1. Gene
  2. CYP2U1 - cytochrome P450 family 2 subfamily U member 1 Gene

CYP2U1 - cytochrome P450 family 2 subfamily U member 1 Gene

中文名称:细胞色素 P450 家族 2 亚家族 U 成员 1

种属: Homo sapiens

同用名: SPG49; SPG56; P450TEC

基因 ID: 113612 | 基因类型: protein coding

关于 CYP2U1

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:107,931,549-107,953,461 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 15 paralogues and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 5.8), ovary (RPKM 5.2) and 24 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。这种酶是一种羟化酶,可代谢花生四烯酸、二十二碳六烯酸和其他长链脂肪酸。[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 enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and Other long chain fatty acids. [provided by RefSeq, Jul 2008]

CYP2U1 基因产物(1)

mRNA Protein Name
NM_183075.3 NP_898898.1 cytochrome P450 2U1
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 arachidonate omega-hydroxylase activity IDA
IDA: 通过直接分析推断
24563460 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in omega-hydroxylase P450 pathway IDA
IDA: 通过直接分析推断
24563460 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

CYP2U1 蛋白结构

p450

p450: Cytochrome P450 (104 - 540)

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

cytochrome P450 2U1

cytochrome P450, family 2, subfamily U, polypeptide 1

关联疾病

疾病名称 别名
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum

Spastic Paraplegia 56, Autosomal Recessive

SPG56

Paraplegia, Spastic, Type 56, Autosomal Recessive

Hereditary Spastic Paraplegia 56

Autosomal Recessive Spastic Paraplegia Type 56

Spg56

Autosomal Recessive Spastic Paraplegia 56

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spastic Paraplegia 25, Autosomal Recessive

SPG25

Hereditary Spastic Paraplegia 25

Autosomal Recessive Spastic Paraplegia Type 25

Spastic Paraplegia 25

Disc Herniation With Spastic Paraplegia, Autosomal Recessive

Autosomal Recessive Spastic Paraplegia 25

Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia

Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome

Spastic Paraplegia 28, Autosomal Recessive

SPG28

Hereditary Spastic Paraplegia 28

Autosomal Recessive Spastic Paraplegia Type 28

Autosomal Recessive Spastic Paraplegia 28

Paraplegia, Spastic, Type 28, Autosomal Recessive

Spastic Paraplegia 54, Autosomal Recessive

SPG54

Hereditary Spastic Paraplegia 54

Autosomal Recessive Spastic Paraplegia Type 54

Autosomal Recessive Spastic Paraplegia 54

Paraplegia, Spastic, Type 54, Autosomal Recessive

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Axonal Neuropathy
Spastic Ataxia 5
Hereditary Spastic Paraplegia 49

Autosomal Recessive Spastic Paraplegia Type 49

Autosomal Recessive Spastic Paraplegia 49

Spg49

Paraplegia, Spastic, Type 49, Autosomal Recessive

Charcot-Marie-Tooth Disease, Axonal, Type 2h

CMT2H

Charcot-Marie-Tooth Disease Axonal Type 2h

Ar-Cmt2c

Autosomal Recessive Axonal Cmt4c2

Axonal Charcot-Marie-Tooth Disease With Pyramidal Involvement

Charcot-Marie-Tooth Disease Type 2h

Charcot-Marie-Tooth Disease, Axonal, With Pyramidal Features, Autosomal Recessive

Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Pyramidal Features

Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy With Pyramidal Features

Charcot-Marie-Tooth Disease, Type 2h

Pseudoxanthoma Elasticum

PXE

Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]

Spastic Paraplegia 55, Autosomal Recessive

SPG55

Hereditary Spastic Paraplegia 55

Autosomal Recessive Spastic Paraplegia Type 55

Autosomal Recessive Spastic Paraplegia 55

Paraplegia, Spastic, Autosomal Recessive, Type 55

Charcot-Marie-Tooth Disease Type 2a2a

Charcot-Marie-Tooth Disease, Type 2a2a

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2

Charcot-Marie-Tooth Neuronal Type 2a2

Charcot-Marie-Tooth Neuropathy Type 2a2

Cmt2a2a

Hereditary Motor And Sensory Neuropathy Iia2

Hmsn Iia2

Hmsn2a2

Spastic Paraplegia 79, Autosomal Recessive

Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome

SPG79

Neurodegeneration With Optic Atrophy, Childhood-Onset

Ndgoa

Hereditary Spastic Paraplegia 79

Spastic Paraplegia 79 Autosomal Recessive

Doid:0112344

Neurodegeneration, With Optic Atrophy, Childhood-Onset

Spastic Paraplegia 26, Autosomal Recessive

SPG26

Hereditary Spastic Paraplegia 26

Autosomal Recessive Spastic Paraplegia Type 26

Gm2 Synthase Deficiency

Spastic Paraplegia 26

Autosomal Recessive Spastic Paraplegia 26

Paraplegia, Spastic, Autosomal Recessive, Type 26

Charcot-Marie-Tooth Disease, Axonal, Type 2t

CMT2T

Charcot-Marie-Tooth Disease Axonal Type 2t

Charcot-Marie-Tooth Neuropathy, Type 2t

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t

Ar-Cmt2t

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t

Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2

Charcot-Marie-Tooth Neuropathy Type 2t

Charcot-Marie-Tooth Disease Type 2t

Mme-Related Autosomal Dominant Cmt2

Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Disease 2t

Charcot-Marie-Tooth Neuropathy Axonal Type 2t

Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

Spastic Paraplegia 2, X-Linked

SPG2

Hereditary Spastic Paraplegia 2

Sppx2

Spastic Paraplegia Type 2

Spastic Paraplegia 2

Hereditary X-Linked Recessive Spastic Paraplegia

X-Linked Spastic Paraplegia 2

X Linked Recessive Hereditary Spastic Paraplegia

Spastic Gait Type 2

Spastic Paraparesis Type 2

X-Linked Spastic Paraplegia Type 2

Spastic Paraplegia Type 2, X-Linked

Spastic Paraplegia-2

Paraplegia, Spastic, Type 2

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Spastic Ataxia

Spax

Ataxia, Spastic

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 CYP2U1 MGD MGI:1918769
Bos taurus CYP2U1 VGNC VGNC:110262
Rattus norvegicus CYP2U1 RGD RGD:1309433
Felis catus CYP2U1 VGNC VGNC:103320
Canis familiaris CYP2U1 VGNC VGNC:50357