr 10: 42.46 – 42.58 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Osteopetrosis-associated transmembrane protein 1 precursor
Identifiers
SymbolOSTMP1
PfamPF09777
InterProIPR019172
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary

Function

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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.[7] This is also known as autosomal recessive Albers-Schonberg disease.[5][8]

The OSTM1 gene is regulated by the Microphthalmia-associated transcription factor.[9][10]

Interactions

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OSTM1 has been shown to interact with RGS19.[11]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000081087Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038280Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 13113716.
  6. ^ 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.
  7. ^ a b "Entrez Gene: OSTM1 osteopetrosis associated transmembrane protein 1".
  8. ^ 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. S2CID 29269032.
  9. ^ 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.
  10. ^ 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. S2CID 24698373.
  11. ^ 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. Bibcode:2003PNAS..100.8270F. doi:10.1073/pnas.1432965100. PMC 166218. PMID 12826607.

Further reading

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