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CA1 carbonic anhydrase 1 [ Homo sapiens (human) ]

Gene ID: 759, updated on 27-Nov-2024

Summary

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Official Symbol
CA1provided by HGNC
Official Full Name
carbonic anhydrase 1provided by HGNC
Primary source
HGNC:HGNC:1368
See related
Ensembl:ENSG00000133742 MIM:114800; AllianceGenome:HGNC:1368
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAB; CA-I; Car1; HEL-S-11
Summary
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]
Expression
Biased expression in bone marrow (RPKM 551.6) and colon (RPKM 322.2) See more
Orthologs
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Genomic context

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See CA1 in Genome Data Viewer
Location:
8q21.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (85327608..85378113, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (85766342..85816813, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (86239837..86290342, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901969 Neighboring gene uncharacterized LOC105375936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:86138147-86138646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27594 Neighboring gene carbonic anhydrase 13 Neighboring gene NANOG hESC enhancer GRCh37_chr8:86229148-86229679 Neighboring gene uncharacterized LOC124901970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19337 Neighboring gene CA1 upstream erythroid promoter Neighboring gene NANOG hESC enhancer GRCh37_chr8:86316751-86317252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:86350401-86350924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:86350925-86351447 Neighboring gene CA3 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:86373749-86374444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:86376345-86376844 Neighboring gene carbonic anhydrase 3 Neighboring gene carbonic anhydrase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Decreased total carbonic anhydrase esterase activity and decreased levels of carbonic anhydrase 1 isozyme in erythrocytes of type II diabetic patients. Gambhir KK, et al. Biochem Genet, 2007 Jun. PMID 17464559
  2. 5-Substituted-(1,2,3-triazol-4-yl)thiophene-2-sulfonamides strongly inhibit human carbonic anhydrases I, II, IX and XII: solution and X-ray crystallographic studies. Leitans J, et al. Bioorg Med Chem, 2013 Sep 1. PMID 23859774
  3. Identification of human erythrocyte cytosolic proteins associated with plasma membrane during thermal stress. Sharma S, et al. J Membr Biol, 2013 Aug. PMID 23774970
  4. Autoantigenicity of carbonic anhydrase 1 in patients with abdominal aortic aneurysm, revealed by proteomic surveillance. Ando T, et al. Hum Immunol, 2013 Jul. PMID 23557951
  5. Proteomic analysis shows down-regulations of cytoplasmic carbonic anhydrases, CAI and CAII, are early events of colorectal carcinogenesis but are not correlated with lymph node metastasis. Wang N, et al. Tumori, 2012 Nov. PMID 23389367

See all (96) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Carbonic anhydrase activity in the frontal lobe of human brain.
    Title: Carbonic anhydrase activity in the frontal lobe of human brain.
  2. The Effect of Nanoparticles on the Structure and Enzymatic Activity of Human Carbonic Anhydrase I and II.
    Title: The Effect of Nanoparticles on the Structure and Enzymatic Activity of Human Carbonic Anhydrase I and II.
  3. Overexpression of CA1 mRNA and the CA I Protein in Tumor Cells Does Not Change the Gene Expression of the ECM Proteins.
    Title: Overexpression of CA1 mRNA and the CA I Protein in Tumor Cells Does Not Change the Gene Expression of the ECM Proteins.
  4. Results indicate that the reduced expression of the carbonic anhydrase I (CA1) protein enhances the malignant potential of prostatic (PC3) tumour cells.
    Title: Silencing of carbonic anhydrase I enhances the malignant potential of exosomes secreted by prostatic tumour cells.
  5. carbonic anhydrase 1 (CA1) and CA4 were identified as potential biomarkers of Colon adenocarcinoma due to their predictive roles in diagnosis and prognosis, and the results were further confirmed by a series of analyses.
    Title: Comprehensive Analysis for Identifying Diagnostic and Prognostic Biomarkers in Colon Adenocarcinoma.
  6. knock-down of the CA1 mRNA in tumour cells enhances/does not change the gene expression of the extracellular matrix (ECM) proteins.
    Title: Silencing of CA1 mRNA in tumour cells does not change the gene expression of the extracellular matrix proteins.
  7. Anti-CA I and II antibody levels were investigated using ELISA in serum samples from 30 patients with Acute Myeloid Leukemia (AML) and 30 healthy peers. Anti-CA I and II antibody titers in the AML group were significantly higher compared with the control group (p=0.0001 and 0.018, respectively).
    Title: Autoantibodies Against Carbonic Anhydrase I and II in Patients with Acute Myeloid Leukemia.
  8. These six-membered carbocycles showed nice inhibitory action against AChE and human carbonic anhydrase (hCA) II and I isoforms. The hCA I, II, and AChE were efficiently inhibited by these molecules, with Ki values in the range of 6.70-35.85 nM for hCA I, 18.77-60.84 nM for hCA II, and 0.74-4.60 for AChE, respectively
    Title: Evaluation of acetylcholinesterase and carbonic anhydrase inhibition profiles of 1,2,3,4,6-pentasubstituted-4-hydroxy-cyclohexanes.
  9. These results showed that flavonoids especially malvin and oenin effectively inhibited hCA I and II isoenzymes.
    Title: Inhibition properties of some flavonoids on carbonic anhydrase I and II isoenzymes purified from human erythrocytes.
  10. Discovery of potent carbonic anhydrase, acetylcholinesterase, and butyrylcholinesterase enzymes inhibitors: The new amides and thiazolidine-4-ones synthesized on an acetophenone base.
    Title: Discovery of potent carbonic anhydrase, acetylcholinesterase, and butyrylcholinesterase enzymes inhibitors: The new amides and thiazolidine-4-ones synthesized on an acetophenone base.
Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables arylesterase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables carbonate dehydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables carbonate dehydratase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables carbonate dehydratase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables cyanamide hydratase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hydro-lyase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
carbonic anhydrase 1
Names
carbonate dehydratase I
carbonic anhydrase B
carbonic anhydrase I
cyanamide hydratase CA1
epididymis secretory protein Li 11
epididymis secretory sperm binding protein
NP_001122301.1
NP_001122302.1
NP_001122303.1
NP_001158302.1
NP_001278896.1
NP_001278897.1
NP_001729.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016221.1 RefSeqGene

    Range
    5001..55506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001128829.4 → NP_001122301.1  carbonic anhydrase 1 isoform a

    See identical proteins and their annotated locations for NP_001122301.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 2, 3, 4 and 5 all encode isoform a. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in erythroid expression. (PMID: 1908227)
    Source sequence(s)
    AC025800, AI802646, BC027890, BU659301
    Consensus CDS
    CCDS6237.1
    UniProtKB/Swiss-Prot
    P00915
    UniProtKB/TrEMBL
    E5RHP7, V9HWE3
    Related
    ENSP00000392338.1, ENST00000431316.3
    Conserved Domains (1) summary
    cl00012
    Location:2 → 261
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

  2. NM_001128830.4 → NP_001122302.1  carbonic anhydrase 1 isoform a

    See identical proteins and their annotated locations for NP_001122302.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, 3, 4 and 5 all encode isoform a. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in erythroid expression. (PMID: 1908227)
    Source sequence(s)
    AC025800, AI802646, BC027890, BU656154
    Consensus CDS
    CCDS6237.1
    UniProtKB/Swiss-Prot
    P00915
    UniProtKB/TrEMBL
    E5RHP7, V9HWE3
    Related
    ENSP00000443517.1, ENST00000542576.5
    Conserved Domains (1) summary
    cl00012
    Location:2 → 261
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

  3. NM_001128831.4 → NP_001122303.1  carbonic anhydrase 1 isoform a

    See identical proteins and their annotated locations for NP_001122303.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. Variants 1, 2, 3, 4 and 5 all encode isoform a. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in erythroid expression. (PMID: 1908227)
    Source sequence(s)
    AC025800, AI802646, BC027890, BU663330
    Consensus CDS
    CCDS6237.1
    UniProtKB/Swiss-Prot
    P00915
    UniProtKB/TrEMBL
    E5RHP7, V9HWE3
    Related
    ENSP00000429798.1, ENST00000523022.6
    Conserved Domains (1) summary
    cl00012
    Location:2 → 261
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

  4. NM_001164830.2 → NP_001158302.1  carbonic anhydrase 1 isoform a

    See identical proteins and their annotated locations for NP_001158302.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 3. Variants 1, 2, 3, 4 and 5 all encode isoform a. This variant represents use of an alternate downstream promoter and results in colon epithelia cell expression.
    Source sequence(s)
    AC025800, AI802646, BC027890, BP261967
    Consensus CDS
    CCDS6237.1
    UniProtKB/Swiss-Prot
    P00915
    UniProtKB/TrEMBL
    E5RHP7, V9HWE3
    Related
    ENSP00000430861.1, ENST00000517618.5
    Conserved Domains (1) summary
    cl00012
    Location:2 → 261
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

  5. NM_001291967.2 → NP_001278896.1  carbonic anhydrase 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. The encoded isoform (b) is shorter than isoform a. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in erythroid expression. (PMID: 1908227)
    Source sequence(s)
    AC025800, AI802646, BU661390, BU663330
    UniProtKB/TrEMBL
    E5RFE7
    Related
    ENSP00000428923.1, ENST00000524324.5
    Conserved Domains (1) summary
    cl00012
    Location:9 → 195
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

  6. NM_001291968.2 → NP_001278897.1  carbonic anhydrase 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks two alternate exons in the 5' coding region, and initiates translation at an alternate start codon, compared to variant 3. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in erythroid expression. (PMID: 1908227)
    Source sequence(s)
    AC025800, AI802646, BU658617, BU663330
    UniProtKB/TrEMBL
    E5RJI8
    Related
    ENSP00000430543.1, ENST00000519991.5
    Conserved Domains (1) summary
    cl00012
    Location:6 → 148
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

  7. NM_001738.5 → NP_001729.1  carbonic anhydrase 1 isoform a

    See identical proteins and their annotated locations for NP_001729.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1, 2, 3, 4 and 5 all encode isoform a. This variant represents use of an upstream long terminal repeat (LTR) promoter and exon sequence, and results in erythroid expression. (PMID: 1908227)
    Source sequence(s)
    AC025800, AI802646, BC027890, EU794595
    Consensus CDS
    CCDS6237.1
    UniProtKB/Swiss-Prot
    P00915
    UniProtKB/TrEMBL
    E5RHP7, V9HWE3
    Related
    ENSP00000430656.1, ENST00000523953.5
    Conserved Domains (1) summary
    cl00012
    Location:2 → 261
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    85327608..85378113 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    85766342..85816813 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P00915.2 GenPept UniProtKB/Swiss-Prot:P00915

Gene LinkOut

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