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

Gene ID: 763, updated on 3-Apr-2024

Summary

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
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Genomic context

See CA5A in Genome Data Viewer
Location:
16q24.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (87881549..87936529, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (93954203..94009111, complement)
105.20220307 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

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 Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
Process Evidence Code Pubs
involved_in one-carbon metabolic process IBA
Inferred from Biological aspect of Ancestor
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
 
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

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_001367225.1NP_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:61258
    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_001739.2NP_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:61296
    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_2023_10

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_047434595.1XP_047290551.1  carbonic anhydrase 5A, mitochondrial isoform X3

    Related
    ENSP00000497626.1, ENST00000648177.1
  2. XM_047434594.1XP_047290550.1  carbonic anhydrase 5A, mitochondrial isoform X2

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

    Conserved Domains (1) summary
    cl00012
    Location:61114
    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_054313851.1XP_054169826.1  carbonic anhydrase 5A, mitochondrial isoform X3

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