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MTCP1 mature T cell proliferation 1 [ Homo sapiens (human) ]

Gene ID: 4515, updated on 2-Nov-2024

Summary

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Official Symbol
MTCP1provided by HGNC
Official Full Name
mature T cell proliferation 1provided by HGNC
Primary source
HGNC:HGNC:7423
See related
Ensembl:ENSG00000214827 MIM:300116; AllianceGenome:HGNC:7423
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TCL1C; p8MTCP1; P13MTCP1
Summary
This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member of the TCL1 family. This protein may be involved in leukemogenesis. [provided by RefSeq, Mar 2009]
Annotation information
Note: MTCP1 (Gene ID: 4515) and CMC4 (Gene ID: 100272147) share the MTCP1 symbol/alias in common. MTCP1 has been used as an alternative name for C-X9-C motif containing 4 (CMC4), which can be confused with the official symbol for mature T cell proliferation 1 (MTCP1). [06 Jul 2018]
Note: Prior to build 37.1, geneID:4515 (MTCP1) was annotated as a single locus expressing transcripts with two distinct protein products. The locus was subsequently split into two geneIDs, with geneID:4515 representing the upstream locus (MTCP1, aka isoform p13) and geneID:100272147 representing the downstream locus (MTCP1NB, aka isoform p8). [13 Feb 2013]
Expression
Ubiquitous expression in testis (RPKM 2.8), heart (RPKM 2.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See MTCP1 in Genome Data Viewer
Location:
Xq28
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155064034..155071136, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153300442..153307544, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154292309..154299411, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene coagulation factor VIII Neighboring gene ZNF622 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:154195537-154196736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30073 Neighboring gene int1h-1 recombination region Neighboring gene Sharpr-MPRA regulatory region 4209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21121 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:154255797-154256700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:154285543-154286044 Neighboring gene FUN14 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30074 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:154299323-154300044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:154300045-154300766 Neighboring gene C-X9-C motif containing 4 Neighboring gene BRCA1/BRCA2-containing complex subunit 3 Neighboring gene int1h-2 recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:154425831-154426332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:154426333-154426832 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:154444390-154445178 Neighboring gene VHL binding protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A gene on chromosome Xq28 associated with T-cell prolymphocytic leukemia in two patients with ataxia telangiectasia. Thick J, et al. Leukemia, 1994 Apr. PMID 8152252
  2. The MTCP1 oncogene modifies T-cell homeostasis before leukemogenesis in transgenic mice. Joiner M, et al. Leukemia, 2007 Feb. PMID 17136114
  3. Alternative origin of p13MTCP1-encoding transcripts in mature T-cell proliferations with t(X;14) translocations. Gritti C, et al. Oncogene, 1997 Sep. PMID 9315101
  4. Purification and characterization of recombinant forms of TCL-1 and MTCP-1 proteins. Du Bois GC, et al. Protein Expr Purif, 1998 Mar. PMID 9518463
  5. Crystal structure of MTCP-1: implications for role of TCL-1 and MTCP-1 in T cell malignancies. Fu ZQ, et al. Proc Natl Acad Sci U S A, 1998 Mar 31. PMID 9520380, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rare t(X;14)(q28;q32) translocation reveals link between MTCP1 and chronic lymphocytic leukemia.
    Title: Rare t(X;14)(q28;q32) translocation reveals link between MTCP1 and chronic lymphocytic leukemia.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms in mitochondrial genes and prostate cancer risk.
  3. Transgenic mice overexpressing MTCP1 develop leukemias with a CD8 central memory phenotype in most cases.
    Title: The MTCP1 oncogene modifies T-cell homeostasis before leukemogenesis in transgenic mice.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat specifically associates with MTCP1 promoter to upregulate MTCP1 expression in T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine/threonine kinase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein serine/threonine kinase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein p13 MTCP-1
Names
MTCP-1 type B1
TCL1 family AKT coactivator C
mature T-cell proliferation-1 type B1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029506.1 RefSeqGene

    Range
    5137..12239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001018025.4 → NP_001018025.1  protein p13 MTCP-1

    See identical proteins and their annotated locations for NP_001018025.1

    Status: REVIEWED

    Source sequence(s)
    AA744518, AW976554, BX470111
    Consensus CDS
    CCDS44027.1
    UniProtKB/Swiss-Prot
    P56278, Q5HYP2
    Related
    ENSP00000358488.3, ENST00000369476.8
    Conserved Domains (1) summary
    pfam01840
    Location:6 → 105
    TCL1_MTCP1; TCL1/MTCP1 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    155064034..155071136 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    153300442..153307544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014221.3: Suppressed sequence

    Description
    NM_014221.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56278.1 GenPept UniProtKB/Swiss-Prot:P56278

Gene LinkOut

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