1. Gene
  2. CA3 - carbonic anhydrase 3 Gene

CA3 - carbonic anhydrase 3 Gene

中文名称:碳酸酐酶 3

种属: Homo sapiens

同用名: Car3; CAIII

基因 ID: 761 | 基因类型: protein coding

关于 CA3

Cytogenetic location: 8q21.2 Genomic coordinates (GRCh38): 8:85,438,859-85,449,040 (from NCBI)

This gene has 3 transcripts (splice variants), 310 orthologues and 14 paralogues. Biased expression in prostate (RPKM 78.7), fat (RPKM 38.8) and 3 other tissues.

功能概要

碳酸酐酶 III (CAIII) 是编码碳酸酐酶同工酶的多基因家族成员 (已知至少有六个独立的基因) 。这些碳酸酐酶是一类金属酶,可催化二氧化碳的可逆水合,并在多种细胞类型中差异表达。 CA3 基因的表达具有严格的组织特异性,在骨骼肌中的表达水平很高,而在心肌和平滑肌中的表达水平要低得多。一部分杜氏肌营养不良症携带者的 CA3 水平高于正常水平。该基因跨越 10.3 kb,包含七个外显子和六个内含子。[RefSeq 提供,2008 年 10 月]

Carbonic Anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes Carbonic Anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]

CA3 基因产物(1)

mRNA Protein Name
NM_005181.4 NP_005172.1 carbonic anhydrase 3
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables carbonate dehydratase activity IDA
IDA: 通过直接分析推断
18618712 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cytosol IDA
IDA: 通过直接分析推断
18618712 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CA3 蛋白结构

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (5 - 259)

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

carbonic anhydrase 3

CA-III

重组 CA3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7719 Carbonic Anhydrase 3 Protein, Human (His) NP_005172.1 (A1-K260) ≥95%

关联疾病

疾病名称 别名
Acute Myocardial Infarction

Cardiac Attack

Heart Attack

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Intracranial Hypertension, Idiopathic

Pseudotumor Cerebri

Idiopathic Intracranial Hypertension

Benign Intracranial Hypertension

Iih

Benign Intracran. Hypt.

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis

Marble Brain Disease

OPTB3

Guibaud-Vainsel Syndrome

Carbonic Anhydrase Ii Deficiency

Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis

Autosomal Recessive Osteopetrosis 3

Carbonic Anhydrase 2 Deficiency

Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis

Osteopetrosis Autosomal Recessive 3

Autosomal Recessive Osteopetrosis Type 3

Guibaud Vainsel Syndrome

Mixed Rta

Mixed Renal Tubular Acidosis

Renal Tubular Acidosis Type 3

Carbonic Anhydrase Ii Deficiency Syndrome

Carbonic Anhydrase Ii Variant

Osteopetrosis, Autosomal Recessive, Type 3

Carbonic Anhydrase 2

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

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