CHCHD3
MICOS complex subunit MIC19
Also known as: FLJ20420, Mic19, MIC19_HUMAN, MICOS19, MINOS3, PPP1R22
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NX63
- Gene
- CHCHD3
- Ensembl
- ENSG00000106554
- Chromosome
- 7
- Canonical length
- 227 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Canonical amino-acid sequenceUniProt
227 residues, UniProt reviewed canonical sequence.
>Q9NX63|CHCHD3
1 MGGTTSTRRV TFEADENENI TVVKGIRLSE NVIDRMKESS PSGSKSQRYS GAYGASVSDE
61 ELKRRVAEEL ALEQAKKESE DQKRLKQAKE LDRERAAANE QLTRAILRER ICSEEERAKA
121 KHLARQLEEK DRVLKKQDAF YKEQLARLEE RSSEFYRVTT EQYQKAAEEV EAKFKRYESH
181 PVCADLQAKI LQCYRENTHQ TLKCSALATQ YMHCVNHAKQ SMLEKGGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHCHD3 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)
- 0.51
- Highest tissue expression
- 330 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 330 nTPM
- tongue: 227 nTPM
- heart muscle: 118 nTPM
- parathyroid gland: 56 nTPM
- duodenum: 53 nTPM
- kidney: 51 nTPM
Single-cell type
- myonuclei: 576 nCPM
- choroid plexus epithelial cells: 391 nCPM
- distal convoluted tubule cells: 340 nCPM
- renal connecting tubule cells: 333 nCPM
- renal collecting duct intercalated cells: 306 nCPM
- enteric stem cells: 304 nCPM
Immune cell
- intermediate monocyte: 63 nTPM
- myeloid DC: 58 nTPM
- non-classical monocyte: 52 nTPM
- plasmacytoid DC: 50 nTPM
- NK-cell: 45 nTPM
- classical monocyte: 44 nTPM
Brain region
- cerebral cortex: 43 nTPM
- choroid plexus: 37 nTPM
- cerebellum: 35 nTPM
- white matter: 34 nTPM
- hippocampal formation: 32 nTPM
- medulla oblongata: 32 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)
- 0.64
- gnomAD pLI
- 0.03
- gnomAD missense Z
- 0.37
- DepMap mean gene effect
- -0.32
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- MICOS complex subunit MIC19/MIC25
- MICOS complex subunit MIC19/MIC25
- MICOS complex subunit Mic19
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CHCHD3 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 CHCHD3 as an antibody target. Whether an autoantibody or antibody against CHCHD3 could matter depends on whether native CHCHD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHCHD3 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 CHCHD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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