Homo sapiens Protein: CYP2U1 | |||||||||||||
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Summary | |||||||||||||
InnateDB Protein | IDBP-33400.6 | ||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||
Gene Symbol | CYP2U1 | ||||||||||||
Protein Name | cytochrome P450, family 2, subfamily U, polypeptide 1 | ||||||||||||
Synonyms | |||||||||||||
Species | Homo sapiens | ||||||||||||
Ensembl Protein | ENSP00000333212 | ||||||||||||
InnateDB Gene | IDBG-33398 (CYP2U1) | ||||||||||||
Protein Structure | |||||||||||||
UniProt Annotation | |||||||||||||
Function | Catalyzes 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:0000269PubMed:14660610}. | ||||||||||||
Subcellular Localization | Endoplasmic reticulum membrane {ECO:0000269PubMed:14660610}; Multi-pass membrane protein {ECO:0000269PubMed:14660610}. Microsome membrane {ECO:0000269PubMed:14660610}. | ||||||||||||
Disease Associations | Spastic 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:0000269PubMed:23176821}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||
Tissue Specificity | Widely expressed with stronger expression in thymus, heart and cerebellum. {ECO:0000269PubMed:14660610, ECO:0000269PubMed:14975754, ECO:0000269PubMed:15752708}. | ||||||||||||
Comments | |||||||||||||
Interactions | |||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||
PDB ID | |||||||||||||
InterPro |
IPR001128
Cytochrome P450 IPR002397 Cytochrome P450, B-class IPR002401 Cytochrome P450, E-class, group I IPR002403 Cytochrome P450, E-class, group IV IPR008069 Cytochrome P450, E-class, group I, CYP2D-like |
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PFAM |
PF00067
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PRINTS |
PR00385
PR00359 PR00463 PR00465 PR01686 |
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PIRSF | |||||||||||||
SMART | |||||||||||||
TIGRFAMs | |||||||||||||
Post-translational Modifications | |||||||||||||
Modification | |||||||||||||
Cross-References | |||||||||||||
SwissProt | Q7Z449 | ||||||||||||
PhosphoSite | PhosphoSite-Q7Z449 | ||||||||||||
TrEMBL | E9PGH5 | ||||||||||||
UniProt Splice Variant | |||||||||||||
Entrez Gene | 113612 | ||||||||||||
UniGene | Hs.629594 | ||||||||||||
RefSeq | NP_898898 | ||||||||||||
HUGO | HGNC:20582 | ||||||||||||
OMIM | 610670 | ||||||||||||
CCDS | CCDS34047 | ||||||||||||
HPRD | 13109 | ||||||||||||
IMGT | |||||||||||||
EMBL | AC096564 AC114733 AK298989 AY343323 BC012027 BC132767 BC136483 CH471057 | ||||||||||||
GenPept | AAH12027 AAI32768 AAI36484 AAQ21380 BAG61081 EAX06216 | ||||||||||||