1. Gene
  2. CA5A - carbonic anhydrase 5A Gene

CA5A - carbonic anhydrase 5A Gene

中文名称:碳酸酐酶 5A

种属: Homo sapiens

同用名: CA5; CAV; CAVA; CA5AD; GS1-21A4.1

基因 ID: 763 | 基因类型: protein coding

关于 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).

功能概要

碳酸酐酶 (CA) 是一大类锌金属酶,可催化二氧化碳的可逆水合。它们参与多种生物过程,包括呼吸、钙化、酸碱平衡、骨吸收以及房水、脑脊液、唾液和胃酸的形成。它们在组织分布和亚细胞定位方面表现出广泛的多样性。 CA VA 位于线粒体中,主要在肝脏中表达。它可能在尿素生成和糖异生中发挥重要作用。 CA5A 基因映射到染色体 16q24.3,未加工的假基因已分配到 16p12-p11.2。[RefSeq 提供,2008 年 7 月]

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 基因产物(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

CA5A 蛋白结构

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (33 - 296)

  • 0
  • 100
  • 200
  • 305 a.a.
蛋白主名 其他名称

carbonic anhydrase 5A, mitochondrial

CA-VA

重组 CA5A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76753 CA5A Protein, Human (His-Met) P35218 (A40-S305) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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