1. Gene
  2. CH25H - cholesterol 25-hydroxylase Gene

CH25H - cholesterol 25-hydroxylase Gene

中文名称:胆固醇 25-羟化酶

种属: Homo sapiens

同用名: C25H

基因 ID: 9023 | 基因类型: protein coding

关于 CH25H

Cytogenetic location: 10q23.31 Genomic coordinates (GRCh38): 10:89,205,629-89,207,317 (from NCBI)

This gene has 1 transcript (splice variant), 210 orthologues and 3 paralogues.

功能概要

这是一个参与胆固醇和脂质代谢的无内含子基因。编码的蛋白质是一种膜蛋白,包含催化活性所必需的组氨酸残基簇。与大多数其他甾醇羟化酶不同,该酶是利用二铁辅助因子催化疏水底物羟基化的酶小家族的成员。[RefSeq 提供,2008 年 7 月]

This is an intronless gene that is involved in Cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this Enzyme is a member of a small family of Enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008]

CH25H 基因产物(1)

mRNA Protein Name
NM_003956.4 NP_003947.1 cholesterol 25-hydroxylase
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cholesterol 25-hydroxylase activity IDA
IDA: 通过直接分析推断
32944968 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol metabolic process IDA
IDA: 通过直接分析推断
33239446 GOA
involved in negative regulation of fusion of virus membrane with host plasma membrane IDA
IDA: 通过直接分析推断
32944968 GOA
involved in response to type I interferon IDA
IDA: 通过直接分析推断
33239446 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

CH25H 蛋白结构

FA_hydroxylase

FA_hydroxylase: Fatty acid hydroxylase superfamily (129 - 244)

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

cholesterol 25-hydroxylase

cholesterol 25-monooxygenase

关联疾病

疾病名称 别名
Lysosomal Acid Lipase Deficiency

Wolman Disease

Cholesteryl Ester Storage Disease

Lal Deficiency

Lipa Deficiency

Cholesterol Ester Storage Disease

CESD

Cholesterol Ester Hydrolase Deficiency

Acid Lipase Deficiency

Acid Esterase Deficiency

Familial Xanthomatosis

Wolman Xanthomatosis

Wolman'S Disease

Wolman'S Or Triglyceride Storage Type Iii Disease

Xanthomatosis, Familial

Liposomal Acid Lipase Deficiency, Wolman Type

Familial Visceral Xanthomatosis

Primary Familial Xanthomatosis

Primary Familial Xanthomatosis With Adrenal Calcification

Acid Lipase Disease

WOD

Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Lysosomal And Lipase Deficiency
Cerebrotendinous Xanthomatosis

CTX

Cerebral Cholesterinosis

Cholestanol Storage Disease

Xanthomatosis, Cerebrotendinous

Sterol 27-Hydroxylase Deficiency

Xanthomatosis Cerebrotendinous

Cerebrotendinous Cholesterinosis

Cholestanolosis

Van Bogaert-Scherer-Epstein Disease

Cholesterol Ester Storage Disease
Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

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
Macaca mulatta CH25H VGNC VGNC:106022
Rattus norvegicus CH25H RGD RGD:1310575
Mus musculus CH25H MGD MGI:1333869
Canis familiaris CH25H VGNC VGNC:52926
Bos taurus CH25H VGNC VGNC:27261