1. Gene
  2. CA4 - carbonic anhydrase 4 Gene

CA4 - carbonic anhydrase 4 Gene

中文名称:碳酸酐酶 4

种属: Homo sapiens

同用名: CAIV; Car4; RP17

基因 ID: 762 | 基因类型: protein coding

关于 CA4

Cytogenetic location: 17q23.1 Genomic coordinates (GRCh38): 17:60,149,973-60,179,021 (from NCBI)

This gene has 6 transcripts (splice variants), 333 orthologues, 14 paralogues and is associated with 2 phenotypes. Biased expression in colon (RPKM 23.2), fat (RPKM 10.2) and 9 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。该基因编码糖基磷脂酰肌醇锚定膜同工酶,在肺 (和某些其他) 毛细血管和近端肾小管的管腔表面上表达。它的确切功能尚不清楚;然而,它可能在遗传性碳酸氢盐转运肾脏异常中起作用。[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. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]

CA4 基因产物(11)

mRNA Protein Name
NM_000717.5 NP_000708.1 carbonic anhydrase 4 preproprotein
NR_137422.2
XM_005257639.4 XP_005257696.1 carbonic anhydrase 4 isoform X1
XM_047436651.1 XP_047292607.1 carbonic anhydrase 4 isoform X1
XM_047436653.1 XP_047292609.1 carbonic anhydrase 4 isoform X2
XM_011525183.3 XP_011523485.1 carbonic anhydrase 4 isoform X3
XM_047436656.1 XP_047292612.1 carbonic anhydrase 4 isoform X2
XM_047436650.1 XP_047292606.1 carbonic anhydrase 4 isoform X1
XM_047436655.1 XP_047292611.1 carbonic anhydrase 4 isoform X2
XM_047436652.1 XP_047292608.1 carbonic anhydrase 4 isoform X1
XM_047436654.1 XP_047292610.1 carbonic anhydrase 4 isoform X2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
15563508 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bicarbonate transport IMP
IMP: 通过突变表型推断
15563508 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
17409381 GOA
located in apical plasma membrane IDA
IDA: 通过直接分析推断
17409381 GOA
NOT located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
17409381 GOA
located in brush border membrane IDA
IDA: 通过直接分析推断
17409381 GOA
located in cell surface IDA
IDA: 通过直接分析推断
15563508 GOA
located in endoplasmic reticulum-Golgi intermediate compartment IDA
IDA: 通过直接分析推断
17409381 GOA
located in external side of plasma membrane IDA
IDA: 通过直接分析推断
17409381 GOA
located in extracellular exosome IDA
IDA: 通过直接分析推断
15326289 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
17409381 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15563508 GOA
located in rough endoplasmic reticulum IDA
IDA: 通过直接分析推断
17409381 GOA
located in secretory granule membrane IDA
IDA: 通过直接分析推断
17409381 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
17409381 GOA
located in transport vesicle membrane IDA
IDA: 通过直接分析推断
17409381 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

CA4 蛋白结构

Carb_anhydrase

Carb_anhydrase: Eukaryotic-type carbonic anhydrase (23 - 284)

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

carbonic anhydrase 4

CA-IV

carbonate dehydratase IV

carbonic anhydrase IV

carbonic dehydratase IV

重组 CA4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7720 Carbonic Anhydrase 4 Protein, Human (His) P22748 (A19-K283) ≥95%
HY-P72862 Carbonic Anhydrase 4 Protein, Human (HEK293, His) P22748 (A19-K283) ≥95%

关联疾病

疾病名称 别名
Mild Cognitive Impairment
Pick Disease Of Brain

Pick Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Pick'S Disease

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

Dissociative Amnesia

Psychogenic Amnesia

Amnesia, Dissociative

Amnesia, Psychogenic

Amnesia Neurosis

Hysterical Fugue

Dissociative Fugue

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Focal Epilepsy

Partial Epilepsy

Epilepsies, Partial

Localisation-Related Epilepsy

Intraocular Pressure Quantitative Trait Locus

Glaucoma

IOPQTL

Glaucoma, Susceptibility To

Postinfectious Glaucoma

Glaucoma With Ocular Inflammation

Glaucoma Secondary To Eye Inflammation

Traumatic Glaucoma

Glaucoma With Concussion Of Globe

Glaucoma Due To Ocular Trauma

Glaucoma Associated With Ocular Trauma

Glaucoma Secondary To Drugs

Liver Rhabdomyosarcoma

Rhabdomyosarcoma Of Liver

Retinitis Pigmentosa 17

RP17

Retinitis Pigmentosa-17

Retinitis Pigmentosa, Type 17

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Atypical Autism

Pdd

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Multiple Personality Disorder

Dissociative Identity Disorder

Multiple Personality

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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

Dissociative Disorder

Dissociative Disorders

Dissociative Disease

Dissociative Reaction

Transient Global Amnesia

Amnesia, Transient Global

Anterograde Amnesia

Amnesia, Anterograde

Retrograde Amnesia

Amnesia, Retrograde

Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

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
Rattus norvegicus CA4 RGD RGD:2242
Canis familiaris CA4 VGNC VGNC:38612
Macaca mulatta CA4 VGNC VGNC:84877
Felis catus CA4 VGNC VGNC:60275
Bos taurus CA4 VGNC VGNC:26654
Mus musculus CA4 MGD MGI:1096574
Macaca fascicularis CA4 NCBI NCBI:102129007
Others CA4 NCBI