CYP2U1
entrez
113612
canonical
uniprot
Q7Z449
canonical
ensembl
ENSG00000155016
resolver
ensp
ENSP00000333212
resolver
ensp
ENSP00000578878
resolver
ensp
ENSP00000669911
resolver
genesymbol
CYP2U1
resolver
hgnc
HGNC:20582
resolver
uniprot
B2RMV7
resolver
uniprot
Q96EQ6
resolver
uniprot_entry
CP2U1_HUMAN
resolver
uniprot_sec
B2RMV7
resolver
uniprot_sec
Q96EQ6
resolver
amino_acid_sequence
MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVALLGWSWLRRRRARGIPPGPTPWPLVGNFGHVLLPPFLRRRSWLSSRTRAAGIDPSVIGPQVLLAHLARVYGSIFSFFIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVTKEKGVVFAHYGPVWRQQRKFSHSTLRHFGLGKLSLEPKIIEEFKYVKAEMQKHGEDPFCPFSIISNAVSNIICSLCFGQRFDYTNSEFKKMLGFMSRGLEICLNSQVLLVNICPWLYYLPFGPFKELRQIEKDITSFLKKIIKDHQESLDRENPQDFIDMYLLHMEEERKNNSNSSFDEEYLFYIIGDLFIAGTDTTTNSLLWCLLYMSLNPDVQEKVHEEIERVIGANRAPSLTDKAQMPYTEATIMEVQRLTVVVPLAIPHMTSENTVLQGYTIPKGTLILPNLWSVHRDPAIWEKPEDFYPNRFLDDQGQLIKKETFIPFGIGKRVCMGEQLAKMELFLMFVSLMQSFAFALPEDSKKPLLTGRFGLTLAPHPFNITISRR
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum (SPG56) [MIM:615030]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. In SPG56, upper limbs are often also affected. Some SPG56 patients may have a subclinical axonal neuropathy; others also have pseudoxanthoma elasticum. {ECO:0000269|PubMed:23176821}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.14.80
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of arachidonic acid and its conjugates (PubMed:14660610, PubMed:24563460). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:14660610, PubMed:24563460). Acts as an omega and omega-1 hydroxylase for arachidonic acid and possibly for other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes (PubMed:14660610, PubMed:24563460). May down-regulate the biological activities of N-arachidonoyl-serotonin, an endocannabinoid that has anti-nociceptive effects through inhibition of fatty acid amide hydrolase FAAH, TRPV1 receptor and T-type calcium channels. Catalyzes C-2 oxidation of the indole ring of N-arachidonoyl-serotonin forming a less active product 2-oxo-N-arachidonoyl-serotonin (PubMed:24563460). {ECO:0000269|PubMed:14660610, ECO:0000269|PubMed:24563460}.
uniprot
proteins
mass_dalton
61987
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; arachidonate metabolism. {ECO:0000305|PubMed:14660610, ECO:0000305|PubMed:24563460}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
14660610
uniprot
proteins
pubmed
14975754
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15752708
uniprot
proteins
pubmed
23176821
uniprot
proteins
pubmed
24563460
uniprot
proteins
sequence_length
544
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14660610}; Multi-pass membrane protein {ECO:0000255}. Microsome membrane {ECO:0000269|PubMed:14660610}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion inner membrane {ECO:0000269|PubMed:23176821}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 30..50; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 113..133; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 261..281; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 342..362; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 495..515; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins