CYP2U1 (cytochrome P450 family 2 subfamily U member 1)

2014-11-01  

Identity

HGNC
CYP2U1
LOCATION
4q25
LOCUSID
113612
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/teaching-explorer/css/gene-explorer/