Seroatlas · Human Serome Atlas

UQCC1

Ubiquinol-cytochrome c reductase complex assembly factor 1

Also known as: BFZB, C20orf44, CBP3, FLJ10850, UQCC, UQCC1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NVA1
Gene
UQCC1
Ensembl
ENSG00000101019
Chromosome
20
Canonical length
299 aa
Protein class
Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm,Plasma membrane,Actin filaments

OverviewNCBI Gene

This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

299 residues, UniProt reviewed canonical sequence.

>Q9NVA1|UQCC1
     1  MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS RACGGSEQIP
    61  GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WKIKIAALRM
   121  YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW
   181  EDVQQRGRVM GVNPYILKKN MILMTNHFYA AILGYDEGIL SDDHGLAAAL WRTFFNRKCE
   241  DPRHLELLVE YVRKQIQYLD SMNGEDLLLT GEVSWRPLVE KNPQSILKPH SPTYNDEGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UQCC1 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
100 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 100 nTPM
  • tongue: 99 nTPM
  • heart muscle: 52 nTPM
  • parathyroid gland: 35 nTPM
  • cerebellum: 32 nTPM
  • cerebral cortex: 30 nTPM

Single-cell type

  • myonuclei: 247 nCPM
  • retinal ganglion cells: 147 nCPM
  • choroid plexus epithelial cells: 116 nCPM
  • cardiomyocytes: 115 nCPM
  • distal convoluted tubule cells: 94 nCPM
  • brain inhibitory neurons: 94 nCPM

Immune cell

  • basophil: 29 nTPM
  • NK-cell: 23 nTPM
  • MAIT T-cell: 18 nTPM
  • naive CD4 T-cell: 17 nTPM
  • myeloid DC: 17 nTPM
  • naive B-cell: 16 nTPM

Brain region

  • pons: 41 nTPM
  • medulla oblongata: 36 nTPM
  • cerebral cortex: 35 nTPM
  • basal ganglia: 34 nTPM
  • midbrain: 34 nTPM
  • hypothalamus: 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)
1.04
gnomAD pLI
0
gnomAD missense Z
0.41
DepMap mean gene effect
-0.25
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Ubiquinol-cytochrome c chaperone, CBP3
  • Ubiquinol-cytochrome c chaperone
  • Ubiquinol-cytochrome C chaperone

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of UQCC1 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 UQCC1 as an antibody target. Whether an autoantibody or antibody against UQCC1 could matter depends on whether native UQCC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

UQCC1 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 UQCC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/UQCC1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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