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FLASH GENE
Symbol CYP2U1 contributors: mct/shn - updated : 12-03-2013
HGNC name cytochrome P450, family 2, subfamily U, polypeptide 1
HGNC id 20582
Corresponding disease
SPG56 spastic paraplegia 56
Location 4q25      Physical location : 108.852.716 - 108.874.611
Synonym name
  • cytochrome P450 2U1
  • spastic paraplegia 49A
  • spastic paraplegia 56
    • Synonym symbol(s) P450TEC, SPG49A, SPG56
    EC.number 1.14.14.1
    DNA
    TYPE functioning gene
    STRUCTURE 21.89 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D4S1564 - D4S2917 - CYP2U1 - D4S3240 - D4S1571 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 4760 - 544 - 2004 14975754
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly Homo sapiensNM_183075
     heart   moderately Homo sapiensNM_183075
     heart   lowly Homo sapiensNM_183075
    Lymphoid/Immunethymus   highly Homo sapiensNM_183075
     thymus   predominantly Homo sapiensNM_183075
    Nervousbrain   moderately Homo sapiensmRNA
     brainhindbraincerebellum predominantly Homo sapiensNM_183075
    Respiratorylung   lowly Homo sapiensNM_183075
    Urinarykidney   lowly Homo sapiensNM_183075
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text thymus
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a cytochrome P450 functional domain
    • HOMOLOGY
    interspecies ortholog to Cyp2u1, Mus musculus
    ortholog to Cyp2u1, Rattus norvegicus
    ortholog to cyp2u1, Danio rerio
    intraspecies homolog to CYP2R1
    Homologene
    FAMILY P450 family 2
    CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text partially colocalized with endoplasmic reticulum and mitochondria
    basic FUNCTION
  • involved in an NADPH-dependent electron transport pathway
  • metabolizing long chain fatty and playing an important physiological role in fatty acid signaling processes in both cerebellum and thymus
  • may play an important role in modulating the arachidonic acid signaling pathway
  • plays an important physiological role in fatty acid signaling processes in both cerebellum and thymus
  • exhibits few genetic variations, supporting a probable role in endogenous processes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    text catalyzed the hydroxylation of structurally related long chain fatty acid (docosahexaenoic acid)
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG56
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS