CMC4_HUMAN
ID CMC4_HUMAN Reviewed; 68 AA.
AC P56277; Q5HYP9;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 15-JUL-1998, sequence version 1.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=Cx9C motif-containing protein 4;
DE AltName: Full=Mature T-cell proliferation 1 neighbor protein;
DE AltName: Full=Mature T-cell proliferation-1 type A;
DE Short=MTCP-1 type A;
DE AltName: Full=Protein p8 MTCP-1;
DE Short=p8MTCP1;
GN Name=CMC4; Synonyms=C6.1B, MTCP1, MTCP1NB;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1), AND
RP OVEREXPRESSION IN T-CELL.
RC TISSUE=T-cell;
RX PubMed=8361760;
RA Stern M.-H., Soulier J., Rosenzwajg M., Nakahara K., Canki-Klain N.,
RA Aurias A., Sigaux F., Kirsch I.R.;
RT "MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T
RT cell receptor alpha/delta locus in mature T cell proliferations.";
RL Oncogene 8:2475-2483(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=7784073;
RA Madani A., Soulier J., Schmid M., Plichtova R., Lerme F., Gateau-Roesch O.,
RA Garnier J.-P., Pla M., Sigaux F., Stern M.-H.;
RT "The 8 kD product of the putative oncogene MTCP-1 is a mitochondrial
RT protein.";
RL Oncogene 10:2259-2262(1995).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [8]
RP STRUCTURE BY NMR, AND DISULFIDE BONDS.
RX PubMed=9405159; DOI=10.1006/jmbi.1997.1438;
RA Barthe P., Yang Y.-S., Chiche L., Hoh F., Strub M.-P., Guignard L.,
RA Soulier J., Stern M.-H., van Tilbeurgh H., Lhoste J.-M., Roumestand C.;
RT "Solution structure of human p8MTCP1, a cysteine-rich protein encoded by
RT the MTCP1 oncogene, reveals a new alpha-helical assembly motif.";
RL J. Mol. Biol. 274:801-815(1997).
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:7784073}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=Short, Type A, p8 MTCP1;
CC IsoId=P56277-1; Sequence=Displayed;
CC Name=2; Synonyms=Long, Type B1, p13 MTCP1;
CC IsoId=P56278-1; Sequence=External;
CC -!- TISSUE SPECIFICITY: Expressed in many tissues with a relatively high
CC level in skeletal muscle.
CC -!- DOMAIN: The twin Cx9C motifs are involved in the recognition by the
CC mitochondrial disulfide relay system. {ECO:0000250}.
CC -!- DISEASE: Note=Overexpressed in T-cell leukemia bearing a t(X;14)
CC translocation. {ECO:0000269|PubMed:8361760}.
CC -!- MISCELLANEOUS: [Isoform 1]: Shares a non-coding 5' exon with isoform 2
CC which is spliced to a different set of 3' exons encoding an unrelated
CC protein.
CC -!- SIMILARITY: Belongs to the CMC4 family. {ECO:0000305}.
CC -!- CAUTION: MTCP1 and MTCP1NB are transcribed from the same promoter and
CC could be considered the same gene. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/MTCP1ID89.html";
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DR EMBL; Z24459; CAA80829.1; -; Genomic_DNA.
DR EMBL; BT006749; AAP35395.1; -; mRNA.
DR EMBL; BX470111; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471172; EAW72639.1; -; Genomic_DNA.
DR EMBL; BC002600; AAH02600.1; -; mRNA.
DR CCDS; CCDS14764.1; -. [P56277-1]
DR PIR; S70751; S70751.
DR RefSeq; NP_001018024.1; NM_001018024.2. [P56277-1]
DR PDB; 1EI0; NMR; -; A=5-42.
DR PDB; 1HP8; NMR; -; A=1-68.
DR PDB; 2HP8; NMR; -; A=1-68.
DR PDBsum; 1EI0; -.
DR PDBsum; 1HP8; -.
DR PDBsum; 2HP8; -.
DR AlphaFoldDB; P56277; -.
DR SMR; P56277; -.
DR BioGRID; 938528; 5.
DR IntAct; P56277; 5.
DR STRING; 9606.ENSP00000358496; -.
DR iPTMnet; P56277; -.
DR PhosphoSitePlus; P56277; -.
DR BioMuta; CMC4; -.
DR DMDM; 3024174; -.
DR EPD; P56277; -.
DR jPOST; P56277; -.
DR MassIVE; P56277; -.
DR PaxDb; P56277; -.
DR PeptideAtlas; P56277; -.
DR PRIDE; P56277; -.
DR ProteomicsDB; 56908; -. [P56277-1]
DR Antibodypedia; 45442; 73 antibodies from 17 providers.
DR DNASU; 100272147; -.
DR Ensembl; ENST00000369479.1; ENSP00000358491.1; ENSG00000182712.16. [P56277-1]
DR Ensembl; ENST00000369484.8; ENSP00000358496.3; ENSG00000182712.16. [P56277-1]
DR GeneID; 100272147; -.
DR KEGG; hsa:100272147; -.
DR MANE-Select; ENST00000369484.8; ENSP00000358496.3; NM_001018024.3; NP_001018024.1.
DR UCSC; uc004fmy.4; human. [P56277-1]
DR CTD; 100272147; -.
DR DisGeNET; 100272147; -.
DR GeneCards; CMC4; -.
DR HGNC; HGNC:35428; CMC4.
DR HPA; ENSG00000182712; Low tissue specificity.
DR neXtProt; NX_P56277; -.
DR OpenTargets; ENSG00000182712; -.
DR PharmGKB; PA164723191; -.
DR VEuPathDB; HostDB:ENSG00000182712; -.
DR eggNOG; ENOG502SC73; Eukaryota.
DR GeneTree; ENSGT00390000012647; -.
DR HOGENOM; CLU_177210_1_1_1; -.
DR InParanoid; P56277; -.
DR OMA; ICCSGFE; -.
DR OrthoDB; 1633942at2759; -.
DR PhylomeDB; P56277; -.
DR TreeFam; TF353119; -.
DR PathwayCommons; P56277; -.
DR Reactome; R-HSA-1268020; Mitochondrial protein import.
DR SignaLink; P56277; -.
DR BioGRID-ORCS; 100272147; 9 hits in 669 CRISPR screens.
DR ChiTaRS; CMC4; human.
DR EvolutionaryTrace; P56277; -.
DR GenomeRNAi; 100272147; -.
DR Pharos; P56277; Tbio.
DR PRO; PR:P56277; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P56277; protein.
DR Bgee; ENSG00000182712; Expressed in right atrium auricular region and 96 other tissues.
DR Genevisible; P56277; HS.
DR GO; GO:0005758; C:mitochondrial intermembrane space; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR InterPro; IPR009069; Cys_alpha_HP_mot_SF.
DR InterPro; IPR027179; MTCP1.
DR PANTHER; PTHR15590; PTHR15590; 1.
DR Pfam; PF08991; MTCP1; 1.
DR SUPFAM; SSF47072; SSF47072; 1.
DR PROSITE; PS51808; CHCH; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Chromosomal rearrangement;
KW Disulfide bond; Mitochondrion; Proto-oncogene; Reference proteome.
FT CHAIN 1..68
FT /note="Cx9C motif-containing protein 4"
FT /id="PRO_0000096614"
FT DOMAIN 4..46
FT /note="CHCH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 7..17
FT /note="Cx9C motif 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 28..38
FT /note="Cx9C motif 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT DISULFID 7..38
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150,
FT ECO:0000269|PubMed:9405159"
FT DISULFID 17..28
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150,
FT ECO:0000269|PubMed:9405159"
FT DISULFID 39..50
FT /evidence="ECO:0000269|PubMed:9405159"
FT HELIX 8..20
FT /evidence="ECO:0007829|PDB:1EI0"
FT TURN 21..23
FT /evidence="ECO:0007829|PDB:1EI0"
FT HELIX 25..27
FT /evidence="ECO:0007829|PDB:1EI0"
FT HELIX 29..41
FT /evidence="ECO:0007829|PDB:1EI0"
FT HELIX 44..46
FT /evidence="ECO:0007829|PDB:1HP8"
FT HELIX 48..59
FT /evidence="ECO:0007829|PDB:1HP8"
FT TURN 60..63
FT /evidence="ECO:0007829|PDB:1HP8"
SQ SEQUENCE 68 AA; 7747 MW; 0646725C35A915D9 CRC64;
MPQKDPCQKQ ACEIQKCLQA NSYMESKCQA VIQELRKCCA QYPKGRSVVC SGFEKEEEEN
LTRKSASK
