CA3 carbonic anhydrase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CA3provided by HGNC
Official Full Name: carbonic anhydrase 3provided by HGNC
Primary source: HGNC:HGNC:1374
See related: Ensembl:ENSG00000164879 MIM:114750; AllianceGenome:HGNC:1374
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: Car3; CAIII
Summary: Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]
Expression: Biased expression in prostate (RPKM 78.7), fat (RPKM 38.8) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (85438859..85449040)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (85877589..85887769)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (86351088..86361269)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Carbonic anhydrase 2 and 3 as risk biomarkers for dilated cardiomyopathy associated heart failure.
Title: Carbonic anhydrase 2 and 3 as risk biomarkers for dilated cardiomyopathy associated heart failure.
Carbonic Anhydrase III Promotes Cell Migration and Epithelial-Mesenchymal Transition in Oral Squamous Cell Carcinoma.
Title: Carbonic Anhydrase III Promotes Cell Migration and Epithelial-Mesenchymal Transition in Oral Squamous Cell Carcinoma.
Carbonic anhydrase III is a new target of HIF1alpha in prostate cancer model.
Title: Carbonic anhydrase III is a new target of HIF1α in prostate cancer model.
these data clearly suggests that CAIII serves as an important antioxidant critical in protecting NP cells against oxidative stress-induced injury.
Title: Expression of Carbonic Anhydrase III, a Nucleus Pulposus Phenotypic Marker, is Hypoxia-responsive and Confers Protection from Oxidative Stress-induced Cell Death.
CAIII and Hsp70 expressions were higher in LPRD patients that in non-LPRD patients, suggesting the possibility as one of biomomarker in LPRD diagnosis.
Title: Expression of CAIII and Hsp70 Is Increased the Mucous Membrane of the Posterior Commissure in Laryngopharyngeal Reflux Disease.
this study detected the formation and colocalization of 6-nitrotryptophan-containing proteins and CAIII in the skin of atopic dermatitis patients, not only in the lesional part but also in the nonlesional part, through histochemical analyses
Title: Importance of tryptophan nitration of carbonic anhydrase III for the morbidity of atopic dermatitis.
Report that anti-CAIII antibodies may be useful for diagnosing microscopic polyangiitis.
Title: Anti-carbonic anhydrase III autoantibodies in vasculitis syndrome.
The carbonic anhydrase CA3 isoform displayed an increased abundance during muscle aging, which was independently verified by immunoblotting of differently aged human skeletal muscle samples.
Title: Mass spectrometry-based proteomic analysis of middle-aged vs. aged vastus lateralis reveals increased levels of carbonic anhydrase isoform 3 in senescent human skeletal muscle.
The generation of CA III and IV autoantibodies, antioxidant enzymes, and cytokines might influence each other.
Title: Carbonic anhydrases III and IV autoantibodies in rheumatoid arthritis, systemic lupus erythematosus, diabetes, hypertensive renal disease, and heart failure.
The level of CAIII is specifically insufficient in the skeletal muscle of myasthenia gravis patients.
Title: Carbonic anhydrase III is insufficient in muscles of myasthenia gravis patients.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

G54016 (e-PCR)
- UniSTS:109398

WI-16407 (e-PCR)
- UniSTS:59232

D8S1367E (e-PCR)
- UniSTS:151181

SHGC-35614 (e-PCR)
- UniSTS:51872

GDB:181594 (e-PCR)
- UniSTS:155301

G60292 (e-PCR)
- UniSTS:137397

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 nickel cation binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: carbonic anhydrase 3

Names: CA-III; HEL-S-167mP; carbonate dehydratase III; carbonic anhydrase III, muscle specific; carbonic anhydrase IIII; epididymis secretory sperm binding protein Li 167mP

NP_005172.1

EC 4.2.1.1

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.

mRNA and Protein(s)

NM_005181.4 → NP_005172.1 carbonic anhydrase 3

See identical proteins and their annotated locations for NP_005172.1

Status: REVIEWED

Source sequence(s)

AC084734, AK313254, DA421884

Consensus CDS

CCDS6238.1

UniProtKB/Swiss-Prot

B2R867, B3KUC8, O60842, P07451

UniProtKB/TrEMBL

B4DUJ8, V9HWA3

Related

ENSP00000285381.2, ENST00000285381.3

Conserved Domains (1) summary

cd03119
Location:1 → 259

alpha_CA_I_II_III_XIII; Carbonic anhydrase alpha, isozymes I, II, and III and XIII. 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 ...