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

Gene ID: 100272147, updated on 16-Mar-2024

Summary

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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 MIM:301088; AllianceGenome:HGNC:35428
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

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Location:
Xq28
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (155061622..155071136, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153298030..153307544, complement)
105.20220307 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 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 mature T cell proliferation 1 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
  • 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. Solution structure of human p8MTCP1, a cysteine-rich protein encoded by the MTCP1 oncogene, reveals a new alpha-helical assembly motif. Barthe P, et al. J Mol Biol, 1997 Dec 19. PMID 9405159
  2. Genome-wide analysis of eukaryotic twin CX9C proteins. Cavallaro G. Mol Biosyst, 2010 Dec. PMID 20922212
  3. MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations. Stern MH, et al. Oncogene, 1993 Sep. PMID 8361760
  4. 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, et al. Oncogene, 1994 Dec. PMID 7970717
  5. The 8 kD product of the putative oncogene MTCP-1 is a mitochondrial protein. Madani A, et al. Oncogene, 1995 Jun 1. PMID 7784073

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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_001018024.3 → NP_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, Q5HYP9
    Related
    ENSP00000358496.3, ENST00000369484.8
    Conserved Domains (1) summary
    pfam08991
    Location:6 → 59
    MTCP1; Mature-T-Cell Proliferation I type

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    153298030..153307544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56277.1 GenPept UniProtKB/Swiss-Prot:P56277

Gene LinkOut

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