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
361668722022Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations.1
364989432022Human Orphan Cytochrome P450 2U1 Catalyzes the ω-Hydroxylation of Leukotriene B(4).0
361668722022Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations.1
364989432022Human Orphan Cytochrome P450 2U1 Catalyzes the ω-Hydroxylation of Leukotriene B(4).0
345463372021Implication of folate deficiency in CYP2U1 loss of function.10
345463372021Implication of folate deficiency in CYP2U1 loss of function.10
320067402020Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.7
320067402020Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.7
312810852019Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.4
312810852019Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.4
290345442018CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.8
290345442018CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.8
274567662017Spectral and 3D model studies of the interaction of orphan human cytochrome P450 2U1 with substrates and ligands.5
280835962017Cytochrome P450 2U1, a very peculiar member of the human P450s family.11
287250252017An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.3

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/meetings/favicon/css/template-card.css