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Aliases for CA1 Gene

Aliases for CA1 Gene

  • Carbonic Anhydrase 1 2 3 3 5
  • Carbonic Anhydrase I 2 3 4
  • Carbonate Dehydratase I 3 4
  • Carbonic Anhydrase B 3 4
  • CA-I 3 4
  • CAB 3 4
  • Epididymis Secretory Protein Li 11 3
  • EC 4
  • HEL-S-11 3
  • Car1 3

External Ids for CA1 Gene

Previous GeneCards Identifiers for CA1 Gene

  • GC08M085064
  • GC08M086197
  • GC08M086020
  • GC08M086315
  • GC08M086427
  • GC08M081734

Summaries for CA1 Gene

Entrez Gene Summary for CA1 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]

GeneCards Summary for CA1 Gene

CA1 (Carbonic Anhydrase 1) is a Protein Coding gene. Diseases associated with CA1 include Transient Global Amnesia and Occlusion Precerebral Artery. Among its related pathways are C-MYB transcription factor network and Erythrocytes take up carbon dioxide and release oxygen. Gene Ontology (GO) annotations related to this gene include carbonate dehydratase activity and hydro-lyase activity. An important paralog of this gene is CA2.

UniProtKB/Swiss-Prot for CA1 Gene

  • Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea.

Gene Wiki entry for CA1 Gene

Additional gene information for CA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA1 Gene

Genomics for CA1 Gene

GeneHancer (GH) Regulatory Elements for CA1 Gene

Promoters and enhancers for CA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J085462 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.2 -84.9 -84863 2.2 ARID4B SIN3A IRF4 ZNF48 YY1 CBX5 ZNF143 SP3 RXRA REST CA3-AS1 CA2 GC08P085464 GC08P085466 CA1
GH08J085378 Promoter 1.1 EPDnew 650.7 +0.9 881 0.1 TAF9B RB1 ARNT CHAMP1 NCOA2 TCF12 ZNF766 GATA2 E2F8 CREM CA1 CA3
GH08J085341 Promoter 0.5 EPDnew 650.3 +37.3 37280 0.1 CA1 CA3-AS1 CA3 GC08P085305
GH08J085437 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 11.3 -59.1 -59121 1.7 JUND REST CA3 CA2 CA3-AS1 CA1 LRRCC1 GC08P085382
GH08J085999 Enhancer 0.9 ENCODE dbSUPER 9.7 -623.0 -622994 4.9 MXI1 PKNOX1 JUN MAX CEBPG RAD21 RFX5 CTBP1 GATA3 RCOR1 PSKH2 CA2 CA3-AS1 CA1 ATP6V0D2 RPL36AP31
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CA1 gene promoter:
  • oct-B3
  • Oct-B1
  • oct-B2
  • POU2F2C
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • MyoD

Genomic Locations for CA1 Gene

Genomic Locations for CA1 Gene
51,407 bases
Minus strand
51,407 bases
Minus strand

Genomic View for CA1 Gene

Genes around CA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA1 Gene

Proteins for CA1 Gene

  • Protein details for CA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Carbonic anhydrase 1
    Protein Accession:

    Protein attributes for CA1 Gene

    261 amino acids
    Molecular mass:
    28870 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CA1 Gene

neXtProt entry for CA1 Gene

Post-translational modifications for CA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CA1 Gene

Domains & Families for CA1 Gene

Gene Families for CA1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the alpha-carbonic anhydrase family.
  • Belongs to the alpha-carbonic anhydrase family.
genes like me logo Genes that share domains with CA1: view

Function for CA1 Gene

Molecular function for CA1 Gene

UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea.
UniProtKB/Swiss-Prot CatalyticActivity:
H(2)CO(3) = CO(2) + H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by histamine, imidazole, L-adrenaline, L- and D-histidine, and L- and D-phenylalanine. Inhibited by coumarins, sulfonamide derivatives such as acetazolamide, benzenesulfonamide and derivatives (4-carboxyethylbenzene-sulfonamide, 4-carboxyethylbenzene-sulfonamide ethyl ester, 4-(acetyl-2-aminoethyl)benzene-sulfonamide, 4-aminoethylbenzene-sulfonamide), and prong inhibitors BR15, BR17, BR22 and BR30. Activated by a short exposition to Foscarnet (phosphonoformate trisodium salt), but inhibited by a long one. Esterase activity weakly reduced by cyanamide.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.0 mM for CO(2) {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:18618712}; KM=15 mM for 4-nitrophenyl acetate {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:18618712};
GENATLAS Biochemistry:
carbonic anhydrase I,cytosolic,erythrocyte

Enzyme Numbers (IUBMB) for CA1 Gene

Phenotypes From GWAS Catalog for CA1 Gene

Gene Ontology (GO) - Molecular Function for CA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004064 arylesterase activity IMP 7758465
GO:0004089 carbonate dehydratase activity IMP,TAS --
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with CA1: view
genes like me logo Genes that share phenotypes with CA1: view

Animal Model Products

CRISPR Products

miRNA for CA1 Gene

miRTarBase miRNAs that target CA1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CA1 Gene

Localization for CA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CA1 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
plasma membrane 2
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with CA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CA1 Gene

Pathways & Interactions for CA1 Gene

genes like me logo Genes that share pathways with CA1: view

Gene Ontology (GO) - Biological Process for CA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IEA --
GO:0015701 bicarbonate transport TAS --
GO:0035722 interleukin-12-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with CA1: view

No data available for SIGNOR curated interactions for CA1 Gene

Drugs & Compounds for CA1 Gene

(50) Drugs for CA1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dichlorphenamide Approved, Investigational Pharma inhibitor, Target 2
Chlorothiazide Approved, Vet_approved Pharma Inhibition, Inhibitor, inhibitor, Target Carbonic anhydrase inhibitor 7
Acetazolamide Approved, Vet_approved Pharma inhibitor, Target 86
Methazolamide Approved Pharma inhibitor, Target Carbonic anhydrase inhibitor 8
Brinzolamide Approved Pharma inhibitor, Target CA II inhibitor 63

(7) Additional Compounds for CA1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
genes like me logo Genes that share compounds with CA1: view

Transcripts for CA1 Gene

mRNA/cDNA for CA1 Gene

Unigene Clusters for CA1 Gene

Carbonic anhydrase I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CA1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16a ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - -
SP9: - - - - - -
SP10: - - - -
SP11: - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - - - - - - - - -
SP15: - - - - - - - - -
SP16: - - -
SP17: - - - - - - - - - - -
SP18: - - - - - - - - - - - -
SP19: - -
SP20: -

ExUns: 16b · 16c · 16d · 16e

Relevant External Links for CA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CA1 Gene

This gene is overexpressed in Colon - Transverse (x34.8) and Whole Blood (x14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CA1 Gene

Protein tissue co-expression partners for CA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CA1 Gene:


SOURCE GeneReport for Unigene cluster for CA1 Gene:


Evidence on tissue expression from TISSUES for CA1 Gene

  • Blood(5)
  • Liver(4.4)
  • Spleen(4.4)
  • Pancreas(4.2)
  • Intestine(4)
  • Nervous system(2.9)
  • Bone marrow(2.8)
  • Heart(2.2)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with CA1: view

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CA1 Gene

Orthologs for CA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CA1 34 33
  • 99.62 (n)
(Canis familiaris)
Mammalia CA1 34 33
  • 86.97 (n)
(Bos Taurus)
Mammalia CA1 34 33
  • 83.14 (n)
-- 34
  • 79 (a)
(Rattus norvegicus)
Mammalia Ca1 33
  • 82.25 (n)
(Mus musculus)
Mammalia Car1 16 34 33
  • 81.86 (n)
(Monodelphis domestica)
Mammalia CA1 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496485 33
  • 66.16 (n)
Str.15630 33
(Danio rerio)
Actinopterygii ca2 34
  • 62 (a)
cahz 34
  • 61 (a)
fruit fly
(Drosophila melanogaster)
Insecta CAH1 34 35
  • 43 (a)
(Caenorhabditis elegans)
Secernentea cah-3 35
  • 33 (a)
Species where no ortholog for CA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CA1 Gene

Gene Tree for CA1 (if available)
Gene Tree for CA1 (if available)
Evolutionary constrained regions (ECRs) for CA1: view image

Paralogs for CA1 Gene

Paralogs for CA1 Gene

(15) SIMAP similar genes for CA1 Gene using alignment to 14 proteins:

  • E5RG43_HUMAN
  • E5RG81_HUMAN
  • E5RH81_HUMAN
genes like me logo Genes that share paralogs with CA1: view

Variants for CA1 Gene

Sequence variations from dbSNP and Humsavar for CA1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs121909577 pathogenic, Carbonic anhydrase I, Guam 85,328,586(-) C/G coding_sequence_variant, missense_variant
rs121909578 pathogenic, Carbonic anhydrase I deficiency 85,328,606(-) C/T coding_sequence_variant, missense_variant
rs1000013899 -- 85,344,466(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000030142 -- 85,337,778(-) A/G intron_variant
rs1000051385 -- 85,372,169(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CA1 Gene

Variant ID Type Subtype PubMed ID
dgv1406e214 CNV loss 21293372
esv2658426 CNV deletion 23128226
esv3349053 CNV insertion 20981092
esv3369578 CNV insertion 20981092
nsv483126 CNV gain+loss 15286789
nsv831377 CNV gain 17160897

Variation tolerance for CA1 Gene

Residual Variation Intolerance Score: 84.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA1 Gene

Disorders for CA1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CA1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
transient global amnesia
  • amnesia, transient global
occlusion precerebral artery
  • occlusion and stenosis of multiple and bilateral precerebral arteries
intracranial abscess
central sleep apnea
  • central sleep apnea syndrome
carotid artery occlusion
  • occlusion and stenosis of carotid artery
- elite association - COSMIC cancer census association via MalaCards
Search CA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CA1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CA1 Gene

Publications for CA1 Gene

  1. Phosph(on)ate as a zinc-binding group in metalloenzyme inhibitors: X-ray crystal structure of the antiviral drug foscarnet complexed to human carbonic anhydrase I. (PMID: 17314045) Temperini C … Supuran CT (Bioorganic & medicinal chemistry letters 2007) 3 4 22 58
  2. Crystal structure of a zinc-activated variant of human carbonic anhydrase I, CA I Michigan 1: evidence for a second zinc binding site involving arginine coordination. (PMID: 12009884) Ferraroni M … Scozzafava A (Biochemistry 2002) 3 4 22 58
  3. Marked zinc activation of ester hydrolysis by a mutation, 67-His (CAT) to Arg (CGT), in the active site of human carbonic anhydrase I. (PMID: 7866410) Chegwidden WR … Tashian RE (Human mutation 1994) 3 4 22 58
  4. Structure and methylation patterns of the gene encoding human carbonic anhydrase I. (PMID: 2121614) Lowe N … Butterworth PH (Gene 1990) 3 4 22 58
  5. Diabetic retinopathy is not associated with carbonic anhydrase gene polymorphisms. (PMID: 19536309) Abhary S … Craig JE (Molecular vision 2009) 3 44 58

Products for CA1 Gene

Sources for CA1 Gene

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