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Aliases for CA1 Gene

Aliases for CA1 Gene

  • Carbonic Anhydrase 1 2 3
  • Carbonic Anhydrase I 2 3 4 5
  • Carbonate Dehydratase I 3 4
  • Carbonic Anhydrase B 3 4
  • EC 4.2.1.1 4 63
  • CA-I 3 4
  • CAB 3 4
  • Epididymis Secretory Protein Li 11 3
  • 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 results in multiple transcript variants. [provided by RefSeq, May 2014]

GeneCards Summary for CA1 Gene

CA1 (Carbonic Anhydrase 1) is a Protein Coding gene. Diseases associated with CA1 include occlusion precerebral artery and intracranial abscess. Among its related pathways are Metabolism and C-MYB transcription factor network. GO annotations related to this gene include carbonate dehydratase activity and hydro-lyase activity. An important paralog of this gene is CA14.

UniProtKB/Swiss-Prot for CA1 Gene

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

Gene Wiki entry for CA1 Gene

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

Genomics for CA1 Gene

Regulatory Elements for CA1 Gene

Genomic Location for CA1 Gene

Chromosome:
8
Start:
85,327,608 bp from pter
End:
85,379,014 bp from pter
Size:
51,407 bases
Orientation:
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:
    P00915-CAH1_HUMAN
    Recommended name:
    Carbonic anhydrase 1
    Protein Accession:
    P00915

    Protein attributes for CA1 Gene

    Size:
    261 amino acids
    Molecular mass:
    28870 Da
    Cofactor:
    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

Proteomics data for CA1 Gene at MOPED

Post-translational modifications for CA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for CA1 (Carbonic Anhydrase I/CA1)

Domains & Families for CA1 Gene

Gene Families for CA1 Gene

Suggested Antigen Peptide Sequences for CA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00915

UniProtKB/Swiss-Prot:

CAH1_HUMAN :
  • Belongs to the alpha-carbonic anhydrase family.
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

GENATLAS Biochemistry:
carbonic anhydrase I,cytosolic,erythrocyte
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};
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 Function:
Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea.

Enzyme Numbers (IUBMB) for CA1 Gene

Gene Ontology (GO) - Molecular Function for CA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004089 carbonate dehydratase activity IEA,TAS --
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

miRNA for CA1 Gene

miRTarBase miRNAs that target CA1

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CA1 Gene COMPARTMENTS Subcellular localization image for CA1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3
chloroplast 2
mitochondrion 2
plasma membrane 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 --
genes like me logo Genes that share ontologies with CA1: view

Pathways & Interactions for CA1 Gene

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

Interacting Proteins for CA1 Gene

Selected Interacting proteins: P00915-CAH1_HUMAN for CA1 Gene via UniProtKB I2D MINT

Gene Ontology (GO) - Biological Process for CA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dichlorphenamide Approved Pharma inhibitor, Target 2
Chlorothiazide Approved Pharma Inhibition, Inhibitor, inhibitor, Target Carbonic anhydrase inhibitor 7
Acetazolamide Approved Pharma inhibitor, Target 67
Methazolamide Approved Pharma inhibitor, Target Carbonic anhydrase inhibitor 7
Brinzolamide Approved Pharma inhibitor, Target CA II inhibitor 59

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with CA1: view

Transcripts for CA1 Gene

Unigene Clusters for CA1 Gene

Carbonic anhydrase I:
Representative Sequences:

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: - - - - - - - - -
SP12:
SP13: - - - - - - - - - -
SP14: - - - - - - - - - -
SP15: - - - - - - - - -
SP16: - - -
SP17: - - - - - - - - - - -
SP18: - - - - - - - - - - - -
SP19: - -
SP20: -

ExUns: 16b · 16c · 16d · 16e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for CA1 Gene

GeneLoc Exon Structure for
CA1
ECgene alternative splicing isoforms for
CA1

Expression for CA1 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for CA1 Gene Hs.23118

genes like me logo Genes that share expression patterns with CA1: view

Protein tissue co-expression partners for CA1 Gene

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CA1 35
  • 99.62 (n)
  • 99.23 (a)
CA1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 79 (a)
OneToMany
CA1 36
  • 79 (a)
OneToMany
CA1 35
  • 83.14 (n)
  • 79.31 (a)
dog
(Canis familiaris)
Mammalia CA1 35
  • 86.97 (n)
  • 84.29 (a)
CA1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Car1 16
Car1 36
  • 78 (a)
OneToOne
Car1 35
  • 81.86 (n)
  • 78.16 (a)
oppossum
(Monodelphis domestica)
Mammalia CA1 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ca1 35
  • 82.25 (n)
  • 81.23 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496485 35
  • 66.16 (n)
  • 62.07 (a)
Str.15630 35
zebrafish
(Danio rerio)
Actinopterygii ca2 36
  • 62 (a)
ManyToMany
cahz 36
  • 61 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CAH1 37
  • 47 (a)
CAH1 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cah-3 37
  • 33 (a)
Species with no ortholog for CA1:
  • 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

ENSEMBL:
Gene Tree for CA1 (if available)
TreeFam:
Gene Tree for CA1 (if available)

Paralogs for CA1 Gene

Paralogs for CA1 Gene

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 Sequence Context AA Info Type
VAR_001378 -
VAR_001379 -
rs7821248 - 85,333,547(+) TAACT(A/G)CCAAA reference, missense
rs1303807 -- 85,339,489(-) atagg(C/G)agact intron-variant
rs1032551 -- 85,342,850(-) AAATT(C/G)CTCCT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv831377 CNV Gain 17160897
esv2658426 CNV Deletion 23128226

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)

Relevant External Links for CA1 Gene

HapMap Linkage Disequilibrium report
CA1
Human Gene Mutation Database (HGMD)
CA1

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

Disorders for CA1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
occlusion precerebral artery
  • occlusion and stenosis of multiple and bilateral precerebral arteries
intracranial abscess
transient global amnesia
  • tga
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

Relevant External Links for CA1

Genetic Association Database (GAD)
CA1
Human Genome Epidemiology (HuGE) Navigator
CA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CA1
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. 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 23 67
  2. Vasoconstrictive drugs increase carbonic anhydrase I in vascular smooth muscle while vasodilating drugs reduce the activity of this isozyme by a direct mechanism of action. (PMID: 11392054) Puscas I. … Hecht A. (Drugs Exp Clin Res 2001) 3 23 25
  3. Indomethacin activates carbonic anhydrase and antagonizes the effect of the specific carbonic anhydrase inhibitor acetazolamide, by a direct mechanism of action. (PMID: 11430635) Puscas I. … Hecht A. (Int J Clin Pharmacol Ther 2001) 23 25 26
  4. Nonsteroidal anti-inflammatory drugs activate carbonic anhydrase by a direct mechanism of action. (PMID: 8667211) Puscas I. … Pasca R. (J. Pharmacol. Exp. Ther. 1996) 23 25 26
  5. Inhibitory effect of zonisamide on human carbonic anhydrase in vitro. (PMID: 8494570) Masuda Y. … Karasawa T. (Arzneimittelforschung 1993) 23 25 26

Products for CA1 Gene

Sources for CA1 Gene

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