MGP Database

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MGP006338

UniProt Annotations

Entry Information
Gene Namecytochrome P450, family 2, subfamily U, polypeptide 1
Protein EntryCP2U1_HUMAN
UniProt IDQ7Z449
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7Z449-1; Sequence=Displayed; Name=2; IsoId=Q7Z449-2; Sequence=VSP_026222, VSP_026223; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=2.7 uM for arachidonic acid;
Catalytic ActivityRH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O.
CofactorName=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250};
Developmental StageExpressed in fetal thymus. {ECO:0000269|PubMed:14660610, ECO:0000269|PubMed:15752708}.
DiseaseSpastic paraplegia 56, autosomal recessive (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. {ECO:0000269|PubMed:23176821}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes. {ECO:0000269|PubMed:14660610}.
SimilarityBelongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:14660610}; Multi-pass membrane protein {ECO:0000269|PubMed:14660610}. Microsome membrane {ECO:0000269|PubMed:14660610}.
Tissue SpecificityWidely expressed with stronger expression in thymus, heart and cerebellum. {ECO:0000269|PubMed:14660610, ECO:0000269|PubMed:14975754, ECO:0000269|PubMed:15752708}.
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