CA5A - carbonic anhydrase 5A Gene

Homo sapiens

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

Gene ID: 763 | Gene type: protein coding

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	Reference	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	Reference	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%

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

Bioactive Molecules (1)

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

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