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Aliases for CMC4 Gene

Aliases for CMC4 Gene

  • C-X9-C Motif Containing 4 2 3 5
  • Mature T-Cell Proliferation 1 Neighbor Protein 3 4
  • Mature T-Cell Proliferation-1 Type A 3 4
  • Protein P8 MTCP-1 3 4
  • MTCP-1 Type A 3 4
  • MTCP1NB 3 4
  • P8MTCP1 3 4
  • MTCP1 3 4
  • C6.1B 3 4
  • C-X(9)-C Motif Containing 4 Homolog (S. Cerevisiae) 2
  • Mature T-Cell Proliferation 1, Isoform P8 2
  • Mature T-Cell Proliferation 1 Neighbor 2
  • C-X(9)-C Motif Containing 4 Homolog 3
  • Cx9C Motif-Containing Protein 4 3
  • Mature T-Cell Proliferation 1 3
  • C-X(9)-C Motif Containing 4 2
  • MTCP1B 3
  • P8 3

External Ids for CMC4 Gene

Previous HGNC Symbols for CMC4 Gene

  • MTCP1
  • MTCP1NB

Previous GeneCards Identifiers for CMC4 Gene

  • GC0XM154291

Summaries for CMC4 Gene

Entrez Gene Summary for CMC4 Gene

  • 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]

GeneCards Summary for CMC4 Gene

CMC4 (C-X9-C Motif Containing 4) is a Protein Coding gene. Among its related pathways are Mitochondrial protein import and Metabolism of proteins.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMC4 Gene

Genomics for CMC4 Gene

Regulatory Elements for CMC4 Gene

Enhancers for CMC4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF154917 0.9 Ensembl ENCODE 12 +153.1 153067 0.6 CTCF ZNF654 SP3 TRIM22 REST ZNF2 RAD21 IKZF1 SMC3 BRCC3 CMC4 MTCP1 EEF1A1P31 ENSG00000224069
GH0XF155049 0.6 Ensembl 12.6 +22.1 22062 0.2 SCRT1 CTCF ZNF654 SCRT2 RAD21 F8A1 BRCC3 CMC4 MTCP1 F8
GH0XF155067 1 ENCODE 0.8 +1.1 1110 4.9 ARID4B GLI4 ZNF2 YY1 GLIS2 ELK1 FOS SP3 YY2 NFYC DNASE1L1 CMC4 F8
GH0XF155056 1 Ensembl ENCODE 0.4 +14.0 14014 1.5 CTCF ATF1 TEAD4 ZNF2 RAD21 RFX5 TEAD3 POLR2A ZNF143 SMC3 F8A1 TMLHE FAM3A CMC4 F8
GH0XF155025 1.4 FANTOM5 ENCODE 0.2 +43.7 43705 3.7 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 YY1 ZNF207 FOS KLF13 SP3 F8A1 GAB3 IKBKG F8A2 MPP1 F8 CMC4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CMC4 on UCSC Golden Path with GeneCards custom track

Promoters for CMC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001738844 262 3401 GLI4 ZNF2 YY1 GLIS2 ELK1 SP3 YY2 NFYC REST MBD2

Genomic Location for CMC4 Gene

Chromosome:
X
Start:
155,061,622 bp from pter
End:
155,071,362 bp from pter
Size:
9,741 bases
Orientation:
Minus strand

Genomic View for CMC4 Gene

Genes around CMC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CMC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CMC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CMC4 Gene

Proteins for CMC4 Gene

  • Protein details for CMC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56277-CMC4_HUMAN
    Recommended name:
    Cx9C motif-containing protein 4
    Protein Accession:
    P56277
    Secondary Accessions:
    • Q5HYP9

    Protein attributes for CMC4 Gene

    Size:
    68 amino acids
    Molecular mass:
    7747 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CMC4 Gene

    Alternative splice isoforms for CMC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CMC4 Gene

Post-translational modifications for CMC4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CMC4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CMC4 Gene

Domains & Families for CMC4 Gene

Protein Domains for CMC4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CMC4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56277

UniProtKB/Swiss-Prot:

CMC4_HUMAN :
  • The twin Cx9C motifs are involved in the recognition by the mitochondrial disulfide relay system.
  • Belongs to the CMC4 family.
Domain:
  • The twin Cx9C motifs are involved in the recognition by the mitochondrial disulfide relay system.
  • Contains 1 CHCH (coiled coil-helix-coiled coil-helix) domain.
Family:
  • Belongs to the CMC4 family.
genes like me logo Genes that share domains with CMC4: view

No data available for Gene Families for CMC4 Gene

Function for CMC4 Gene

genes like me logo Genes that share phenotypes with CMC4: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CMC4 Gene

Localization for CMC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CMC4 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CMC4 gene
Compartment Confidence
mitochondrion 5
extracellular 3
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005758 mitochondrial intermembrane space IBA --
genes like me logo Genes that share ontologies with CMC4: view

Pathways & Interactions for CMC4 Gene

genes like me logo Genes that share pathways with CMC4: view

Pathways by source for CMC4 Gene

2 Reactome pathways for CMC4 Gene

Interacting Proteins for CMC4 Gene

Selected Interacting proteins: P56277-CMC4_HUMAN for CMC4 Gene via IID

Symbol External ID(s) Details
AKT2
EWSR1

Gene Ontology (GO) - Biological Process for CMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008283 cell proliferation TAS 8361760
genes like me logo Genes that share ontologies with CMC4: view

No data available for SIGNOR curated interactions for CMC4 Gene

Transcripts for CMC4 Gene

mRNA/cDNA for CMC4 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CMC4 Gene

C-x(9)-C motif containing 4 homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CMC4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1:
SP2: -
SP3: - - - - - -
SP4:

Relevant External Links for CMC4 Gene

GeneLoc Exon Structure for
CMC4
ECgene alternative splicing isoforms for
CMC4

Expression for CMC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CMC4 Gene

Protein differential expression in normal tissues from HIPED for CMC4 Gene

This gene is overexpressed in Fetal testis (13.1), Heart (9.3), Pancreas (8.4), and Liver (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CMC4 Gene



Protein tissue co-expression partners for CMC4 Gene

NURSA nuclear receptor signaling pathways regulating expression of CMC4 Gene:

CMC4

SOURCE GeneReport for Unigene cluster for CMC4 Gene:

Hs.6917

mRNA Expression by UniProt/SwissProt for CMC4 Gene:

P56277-CMC4_HUMAN
Tissue specificity: Expressed in many tissues with a relatively high level in skeletal muscle.
genes like me logo Genes that share expression patterns with CMC4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CMC4 Gene

Orthologs for CMC4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CMC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CMC4 34 35
  • 99.02 (n)
dog
(Canis familiaris)
Mammalia CMC4 34
  • 92.45 (n)
-- 35
  • 88 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MTCP1NB 34
  • 92.19 (n)
CMC4 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtcp1 34 16 35
  • 86.76 (n)
rat
(Rattus norvegicus)
Mammalia LOC102546764 34
  • 71.57 (n)
chicken
(Gallus gallus)
Aves MTCP1NB 34
  • 76.92 (n)
CMC4 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CMC4 35
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cmc4 35
  • 56 (a)
OneToOne
Species where no ortholog for CMC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CMC4 Gene

ENSEMBL:
Gene Tree for CMC4 (if available)
TreeFam:
Gene Tree for CMC4 (if available)

Paralogs for CMC4 Gene

No data available for Paralogs for CMC4 Gene

Variants for CMC4 Gene

Sequence variations from dbSNP and Humsavar for CMC4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs869312530 Likely benign 155,071,734(+) AGGGC(C/T)GCGGA intron-variant, upstream-variant-2KB
rs111363194 -- 155,071,542(+) CAGGT(A/G)GTGCA upstream-variant-2KB, reference, synonymous-codon
rs112325712 -- 155,061,333(+) AGCTA(C/G/T)TTGGG downstream-variant-500B
rs113922034 -- 155,061,465(+) AAAAA(A/G)GGGCG downstream-variant-500B
rs115363683 -- 155,066,798(+) GTTAC(A/G)GGAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CMC4 Gene

Variant ID Type Subtype PubMed ID
esv29972 CNV gain 17803354
esv33784 CNV gain+loss 17666407

Variation tolerance for CMC4 Gene

Residual Variation Intolerance Score: 74.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CMC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMC4 Gene

Disorders for CMC4 Gene

UniProtKB/Swiss-Prot

CMC4_HUMAN
  • Note=Overexpressed in T-cell leukemia bearing a t(X;14) translocation. {ECO:0000269 PubMed:8361760}.

Relevant External Links for CMC4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CMC4

No disorders were found for CMC4 Gene.

No data available for MalaCards and Genatlas for CMC4 Gene

Publications for CMC4 Gene

  1. Solution structure of human p8MTCP1, a cysteine-rich protein encoded by the MTCP1 oncogene, reveals a new alpha-helical assembly motif. (PMID: 9405159) Barthe P. … Roumestand C. (J. Mol. Biol. 1997) 2 3 4 64
  2. MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations. (PMID: 8361760) Stern M.-H. … Kirsch I.R. (Oncogene 1993) 2 3 4 64
  3. Genome-wide analysis of eukaryotic twin CX9C proteins. (PMID: 20922212) Cavallaro G. (Mol Biosyst 2010) 2 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The 8 kD product of the putative oncogene MTCP-1 is a mitochondrial protein. (PMID: 7784073) Madani A. … Stern M.-H. (Oncogene 1995) 3 4 64

Products for CMC4 Gene

Sources for CMC4 Gene

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