MTX1
From Wikipedia, the free encyclopedia
Metaxin 1 | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||
Symbols | MTX1; MTX; MTXN | ||||||||||||
External IDs | OMIM: 600605 MGI: 103025 HomoloGene: 37623 GeneCards: MTX1 Gene | ||||||||||||
| |||||||||||||
RNA expression pattern | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 4580 | 17827 | |||||||||||
Ensembl | ENSG00000173171 | ENSMUSG00000064068 | |||||||||||
UniProt | Q13505 | P47802 | |||||||||||
RefSeq (mRNA) | NM_002455 | NM_001161824 | |||||||||||
RefSeq (protein) | NP_002446 | NP_001155296 | |||||||||||
Location (UCSC) | Chr 1: 155.18 – 155.18 Mb | Chr 3: 89.21 – 89.23 Mb | |||||||||||
PubMed search | |||||||||||||
Metaxin 1, also known as MTX1, is a protein which in humans is encoded by the MTX1 gene.[1][2]
Function
The metaxin gene, which encodes a protein located on the outer membrane of mitochondria, is a component of the mitochondrial protein translocation apparatus.[3]
References
- ↑ "Entrez Gene: MTX1 metaxin 1".
- ↑ Bornstein P, McKinney CE, LaMarca ME, Winfield S, Shingu T, Devarayalu S, Vos HL, Ginns EI (May 1995). "Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease". Proc. Natl. Acad. Sci. U.S.A. 92 (10): 4547–51. doi:10.1073/pnas.92.10.4547. PMC 41981. PMID 7753840.
- ↑ Armstrong LC, Komiya T, Bergman BE, Mihara K, Bornstein P (March 1997). "Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion". J. Biol. Chem. 272 (10): 6510–8. doi:10.1074/jbc.272.10.6510. PMID 9045676.
Further reading
- Bornstein P, McKinney CE, LaMarca ME et al. (1995). "Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease". Proc. Natl. Acad. Sci. U.S.A. 92 (10): 4547–51. doi:10.1073/pnas.92.10.4547. PMC 41981. PMID 7753840.
- Long GL, Winfield S, Adolph KW et al. (1997). "Structure and organization of the human metaxin gene (MTX) and pseudogene". Genomics 33 (2): 177–84. doi:10.1006/geno.1996.0181. PMID 8660965.
- Armstrong LC, Komiya T, Bergman BE et al. (1997). "Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion". J. Biol. Chem. 272 (10): 6510–8. doi:10.1074/jbc.272.10.6510. PMID 9045676.
- Winfield SL, Tayebi N, Martin BM et al. (1997). "Identification of Three Additional Genes Contiguous to the Glucocerebrosidase Locus on Chromosome 1q21: Implications for Gaucher Disease". Genome Res. 7 (10): 1020–6. doi:10.1101/gr.7.10.1020. PMC 310674. PMID 9331372.
- Armstrong LC, Saenz AJ, Bornstein P (1999). "Metaxin 1 interacts with metaxin 2, a novel related protein associated with the mammalian mitochondrial outer membrane". J. Cell. Biochem. 74 (1): 11–22. doi:10.1002/(SICI)1097-4644(19990701)74:1<11::AID-JCB2>3.0.CO;2-V. PMID 10381257.
- Abdul KM, Terada K, Yano M et al. (2000). "Functional analysis of human metaxin in mitochondrial protein import in cultured cells and its relationship with the Tom complex". Biochem. Biophys. Res. Commun. 276 (3): 1028–34. doi:10.1006/bbrc.2000.3589. PMID 11027586.
- Wang X, Ono K, Kim SO et al. (2001). "Metaxin is required for tumor necrosis factor-induced cell death". EMBO Rep. 2 (7): 628–33. doi:10.1093/embo-reports/kve135. PMC 1083949. PMID 11454742.
- 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. PMC 139241. PMID 12477932.
- LaMarca ME, Goldstein M, Tayebi N et al. (2004). "A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease". J. Hum. Genet. 49 (4): 220–2. doi:10.1007/s10038-004-0134-7. PMID 15024629.
- Ewing RM, Chu P, Elisma F et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- Kozjak-Pavlovic V, Ross K, Benlasfer N et al. (2007). "Conserved roles of Sam50 and metaxins in VDAC biogenesis". EMBO Rep. 8 (6): 576–82. doi:10.1038/sj.embor.7400982. PMC 2002532. PMID 17510655.
- Xie J, Marusich MF, Souda P et al. (2007). "The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11". FEBS Lett. 581 (18): 3545–9. doi:10.1016/j.febslet.2007.06.052. PMID 17624330.
This article is issued from Wikipedia. The text is available under the Creative Commons Attribution/Share Alike; additional terms may apply for the media files.