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CMC4 C-X9-C motif containing 4 [ Homo sapiens (human) ]

Gene ID: 100272147, updated on 3-Jun-2018
Official Symbol
CMC4provided by HGNC
Official Full Name
C-X9-C motif containing 4provided by HGNC
Primary source
HGNC:HGNC:35428
See related
Ensembl:ENSG00000182712 Vega:OTTHUMG00000158504
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
p8; C6.1B; MTCP1; MTCP1B; MTCP1NB; p8MTCP1
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 downstream 8 kDa protein that localizes to mitochondria.[provided by RefSeq, Mar 2009]
Annotation information
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 heart (RPKM 14.9), fat (RPKM 9.7) and 25 other tissues See more
Orthologs
See CMC4 in Genome Data Viewer
Location:
Xq28
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (155061622..155071272, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154289897..154299547, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene coagulation factor VIII Neighboring gene int1h-1 recombination region Neighboring gene FUN14 domain containing 2 Neighboring gene mature T cell proliferation 1 Neighboring gene BRCA1/BRCA2-containing complex subunit 3 Neighboring gene int1h-2 recombination region

  • Project title: 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 Jun 15 11:32:44 2016
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC2069

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
cx9C motif-containing protein 4
Names
C-x(9)-C motif containing 4 homolog
MTCP-1 type A
mature T-cell proliferation 1 neighbor protein
mature T-cell proliferation 1, isoform p8
mature T-cell proliferation-1 type A
protein p8 MTCP-1

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.

mRNA and Protein(s)

  1. NM_001018024.2NP_001018024.1  cx9C motif-containing protein 4

    See identical proteins and their annotated locations for NP_001018024.1

    Status: REVIEWED

    Source sequence(s)
    BC002600, BG707795
    Consensus CDS
    CCDS14764.1
    UniProtKB/Swiss-Prot
    P56277
    Related
    ENSP00000358496.3, OTTHUMP00000015489, ENST00000369484.7, OTTHUMT00000037822
    Conserved Domains (1) summary
    pfam08991
    Location:659
    MTCP1; Mature-T-Cell Proliferation I type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    155061622..155071272 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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