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CA12 carbonic anhydrase 12 [ Homo sapiens (human) ]

Gene ID: 771, updated on 6-Jan-2019

Summary

Official Symbol
CA12provided by HGNC
Official Full Name
carbonic anhydrase 12provided by HGNC
Primary source
HGNC:HGNC:1371
See related
Ensembl:ENSG00000074410 MIM:603263
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
CAXII; CA-XII; T18816; HsT18816
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. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]
Expression
Biased expression in kidney (RPKM 105.5), skin (RPKM 54.4) and 6 other tissues See more
Orthologs

Genomic context

See CA12 in Genome Data Viewer
Location:
15q22.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (63321378..63382166, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63615730..63674326, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RAB8B, member RAS oncogene family Neighboring gene aph-1 homolog B, gamma-secretase subunit Neighboring gene uncharacterized LOC105370858 Neighboring gene long intergenic non-protein coding RNA 2568 Neighboring gene ubiquitin specific peptidase 3 Neighboring gene USP3 antisense RNA 1

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of carbonic anhydrase XII (CA12) in peptide-treated PBMCs PubMed
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of carbonic anhydrase XII (CA12) in primary human brain microvascular endothelial cells PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human carbonic anhydrase XII (CA12) at amino acid residues 268-269 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

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

Homology

Clone Names

  • FLJ20151

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbonate dehydratase activity TAS
Traceable Author Statement
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bicarbonate transport TAS
Traceable Author Statement
more info
 
chloride ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
carbonic anhydrase 12
Names
carbonate dehydratase XII
carbonic anhydrase XII
carbonic dehydratase
tumor antigen HOM-RCC-3.1.3
NP_001209.1
NP_001280571.1
NP_996808.1

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_028022.2 RefSeqGene

    Range
    5057..63636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001218.5NP_001209.1  carbonic anhydrase 12 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001209.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC016207, AC087525, BC023981
    Consensus CDS
    CCDS10185.1
    UniProtKB/Swiss-Prot
    O43570
    Related
    ENSP00000178638.3, ENST00000178638.7
    Conserved Domains (1) summary
    cd03126
    Location:39289
    alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...
  2. NM_001293642.1NP_001280571.1  carbonic anhydrase 12 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001280571.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC087525, AK096845, DA509400, DA546357
    Consensus CDS
    CCDS76767.1
    UniProtKB/TrEMBL
    B3KUB4
    Related
    ENSP00000403028.2, ENST00000422263.2
    Conserved Domains (1) summary
    cl00012
    Location:36229
    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_206925.2NP_996808.1  carbonic anhydrase 12 isoform 2 precursor

    See identical proteins and their annotated locations for NP_996808.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC087525, BC011691, DA509400, DA546357
    Consensus CDS
    CCDS10186.1
    UniProtKB/Swiss-Prot
    O43570
    Related
    ENSP00000343088.3, ENST00000344366.7
    Conserved Domains (1) summary
    cd03126
    Location:39289
    alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...

RNA

  1. NR_135511.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016207, AC087525, BU630152

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_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    63321378..63382166 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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