Seroatlas · Human Serome Atlas

CA5A

Carbonic anhydrase 5A, mitochondrial

Also known as: CA5, CAH5A_HUMAN, CAV, CAVA

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

Protein identityUniProt · HPA

UniProt accession
P35218
Gene
CA5A
Ensembl
ENSG00000174990
Chromosome
16
Canonical length
305 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

305 residues, UniProt reviewed canonical sequence.

>P35218|CA5A
     1  MLGRNTWKTS AFSFLVEQMW APLWSRSMRP GRWCSQRSCA WQTSNNTLHP LWTVPVSVPG
    61  GTRQSPINIQ WRDSVYDPQL KPLRVSYEAA SCLYIWNTGY LFQVEFDDAT EASGISGGPL
   121  ENHYRLKQFH FHWGAVNEGG SEHTVDGHAY PAELHLVHWN SVKYQNYKEA VVGENGLAVI
   181  GVFLKLGAHH QTLQRLVDIL PEIKHKDARA AMRPFDPSTL LPTCWDYWTY AGSLTTPPLT
   241  ESVTWIIQKE PVEVAPSQLS AFRTLLFSAL GEEEKMMVNN YRPLQPLMNR KVWASFQATN
   301  EGTRS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CA5A 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)
0.32
Highest tissue expression
30 nTPM

Expression across tissuesHPA

Tissue

  • liver: 30 nTPM
  • cerebral cortex: 0.5 nTPM
  • appendix: 0.1 nTPM
  • bone marrow: 0.1 nTPM
  • breast: 0.1 nTPM
  • cervix: 0.1 nTPM

Single-cell type

  • hepatocytes: 91 nCPM
  • oocytes: 28 nCPM
  • megakaryocytes: 12 nCPM
  • adrenal medulla cells: 11 nCPM
  • müller glia: 7.3 nCPM
  • sertoli cells: 6.7 nCPM

Immune cell

  • neutrophil: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • cerebral cortex: 0.9 nTPM
  • pons: 0.8 nTPM
  • cerebellum: 0.6 nTPM
  • hippocampal formation: 0.6 nTPM
  • medulla oblongata: 0.6 nTPM
  • thalamus: 0.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CA5A.

Disease | AllUniProt

Conditions CA5A is implicated in, by any mechanism.

  • Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD) MIM:615751

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 232 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
  • CA5A-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)
0.97
gnomAD pLI
0
gnomAD missense Z
-1.2
DepMap mean gene effect
-0.37
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CA5A as an antibody target. Whether an autoantibody or antibody against CA5A could matter depends on whether native CA5A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CA5A 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 CA5A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CA5A. 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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