MTX1

MTX1
Identifiers
Aliases	MTX1 , MTX, MTXN, metaxin 1
External IDs	OMIM: 600605 MGI: 103025 HomoloGene: 37623 GeneCards: MTX1
Gene location (Human)
Chr.	Chromosome 1 (human)
End	155,213,824 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	89,134,395 bp
RNA expression pattern
	Top expressed in
	blood; ; stromal cell of endometrium; ; right uterine tube; ; Right adrenal gland; ; Left adrenal gland; ; monocyte; ; prefrontal cortex; ; placenta; ; spleen; ; kidney;
	Top expressed in
	fossa; ; condyle; ; seminiferous tubule; ; yolk sac; ; spermatid; ; spermatocyte; ; submandibular gland; ; Paneth cell; ; lip; ; medial ganglionic eminence;
	More reference expression data
	More reference expression data
Orthologs
	4580
	17827
	ENSG00000173171
	ENSMUSG00000064068
	Q13505
	P47802
	NM_002455 ; NM_198883
	NM_001161824 ; NM_013604 ; NM_001357367
	NP_002446 ; NP_942584
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 12, 2022

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]

Related Research Articles

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Chloride intracellular channel 4, also known as CLIC4, is a eukaryotic gene.

Mitochondrial import receptor subunit TOM20 homolog is a protein that in humans is encoded by the TOMM20 gene. TOM20 is one of the receptor systems of the TOM complex in the outer mitochondrial membrane (OMM).

Mitochondrial import receptor subunit TOM22 homolog is a protein that in humans is encoded by the TOMM22 gene.

Thrombospondin-3 (TSP3) is a protein that in humans is encoded by the THBS3 gene.

55 kDa erythrocyte membrane protein is a protein that in humans is encoded by the MPP1 gene.

Mitochondrial import inner membrane translocase subunit Tim10 is an enzyme that in humans is encoded by the TIMM10 gene.

Mitochondrial dynamic protein MID51 (MID51) also known as mitochondrial elongation factor 1 (MIEF1) or Smith-Magenis syndrome chromosome region candidate gene 7 protein-like (SMCR7L) is a protein that in humans is encoded by the SMCR7L gene.

Mitochondrial import receptor subunit TOM40B is a protein that in humans is encoded by the TOMM40L gene.

Mitochondrial import inner membrane translocase subunit TIM44 is an enzyme that in humans is encoded by the TIMM44 gene.

Mitochondrial import inner membrane translocase subunit Tim9 B is an enzyme that in humans is encoded by the FXC1 gene.

Mitochondrial import inner membrane translocase subunit Tim23 is an enzyme that in humans is encoded by the TIMM23 gene.

Mitochondrial import inner membrane translocase subunit Tim17-A is an enzyme that in humans is encoded by the TIMM17A gene.

Mitochondrial import inner membrane translocase subunit TIM14 is an enzyme that in humans is encoded by the DNAJC19 gene on chromosome 3. TIM14 belongs to the DnaJ family, which has been involved in Hsp40/Hsp70 chaperone systems. As a mitochondrial chaperone, TIM14 functions as part of the TIM23 complex import motor to facilitate the import of nuclear-encoded proteins into the mitochondria. TIM14 also complexes with prohibitin complexes to regulate mitochondrial morphogenesis, and has been implicated in dilated cardiomyopathy with ataxia.

Mitochondrial import inner membrane translocase subunit Tim9 is an enzyme that in humans is encoded by the TIMM9 gene.

Cytohesin-4 is a protein that in humans is encoded by the CYTH4 gene.

Mitochondrial import inner membrane translocase subunit Tim22 is an enzyme that in humans is encoded by the TIMM22 gene.

Solute carrier family 25 member 39 is a protein that in humans is encoded by the SLC25A39 gene. The protein has been shown to be necessary for the import of the major antioxidant glutathione into the mitochondria.

DnaJ homolog subfamily C member 11 is a protein that in humans is encoded by the DNAJC11 gene.

Coiled-coil domain-containing protein 70 is a protein that in humans is encoded by the CCDC70 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000173171 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000064068 - 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.
↑ "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. Bibcode:1995PNAS...92.4547B. 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.

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000173171 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] "Entrez Gene: MTX1 metaxin 1".

[pmid7753840-6] 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.

[pmid9045676-7] 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.

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MTX1

Contents

Function

Related Research Articles

References

Further reading