MTX1

MTX1
Identifiers
Aliases	MTX1 , MTX, MTXN, metaxin 1
External IDs	OMIM: 600605; MGI: 103025; HomoloGene: 37623; GeneCards: MTX1; OMA:MTX1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q22 Start 155,208,695 bp [1] End 155,213,824 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3 F1|3 39.01 cM Start 89,116,388 bp [2] End 89,134,395 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis blood mucosa of transverse colon stromal cell of endometrium olfactory zone of nasal mucosa granulocyte right uterine tube right adrenal gland right adrenal cortex Top expressed in fossa condyle seminiferous tubule yolk sac spermatid spermatocyte submandibular gland Paneth cell right kidney tibiofemoral joint More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 4580 17827 Ensembl ENSG00000173171 ENSMUSG00000064068 UniProt Q13505 P47802 RefSeq (mRNA) NM_002455 NM_198883 NM_001161824 NM_013604 NM_001357367 RefSeq (protein) NP_002446 NP_942584 n/a Location (UCSC) Chr 1: 155.21 – 155.21 Mb Chr 3: 89.12 – 89.13 Mb PubMed search [3] [4]
Wikidata
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Metaxin 1, also known as MTX1, is a protein which in humans is encoded by the MTX1 gene. ^{[5] [6]}

Function

The metaxin gene, which encodes a protein located on the outer membrane of mitochondria, is a component of the mitochondrial protein translocation apparatus. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000173171 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000064068 – 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. "Entrez Gene: MTX1 metaxin 1".
6. 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. Bibcode:1995PNAS...92.4547B. doi: 10.1073/pnas.92.10.4547 . PMC   41981 . PMID   7753840.
7. 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. Archived from the original on April 15, 2013.

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. Bibcode:1995PNAS...92.4547B. 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. S2CID   38802766.
• 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. Bibcode:2002PNAS...9916899M. 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.