CA1

Protein identityUniProt · HPA

UniProt accession

P00915

Gene

CA1

Ensembl

ENSG00000133742

Chromosome

8

Canonical length

261 aa

Protein class

Enzymes, FDA approved drug targets, Metabolic proteins, Plasma 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. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Canonical amino-acid sequenceUniProt

261 residues, UniProt reviewed canonical sequence.

>P00915|CA1
     1  MASPDWGYDD KNGPEQWSKL YPIANGNNQS PVDIKTSETK HDTSLKPISV SYNPATAKEI
    61  INVGHSFHVN FEDNDNRSVL KGGPFSDSYR LFQFHFHWGS TNEHGSEHTV DGVKYSAELH
   121  VAHWNSAKYS SLAEAASKAD GLAVIGVLMK VGEANPKLQK VLDALQAIKT KGKRAPFTNF
   181  DPSTLLPSSL DFWTYPGSLT HPPLYESVTW IICKESISVS SEQLAQFRSL LSNVEGDNAV
   241  PMQHNNRPTQ PLKGRTVRAS F

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CA1 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)

0.24

Highest tissue expression

1,982 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CA1.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 41 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Carbonic anhydrase I, Guam
• Carbonic anhydrase I deficiency

Disease | ImmuneIEDB

Conditions an epitope on CA1 was assayed in.

• transplant-related disease and allo-reactivity B cell

ReferencesPubMed · IEDB

Publications for CA1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

1.68

gnomAD pLI

0

gnomAD missense Z

-0.21

DepMap mean gene effect

0.07

DepMap dependency class

none

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

Biological processes

• response to fructose

Molecular functions

• arylesterase activity
• carbonate dehydratase activity
• cyanamide hydratase activity
• hydro-lyase activity
• zinc ion binding

Cellular components

• cytoplasm
• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• Alpha carbonic anhydrase domain
• Carbonic anhydrase, alpha-class, conserved site
• Carbonic anhydrase, alpha-class
• Alpha carbonic anhydrase domain superfamily
• Eukaryotic-type carbonic anhydrase

KeywordsUniProt

• Acetylation
• Cytoplasm
• Lyase
• Metal-binding
• Zinc