CYP2U1 - cytochrome P450 family 2 subfamily U member 1 Gene

Also Known as SPG49; SPG56; P450TEC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 113612

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_183075.3	NP_898898.1	cytochrome P450 2U1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables arachidonate omega-hydroxylase activity	IDA IDA: Inferred from direct assay	24563460	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in omega-hydroxylase P450 pathway	IDA IDA: Inferred from direct assay	24563460	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYP2U1 Protein Structure

p450

0
100
200
300
400
500
544 a.a.

Protein Preferred Names	Protein Names
cytochrome P450 2U1	cytochrome P450, family 2, subfamily U, polypeptide 1

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03468	CYP2U1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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