CMC4
Cx9C motif-containing protein 4
Also known as: CMC4_HUMAN, MTCP1, MTCP1NB, p8, P8MTCP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P56277
- Gene
- CMC4
- Ensembl
- ENSG00000182712
- Chromosome
- X
- Canonical length
- 68 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
- Subcellular location
- Mitochondria
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
68 residues, UniProt reviewed canonical sequence.
>P56277|CMC4
1 MPQKDPCQKQ ACEIQKCLQA NSYMESKCQA VIQELRKCCA QYPKGRSVVC SGFEKEEEEN
61 LTRKSASKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CMC4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 49 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 49 nTPM
- skeletal muscle: 34 nTPM
- pancreas: 31 nTPM
- spinal cord: 30 nTPM
- blood vessel: 26 nTPM
- midbrain: 26 nTPM
Single-cell type
- parietal cells: 19 nCPM
- oocytes: 18 nCPM
- gastric chief cells: 13 nCPM
- hepatocytes: 8 nCPM
- schwann cells: 7.5 nCPM
- oligodendrocytes: 6.3 nCPM
Immune cell
- NK-cell: 23 nTPM
- eosinophil: 22 nTPM
- myeloid DC: 20 nTPM
- memory B-cell: 19 nTPM
- naive B-cell: 19 nTPM
- MAIT T-cell: 15 nTPM
Brain region
- medulla oblongata: 20 nTPM
- white matter: 19 nTPM
- cerebellum: 18 nTPM
- basal ganglia: 17 nTPM
- hypothalamus: 17 nTPM
- spinal cord: 17 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.7
- gnomAD pLI
- 0.16
- gnomAD missense Z
- 0.17
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cysteine alpha-hairpin motif superfamily
- Cx9C motif-containing protein 4
- Cx9C motif-containing protein 4
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CMC4 as an antibody target. Whether an autoantibody or antibody against CMC4 could matter depends on whether native CMC4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CMC4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CMC4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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