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Aliases for CA1 Gene

Aliases for CA1 Gene

  • Carbonic Anhydrase 1 2 3 5
  • Carbonic Anhydrase I 2 3 4
  • Carbonate Dehydratase I 3 4
  • Carbonic Anhydrase B 3 4
  • EC 4.2.1.1 4 61
  • 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 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 Intracranial Abscess. Among its related pathways are Nitrogen 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 CA2.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA1 Gene

Genomics for CA1 Gene

Regulatory Elements for CA1 Gene

Enhancers for CA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G085999 1.1 ENCODE dbSUPER 9.7 -623.0 -622995 4.9 GTF2F1 PKNOX1 MXI1 JUN MAX CHD7 CEBPG RAD21 RFX5 CTBP1 PSKH2 CA2 CA3-AS1 CA1 ATP6V0D2 RPL36AP31
GH08G085437 0.9 Ensembl ENCODE 11.3 -59.1 -59121 1.7 PKNOX1 SUZ12 TEAD4 REST RAD21 YY1 GATA3 JUND PRDM6 KDM1A CA2 CA3-AS1 CA1 LRRCC1 GC08P085382
GH08G085451 0.7 ENCODE 10.8 -72.7 -72713 0.2 CTCF PKNOX1 ZNF654 NFYA TRIM22 REST ZBTB40 RAD21 JUND ATF3 CA1 CA2 GC08P085382
GH08G085265 0.7 ENCODE 10.1 +111.6 111579 4.0 SOX5 SOX13 LEF1 MTA2 HLF CEBPB CEBPG GATA3 CTBP1 HNF1A LRRCC1 CA13 CA1 GC08M085277 LOC105375935
GH08G085351 0.5 ENCODE 12.3 +27.3 27293 0.1 CTBP1 PKNOX1 GATA3 DPF2 CA1 CA3 GC08P085305
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CA1 on UCSC Golden Path with GeneCards custom track

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

Selected DME Specific Peptides for CA1 Gene

P00915:
  • SYNPATAKEI
  • DNRSVLK
  • RPTQPLKGR
  • LQKVLDAL
  • QFHFHWG
  • FDPSTLLP
  • NVGHSFHV
  • ICKESIS
  • PIANGNNQSP
  • SVLKGGP
  • GSEHTVDGVKY
  • EQLAQFRSLL
  • KHDTSLKP
  • GSLTHPPL
  • TYPGSLT

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:0004064 arylesterase activity IMP 7758465
GO:0004089 carbonate dehydratase activity IEA,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

  • Taconic Biosciences Mouse Models for CA1

miRNA for CA1 Gene

miRTarBase miRNAs that target CA1

Inhibitory RNA 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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 IDA 23376485
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

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 --
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, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dichlorphenamide Approved Pharma inhibitor, Target 2
Chlorothiazide Approved, Vet_approved Pharma Inhibition, Inhibitor, inhibitor, Target Carbonic anhydrase inhibitor 7
Acetazolamide Approved, Vet_approved Pharma inhibitor, Target 80
Methazolamide Approved Pharma inhibitor, Target Carbonic anhydrase inhibitor 7
Brinzolamide Approved Pharma inhibitor, Target CA II inhibitor 61

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6

(3) ApexBio Compounds for CA1 Gene

Compound Action Cas Number
Chlorothiazide Carbonic anhydrase inhibitor 58-94-6
Dichlorphenamide 120-97-8
Tioxolone 0 4991-65-5
genes like me logo Genes that share compounds with CA1: view

Drug Products

Transcripts for CA1 Gene

Unigene Clusters for CA1 Gene

Carbonic anhydrase I:
Representative Sequences:

Inhibitory RNA 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: - - - - - - - - -
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 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:

CA1

SOURCE GeneReport for Unigene cluster for CA1 Gene:

Hs.23118

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)
  • Kidney(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with CA1: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia CA1 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia CA1 34 35
  • 86.97 (n)
cow
(Bos Taurus)
Mammalia CA1 34 35
  • 83.14 (n)
-- 35
  • 79 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ca1 34
  • 82.25 (n)
mouse
(Mus musculus)
Mammalia Car1 34 16 35
  • 81.86 (n)
oppossum
(Monodelphis domestica)
Mammalia CA1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496485 34
  • 66.16 (n)
Str.15630 34
zebrafish
(Danio rerio)
Actinopterygii ca2 35
  • 62 (a)
ManyToMany
cahz 35
  • 61 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CAH1 36 35
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea cah-3 36
  • 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

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

Paralogs for CA1 Gene

Variants for CA1 Gene

Sequence variations from dbSNP and Humsavar for CA1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs121909577 Pathogenic 85,328,586(-) TGAAG(C/G)GCAGA reference, missense
rs121909578 Pathogenic 85,328,606(-) CAACC(A/G)CCCAA reference, missense
rs1000013899 -- 85,344,466(+) AAAAA(A/G)CATTT intron-variant
rs1000030142 -- 85,337,778(+) ATTCA(A/G)TAAAC intron-variant
rs1000051385 -- 85,372,169(+) TGGAC(C/T)ATATG 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)

Relevant External Links for CA1 Gene

Human Gene Mutation Database (HGMD)
CA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA1

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
transient global amnesia
  • tga
intracranial abscess
central sleep apnea
  • central sleep apnea syndrome
occlusion precerebral artery
  • occlusion and stenosis of multiple and bilateral precerebral arteries
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. 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 C.T. (Bioorg. Med. Chem. Lett. 2007) 3 4 22 64
  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 64
  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 W.R. … Tashian R.E. (Hum. Mutat. 1994) 3 4 22 64
  4. Structure and methylation patterns of the gene encoding human carbonic anhydrase I. (PMID: 2121614) Lowe N. … Butterworth P.H.W. (Gene 1990) 3 4 22 64
  5. Diabetic retinopathy is not associated with carbonic anhydrase gene polymorphisms. (PMID: 19536309) Abhary S. … Craig J.E. (Mol. Vis. 2009) 3 46 64

Products for CA1 Gene

Sources for CA1 Gene

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