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    CA4 carbonic anhydrase 4 [ Homo sapiens (human) ]

    Gene ID: 762, updated on 7-May-2017
    Official Symbol
    CA4provided by HGNC
    Official Full Name
    carbonic anhydrase 4provided by HGNC
    Primary source
    HGNC:HGNC:1375
    See related
    Ensembl:ENSG00000167434 MIM:114760; Vega:OTTHUMG00000179987
    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
    CAIV; Car4; RP17
    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 gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17q23.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (60149941..60178118)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58227302..58236907)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 1 sigma 2 subunit pseudogene Neighboring gene uncharacterized LOC100996660 Neighboring gene family with sequence similarity 106 member D, pseudogene Neighboring gene ubiquitin specific peptidase 32 Neighboring gene small Cajal body-specific RNA 20 Neighboring gene ribosomal protein L32 pseudogene 32

    • 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?

    • Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystem (from REACTOME)
      Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystemCarbon dioxide (CO2) in plasma is hydrated to yield protons (H+) and bicarbonate (HCO3-) by carbonic anhydrase IV (CA4) located on the apical plasma membranes of endothelial cells. Plasma CO2 is also...
    • Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystem (from REACTOME)
      Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystemErythrocytes circulating through the capillaries of the lung must exchange carbon dioxide (CO2) for oxygen (O2) during their short (0.5-1 sec.) transit time in pulmonary tissue (Reviewed in Jensen 20...
    • 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...
    • O2/CO2 exchange in erythrocytes, organism-specific biosystem (from REACTOME)
      O2/CO2 exchange in erythrocytes, organism-specific biosystemIn capillaries of the lungs erythrocytes release carbon dioxide (CO2) and acquire oxygen (O2). In other tissues of the body the reverse reaction occurs (reviewed in Nikinmaa 1997, Jensen 2004).In the...
    • Proximal tubule bicarbonate reclamation, organism-specific biosystem (from KEGG)
      Proximal tubule bicarbonate reclamation, organism-specific biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
    • Proximal tubule bicarbonate reclamation, conserved biosystem (from KEGG)
      Proximal tubule bicarbonate reclamation, conserved biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
    • 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carbonate dehydratase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    bicarbonate transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    bicarbonate transport TAS
    Traceable Author Statement
    more info
     
    one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    anchored component of external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    brush border membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    rough endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    secretory granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transport vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    carbonic anhydrase 4
    Names
    CA-IV
    carbonate dehydratase IV
    carbonic anhydrase IV
    carbonic dehydratase IV
    NP_000708.1
    XP_005257696.1
    XP_011523485.1
    XP_016880501.1

    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_012050.2 RefSeqGene

      Range
      4996..14606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000717.4NP_000708.1  carbonic anhydrase 4 preproprotein

      See identical proteins and their annotated locations for NP_000708.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
      Source sequence(s)
      AI990988, BC057792, BC074768
      Consensus CDS
      CCDS11624.1
      UniProtKB/Swiss-Prot
      P22748
      Related
      ENSP00000300900.3, OTTHUMP00000263079, ENST00000300900.8, OTTHUMT00000449189
      Conserved Domains (1) summary
      cd03117
      Location:48283
      alpha_CA_IV_XV_like; Carbonic anhydrase alpha, CA_IV, CA_XV, like isozymes. 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 ...

    RNA

    1. NR_137422.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains several alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC025048

    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_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      60149941..60178118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257639.2XP_005257696.1  carbonic anhydrase 4 isoform X1

      See identical proteins and their annotated locations for XP_005257696.1

      Conserved Domains (1) summary
      cd03117
      Location:48307
      alpha_CA_IV_XV_like; Carbonic anhydrase alpha, CA_IV, CA_XV, like isozymes. 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 ...
    2. XM_011525183.2XP_011523485.1  carbonic anhydrase 4 isoform X2

      Conserved Domains (1) summary
      cl00012
      Location:1217
      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. XM_017025012.1XP_016880501.1  carbonic anhydrase 4 isoform X3

      UniProtKB/Swiss-Prot
      P22748
      Conserved Domains (1) summary
      cl00012
      Location:1193
      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 ...

    RNA

    1. XR_001752607.1 RNA Sequence

    2. XR_001752604.1 RNA Sequence

    3. XR_001752608.1 RNA Sequence

    4. XR_001752609.1 RNA Sequence

    5. XR_001752605.1 RNA Sequence

    6. XR_001752606.1 RNA Sequence

    7. XR_001752610.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      58291334..58300936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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