OSTM1

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
Aliases	OSTM1, GIPN, GL, OPTB5, HSPC019, osteopetrosis associated transmembrane protein 1, osteoclastogenesis associated transmembrane protein 1
External IDs	OMIM: 607649; MGI: 2655574; HomoloGene: 32203; GeneCards: OSTM1; OMA:OSTM1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q21 Start 108,041,409 bp[1] End 108,165,854 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 B2|10 22.89 cM Start 42,459,818 bp[2] End 42,578,455 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus popliteal artery tibial arteries stromal cell of endometrium monocyte left coronary artery epithelium of colon ascending aorta islet of Langerhans right coronary artery Top expressed in retinal pigment epithelium stroma of bone marrow iris facial motor nucleus substantia nigra ciliary body superior cervical ganglion interventricular septum Region I of hippocampus proper blood More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 28962 14628 Ensembl ENSG00000081087 ENSMUSG00000038280 UniProt Q86WC4 Q8BGT0 RefSeq (mRNA) NM_014028 NM_172416 RefSeq (protein) NP_054747 NP_766004 Location (UCSC) Chr 6: 108.04 – 108.17 Mb Chr 10: 42.46 – 42.58 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Osteopetrosis-associated transmembrane protein 1 precursor
Identifiers
Symbol	OSTMP1
Pfam	PF09777
InterPro	IPR019172
Available protein structures: Pfam   structures / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

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.^[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

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

References

1. GRCh38: Ensembl release 89: ENSG00000081087 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038280 – Ensembl, 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. 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. "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

• 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 (2001). "Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
• Fischer T, De Vries L, Meerloo T, Farquhar MG (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.
• Ramírez A, Faupel J, Goebel I, Stiller A, Beyer S, Stöckle C, Hasan C, Bode U, Kornak U, Kubisch C (2004). "Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis". Hum. Mutat. 23 (5): 471–6. doi:10.1002/humu.20028. PMID 15108279. S2CID 20404483.
• Quarello P, Forni M, Barberis L, Defilippi C, Campagnoli MF, Silvestro L, Frattini A, Chalhoub N, Vacher J, Ramenghi U (2004). "Severe malignant osteopetrosis caused by a GL gene mutation". J. Bone Miner. Res. 19 (7): 1194–9. doi:10.1359/JBMR.040407. PMID 15177004. S2CID 21395998.
• 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 (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.

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