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MTCP1 (Mature T Cell Proliferation 1)

Written1998-03Marc-Henri Stern
Unité INSERM U462, Centre Hayem, Hopital Saint Louis, 75475 Paris Cedex 10, France

(Note : for Links provided by Atlas : click)

Identity

Other namesC6.1B
HGNC (Hugo) MTCP1
LocusID (NCBI) 4515
Atlas_Id 89
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 154292309 and ends at 154299547 bp from pter ( according to hg19-Feb_2009)  [Mapping MTCP1.png]
Local_order centromere- Factor VIII - c6.1A - MTCP1 - telomere
 
  MTCP1 (Xq28) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
MTCP1 (Xq28) / TRA ()TRA () / MTCP1 (Xq28)

DNA/RNA

 
  DNA Diagram
Description 7 exons; about 10 kb
Transcription complex; alternative splicing: two donor sites in exon 1; transcripts A, the most abondant, ubiquitous: splicing from exon 1 to exon 6; transcripts B, rare: splicing from exon 1 to exon 2; initiation of the transcription: an alternative site of initiation of the transcription in intron 1 has been found in one tumor with a translocation breakpoint in intron 1

Protein

Description p8 MTCP1: coded by transcripts A, 68 amino acids; one domain formed by 3 alpha helices held together by two disulphide bridges in an antiparallel coiled-coil motif p13 MTCP1: coded by transcripts B, 107 amino acides; one domain with a b-barrel topology
Expression ubiquitously expressed protein expression undetectable in physiological conditions
Localisation mitochondrial cytosol
Function unknown unknown
Homology none TCL1 (39% identity, similar tridimentional structure)

Implicated in

Note
Entity t(X;14)(q28;q12) / prolymphocytic leukaemia --> TCRA/D - MTCP1
Disease T-cell prolymphocytic leukaemia
Cytogenetics associated with i(8q)
Hybrid/Mutated Gene unconstant TCRA-c6.1A transcripts have been described
Abnormal Protein none
Oncogenesis over expression of p13 MTCP1 is considered as critical in the oncogenetic mechanism
  
Entity t(X;7)(q28;q35) / prolymphocytic leukaemia --> TCRB - MTCP1
Disease T-cell prolymphocytic leukemia
Oncogenesis over expression of p13 MTCP1
  

Bibliography

The chromosomal translocation t(X;14)(q28;q11) in T-cell pro-lymphocytic leukaemia breaks within one gene and activates another.
Fisch P, Forster A, Sherrington PD, Dyer MJ, Rabbitts TH
Oncogene. 1993 ; 8 (12) : 3271-3276.
PMID 8247530
 
The MTCP-1/c6.1B gene encodes for a cytoplasmic 8 kD protein overexpressed in T cell leukemia bearing a t(X;14) translocation.
Soulier J, Madani A, Cacheux V, Rosenzwajg M, Sigaux F, Stern MH
Oncogene. 1994 ; 9 (12) : 3565-3570.
PMID 7970717
 
A gene on chromosome Xq28 associated with T-cell prolymphocytic leukemia in two patients with ataxia telangiectasia.
Thick J, Mak YF, Metcalfe J, Beatty D, Taylor AM
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1994 ; 8 (4) : 564-573.
PMID 8152252
 
Expression of p13MTCP1 is restricted to mature T-cell proliferations with t(X;14) translocations.
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
Blood. 1996 ; 87 (5) : 1923-1927.
PMID 8634440
 
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.
Thick J, Metcalfe JA, Mak YF, Beatty D, Minegishi M, Dyer MJ, Lucas G, Taylor AM
Oncogene. 1996 ; 12 (2) : 379-386.
PMID 8570215
 
Solution structure of human p8MTCP1, a cysteine-rich protein encoded by the MTCP1 oncogene, reveals a new alpha-helical assembly motif.
Barthe P, Yang YS, Chiche L, Hoh F, Strub MP, Guignard L, Soulier J, Stern MH, van Tilbeurgh H, Lhoste JM, Roumestand C
Journal of molecular biology. 1997 ; 274 (5) : 801-815.
PMID 9405159
 
Alternative origin of p13MTCP1-encoding transcripts in mature T-cell proliferations with t(X;14) translocations.
Gritti C, Choukroun V, Soulier J, Madani A, Dastot H, Leblond V, Radford-Weiss I, Valensi F, Varet B, Sigaux F, Stern MH
Oncogene. 1997 ; 15 (11) : 1329-1335.
PMID 9315101
 
Solution structure of the recombinant human oncoprotein p13MTCP1.
Yang YS, Guignard L, Padilla A, Hoh F, Strub MP, Stern MH, Lhoste JM, Roumestand C
Journal of biomolecular NMR. 1998 ; 11 (3) : 337-354.
PMID 9691281
 

Citation

This paper should be referenced as such :
Stern, MH
MTCP1 (mature T cell proliferation 1)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):37-38.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MTCP1ID89.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(7;14)(q35;q32.1) TRB/TCL1A;inv(14)(q11q32.1) TRA-TRD/TCL1A;t(14;14)(q11;q32.1) TRA-TRD/TCL1A
T-lineage acute lymphoblastic leukemia (T-ALL)
Classification of T-Cell disorders
T-cell prolymphocytic leukemia (T-PLL)
t(X;14)(q28;q11.2) TRA-TRD/MTCP1;t(X;7)(q28;q34) TRB/MTCP1

External links

Nomenclature
HGNC (Hugo)MTCP1   7423
Cards
AtlasMTCP1ID89
Entrez_Gene (NCBI)MTCP1  4515  mature T-cell proliferation 1
AliasesP13MTCP1; p8MTCP1
GeneCards (Weizmann)MTCP1
Ensembl hg19 (Hinxton)ENSG00000214827 [Gene_View]  chrX:154292309-154299547 [Contig_View]  MTCP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000214827 [Gene_View]  chrX:154292309-154299547 [Contig_View]  MTCP1 [Vega]
ICGC DataPortalENSG00000214827
TCGA cBioPortalMTCP1
AceView (NCBI)MTCP1
Genatlas (Paris)MTCP1
WikiGenes4515
SOURCE (Princeton)MTCP1
Genomic and cartography
GoldenPath hg19 (UCSC)MTCP1  -     chrX:154292309-154299547 -  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MTCP1  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblMTCP1 - Xq28 [CytoView hg19]  MTCP1 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIMTCP1 [Mapview hg19]  MTCP1 [Mapview hg38]
OMIM300116   
Gene and transcription
Genbank (Entrez)AA744518 AW976554
RefSeq transcript (Entrez)NM_001018025 NM_014221
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_029506 NT_011681 NW_004929448
Consensus coding sequences : CCDS (NCBI)MTCP1
Cluster EST : UnigeneHs.6917 [ NCBI ]
CGAP (NCI)Hs.6917
Alternative Splicing GalleryENSG00000214827
Gene ExpressionMTCP1 [ NCBI-GEO ]   MTCP1 [ EBI - ARRAY_EXPRESS ]   MTCP1 [ SEEK ]   MTCP1 [ MEM ]
Gene Expression Viewer (FireBrowse)MTCP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4515
GTEX Portal (Tissue expression)MTCP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56278 (Uniprot)
NextProtP56278  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56278
Splice isoforms : SwissVarP56278 (Swissvar)
PhosPhoSitePlusP56278
Domains : Interpro (EBI)TCL1_MTCP1   
Domain families : Pfam (Sanger)TCL1_MTCP1 (PF01840)   
Domain families : Pfam (NCBI)pfam01840   
Domain structure : Prodom (Prabi Lyon)TCL1_MTCP1 (PD015575)   
DMDM Disease mutations4515
Blocks (Seattle)MTCP1
PDB (SRS)1A1X    1QTT    1QTU   
PDB (PDBSum)1A1X    1QTT    1QTU   
PDB (IMB)1A1X    1QTT    1QTU   
PDB (RSDB)1A1X    1QTT    1QTU   
Structural Biology KnowledgeBase1A1X    1QTT    1QTU   
SCOP (Structural Classification of Proteins)1A1X    1QTT    1QTU   
CATH (Classification of proteins structures)1A1X    1QTT    1QTU   
SuperfamilyP56278
Human Protein AtlasENSG00000214827
Peptide AtlasP56278
HPRD02122
IPIIPI00447137   IPI00964570   
Protein Interaction databases
DIP (DOE-UCLA)P56278
IntAct (EBI)P56278
FunCoupENSG00000214827
BioGRIDMTCP1
STRING (EMBL)MTCP1
ZODIACMTCP1
Ontologies - Pathways
QuickGOP56278
Ontology : AmiGOmitochondrion  cell proliferation  
Ontology : EGO-EBImitochondrion  cell proliferation  
Pathways : KEGGPI3K-Akt signaling pathway   
NDEx Network
Atlas of Cancer Signalling NetworkMTCP1
Wikipedia pathwaysMTCP1
Orthology - Evolution
OrthoDB4515
GeneTree (enSembl)ENSG00000214827
Phylogenetic Trees/Animal Genes : TreeFamMTCP1
Homologs : HomoloGeneMTCP1
Homology/Alignments : Family Browser (UCSC)MTCP1
Gene fusions - Rearrangements
Fusion : MitelmanTRA/MTCP1 [-/Xq28]  [t(X;14)(q28;q11)]  
Polymorphisms : SNP, variants
NCBI Variation ViewerMTCP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTCP1
dbVarMTCP1
ClinVarMTCP1
1000_GenomesMTCP1 
Exome Variant ServerMTCP1
ExAC (Exome Aggregation Consortium)MTCP1 (select the gene name)
Genetic variants : HAPMAP4515
Genomic Variants (DGV)MTCP1 [DGVbeta]
Mutations
ICGC Data PortalMTCP1 
TCGA Data PortalMTCP1 
Broad Tumor PortalMTCP1
OASIS PortalMTCP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTCP1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MTCP1
DgiDB (Drug Gene Interaction Database)MTCP1
DoCM (Curated mutations)MTCP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTCP1 (select a term)
intoGenMTCP1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:154292309-154299547  ENSG00000214827
CONAN: Copy Number AnalysisMTCP1 
Mutations and Diseases : HGMDMTCP1
OMIM300116   
MedgenMTCP1
Genetic Testing Registry MTCP1
NextProtP56278 [Medical]
TSGene4515
GENETestsMTCP1
Huge Navigator MTCP1 [HugePedia]
snp3D : Map Gene to Disease4515
BioCentury BCIQMTCP1
ClinGenMTCP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4515
Chemical/Pharm GKB GenePA164742098
Clinical trialMTCP1
Miscellaneous
canSAR (ICR)MTCP1 (select the gene name)
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTCP1
EVEXMTCP1
GoPubMedMTCP1
iHOPMTCP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jun 11 13:02:16 CEST 2016

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