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{{Infobox_gene}} | {{Infobox_gene}} | ||
'''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.<ref name="pmid12377771">{{cite journal |vauthors=Xu X, Shi YC, Gao W, Mao G, Zhao G, Agrawal S, Chisolm GM, Sui D, Cui MZ | title = The novel presenilin-1-associated protein is a proapoptotic mitochondrial protein | journal = J Biol Chem | volume = 277 | issue = 50 | pages = 48913–48922 |date=Dec 2002 | pmid = 12377771 | pmc = | doi = 10.1074/jbc.M209613200 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MTCH1 mitochondrial carrier homolog 1 (C. elegans)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23787| accessdate = }}</ref><ref name="pmid18375015"/> MTCH1 is a [[proapoptotic]] [[mitochondria]]l protein potentially involved in [[Alzheimer’s disease]] (AD).<ref name="entrez"/><ref name="pmid18375015">{{cite journal|last1=Lamarca|first1=V|last2=Marzo|first2=I|last3=Sanz-Clemente|first3=A|last4=Carrodeguas|first4=JA|title=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.|journal=European | '''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.<ref name="pmid12377771">{{cite journal |vauthors=Xu X, Shi YC, Gao W, Mao G, Zhao G, Agrawal S, Chisolm GM, Sui D, Cui MZ | title = The novel presenilin-1-associated protein is a proapoptotic mitochondrial protein | journal = J Biol Chem | volume = 277 | issue = 50 | pages = 48913–48922 |date=Dec 2002 | pmid = 12377771 | pmc = | doi = 10.1074/jbc.M209613200 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MTCH1 mitochondrial carrier homolog 1 (C. elegans)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23787| accessdate = }}</ref><ref name="pmid18375015"/> MTCH1 is a [[proapoptotic]] [[mitochondria]]l protein potentially involved in [[Alzheimer’s disease]] (AD).<ref name="entrez"/><ref name="pmid18375015">{{cite journal|last1=Lamarca|first1=V|last2=Marzo|first2=I|last3=Sanz-Clemente|first3=A|last4=Carrodeguas|first4=JA|title=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.|journal=European Journal of Cell Biology|date=May 2008|volume=87|issue=5|pages=325–34|pmid=18375015|doi=10.1016/j.ejcb.2008.02.004}}</ref><ref name="pmid24035008">{{cite journal|last1=Vural|first1=B|last2=Sehitoğlu|first2=E|last3=Cavuş|first3=F|last4=Yalçınkaya|first4=N|last5=Haytural|first5=H|last6=Küçükerden|first6=M|last7=Ulusoy|first7=C|last8=Uğurel|first8=E|last9=Turan|first9=S|last10=Bulut|first10=L|last11=Türkoğlu|first11=R|last12=Shugaiv|first12=E|last13=Kürtüncü|first13=M|last14=Atakan|first14=S|last15=Güre|first15=AO|last16=Gül|first16=A|last17=Eraksoy|first17=M|last18=Akman-Demir|first18=G|last19=Tüzün|first19=E|title=Mitochondrial carrier homolog 1 (Mtch1) antibodies in neuro-Behçet's disease.|journal=Journal of Neuroimmunology|date=15 October 2013|volume=263|issue=1–2|pages=139–44|pmid=24035008|doi=10.1016/j.jneuroim.2013.08.007|hdl=11693/12552}}</ref> | ||
==Structure== | ==Structure== | ||
The protein encoded by this gene is named for its structural resemblance to the members of the [[mitochondrial carrier]] protein family.<ref name="pmid12377771"/><ref name="pmid18375015"/> The ''MTCH1'' gene contains 12 [[exon]]s and produces four [[isoform]]s. These isoforms arise from [[alternative splicing]] of exon 8 and two potential [[start codon]]s, which results in the deletion of 17 [[amino acid]] residues in the hydrophilic loop between two [[transmembrane domain]]s of some isoforms.<ref name="pmid18291114">{{cite journal|last1=Mao|first1=G|last2=Tan|first2=J|last3=Gao|first3=W|last4=Shi|first4=Y|last5=Cui|first5=MZ|last6=Xu|first6=X|title=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.|journal=Biochimica et Biophysica Acta|date=April 2008|volume=1780|issue=4|pages=696–708|pmid=18291114|doi=10.1016/j.bbagen.2008.01.013|pmc=3509497}}</ref><ref name="pmid17670888">{{cite journal|last1=Lamarca|first1=V|last2=Sanz-Clemente|first2=A|last3=Pérez-Pé|first3=R|last4=Martínez-Lorenzo|first4=MJ|last5=Halaihel|first5=N|last6=Muniesa|first6=P|last7=Carrodeguas|first7=JA|title=Two isoforms of PSAP/MTCH1 share two proapoptotic domains and multiple internal signals for import into the mitochondrial outer membrane.|journal=American Journal of Physiology. Cell Physiology|date=October 2007|volume=293|issue=4|pages= | The protein encoded by this gene is named for its structural resemblance to the members of the [[mitochondrial carrier]] protein family.<ref name="pmid12377771"/><ref name="pmid18375015"/> The ''MTCH1'' gene contains 12 [[exon]]s and produces four [[isoform]]s. These isoforms arise from [[alternative splicing]] of exon 8 and two potential [[start codon]]s, which results in the deletion of 17 [[amino acid]] residues in the hydrophilic loop between two [[transmembrane domain]]s of some isoforms.<ref name="pmid18291114">{{cite journal|last1=Mao|first1=G|last2=Tan|first2=J|last3=Gao|first3=W|last4=Shi|first4=Y|last5=Cui|first5=MZ|last6=Xu|first6=X|title=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.|journal=Biochimica et Biophysica Acta|date=April 2008|volume=1780|issue=4|pages=696–708|pmid=18291114|doi=10.1016/j.bbagen.2008.01.013|pmc=3509497}}</ref><ref name="pmid17670888">{{cite journal|last1=Lamarca|first1=V|last2=Sanz-Clemente|first2=A|last3=Pérez-Pé|first3=R|last4=Martínez-Lorenzo|first4=MJ|last5=Halaihel|first5=N|last6=Muniesa|first6=P|last7=Carrodeguas|first7=JA|title=Two isoforms of PSAP/MTCH1 share two proapoptotic domains and multiple internal signals for import into the mitochondrial outer membrane.|journal=American Journal of Physiology. Cell Physiology|date=October 2007|volume=293|issue=4|pages=C1347–61|pmid=17670888|doi=10.1152/ajpcell.00431.2006}}</ref> 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 [[subcellular localization|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.<ref name="pmid18375015"/><ref name="pmid18291114"/><ref name="pmid17670888"/> | ||
==Function== | ==Function== | ||
Latest revision as of 03:04, 16 November 2018
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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.[1][2][3] MTCH1 is a proapoptotic mitochondrial protein potentially involved in Alzheimer’s disease (AD).[2][3][4]
Structure
The protein encoded by this gene is named for its structural resemblance to the members of the mitochondrial carrier protein family.[1][3] 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.[5][6] 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.[3][5][6]
Function
MTCH1 is a proapoptotic protein that localizes to the OMM and induces apoptosis independently of BAX and BAK.[2][3] 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.[1][3] Expression of this protein is observed in 16 different tissue types, indicating that the protein may serve a housekeeping function.[6]
Clinical Significance
MTCH1 may be associated with AD and other neurodegenerative and neuroinflammatory diseases through its close interaction with presenilin.[1][4] However, more research is required to confirm its clinical involvement.[4]
Interactions
MTCH1 has been shown to interact with PS1.[1]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 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.
- ↑ 2.0 2.1 2.2 "Entrez Gene: MTCH1 mitochondrial carrier homolog 1 (C. elegans)".
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 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.
- ↑ 4.0 4.1 4.2 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.
- ↑ 5.0 5.1 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. 1780 (4): 696–708. doi:10.1016/j.bbagen.2008.01.013. PMC 3509497. PMID 18291114.
- ↑ 6.0 6.1 6.2 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.
Further reading
- 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. 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. 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.