CA1 carbonic anhydrase 1 [Homo sapiens (human)] - Gene

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; 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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Carbonic anhydrase activity in the frontal lobe of human brain.
Title: Carbonic anhydrase activity in the frontal lobe of human brain.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH118415 (e-PCR)
- UniSTS:138028

SHGC-31642 (e-PCR)
- UniSTS:45969

CA1_3942 (e-PCR)
- UniSTS:462072

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 more info	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

EC 4.2.1.1

EC 4.2.1.69

NP_001122302.1

EC 4.2.1.1

EC 4.2.1.69

NP_001122303.1

EC 4.2.1.1

EC 4.2.1.69

NP_001158302.1

EC 4.2.1.1

EC 4.2.1.69

NP_001278896.1

EC 4.2.1.1

EC 4.2.1.69

NP_001278897.1

EC 4.2.1.1

EC 4.2.1.69

NP_001729.1

EC 4.2.1.1

EC 4.2.1.69

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

NG_016221.1 RefSeqGene

Range

5001..55506

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...