1. Gene
  2. CYP27A1 - cytochrome P450 family 27 subfamily A member 1 Gene

CYP27A1 - cytochrome P450 family 27 subfamily A member 1 Gene

中文名称:细胞色素 P450 家族 27 亚家族 A 成员 1

种属: Homo sapiens

同用名: CTX; CP27; CYP27

基因 ID: 1593 | 基因类型: protein coding

关于 CYP27A1

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:218,782,147-218,815,293 (from NCBI)

This gene has 5 transcripts (splice variants), 227 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 101.4), small intestine (RPKM 27.6) and 16 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。作为胆汁合成途径的一部分,这种线粒体蛋白氧化胆固醇中间体。由于将胆固醇转化为胆汁酸是从体内清除胆固醇的主要途径,因此这种蛋白质对于总体胆固醇稳态很重要。该基因的突变会导致脑腱黄瘤病,这是一种罕见的常染色体隐性脂质贮积病。[RefSeq 提供,2008 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 mitochondrial protein oxidizes Cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of Cholesterol to bile acids is the major route for removing Cholesterol from the body, this protein is important for overall Cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

CYP27A1 基因产物(1)

mRNA Protein Name
NM_000784.4 NP_000775.1 sterol 26-hydroxylase, mitochondrial precursor
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 cholestanetetraol 26-dehydrogenase activity IDA
IDA: 通过直接分析推断
11412116 GOA
enables cholesterol 26-hydroxylase activity IDA
IDA: 通过直接分析推断
9660774 GOA
enables heme binding IDA
IDA: 通过直接分析推断
9660774 GOA
enables vitamin D3 25-hydroxylase activity IDA
IDA: 通过直接分析推断
15465040 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
9660774 GOA
involved in calcitriol biosynthetic process from calciol IDA
IDA: 通过直接分析推断
15465040 GOA
involved in cholesterol catabolic process IDA
IDA: 通过直接分析推断
9660774 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

CYP27A1 蛋白结构

p450

p450: Cytochrome P450 (67 - 524)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 531 a.a.
蛋白主名 其他名称

sterol 26-hydroxylase, mitochondrial

5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase

CYP27A1 抗体

目录号 产品名 应用 反应物种
HY-P82418 Cytochrome P450 27A1 Antibody (YA2163) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Cerebrotendinous Xanthomatosis

CTX

Cerebral Cholesterinosis

Cholestanol Storage Disease

Xanthomatosis, Cerebrotendinous

Sterol 27-Hydroxylase Deficiency

Xanthomatosis Cerebrotendinous

Cerebrotendinous Cholesterinosis

Cholestanolosis

Van Bogaert-Scherer-Epstein Disease

Xanthomatosis

Xanthomatosis, Susceptibility To

Xanthelasmatosis

Lipid Storage Disease

Lipoidosis

Inborn Lipid Storage Disorder

Lipoid Storage Diseas

Lipid Storage Diseases

Lipidoses

Smith-Lemli-Opitz Syndrome

SLOS

Rsh Syndrome

7-Dehydrocholesterol Reductase Deficiency

Slo Syndrome

Rutledge Lethal Multiple Congenital Anomaly Syndrome

Lethal Acrodysgenital Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

Smith-Opitz-Inborn Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz Syndrome, Type Ii

Sitosterolemia

Phytosterolemia

Beta-Sitosterolemia

Plant Sterol Storage Disease

Phytosterolæmia

Sitosterolæmia

Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body

Phytosterolaemia

Sitosterolaemia

Sitosterolemia With Xanthomatosis

Rickets

Vitamin D Deficiency

Vitamin D

Active Rickets

Hypovitaminosis D

Nutritional Rickets

Vitamin D Deficiency Disease

Vitamin-D Deficiency Rickets

Vitamin D-Dependent Rickets

Avitaminosis D

Infantile Osteomalacia

Juvenile Osteomalacia

Cholestasis

Obstruction Of Bile Duct

Bile Duct Obstruction

Bile Occlusion

Extrahepatic Biliary Obstruction

Extrahepatic Bile Duct Obstruction

Bile Stasis

Biliary Stasis

Obstructive Hyperbilirubinemia

Obstructed Jaundice

Bile Duct Obstructed

Bile Ductal Obstruction

Biliary Duct Obstruction

Obstructed Bile Ductal

Obstructed Biliary Duct

Obstructed Biliary Ductal

Jaundice Regurgitation

Obstructive Jaundice

Cholestatic Jaundice

Cholestatic Jaundice Syndrome

Nasal Cavity Lymphoma

Lymphoma Of Nasal Cavity

Lymphoma Of The Nasal Cavity

Cholelithiasis
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Bile Acid Synthesis Defect, Congenital, 3

Congenital Bile Acid Synthesis Defect 3

CBAS3

Oxysterol 7-Alpha-Hydroxylase Deficiency

Congenital Bile Acid Synthesis Defect Type 3

Basd3

Bile Acid Synthesis Defect, Congenital, Type 3

Hard Palate Cancer

Malignant Neoplasm Of Hard Palate

Malignant Tumor Of Hard Palate

Malignant Tumour Of Hard Palate

Breast Leiomyosarcoma

Leiomyosarcoma Of The Breast

Intrahepatic Cholestasis Of Pregnancy

Recurrent Intrahepatic Cholestasis Of Pregnancy

Gravidic Intrahepatic Cholestasis

Pregnancy-Related Cholestasis

Icp

Pregnancy Related Cholestasis

Cholestasis, Intrahepatic Of Pregnancy

Familial Intrahepatic Cholestasis Of Pregnancy

Familial Recurrent Intrahepatic Cholestasis Of Pregnancy

Ricp

Obstetric Cholestasis

Nodular Tenosynovitis

Synovioma, Benign

Benign Synovioma

Benign Tumor Of Synovium

Localized Giant Cell Tumor Of Tenosynovium

Giant Cell Tumor Of Tendon Sheath

Parotid Gland Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of Parotid Gland

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

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 CYP27A1 VGNC VGNC:50342
Mus musculus CYP27A1 MGD MGI:88594
Rattus norvegicus CYP27A1 RGD RGD:727915
Bos taurus CYP27A1 VGNC VGNC:110244
Macaca mulatta CYP27A1 VGNC VGNC:103624
Felis catus CYP27A1 VGNC VGNC:103339