OSTM1

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Osteopetrosis associated transmembrane protein 1
Identifiers
Symbol(s) OSTM1; GL; GIPN; HSPC019
External IDs OMIM: 607649 MGI: 2655574 HomoloGene: 32203
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 28962 14628
Ensembl ENSG00000081087 ENSMUSG00000038280
Uniprot Q86WC4 Q8BGT0
Refseq NM_014028 (mRNA)
NP_054747 (protein)		 NM_172416 (mRNA)
NP_766004 (protein)
Location Chr 6: 108.47 - 108.5 Mb Chr 10: 42.37 - 42.39 Mb
Pubmed search [1] [2]

Osteopetrosis associated transmembrane protein 1, also known as OSTM1, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: OSTM1 osteopetrosis associated transmembrane protein 1.

[edit] Further reading

  • Zhang QH, Ye M, Wu XY, et al. (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. PMID 11042152. 
  • Abrahams BS, Mak GM, Berry ML, et al. (2003). "Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci.". Genomics 80 (1): 45-53. PMID 12079282. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Chalhoub N, Benachenhou N, Rajapurohitam V, et al. (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. 
  • Fischer T, De Vries L, Meerloo T, Farquhar MG (2003). "Promotion of G alpha i3 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. PMID 12826607. 
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265-70. doi:10.1101/gr.1293003. PMID 12975309. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • Ramírez A, Faupel J, Goebel I, et al. (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. 
  • Quarello P, Forni M, Barberis L, et al. (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. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Otsuki T, Ota T, Nishikawa T, et al. (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. 
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