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

Gene ID: 100272147, updated on 4-Jul-2021

Summary

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
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: 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 heart (RPKM 14.9), fat (RPKM 9.7) and 25 other tissues See more
Orthologs
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Genomic context

See CMC4 in Genome Data Viewer
Location:
Xq28
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (155061622..155071136, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154289897..154299411, 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2069

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

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 type A
protein p8 MTCP-1

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.

mRNA and Protein(s)

  1. NM_001018024.3NP_001018024.1  cx9C motif-containing protein 4

    See identical proteins and their annotated locations for NP_001018024.1

    Status: REVIEWED

    Source sequence(s)
    BC002600
    Consensus CDS
    CCDS14764.1
    UniProtKB/Swiss-Prot
    P56277
    Related
    ENSP00000358496.3, ENST00000369484.8
    Conserved Domains (1) summary
    pfam08991
    Location:659
    MTCP1; Mature-T-Cell Proliferation I type

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    155061622..155071136 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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