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  2. CYP39A1 - cytochrome P450 family 39 subfamily A member 1 Gene

CYP39A1 - cytochrome P450 family 39 subfamily A member 1 Gene

中文名称:细胞色素 P450 家族 39 亚家族 A 成员 1

种属: Homo sapiens

基因 ID: 51302 | 基因类型: protein coding

关于 CYP39A1

Cytogenetic location: 6p12.3 Genomic coordinates (GRCh38): 6:46,549,580-46,652,818 (from NCBI)

This gene has 5 transcripts (splice variants), 153 orthologues and 2 paralogues. Broad expression in liver (RPKM 10.7), prostate (RPKM 4.4) and 14 other tissues.

功能概要

该基因编码细胞色素 P450 酶超家族的成员。细胞色素 P450 蛋白是单加氧酶,可催化许多涉及药物代谢和胆固醇、类固醇和其他脂质合成的反应。这种内质网蛋白参与胆固醇向胆汁酸的转化。其底物包括氧甾醇 25-羟基胆固醇、27-羟基胆固醇和 24-羟基胆固醇。交替剪接导致多个转录本变体。[RefSeq 提供,2013 年 7 月]

This gene encodes a member of the Cytochrome P450 superfamily of Enzymes. The Cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of Cholesterol, Steroids and Other lipids. This endoplasmic reticulum protein is involved in the conversion of Cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

CYP39A1 基因产物(3)

mRNA Protein Name
NM_001278738.2 NP_001265667.1 24-hydroxycholesterol 7-alpha-hydroxylase isoform 2
NM_001278739.2 NP_001265668.1 24-hydroxycholesterol 7-alpha-hydroxylase isoform 3
NM_016593.5 NP_057677.2 24-hydroxycholesterol 7-alpha-hydroxylase isoform 1
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 oxysterol 7-alpha-hydroxylase activity IDA
IDA: 通过直接分析推断
10748047 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bile acid biosynthetic process IDA
IDA: 通过直接分析推断
10748047 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

CYP39A1 蛋白结构

p450

p450: Cytochrome P450 (29 - 457)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 469 a.a.
蛋白主名 其他名称

24-hydroxycholesterol 7-alpha-hydroxylase

cytochrome P450, family 39, subfamily A, polypeptide 1

CYP39A1 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
CYP39A1 Q9NYL5 HERC3 Homo sapiens Q15034 33961781
种属内
CYP39A1 Q9NYL5 HERC3 Homo sapiens Q15034 28514442
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Exfoliation Syndrome

Pseudoexfoliation Glaucoma

Pseudoexfoliation Syndrome

Exfoliation Syndrome, Susceptibility To

XFS

Exfoliation Glaucoma

Xfg

Pseudoexfoliation Of The Lens

Pexg

Pexs

Exfoliative Syndrome

Glaucoma Capsulare

Pex

Pseudo-Exfoliation Syndrome

Cerebrotendinous Xanthomatosis

CTX

Cerebral Cholesterinosis

Cholestanol Storage Disease

Xanthomatosis, Cerebrotendinous

Sterol 27-Hydroxylase Deficiency

Xanthomatosis Cerebrotendinous

Cerebrotendinous Cholesterinosis

Cholestanolosis

Van Bogaert-Scherer-Epstein Disease

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

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 CYP39A1 MGD MGI:1927096
Felis catus CYP39A1 VGNC VGNC:103343
Rattus norvegicus CYP39A1 RGD RGD:1307471
Bos taurus CYP39A1 VGNC VGNC:110264
Canis familiaris CYP39A1 VGNC VGNC:50359