OSTM1

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} {{Infobox protein family | Symbol = OSTMP1 | Name = Osteopetrosis-associated transmembrane protein 1 precursor | image = | width = | caption = | Pfam = PF09777 | Pfam_clan = | InterPro = IPR019172 | SMART = | PROSITE = | MEROPS = | SCOP = | TCDB = | OPM family = | OPM protein = | CAZy = | CDD = }} '''Osteopetrosis-associated transmembrane protein 1''' is a protein that in humans is encoded by the ''OSTM1'' gene.<ref name="pmid12627228">{{cite journal | vauthors = Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J | title = Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human | journal = Nat Med | volume = 9 | issue = 4 | pages = 399–406 | date = Apr 2003 | pmid = 12627228 | doi = 10.1038/nm842 | s2cid = 13113716 }}</ref><ref name="pmid12079282">{{cite journal | vauthors = Abrahams BS, Mak GM, Berry ML, Palmquist DL, Saionz JR, Tay A, Tan YH, Brenner S, Simpson EM, Venkatesh B | title = Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci | journal = Genomics | volume = 80 | issue = 1 | pages = 45–53 | date = Jun 2002 | pmid = 12079282 | doi = 10.1006/geno.2002.6795 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: OSTM1 osteopetrosis associated transmembrane protein 1| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=28962}}</ref> It is required for osteoclast and melanocyte maturation and function.<ref name="pmid12627228" />

== Function ==

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.<ref name="entrez" /> This is also known as autosomal recessive Albers-Schonberg disease.<ref name="pmid12627228" /><ref name="pmid16813530">{{cite journal | vauthors = 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 | title = Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement | journal = J. Bone Miner. Res. | volume = 21 | issue = 7 | pages = 1098–105 | date = July 2006 | pmid = 16813530 | doi = 10.1359/jbmr.060403 | s2cid = 29269032 | doi-access = free }}</ref>

The OSTM1 gene is regulated by the Microphthalmia-associated transcription factor.<ref name="pmid17105730">{{cite journal | vauthors = Meadows NA, Sharma SM, Faulkner GJ, Ostrowski MC, Hume DA, Cassady AI | title = The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor | journal = J. Biol. Chem. | volume = 282 | issue = 3 | pages = 1891–904 | year = 2007 | pmid = 17105730 | doi = 10.1074/jbc.M608572200 | doi-access = free }}</ref><ref name="pmidunknown">{{cite journal | vauthors = Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res. | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x | s2cid = 24698373 | doi-access = free }}</ref>

== Interactions ==

OSTM1 has been shown to interact with RGS19.<ref name=pmid12826607>{{cite journal | vauthors = Fischer T, De Vries L, Meerloo T, Farquhar MG | title = Promotion of Gαi3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 100 | issue = 14 | pages = 8270–5 | date = Jul 2003 | pmid = 12826607 | pmc = 166218 | doi = 10.1073/pnas.1432965100 | bibcode = 2003PNAS..100.8270F | doi-access = free }}</ref>

== References == {{reflist}}

== Further reading == {{refbegin | 2}} * {{cite journal | vauthors = Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z | title = Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells | journal = Genome Res. | volume = 10 | issue = 10 | pages = 1546–60 | year = 2001 | pmid = 11042152 | pmc = 310934 | doi = 10.1101/gr.140200 }} * {{cite journal | vauthors = Fischer T, De Vries L, Meerloo T, Farquhar MG | title = Promotion of Gαi3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 100 | issue = 14 | pages = 8270–5 | year = 2003 | pmid = 12826607 | pmc = 166218 | doi = 10.1073/pnas.1432965100 | bibcode = 2003PNAS..100.8270F | doi-access = free }} * {{cite journal | vauthors = Ramírez A, Faupel J, Goebel I, Stiller A, Beyer S, Stöckle C, Hasan C, Bode U, Kornak U, Kubisch C | title = Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis | journal = Hum. Mutat. | volume = 23 | issue = 5 | pages = 471–6 | year = 2004 | pmid = 15108279 | doi = 10.1002/humu.20028 | s2cid = 20404483 | doi-access = free }} * {{cite journal | vauthors = Quarello P, Forni M, Barberis L, Defilippi C, Campagnoli MF, Silvestro L, Frattini A, Chalhoub N, Vacher J, Ramenghi U | title = Severe malignant osteopetrosis caused by a GL gene mutation | journal = J. Bone Miner. Res. | volume = 19 | issue = 7 | pages = 1194–9 | year = 2004 | pmid = 15177004 | doi = 10.1359/JBMR.040407 | s2cid = 21395998 | doi-access = free }} * {{cite journal | vauthors = Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T | title = Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries | journal = DNA Res. | volume = 12 | issue = 2 | pages = 117–26 | year = 2007 | pmid = 16303743 | doi = 10.1093/dnares/12.2.117 | doi-access = free }} {{refend}}

Category:Protein families