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CA1 carbonic anhydrase 1 [ Homo sapiens (human) ]

Gene ID: 759, updated on 9-Dec-2018

Summary

Official Symbol
CA1provided by HGNC
Official Full Name
carbonic anhydrase 1provided by HGNC
Primary source
HGNC:HGNC:1368
See related
Ensembl:ENSG00000133742 MIM:114800
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

Genomic context

See CA1 in Genome Data Viewer
Location:
8q21.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (85328229..85378154, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (86240458..86290342, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375936 Neighboring gene uncharacterized LOC105375935 Neighboring gene carbonic anhydrase 13 Neighboring gene CA1 upstream erythroid promoter Neighboring gene CA3 antisense RNA 1 Neighboring gene carbonic anhydrase 3 Neighboring gene carbonic anhydrase 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    C-MYB transcription factor network, organism-specific biosystem
    C-MYB transcription factor network
  • Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystem (from REACTOME)
    Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystemCarbon dioxide (CO2) in plasma is hydrated to yield protons (H+) and bicarbonate (HCO3-) by carbonic anhydrase IV (CA4) located on the apical plasma membranes of endothelial cells. Plasma CO2 is also...
  • Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystem (from REACTOME)
    Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystemErythrocytes circulating through the capillaries of the lung must exchange carbon dioxide (CO2) for oxygen (O2) during their short (0.5-1 sec.) transit time in pulmonary tissue (Reviewed in Jensen 20...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, conserved biosystem (from KEGG)
    Nitrogen metabolism, conserved biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • O2/CO2 exchange in erythrocytes, organism-specific biosystem (from REACTOME)
    O2/CO2 exchange in erythrocytes, organism-specific biosystemIn capillaries of the lungs erythrocytes release carbon dioxide (CO2) and acquire oxygen (O2). In other tissues of the body the reverse reaction occurs (reviewed in Nikinmaa 1997, Jensen 2004).In the...
  • Reversible hydration of carbon dioxide, organism-specific biosystem (from REACTOME)
    Reversible hydration of carbon dioxide, organism-specific biosystemCarbonic anhydrases reversibly catalyze the hydration of carbon dioxide and directly produce bicarbonate and protons, bypassing the formation of carbonic acid (reviewed in Lindskog 1997, Breton 2001,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arylesterase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
carbonate dehydratase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
carbonate dehydratase activity TAS
Traceable Author Statement
more info
 
hydro-lyase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bicarbonate transport TAS
Traceable Author Statement
more info
 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
one-carbon metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
carbonic anhydrase 1
Names
carbonate dehydratase I
carbonic anhydrase B
carbonic anhydrase I
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)

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
    4960..54885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001128829.3NP_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)
    AI802646, BC027890, BU659301, BU663330
    Consensus CDS
    CCDS6237.1
    UniProtKB/Swiss-Prot
    P00915
    UniProtKB/TrEMBL
    V9HWE3
    Related
    ENSP00000392338.1, ENST00000431316.3
    Conserved Domains (1) summary
    cl00012
    Location:2261
    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_001128830.3NP_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)
    AI802646, BC027890, BU656154, BU663330
    Consensus CDS
    CCDS6237.1
    UniProtKB/Swiss-Prot
    P00915
    UniProtKB/TrEMBL
    V9HWE3
    Related
    ENSP00000443517.1, ENST00000542576.5
    Conserved Domains (1) summary
    cl00012
    Location:2261
    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_001128831.3NP_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)
    AI802646, BC027890, BU663330
    Consensus CDS
    CCDS6237.1
    UniProtKB/Swiss-Prot
    P00915
    UniProtKB/TrEMBL
    V9HWE3
    Related
    ENSP00000429798.1, ENST00000523022.5
    Conserved Domains (1) summary
    cl00012
    Location:2261
    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_001164830.1NP_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)
    AI802646, BC027890, BP261967
    Consensus CDS
    CCDS6237.1
    UniProtKB/Swiss-Prot
    P00915
    UniProtKB/TrEMBL
    V9HWE3
    Related
    ENSP00000430861.1, ENST00000517618.5
    Conserved Domains (1) summary
    cl00012
    Location:2261
    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_001291967.1NP_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)
    AI802646, BU661390, BU663330
    Related
    ENSP00000428923.1, ENST00000524324.5
    Conserved Domains (1) summary
    cl00012
    Location:9195
    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_001291968.1NP_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)
    AI802646, BU658617, BU663330
    Related
    ENSP00000430543.1, ENST00000519991.5
    Conserved Domains (1) summary
    cl00012
    Location:6148
    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_001738.4NP_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)
    AI802646, BC027890, BU663330, EU794595
    Consensus CDS
    CCDS6237.1
    UniProtKB/Swiss-Prot
    P00915
    UniProtKB/TrEMBL
    V9HWE3
    Related
    ENSP00000430656.1, ENST00000523953.5
    Conserved Domains (1) summary
    cl00012
    Location:2261
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    85328229..85378154 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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