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    CA12 carbonic anhydrase 12 [ Homo sapiens (human) ]

    Gene ID: 771, updated on 6-Jun-2017
    Official Symbol
    CA12provided by HGNC
    Official Full Name
    carbonic anhydrase 12provided by HGNC
    Primary source
    HGNC:HGNC:1371
    See related
    Ensembl:ENSG00000074410 MIM:603263; Vega:OTTHUMG00000132881
    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]
    Orthologs
    Location:
    15q22.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC102723344 Neighboring gene ubiquitin specific peptidase 3 Neighboring gene USP3 antisense RNA 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • 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,...
    Products Interactant Other Gene Complex Source Pubs Description

    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 
    one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    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

    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_001218.4NP_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)
      AC087525, BC023981, DA509400, DA546357
      Consensus CDS
      CCDS10185.1
      UniProtKB/Swiss-Prot
      O43570
      Related
      ENSP00000178638.3, OTTHUMP00000163786, ENST00000178638.7, OTTHUMT00000256370
      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, OTTHUMP00000248074, ENST00000422263.2, OTTHUMT00000417754
      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, OTTHUMP00000163787, ENST00000344366.7, OTTHUMT00000256371
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      63732628..63793404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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