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CA3 carbonic anhydrase 3 [ Homo sapiens (human) ]

Gene ID: 761, updated on 15-Jun-2019

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
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

Genomic context

See CA3 in Genome Data Viewer
Location:
8q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (85438827..85449040)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (86351056..86361269)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375935 Neighboring gene carbonic anhydrase 13 Neighboring gene carbonic anhydrase 1 Neighboring gene CA1 upstream erythroid promoter Neighboring gene CA3 antisense RNA 1 Neighboring gene uncharacterized LOC105375937 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

  • 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...
  • 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

Potential readthrough

Included gene: CA13

Homology

Clone Names

  • FLJ36434

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbonate dehydratase activity IEA
Inferred from Electronic Annotation
more info
 
nickel cation binding IEA
Inferred from Electronic Annotation
more info
 
phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bicarbonate transport TAS
Traceable Author Statement
more info
 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_005181.4NP_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
    P07451
    UniProtKB/TrEMBL
    V9HWA3
    Related
    ENSP00000285381.2, ENST00000285381.3
    Conserved Domains (1) summary
    cd03119
    Location:1259
    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 ...

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.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    85438859..85449040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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