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    CA5A carbonic anhydrase 5A [ Homo sapiens (human) ]

    Gene ID: 763, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CA5Aprovided by HGNC
    Official Full Name
    carbonic anhydrase 5Aprovided by HGNC
    Primary source
    HGNC:HGNC:1377
    See related
    Ensembl:ENSG00000174990 MIM:114761; AllianceGenome:HGNC:1377
    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
    CA5; CAV; CAVA; CA5AD; GS1-21A4.1
    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. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward liver (RPKM 2.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See CA5A in Genome Data Viewer
    Location:
    16q24.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (87881549..87936529, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (93954203..94009111, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (87915155..87970135, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903753 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:87870283-87871482 Neighboring gene Sharpr-MPRA regulatory region 2373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87877095-87878022 Neighboring gene hESC enhancers GRCh37_chr16:87882980-87883886 and GRCh37_chr16:87883887-87884792 Neighboring gene solute carrier family 7 member 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87885699-87886604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87886605-87887512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87887513-87888418 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:87889541-87889729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87894111-87894868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87895627-87896384 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr16:87898083-87898663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11342 Neighboring gene microRNA 11401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7842 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:87903871-87905070 Neighboring gene CRISPRi-validated cis-regulatory element chr16.4806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87909600-87910127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87911269-87911910 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:87911911-87912552 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:87912553-87913192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87931441-87932140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11344 Neighboring gene small EDRK-rich factor 1-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87979603-87980148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11345 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:87984965-87985607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87990141-87991083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88000587-88001090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88008279-88008799 Neighboring gene BTG3 associated nuclear protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88016725-88017317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88033523-88034377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88034378-88035231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88039157-88039702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88039703-88040246 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:88042179-88042892 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:88042893-88043606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88046491-88047404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88047405-88048317 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:88058223-88058469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88060746-88061316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88064237-88064738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88069223-88069723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88078499-88079000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88096566-88097334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88098057-88098732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88099409-88100084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11349

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16. Nagao Y, et al. Proc Natl Acad Sci U S A, 1993 Aug 15. PMID 8356065, Free PMC Article
    2. Expression of carbonic anhydrase V in pancreatic beta cells suggests role for mitochondrial carbonic anhydrase in insulin secretion. Parkkila AK, et al. J Biol Chem, 1998 Sep 18. PMID 9733757
    3. Cell-specific expression of mitochondrial carbonic anhydrase in the human and rat gastrointestinal tract. Saarnio J, et al. J Histochem Cytochem, 1999 Apr. PMID 10082753
    4. Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. van Karnebeek CD, et al. Am J Hum Genet, 2014 Mar 6. PMID 24530203, Free PMC Article
    5. Carbonic Anhydrase VA Deficiency. Adam MP, et al. , 1993. PMID 25834911

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
      Title: Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
    2. In 10 of 96 patients, mutations in CA5A were identified on both alleles but none in CA5B. Exhibiting decreased enzyme activity or thermal stability, all CAVA mutations were proven to cause disease, whereas the three variants showed no relevant effect
      Title: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
    3. CA5A alterations cause hyperammonemia in early childhood that result in mitochondrial carbonic anhydrase VA deficiency
      Title: Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. activators enhanced kcat, with no effect on KM, favoring the RDS in the catalytic cycle; the activation pattern of the two mitochondrial isoforms is very different from each other and as compared to those of the cytosolic isoforms hCA I and II.
      Title: Carbonic anhydrase activators: an activation study of the human mitochondrial isoforms VA and VB with amino acids and amines.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat FITC-labeled Tat 47-59 peptide downregulates gene expression of carbonic anhydrase VA, mitochondrial (CA5A) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 carbonate dehydratase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    carbonic anhydrase 5A, mitochondrial
    Names
    CA-VA
    carbonate dehydratase VA
    carbonic anhydrase V, mitochondrial
    carbonic anhydrase VA, mitochondrial
    carbonic dehydratase
    NP_001354154.1
    NP_001730.1
    XP_005256191.1
    XP_047290550.1
    XP_047290551.1
    XP_054169825.1
    XP_054169826.1

    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.

    Genomic

    1. NG_033227.2 RefSeqGene

      Range
      5001..53517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1280

    mRNA and Protein(s)

    1. NM_001367225.1 → NP_001354154.1  carbonic anhydrase 5A, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' structure, resulting in a novel 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC127455, AC133539
      Consensus CDS
      CCDS92202.1
      UniProtKB/TrEMBL
      A0A3B3IRX9
      Related
      ENSP00000496993.1, ENST00000649158.1
      Conserved Domains (1) summary
      cl00012
      Location:61 → 258
      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 ...

    2. NM_001739.2 → NP_001730.1  carbonic anhydrase 5A, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001730.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC133539, BJ996241, L19297
      Consensus CDS
      CCDS10965.1
      UniProtKB/Swiss-Prot
      B2RPF2, P35218
      Related
      ENSP00000498065.2, ENST00000649794.3
      Conserved Domains (1) summary
      cd03118
      Location:61 → 296
      alpha_CA_V; Carbonic anhydrase alpha, CA isozyme V_like subgroup. 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_159798.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC127455, AC133539
      Related
      ENST00000648022.1

    2. NR_159799.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC127455, AC133539

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      87881549..87936529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434595.1 → XP_047290551.1  carbonic anhydrase 5A, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A3B3ITA6
      Related
      ENSP00000497626.1, ENST00000648177.1

    2. XM_047434594.1 → XP_047290550.1  carbonic anhydrase 5A, mitochondrial isoform X2

    3. XM_005256134.5 → XP_005256191.1  carbonic anhydrase 5A, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl00012
      Location:61 → 114
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      93954203..94009111 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313851.1 → XP_054169826.1  carbonic anhydrase 5A, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A3B3ITA6

    2. XM_054313850.1 → XP_054169825.1  carbonic anhydrase 5A, mitochondrial isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35218.1 GenPept UniProtKB/Swiss-Prot:P35218

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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