MTCH1

MTCH1
Identifiers
Aliases	MTCH1, CGI-64, PIG60, PSAP, SLC25A49, mitochondrial carrier 1
External IDs	OMIM: 610449; MGI: 1929261; GeneCards: MTCH1
Gene location (Human)
Chr.	Chromosome 6 (human)
End	36,986,298 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	29,566,908 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; Brodmann area 23; ; middle temporal gyrus; ; inferior olivary nucleus; ; pancreatic ductal cell; ; dorsal motor nucleus of vagus nerve; ; entorhinal cortex; ; corpus epididymis; ; Epithelium of choroid plexus; ; superior frontal gyrus;
	Top expressed in
	saccule; ; dentate gyrus of hippocampal formation granule cell; ; vestibular membrane of cochlear duct; ; otic placode; ; otic vesicle; ; superior frontal gyrus; ; dorsomedial hypothalamic nucleus; ; lateral septal nucleus; ; molar; ; ventricular zone;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	integral component of membrane; intracellular anatomical structure; mitochondrial inner membrane; mitochondrion; membrane;
Biological process	regulation of signal transduction; apoptotic process; positive regulation of apoptotic process; neuronal ion channel clustering; activation of cysteine-type endopeptidase activity involved in apoptotic process;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	23787
	56462
	ENSG00000137409
	ENSMUSG00000024012
	Q9NZJ7
	Q791T5
	NM_001271641; NM_014341
	NM_019880; NM_001347335; NM_001357762; NM_001357763
	NP_001258570; NP_055156
	NP_001334264; NP_063933; NP_001344691; NP_001344692
	Wikidata
View/Edit Human	View/Edit Mouse

Mitochondrial carrier homolog 1 (MTCH1), also referred to as presenilin 1-associated protein (PSAP), is a protein that in humans is encoded by the MTCH1 gene on chromosome 6.^[5]^[6]^[7] MTCH1 is a proapoptotic mitochondrial protein potentially involved in Alzheimer's disease (AD).^[6]^[7]^[8]

Structure

The protein encoded by this gene is named for its structural resemblance to the members of the mitochondrial carrier protein family.^[5]^[7] The MTCH1 gene contains 12 exons and produces four isoforms. These isoforms arise from alternative splicing of exon 8 and two potential start codons, which results in the deletion of 17 amino acid residues in the hydrophilic loop between two transmembrane domains of some isoforms.^[9]^[10] Though they differ in sequence and length, the four isoforms still share a similar topological structure, including six transmembrane domains, one of which is responsible for localization to the outer mitochondrial membrane (OMM), and two N-terminal apoptotic domains. As a result, all four isoforms retain these apoptotic domains and mitochondrial localization, both of which are required for the protein's proapoptotic function.^[7]^[9]^[10]

Function

MTCH1 is a proapoptotic protein that localizes to the OMM and induces apoptosis independently of BAX and BAK.^[6]^[7] One possible mechanism proposes that its interactions with the mitochondrial permeability transition pore (MPTP) complex leads to depolarization of the mitochondrial membrane, release of cytochrome C, and activation of caspase-3.^[5]^[7] Expression of this protein is observed in 16 different tissue types, indicating that the protein may serve a housekeeping function.^[10]

Clinical Significance

MTCH1 may be associated with AD and other neurodegenerative and neuroinflammatory diseases through its close interaction with presenilin.^[5]^[8] However, more research is required to confirm its clinical involvement.^[8]

Interactions

MTCH1 has been shown to interact with PS1.^[5]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000137409 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024012 – 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.
^ ^a ^b ^c ^d ^e Xu X, Shi YC, Gao W, Mao G, Zhao G, Agrawal S, Chisolm GM, Sui D, Cui MZ (Dec 2002). "The novel presenilin-1-associated protein is a proapoptotic mitochondrial protein". J Biol Chem. 277 (50): 48913–48922. doi:10.1074/jbc.M209613200. PMID 12377771.
^ ^a ^b ^c "Entrez Gene: MTCH1 mitochondrial carrier homolog 1 (C. elegans)".
^ ^a ^b ^c ^d ^e ^f Lamarca, V; Marzo, I; Sanz-Clemente, A; Carrodeguas, JA (May 2008). "Exposure of any of two proapoptotic domains of presenilin 1-associated protein/mitochondrial carrier homolog 1 on the surface of mitochondria is sufficient for induction of apoptosis in a Bax/Bak-independent manner". European Journal of Cell Biology. 87 (5): 325–34. doi:10.1016/j.ejcb.2008.02.004. PMID 18375015.
^ ^a ^b ^c Vural, B; Sehitoğlu, E; Cavuş, F; Yalçınkaya, N; Haytural, H; Küçükerden, M; Ulusoy, C; Uğurel, E; Turan, S; Bulut, L; Türkoğlu, R; Shugaiv, E; Kürtüncü, M; Atakan, S; Güre, AO; Gül, A; Eraksoy, M; Akman-Demir, G; Tüzün, E (15 October 2013). "Mitochondrial carrier homolog 1 (Mtch1) antibodies in neuro-Behçet's disease". Journal of Neuroimmunology. 263 (1–2): 139–44. doi:10.1016/j.jneuroim.2013.08.007. hdl:11693/12552. PMID 24035008. S2CID 13300599.
^ ^a ^b Mao, G; Tan, J; Gao, W; Shi, Y; Cui, MZ; Xu, X (April 2008). "Both the N-terminal fragment and the protein-protein interaction domain (PDZ domain) are required for the pro-apoptotic activity of presenilin-associated protein PSAP". Biochimica et Biophysica Acta (BBA) - General Subjects. 1780 (4): 696–708. doi:10.1016/j.bbagen.2008.01.013. PMC 3509497. PMID 18291114.
^ ^a ^b ^c Lamarca, V; Sanz-Clemente, A; Pérez-Pé, R; Martínez-Lorenzo, MJ; Halaihel, N; Muniesa, P; Carrodeguas, JA (October 2007). "Two isoforms of PSAP/MTCH1 share two proapoptotic domains and multiple internal signals for import into the mitochondrial outer membrane". American Journal of Physiology. Cell Physiology. 293 (4): C1347–61. doi:10.1152/ajpcell.00431.2006. PMID 17670888. S2CID 43241603.

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Xu X, Shi Y, Wu X, et al. (2000). "Identification of a novel PSD-95/Dlg/ZO-1 (PDZ)-like protein interacting with the C terminus of presenilin-1". J. Biol. Chem. 274 (46): 32543–32546. doi:10.1074/jbc.274.46.32543. PMID 10551805.
Lai CH, Chou CY, Ch'ang LY, et al. (2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Res. 10 (5): 703–713. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
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): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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): 2265–2270. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–811. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
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): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Lamarca V, Sanz-Clemente A, Pérez-Pé R, et al. (2007). "Two isoforms of PSAP/MTCH1 share two proapoptotic domains and multiple internal signals for import into the mitochondrial outer membrane". Am. J. Physiol., Cell Physiol. 293 (4): C1347–C1361. doi:10.1152/ajpcell.00431.2006. PMID 17670888. S2CID 43241603.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000137409 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024012 – 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.

[pmid12377771-5] Xu X, Shi YC, Gao W, Mao G, Zhao G, Agrawal S, Chisolm GM, Sui D, Cui MZ (Dec 2002). "The novel presenilin-1-associated protein is a proapoptotic mitochondrial protein". J Biol Chem. 277 (50): 48913–48922. doi:10.1074/jbc.M209613200. PMID 12377771.

[entrez-6] "Entrez Gene: MTCH1 mitochondrial carrier homolog 1 (C. elegans)".

[pmid18375015-7] ^ ^a ^b ^c ^d ^e ^f Lamarca, V; Marzo, I; Sanz-Clemente, A; Carrodeguas, JA (May 2008). "Exposure of any of two proapoptotic domains of presenilin 1-associated protein/mitochondrial carrier homolog 1 on the surface of mitochondria is sufficient for induction of apoptosis in a Bax/Bak-independent manner". European Journal of Cell Biology. 87 (5): 325–34. doi:10.1016/j.ejcb.2008.02.004. PMID 18375015.

[pmid24035008-8] Vural, B; Sehitoğlu, E; Cavuş, F; Yalçınkaya, N; Haytural, H; Küçükerden, M; Ulusoy, C; Uğurel, E; Turan, S; Bulut, L; Türkoğlu, R; Shugaiv, E; Kürtüncü, M; Atakan, S; Güre, AO; Gül, A; Eraksoy, M; Akman-Demir, G; Tüzün, E (15 October 2013). "Mitochondrial carrier homolog 1 (Mtch1) antibodies in neuro-Behçet's disease". Journal of Neuroimmunology. 263 (1–2): 139–44. doi:10.1016/j.jneuroim.2013.08.007. hdl:11693/12552. PMID 24035008. S2CID 13300599.

[pmid18291114-9] Mao, G; Tan, J; Gao, W; Shi, Y; Cui, MZ; Xu, X (April 2008). "Both the N-terminal fragment and the protein-protein interaction domain (PDZ domain) are required for the pro-apoptotic activity of presenilin-associated protein PSAP". Biochimica et Biophysica Acta (BBA) - General Subjects. 1780 (4): 696–708. doi:10.1016/j.bbagen.2008.01.013. PMC 3509497. PMID 18291114.

[pmid17670888-10] Lamarca, V; Sanz-Clemente, A; Pérez-Pé, R; Martínez-Lorenzo, MJ; Halaihel, N; Muniesa, P; Carrodeguas, JA (October 2007). "Two isoforms of PSAP/MTCH1 share two proapoptotic domains and multiple internal signals for import into the mitochondrial outer membrane". American Journal of Physiology. Cell Physiology. 293 (4): C1347–61. doi:10.1152/ajpcell.00431.2006. PMID 17670888. S2CID 43241603.

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