Gene Report

Gene: MTCP1     Link to MethyView
Summary
Gene symbol MTCP1
Alias C6.1B, MTCP1
Cytogenetic Location Xq28
Type KNOWN
Property protein_coding
Description P8 MTCP-1 protein (Mature T-cell proliferation-1 type A) (MTCP-1 type A) (P8MTCP1) [C6.1B]
External Links
   Ensembl ENSG00000182712
   OMIM 300116
   mRNA NM_014221.3 NM_001018024.1 NM_001018025.2
   SwissProt P56277 P56278
 
Diseases(Cancers)
Cancer Name T-cell prolymphocytic leukemia (T-PLL)
Description From cancer gene census of CGP: "
  • as with other T-cell neoplasms, T-PLL exhibits clonal rearrangement of T-cell receptor genes; translocation t(X;14)(q28;q11) may result into fusion of MTCP1 with TRA/Dgenes; finally, the TCL1 locus on chromosome 14q32 might also been involved
  • in Ataxia Telangiectasia- a rare recessive pleiotropic disease (including elevated cancer predisposition) mapping to 11q23 and caused by mutations of theATM gene - a recurrent malignancy is observed that is similar to T-PLL; its frequency in A-T patients is higher than in the non-A-T related form; A-T related TPLL has a similar course, a similar immunophenotype and similar cytogenetics (with the notable exception that 11q23 breakpoints are recurrent in the sporadic but not the A-T related form of the disease); an initial report of ATM mutations in T-PLL demonstrated the principle that ATM was a candidate cancer gene in sporadic forms of malignancies prevalent in A-T; the identification of lesions in ATM associated with T-PLL has shown that:
  • homozygous truncating mutations are present in some cases; this suggests ATM can appear to act like a conventional tumour suppressor with biallelic inactivation in the tumour cell
  • missense mutations cluster in the carboxy-terminal phosphatidyl-3-kinase (PIK) domain; this suggests impairment of this domain can contribute to - and may constitute a distinct step in - tumourigenesis
  • rearrangement of the gene is frequent; some rearrangements are consistent with a translocation event, in agreement with cytogenetic data implicating 11q23 in T-PLL; others involve transposition of a segment of the ATM gene elsewhere in the genome.
  • one allele only is mutated (by rearrangement) in some cases; this is probably not associated with a concomitant epigenetic event such as abnormal promoter methylation
  • no T-PLL case has been reported with germline ATM mutation; this may reflect the small numbers investigated; all the same, the hypothesis is excluded that this rare disease is due solely to germline ATM mutation "
  •  
    Cancer Name inv(14)(q11q32.1)
    Description The MTCP1 is located at Xq28 and activated in rare cases of T-PLL with a t(X;14)(q28;q11) translocation.MTCP1 encodes for two proteins p8MTCP1 and p13MTCP1
     
     
    Genomic Regions, Transcripts and Proteins
    Gene Structure <0...1365>, <1452...1503>, <1585...1755>, <1872...2023>, <6660...7192>
    Ensembl Transcript ENST00000369476
    Ensembl Protein ENSP00000358488
    Gene Ontology GO:0008283 TAS Generated via P01135
    GO:0000074 TAS Generated via P01135
     
    Gene Structure <0...363>, <2338...2405>, <3309...3740>
    Ensembl Transcript ENST00000369479
    Ensembl Protein ENSP00000358491
    Gene Ontology GO:0000074 TAS Generated via P01135
    GO:0008283 TAS Generated via P01135
    GO:0005739 IEA Generated via O14521
     
    Gene Structure <0...78>, <165...216>, <298...468>, <585...736>, <82339...82454>
    Ensembl Transcript ENST00000362018
    Ensembl Protein ENSP00000355058
    Gene Ontology GO:0008283 TAS Generated via P01135
    GO:0000074 TAS Generated via P01135
     
    Gene Structure <0...369>, <2344...2411>, <3864...3897>
    Ensembl Transcript ENST00000369480
    Ensembl Protein ENSP00000358492
    Gene Ontology GO:0008283 TAS Generated via P01135
    GO:0000074 TAS Generated via P01135
    GO:0005739 IEA Generated via O14521
     
    Gene Structure <0...362>, <2337...2404>, <3308...3770>, <3857...3908>, <3990...4160>, <4277...4428>, <9065...9731>
    Ensembl Transcript ENST00000330425
    Ensembl Protein ENSP00000329343
    Gene Ontology GO:0008283 TAS Generated via P01135
    GO:0000074 TAS Generated via P01135
     
    Gene Structure <0...369>, <2344...2411>, <9072...9740>
    Ensembl Transcript ENST00000369484
    Ensembl Protein ENSP00000358496
    Gene Ontology GO:0005739 IEA Generated via O14521
    GO:0000074 TAS Generated via P01135
    GO:0008283 TAS Generated via P01135
     
    Click for MenuClick for MenuClick for MenuClick for MenuClick for MenuClick for MenuClick for Menu

    DNA methylation and CGIs
    Gene MethyCancer Type Annotated cancer gene with CGI prediction
    Link to MethyView
     
    Bibliography
    Title The MTCP-1/c6.1B gene encodes for a cytoplasmic 8 kD protein overexpressed in T cell leukemia bearing a t(X;14) translocation.
    Authors Soulier J, Madani A, Cacheux V, Rosenzwajg M, Sigaux F, Stern MH
    Citations Oncogene 1994 Dec;9(12):3565-70
    PubMedID 95060814
     
    Title The chromosomal translocation t(X;14)(q28;q11) in T-cell pro-lymphocytic leukaemia breaks within one gene and activates another.
    Authors Fisch P, Forster A, Sherrington PD, Dyer MJ, Rabbitts TH
    Citations Oncogene 1993 Dec;8(12):3271-6
    PubMedID 94067776
     
    Title Expression of p13MTCP1 is restricted to mature T-cell proliferations with t(X;14) translocations.
    Authors Madani A, Choukroun V, Soulier J, Cacheux V, Claisse JF, Valensi F, Daliphard S, Cazin B, Levy V, Leblond V, Daniel MT, Sigaux F, Stern MH
    Citations Blood 1996 Mar 1;87(5):1923-7
    PubMedID 96202516
     
    Title A gene on chromosome Xq28 associated with T-cell prolymphocytic leukemia in two patients with ataxia telangiectasia.
    Authors Thick J, Mak YF, Metcalfe J, Beatty D, Taylor AM
    Citations Leukemia 1994 Apr;8(4):564-73
    PubMedID 94202904
     
    Title Solution structure of human p8MTCP1, a cysteine-rich protein encoded by the MTCP1 oncogene, reveals a new alpha-helical assembly motif.
    Authors Barthe P, Yang YS, Chiche L, Hoh F, Strub MP, Guignard L, Soulier J, Stern MH, van Tilbeurgh H, Lhoste JM, Roumestand C
    Citations J Mol Biol 1997 Dec 19;274(5):801-15
    PubMedID 98070616
     
    Title Expression of either the TCL1 oncogene, or transcripts from its homologue MTCP1/c6.1B, in leukaemic and non-leukaemic T cells from ataxia telangiectasia patients.
    Authors Thick J, Metcalfe JA, Mak YF, Beatty D, Minegishi M, Dyer MJ, Lucas G, Taylor AM
    Citations Oncogene 1996 Jan 18;12(2):379-86
    PubMedID 96152904
     
    Title Solution structure of the recombinant human oncoprotein p13MTCP1.
    Authors Yang YS, Guignard L, Padilla A, Hoh F, Strub MP, Stern MH, Lhoste JM, Roumestand C
    Citations J Biomol NMR 1998 Apr;11(3):337-54
    PubMedID 98356286
     
    Title Alternative origin of p13MTCP1-encoding transcripts in mature T-cell proliferations with t(X;14) translocations.
    Authors Gritti C, Choukroun V, Soulier J, Madani A, Dastot H, Leblond V, Radford-Weiss I, Valensi F, Varet B, Sigaux F, Stern MH
    Citations Oncogene 1997 Sep;15(11):1329-35
    PubMedID 97460719