Seroatlas · Human Serome Atlas

CHCHD4

Mitochondrial intermembrane space import and assembly protein 40

Also known as: FLJ31709, MIA40, MIA40_HUMAN, TIMM40

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N4Q1
Gene: CHCHD4
Ensembl: ENSG00000163528
Chromosome: 3
Canonical length: 142 aa
Protein class: Predicted intracellular proteins
Subcellular location: Mitochondria
Quaternary structure: Homooligomer

OverviewNCBI Gene

CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

142 residues, UniProt reviewed canonical sequence.

>Q8N4Q1|CHCHD4
     1  MSYCRQEGKD RIIFVTKEDH ETPSSAELVA DDPNDPYEEH GLILPNGNIN WNCPCLGGMA
    61  SGPCGEQFKS AFSCFHYSTE EIKGSDCVDQ FRAMQECMQK YPDLYPQEDE DEEEEREKKP
   121  AEQAEETAPI EATATKEEEG SS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHCHD4 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: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 32 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 32 nTPM
tongue: 27 nTPM
heart muscle: 24 nTPM
parathyroid gland: 22 nTPM
kidney: 20 nTPM
colon: 18 nTPM

Single-cell type

parietal cells: 53 nCPM
differentiating spermatogonia: 47 nCPM
esophageal basal cells: 42 nCPM
gastric progenitor cells: 32 nCPM
early primary spermatocytes: 32 nCPM
migrating cytotrophoblasts: 31 nCPM

Immune cell

myeloid DC: 26 nTPM
non-classical monocyte: 25 nTPM
intermediate monocyte: 24 nTPM
naive B-cell: 22 nTPM
NK-cell: 22 nTPM
naive CD4 T-cell: 17 nTPM

Brain region

hypothalamus: 14 nTPM
midbrain: 13 nTPM
cerebral cortex: 13 nTPM
choroid plexus: 12 nTPM
white matter: 11 nTPM
medulla oblongata: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHCHD4.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 25 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

8 conditions

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): 0.95
gnomAD pLI: 0.19
gnomAD missense Z: 0.88
DepMap mean gene effect: -0.98
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

protein-disulfide reductase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

CHCH
CHCH domain
Mitochondrial intermembrane space import and assembly protein 40

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CHCHD4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CHCHD4 as an antibody target. Whether an autoantibody or antibody against CHCHD4 could matter depends on whether native CHCHD4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHCHD4 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 CHCHD4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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