OSTM1
| OSTM1 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 6: 108.04 – 108.17 Mb | Chr 10: 42.46 – 42.58 Mb | ||||
| PubMed search | [3] | [4] | ||||
| View/Edit Human | View/Edit Mouse |
| Osteopetrosis-associated transmembrane protein 1 precursor | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| 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.[5][6][7] It is required for osteoclast and melanocyte maturation and function.[5]
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.
The OSTM1 gene is regulated by the Microphthalmia-associated transcription factor.[9][10]
Interactions
OSTM1 has been shown to
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000081087 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038280 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ S2CID 13113716.
- PMID 12079282.
- ^ a b "Entrez Gene: OSTM1 osteopetrosis associated transmembrane protein 1".
- S2CID 29269032.
- PMID 17105730.
- S2CID 24698373.
- 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. 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. 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. 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. 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. PMID 16303743.
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