1. Gene
  2. CA5B - carbonic anhydrase 5B Gene

CA5B - carbonic anhydrase 5B Gene

中文名称:碳酸酐酶 5B

种属: Homo sapiens

同用名: CAVB; CA-VB

基因 ID: 11238 | 基因类型: protein coding

关于 CA5B

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:15,738,270-15,788,411 (from NCBI)

This gene has 10 transcripts (splice variants), 218 orthologues and 14 paralogues. Broad expression in testis (RPKM 4.8), ovary (RPKM 2.8) and 24 other tissues.

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。该基因编码碳酸酐酶 5B。 CA5B 和相关的 CA5A 基因的表达位于线粒体中,尽管 CA5B 的组织分布比 CA5A 更广,CA5A 仅限于肝脏、肾脏和骨骼肌。碳酸酐酶假基因 (CA5BP1) 与 CA5B 基因相邻,这两个位点产生 CA5BP1-CA5B 通读转录本。[RefSeq 提供,2019 年 1 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. This gene encodes Carbonic Anhydrase 5B. CA5B, and the related CA5A gene, has its expression localized in the mitochondria though CA5B has a wider tissue distribution than CA5A, which is restricted to the liver, kidneys, and skeletal muscle. A Carbonic Anhydrase pseudogene (CA5BP1) is adjacent to the CA5B gene and these two loci produce CA5BP1-CA5B readthrough transcripts. [provided by RefSeq, Jan 2019]

CA5B 基因产物(1)

mRNA Protein Name
NM_007220.4 NP_009151.1 carbonic anhydrase 5B, mitochondrial precursor

CA5B 蛋白结构

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (43 - 296)

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  • 317 a.a.
蛋白主名 其他名称

carbonic anhydrase 5B, mitochondrial

carbonate dehydratase VB

重组 CA5B 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7721 Carbonic Anhydrase 5B Protein, Human (His) Q9Y2D0 (C34-P317) ≥95%

关联疾病

疾病名称 别名
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

Intracranial Hypertension, Idiopathic

Pseudotumor Cerebri

Idiopathic Intracranial Hypertension

Benign Intracranial Hypertension

Iih

Benign Intracran. Hypt.

External Ear Disease

Diseases Of External Ear

Preauricular Cyst

Preauricular Sinus And Fistula

Preauricular Sinus Or Fistula

Enamel Erosion
Otitis Externa

Swimmer'S Ear

Infective Otitis Externa

Acute Infective Otitis Externa

Seborrheic Dermatitis

Seborrhoeic Dermatitis

Seborrhea

Seborrhoeic Eczema

Skin Seborrheic

Dermatitis, Seborrheic

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 CA5B MGD MGI:1926249
Macaca mulatta CA5B VGNC VGNC:70492
Canis familiaris CA5B VGNC VGNC:38613
Bos taurus CA5B VGNC VGNC:26655
Rattus norvegicus CA5B RGD RGD:1549783
Felis catus CA5B VGNC VGNC:60276
Others CA5B NCBI