U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 763, updated on 3-May-2025
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
NEW
Try the new Gene table
Try the new Transcript table
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 BRD4-independent group 4 enhancer GRCh37_chr16:87870283-87871482 Neighboring gene Sharpr-MPRA regulatory region 2373 Neighboring gene SLC7A5 antisense RNA 1 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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

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

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
more info
  
enables carbonate dehydratase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
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 NAS
Non-traceable Author Statement
more info
 PubMed 
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 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
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

NEW Try the new Transcript table

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.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous