1. Gene
  2. CA1 - carbonic anhydrase 1 Gene

CA1 - carbonic anhydrase 1 Gene

中文名称:碳酸酐酶 1

种属: Homo sapiens

同用名: CAB; CA-I; Car1; HEL-S-11

基因 ID: 759 | 基因类型: protein coding

关于 CA1

Cytogenetic location: 8q21.2 Genomic coordinates (GRCh38): 8:85,327,608-85,378,113 (from NCBI)

This gene has 25 transcripts (splice variants), 286 orthologues and 14 paralogues. Biased expression in bone marrow (RPKM 551.6) and colon (RPKM 322.2).

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 CA1 基因与 8 号染色体上的 CA2 和 CA3 基因密切相关。它编码一种在红细胞中发现的最高水平的胞质蛋白。该基因的等位变体已在某些人群中得到描述。可变剪接和替代启动子的使用会导致多种转录本变体。[RefSeq 提供,2016 年 11 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 CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]

CA1 基因产物(7)

mRNA Protein Name
NM_001128830.4 NP_001122302.1 carbonic anhydrase 1 isoform a
NM_001128829.4 NP_001122301.1 carbonic anhydrase 1 isoform a
NM_001738.5 NP_001729.1 carbonic anhydrase 1 isoform a
NM_001128831.4 NP_001122303.1 carbonic anhydrase 1 isoform a
NM_001164830.2 NP_001158302.1 carbonic anhydrase 1 isoform a
NM_001291968.2 NP_001278897.1 carbonic anhydrase 1 isoform c
NM_001291967.2 NP_001278896.1 carbonic anhydrase 1 isoform b
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables arylesterase activity IMP
IMP: 通过突变表型推断
7758465 GOA
enables carbonate dehydratase activity IDA
IDA: 通过直接分析推断
10550681 GOA
enables carbonate dehydratase activity IMP
IMP: 通过突变表型推断
7758465 GOA
enables cyanamide hydratase activity IDA
IDA: 通过直接分析推断
10550681 GOA
enables hydro-lyase activity IDA
IDA: 通过直接分析推断
2114290 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

CA1 蛋白结构

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (6 - 261)

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

carbonic anhydrase 1

carbonate dehydratase I

carbonic anhydrase B

carbonic anhydrase I

cyanamide hydratase CA1

epididymis secretory protein Li 11

epididymis secretory sperm binding protein

CA1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CA1 P00915 TFCP2 Homo sapiens Q12800
Validated Y2H
25910212
种属内
CA1 P00915 TFCP2 Homo sapiens Q12800
Y2H Bait-Prey Pool
25910212
种属内
CA1 P00915 TFCP2 Homo sapiens Q12800
Y2H Array
25910212
种属内
CA1 P00915 TFCP2 Homo sapiens Q12800
Validated Y2H
25416956
种属内
CA1 P00915 TFCP2 Homo sapiens Q12800
Y2H Prey Pooling
25416956
种属内
CA1 P00915 TFCP2 Homo sapiens Q12800
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CA1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7718 Carbonic Anhydrase 1 Protein, Human (His) P00915 (A2-F261) ≥95%

CA1 抗体

目录号 产品名 应用 反应物种
HY-P82237 Carbonic Anhydrase 1 Antibody (YA1982) WB, IHC-P, ICC/IF Human, Mouse, Rat, Zebrafish

关联疾病

疾病名称 别名
Cataract 3, Multiple Types

Cataract 3 Multiple Types

CTRCT3

Cca2

Cataract, Congenital, Cerulean Type, 2

Cataract 3, Multiple Types, With Or Without Microcornea

Cataract 3 Multiple Types With Or Without Microcornea

Congenital Cerulean Type Cataract 2

Congenital Cataract Blue Dot Type 2

Congenital Cataract Cerulean Type 2

Cspc

Sutural Cataract With Punctate And Cerulean Opacities

Alzheimer Disease 11

Ad11

Alzheimer'S Disease 11

Alzheimer Disease, Familial, 11

Alzheimer Disease-11

Alzheimer'S Disease 11, Late Onset

Intracranial Hypertension, Idiopathic

Pseudotumor Cerebri

Benign Intracranial Hypertension

Idiopathic 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

Swine Influenza

Influenza Due To Influenza A Virus Subtype H1n1

Transient Global Amnesia

Amnesia, Transient Global

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
Canis familiaris CA1 VGNC VGNC:38604
Felis catus CA1 VGNC VGNC:60239
Rattus norvegicus CA1 RGD RGD:1309780
Macaca mulatta CA1 VGNC VGNC:83986
Mus musculus CA1 MGD MGI:88268
Macaca fascicularis CA1 NCBI NCBI:102126955
Susscrofa domestica CA1 NCBI
Others CA1 NCBI