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CA5A - carbonic anhydrase 5A Gene

Also Known as CA5; CAV; CAVA; CA5AD; GS1-21A4.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 763

About CA5A

Cytogenetic location: 16q24.2 Genomic coordinates (GRCh38): 16:87,881,549-87,936,529 (from NCBI)

This gene has 6 transcripts (splice variants), 170 orthologues, 14 paralogues and is associated with 3 phenotypes. Restricted expression toward liver (RPKM 2.8).

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]

CA5A Products (2)

mRNA	Protein	Name
NM_001367225.1	NP_001354154.1	carbonic anhydrase 5A, mitochondrial isoform 2 precursor
NM_001739.2	NP_001730.1	carbonic anhydrase 5A, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables carbonate dehydratase activity	IDA IDA: Inferred from direct assay	8356065	GOA
enables carbonate dehydratase activity	IMP IMP: Inferred from mutant phenotype	24530203	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	8356065	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CA5A Protein Structure

Carb_anhydrase

0
100
200
305 a.a.

Protein Preferred Names	Protein Names
carbonic anhydrase 5A, mitochondrial	CA-VA

Recombinant CA5A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76753	CA5A Protein, Human (His)	P35218 (A40-S305)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	CA5AD Hyperammonemia Due To Carbonic Anhydrase Va Deficiency Hyperammonemia
Carbonic Anhydrase Va Deficiency	Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency Ca-Va Deficiency Hyperammonemia Due To Carbonic Anhydrase Va Deficiency Mitochondrial Carbonic Anhydrase Va Deficiency Ca5ad Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
N-Acetylglutamate Synthase Deficiency	Nags Deficiency N-Acetylglutamate Synthetase Deficiency Hyperammonemia, Type Iii Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency NAGSD Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency N-Acetyl Glutamate Synthetase Deficiency Nag Synthetase Deficiency Deficiency, N-Acetylglutamate Synthase
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Carbamoyl Phosphate Synthetase I Deficiency Cps I Deficiency Carbamoyl Phosphate Synthetase I Deficiency Disease Carbamoyl-Phosphate Synthase I Deficiency Disease Congenital Hyperammonemia, Type I Carbamoylphosphate Synthetase I Deficiency Carbamoyl Phosphate Synthetase 1 Deficiency CPS1D Carbamoyl Phosphate Synthetase Deficiency Cps 1 Deficiency Carbamyl Phosphate Synthetase Deficiency Hyperammonemia Due To Carbamoyl Phosphate Synthetase 1 Deficiency Carbamyl-Phosphate Synthetase I Deficiency Disease Carbamoyl-Phosphate Synthetase 1 Deficiency Cps1 Deficiency Carbamoyl-Phosphate Synthetase I Deficiency Carbamoyl-Phosphate Synthetase Deficiency Hyperammonemia Due To Carbamoyl Phosphate Synthetase I Deficiency Deficiency, Carbamoylphosphate Synthetase I Carbamylphosphate Synthetase Deficiency
Sulfonamide Allergy
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hhh Syndrome Ornithine Translocase Deficiency Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome HHHS Hhh Triple H Syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Ornithine Translocase Deficiency Syndrome Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome Ornt1 Deficiency Ornithine Carrier Deficiency Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome
Arthrogryposis, Distal, Type 4	Distal Arthrogryposis Type 4 DA4 Daiid Arthrogryposis-Severe Scoliosis Syndrome Distal Arthrogryposis Type Iid Arthrogryposis With Severe Scoliosis Arthrogryposis, Distal, Type Iid
Hyperlysinemia, Type I	Hyperlysinemia Lysine Intolerance Alpha-Aminoadipic Semialdehyde Synthase Deficiency Lysine:Alpha-Ketoglutarate Reductase Deficiency L-Lysine:Nad-Oxido-Reductase Deficiency Lysine Alpha-Ketoglutarate Reductase Deficiency Alpha-Aminoadipic Semialdehyde Deficiency Disease Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Saccharopinuria Hyperlysinemia Type I Hyperlysinemias L-Lysine Nad-Oxido-Reductase Deficiency Familial Hyperlysinemia Saccharopine Dehydrogenase Deficiency Disease Hyperlysinemia, 1 HYPLYS1 Saccharopine Dehydrogenase Deficiency
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01771	CA5A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CA5A	MGD	MGI:101946
Bos taurus	CA5A	VGNC	VGNC:50002
Canis familiaris	CA5A	VGNC	VGNC:53312
Rattus norvegicus	CA5A	RGD	RGD:2243
Macaca mulatta	CA5A	VGNC	VGNC:99493
Others	CA5A	NCBI