Biology:OSTM1
 Generic protein structure example |
| Osteopetrosis-associated transmembrane protein 1 precursor | |||||||||
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| Identifiers | |||||||||
| Symbol | OSTMP1 | ||||||||
| Pfam | PF09777 | ||||||||
| InterPro | IPR019172 | ||||||||
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Osteopetrosis-associated transmembrane protein 1 is a protein that in humans is encoded by the OSTM1 gene.[1][2][3] It is required for osteoclast and melanocyte maturation and function.[1]
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.[3] This is also known as autosomal recessive Albers-Schonberg disease.[1][4]
The OSTM1 gene is regulated by the Microphthalmia-associated transcription factor.[5][6]
Interactions
OSTM1 has been shown to interact with RGS19.[7]
References
- ↑ 1.0 1.1 1.2 "Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human". Nat Med 9 (4): 399–406. Apr 2003. doi:10.1038/nm842. PMID 12627228.
- ↑ "Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci". Genomics 80 (1): 45–53. Jun 2002. doi:10.1006/geno.2002.6795. PMID 12079282.
- ↑ 3.0 3.1 "Entrez Gene: OSTM1 osteopetrosis associated transmembrane protein 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=28962.
- ↑ "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. July 2006. doi:10.1359/jbmr.060403. PMID 16813530.
- ↑ "The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor". J. Biol. Chem. 282 (3): 1891–904. 2007. doi:10.1074/jbc.M608572200. PMID 17105730.
- ↑ "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. 2008. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ↑ "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. Jul 2003. doi:10.1073/pnas.1432965100. PMID 12826607. Bibcode: 2003PNAS..100.8270F.
Further reading
- "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. 2001. doi:10.1101/gr.140200. PMID 11042152.
- "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. 2003. doi:10.1073/pnas.1432965100. PMID 12826607. Bibcode: 2003PNAS..100.8270F.
- "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. 2004. doi:10.1002/humu.20028. PMID 15108279.
- "Severe malignant osteopetrosis caused by a GL gene mutation". J. Bone Miner. Res. 19 (7): 1194–9. 2004. doi:10.1359/JBMR.040407. PMID 15177004.
- "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. 2007. doi:10.1093/dnares/12.2.117. PMID 16303743.
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