Seroatlas · Human Serome Atlas

HCCS

Holocytochrome c-type synthase

Also known as: CCHL, CCHL_HUMAN, MLS

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

Protein identityUniProt · HPA

UniProt accession: P53701
Gene: HCCS
Ensembl: ENSG00000004961
Chromosome: X
Canonical length: 268 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

268 residues, UniProt reviewed canonical sequence.

>P53701|HCCS
     1  MGLSPSAPAV AVQASNASAS PPSGCPMHEG KMKGCPVNTE PSGPTCEKKT YSVPAHQERA
    61  YEYVECPIRG TAAENKENLD PSNLMPPPNQ TPAPDQPFAL STVREESSIP RADSEKKWVY
   121  PSEQMFWNAM LKKGWKWKDE DISQKDMYNI IRIHNQNNEQ AWKEILKWEA LHAAECPCGP
   181  SLIRFGGKAK EYSPRARIRS WMGYELPFDR HDWIINRCGT EVRYVIDYYD GGEVNKDYQF
   241  TILDVRPALD SLSAVWDRMK VAWWRWTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HCCS 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): 0.4
Highest tissue expression: 60 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 60 nTPM
tongue: 53 nTPM
heart muscle: 37 nTPM
parathyroid gland: 24 nTPM
duodenum: 22 nTPM
liver: 21 nTPM

Single-cell type

oocytes: 101 nCPM
esophageal suprabasal cells: 68 nCPM
esophageal apical cells: 64 nCPM
tuft cells: 58 nCPM
hofbauer cells: 53 nCPM
esophageal basal cells: 52 nCPM

Immune cell

intermediate monocyte: 67 nTPM
myeloid DC: 62 nTPM
non-classical monocyte: 58 nTPM
plasmacytoid DC: 56 nTPM
classical monocyte: 48 nTPM
memory B-cell: 39 nTPM

Brain region

choroid plexus: 15 nTPM
cerebral cortex: 14 nTPM
hippocampal formation: 12 nTPM
cerebellum: 11 nTPM
hypothalamus: 11 nTPM
medulla oblongata: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HCCS.

Disease | AllUniProt

Conditions HCCS is implicated in, by any mechanism.

Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) MIM:309801

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 137 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Linear skin defects with multiple congenital anomalies 1
HCCS-related disorder

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): 0.41
gnomAD pLI: 0.89
gnomAD missense Z: 1.2
DepMap mean gene effect: -0.14
DepMap dependency class: selective

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

heme binding
metal ion binding
holocytochrome-c synthase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Holocytochrome c/c1 synthase
Cytochrome c/c1 heme lyase

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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