LOCUS       NM_001271641            1955 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial carrier 1 (MTCH1), transcript variant 2,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001271641
VERSION     NM_001271641.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1955)
  AUTHORS   Xie,L., Shu,Y., Ye,M. and Li,Y.
  TITLE     Identification of MTCH1 as a novel prognostic indicator and
            therapeutic target in hepatocellular carcinoma
  JOURNAL   Pathol Res Pract 259, 155358 (2024)
   PUBMED   38820930
  REMARK    GeneRIF: Identification of MTCH1 as a novel prognostic indicator
            and therapeutic target in hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 1955)
  AUTHORS   Wang,X., Ji,Y., Qi,J., Zhou,S., Wan,S., Fan,C., Gu,Z., An,P.,
            Luo,Y. and Luo,J.
  TITLE     Mitochondrial carrier 1 (MTCH1) governs ferroptosis by triggering
            the FoxO1-GPX4 axis-mediated retrograde signaling in cervical
            cancer cells
  JOURNAL   Cell Death Dis 14 (8), 508 (2023)
   PUBMED   37550282
  REMARK    GeneRIF: Mitochondrial carrier 1 (MTCH1) governs ferroptosis by
            triggering the FoxO1-GPX4 axis-mediated retrograde signaling in
            cervical cancer cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1955)
  AUTHORS   Guna,A., Stevens,T.A., Inglis,A.J., Replogle,J.M., Esantsi,T.K.,
            Muthukumar,G., Shaffer,K.C.L., Wang,M.L., Pogson,A.N., Jones,J.J.,
            Lomenick,B., Chou,T.F., Weissman,J.S. and Voorhees,R.M.
  TITLE     MTCH2 is a mitochondrial outer membrane protein insertase
  JOURNAL   Science 378 (6617), 317-322 (2022)
   PUBMED   36264797
REFERENCE   4  (bases 1 to 1955)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   5  (bases 1 to 1955)
  AUTHORS   Chen,G., Mo,S. and Yuan,D.
  TITLE     Upregulation Mitochondrial Carrier 1 (MTCH1) Is Associated with
            Cell Proliferation, Invasion, and Migration of Liver Hepatocellular
            Carcinoma
  JOURNAL   Biomed Res Int 2021, 9911784 (2021)
   PUBMED   34195286
  REMARK    GeneRIF: Upregulation Mitochondrial Carrier 1 (MTCH1) Is Associated
            with Cell Proliferation, Invasion, and Migration of Liver
            Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1955)
  AUTHORS   Lamarca,V., Marzo,I., Sanz-Clemente,A. and Carrodeguas,J.A.
  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   Eur J Cell Biol 87 (5), 325-334 (2008)
   PUBMED   18375015
REFERENCE   7  (bases 1 to 1955)
  AUTHORS   Mao,G., Tan,J., Gao,W., Shi,Y., Cui,M.Z. and Xu,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   Biochim Biophys Acta 1780 (4), 696-708 (2008)
   PUBMED   18291114
  REMARK    GeneRIF: Data show that all PSAP splicing isoforms are localized in
            the mitochondria and are pro-apoptotic.
REFERENCE   8  (bases 1 to 1955)
  AUTHORS   Lamarca,V., Sanz-Clemente,A., Perez-Pe,R., Martinez-Lorenzo,M.J.,
            Halaihel,N., Muniesa,P. and Carrodeguas,J.A.
  TITLE     Two isoforms of PSAP/MTCH1 share two proapoptotic domains and
            multiple internal signals for import into the mitochondrial outer
            membrane
  JOURNAL   Am J Physiol Cell Physiol 293 (4), C1347-C1361 (2007)
   PUBMED   17670888
  REMARK    GeneRIF: PSAP has two proapoptotic isoforms generated by
            alternative splicing, and both proteins are imported into the
            mitochondrial outer membrane using multiple internal targeting
            signals, and both contain two proapoptotic domains.
REFERENCE   9  (bases 1 to 1955)
  AUTHORS   Xu,X., Shi,Y.C., Gao,W., Mao,G., Zhao,G., Agrawal,S., Chisolm,G.M.,
            Sui,D. and Cui,M.Z.
  TITLE     The novel presenilin-1-associated protein is a proapoptotic
            mitochondrial protein
  JOURNAL   J Biol Chem 277 (50), 48913-48922 (2002)
   PUBMED   12377771
  REMARK    GeneRIF: mitochondrial localization and proapoptotic activity of
            PSAP suggest that it is an important regulator of apoptosis
REFERENCE   10 (bases 1 to 1955)
  AUTHORS   Xu,X., Shi,Yc., Wu,X., Gambetti,P., Sui,D. and Cui,M.Z.
  TITLE     Identification of a novel PSD-95/Dlg/ZO-1 (PDZ)-like protein
            interacting with the C terminus of presenilin-1
  JOURNAL   J Biol Chem 274 (46), 32543-32546 (1999)
   PUBMED   10551805
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL122034.29.
            
            On Jul 22, 2020 this sequence version replaced NM_001271641.1.
            
            Summary: This gene encodes a member of the mitochondrial carrier
            family. The encoded protein is localized to the mitochondrion inner
            membrane and induces apoptosis independent of the proapoptotic
            proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been
            identified for this gene. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed. [provided by RefSeq,
            Oct 2012].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the coding region, compared to variant 1. The encoded isoform
            (PSAP-LL, PMID:18291114) is longer compared to isoform PSAP-LS.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF192559.3, AF189289.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000373627.10/
                                                  ENSP00000362730.5
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-344               AL122034.29        116988-117331       c
            345-429             AL122034.29        112723-112807       c
            430-536             AL122034.29        109640-109746       c
            537-614             AL122034.29        109213-109290       c
            615-672             AL122034.29        108769-108826       c
            673-724             AL122034.29        108334-108385       c
            725-784             AL122034.29        106793-106852       c
            785-929             AL122034.29        103787-103931       c
            930-977             AL122034.29        101782-101829       c
            978-1045            AL122034.29        101541-101608       c
            1046-1121           AL122034.29        101174-101249       c
            1122-1955           AL122034.29        99276-100109        c
FEATURES             Location/Qualifiers
     source          1..1955
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.2"
     gene            1..1955
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /note="mitochondrial carrier 1"
                     /db_xref="GeneID:23787"
                     /db_xref="HGNC:HGNC:17586"
                     /db_xref="MIM:610449"
     exon            1..344
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1193
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /note="isoform PSAP-LL is encoded by transcript variant 2;
                     presenilin-associated protein; cell proliferation-inducing
                     protein 60; mitochondrial carrier homolog 1; solute
                     carrier family 25, member 49"
                     /codon_start=1
                     /product="mitochondrial carrier homolog 1 isoform PSAP-LL"
                     /protein_id="NP_001258570.1"
                     /db_xref="CCDS:CCDS64411.1"
                     /db_xref="GeneID:23787"
                     /db_xref="HGNC:HGNC:17586"
                     /db_xref="MIM:610449"
                     /translation="MGASDPEVAPWARGGAAGMAGAGAGAGARGGAAAGVEARARDPP
                     PAHRAHPRHPRPAAQPSARRMDGGSGGLGSGDNAPTTEALFVALGAGVTALSHPLLYV
                     KLLIQVGHEPMPPTLGTNVLGRKVLYLPSFFTYAKYIVQVDGKIGLFRGLSPRLMSNA
                     LSTVTRGSMKKVFPPDEIEQVSNKDDMKTSLKKVVKETSYEMMMQCVSRMLAHPLHVI
                     SMRCMVQFVGREAKYSGVLSSIGKIFKEEGLLGFFVGLIPHLLGDVVFLWGCNLLAHF
                     INAYLVDDSVSDTPGGLGNDQNPGSQFSQALAIRSYTKFVMGIAVSMLTYPFLLVGDL
                     MAVNNCGLQAGLPPYSPVFKSWIHCWKYLSVQGQLFRGSSLLFRRVSSGSCFALE"
     exon            345..429
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     exon            430..536
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     exon            537..614
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     exon            615..672
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     exon            673..724
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     exon            725..784
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     exon            785..929
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     exon            930..977
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     exon            978..1045
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1121
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1955
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1933..1938
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /note="hexamer: AATAAA"
     polyA_site      1955
                     /gene="MTCH1"
                     /gene_synonym="CGI-64; PIG60; PSAP; SLC25A49"
                     /note="major polyA site"
ORIGIN      
        1 gagtgacctc gccgccgggc gccatgggag cttcggaccc ggaagtggcg ccctgggctc
       61 gcggcggtgc cgcggggatg gcgggagccg gagctggagc cggagctcgc ggcggagcgg
      121 cggcgggggt cgaggctcga gctcgcgatc caccgcccgc gcaccgcgca catcctcgcc
      181 accctcggcc tgcggctcag ccctcggccc gcaggatgga tggcgggtca gggggcctgg
      241 ggtctgggga caacgccccg accactgagg ctcttttcgt ggcactgggc gcgggcgtga
      301 cggcgctcag ccatcccctg ctctacgtga agctgctcat ccaggtgggt catgagccga
      361 tgccccccac ccttgggacc aatgtgctgg ggaggaaggt cctctatctg ccgagcttct
      421 tcacctacgc caagtacatc gtgcaagtgg atggtaagat agggctgttc cgaggcctga
      481 gtccccggct gatgtccaac gccctctcta ctgtgactcg gggtagcatg aagaaggttt
      541 tccctccaga tgagattgag caggtttcca acaaggatga tatgaagact tccctgaaga
      601 aagttgtgaa ggagacctcc tacgagatga tgatgcagtg tgtgtcccgc atgttggccc
      661 accccctgca tgtcatctca atgcgctgca tggtccagtt tgtgggacgg gaggccaagt
      721 acagtggtgt gctgagctcc attgggaaga ttttcaaaga ggaagggctg ctgggattct
      781 tcgttggatt aatccctcac ctcctgggcg atgtggtttt cttgtggggc tgtaacctgc
      841 tggcccactt catcaatgcc tacctggtgg atgacagcgt gagtgacacc ccaggggggc
      901 tgggaaacga ccagaatcca ggttcccagt tcagccaggc cctggccatc cggagctata
      961 ccaagttcgt gatggggatt gcagtgagca tgctgaccta ccccttcctg ctagttggcg
     1021 acctcatggc tgtgaacaac tgcgggctgc aagctgggct ccccccttac tccccagtgt
     1081 tcaaatcctg gattcactgc tggaagtacc tgagtgtgca gggccagctc ttccgaggct
     1141 ccagcctgct tttccgccgg gtgtcatcag gatcatgctt tgccctggag taacctgaat
     1201 catctaaaaa acacggtctc aacctggcca ccgtgggtga ggcctgacca ccttgggaca
     1261 cctgcaagac gactccaacc caacaacaac cagatgtgct ccagcccagc cgggcttcag
     1321 ttccatattt gccatgtgtc tgtccagatg tggggttgag cgggggtggg gctgcaccca
     1381 gtggattggg tcacccggca gacctaggga aggtgaggcg aggtggggag ttggcagaat
     1441 ccccatacct cgcagatttg ctgagtctgt cttgtgcaga gggccagaga atggcttatg
     1501 ggggcccagg ttggatgggg aaaggctaat ggggtcagac cccaccccgt ctacccctcc
     1561 agtcagccca gcgcccatcc tgcagctcag ctgggagcat cattctcctg ctttgtacat
     1621 agggtgtggt cccctggcac gtggccacca tcatgtctag gcctatgcta ggaggcaaat
     1681 ggccaggctc tgcctgtgtt tttctcaaca ctacttttct gatatgaggg cagcacctgc
     1741 ctctgaatgg gaaatcatgc aactactcag aatgtgtcct cctcatctaa tgctcatctg
     1801 tttaatggtg atgcctcgcg tacaggatct ggttacctgt gcagttgtga atacccagag
     1861 gttgggcaga tcagtgtctc tagtcctacc cagttttaaa gttcatggta agatttgacc
     1921 tcatctcccg caaataaatg tattggtgat ttgga
//
