CYP2U1 (cytochrome P450 family 2 subfamily U member 1)

2014-11-01  

Identity

HGNC
LOCATION
4q25
LOCUSID
ALIAS
P450TEC,SPG49,SPG56

Other Information

Locus ID:

NCBI: 113612
MIM: 610670
HGNC: 20582
Ensembl: ENSG00000155016

Variants:

dbSNP: 113612
ClinVar: 113612
TCGA: ENSG00000155016
COSMIC: CYP2U1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155016ENST00000332884Q7Z449
ENSG00000155016ENST00000508453E9PGH5

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Arachidonic acid metabolismKEGGko00590
Arachidonic acid metabolismKEGGhsa00590
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Arachidonic acid metabolismREACTOMER-HSA-2142753
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)REACTOMER-HSA-2142816
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Miscellaneous substratesREACTOMER-HSA-211958

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
217070712011Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels.85
146606102004CYP2U1, a novel human thymus- and brain-specific cytochrome P450, catalyzes omega- and (omega-1)-hydroxylation of fatty acids.36
243374092014Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.16
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
258725942015Expression of CYP2E1 and CYP2U1 proteins in amygdala and prefrontal cortex: influence of alcoholism and smoking.5
206307352010Genetic polymorphism of CYP2U1, a cytochrome P450 involved in fatty acids hydroxylation.4
206307352010Genetic polymorphism of CYP2U1, a cytochrome P450 involved in fatty acids hydroxylation.4
275530212016SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China.4
245634602014Oxidation of endogenous N-arachidonoylserotonin by human cytochrome P450 2U1.3
269149232016Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.2

Citation

Dessen P

CYP2U1 (cytochrome P450 family 2 subfamily U member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62255/cyp2u1