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CA5A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DMX, 1DMY, 1KEQ, 1URT
Identifiers
Aliases	CA5A, CA5, CA5AD, CAV, CAVA, GS1-21A4.1, carbonic anhydrase 5A
External IDs	OMIM: 114761; MGI: 101946; HomoloGene: 68200; GeneCards: CA5A; OMA:CA5A - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16q24.2 Start 87,881,546 bp End 87,936,580 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8 E1|8 70.81 cM Start 122,642,865 bp End 122,671,643 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver testicle islet of Langerhans hippocampus proper C1 segment substantia nigra prefrontal cortex putamen apex of heart Hypothalamus Top expressed in left lobe of liver proximal tubule right kidney embryo embryo perirhinal cortex CA3 field entorhinal cortex human kidney morula More reference expression data BioGPS n/a
Gene ontology Molecular function carbonate dehydratase activity zinc ion binding metal ion binding lyase activity carbonic anhydrase Cellular component mitochondrial matrix mitochondrion Biological process bicarbonate transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 763 12352 Ensembl ENSG00000174990 ENSMUSG00000025317 UniProt P35218 P23589 RefSeq (mRNA) NM_001739 NM_001367225 NM_007608 RefSeq (protein) NP_001730 NP_031634 Location (UCSC) Chr 16: 87.88 – 87.94 Mb Chr 8: 122.64 – 122.67 Mb PubMed search
Wikidata
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Carbonic anhydrase 5A, mitochondrial is a protein that in humans is encoded by the CA5A gene.

Function

Carbonic anhydrases (CAs) are a 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. CA5A 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. .

References

1. ^ GRCh38: Ensembl release 89: ENSG00000174990 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000025317 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Carbonic anhydrase 5A". Retrieved 2019-12-31.

Further reading

• Vullo D, Nishimori I, Innocenti A, Scozzafava A, Supuran CT (March 2007). "Carbonic anhydrase activators: an activation study of the human mitochondrial isoforms VA and VB with amino acids and amines". Bioorganic & Medicinal Chemistry Letters. 17 (5): 1336–40. doi:10.1016/j.bmcl.2006.11.075. PMID 17174092.
• Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, et al. (September 2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. Bibcode:2010PLoSO...512862H. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.
• van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, et al. (March 2014). "Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood". American Journal of Human Genetics. 94 (3): 453–61. doi:10.1016/j.ajhg.2014.01.006. PMC 3951944. PMID 24530203.

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