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CYP2U1 Gene

protein-coding   GIFtS: 60
GCID: GC04P108852

Cytochrome P450, Family 2, Subfamily U, Polypeptide 1

  See CYP2U1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 2, Subfamily U, Polypeptide 11 2     P450TEC2
Spastic Paraplegia 491 2     SPG492
EC 1.14.14.13 8     Cytochrome P450 2U12
SPG562 5     

External Ids:    HGNC: 205821   Entrez Gene: 1136122   Ensembl: ENSG000001550167   OMIM: 6106705   UniProtKB: Q7Z4493   

Export aliases for CYP2U1 gene to outside databases

Previous GC identifers: GC04P109309 GC04P109210 GC04P109072 GC04P104584


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYP2U1 Gene:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are
monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids
and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other
long chain fatty acids. (provided by RefSeq, Jul 2008)

GeneCards Summary for CYP2U1 Gene:
CYP2U1 (cytochrome P450, family 2, subfamily U, polypeptide 1) is a protein-coding gene. Diseases associated with CYP2U1 include spastic paraplegia 56, autosomal recessive. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP2W1.

UniProtKB/Swiss-Prot: CP2U1_HUMAN, Q7Z449
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

Gene Wiki entry for CYP2U1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP2U1 gene promoter:
         AML1a   POU6F1 (c2)   AP-4   HNF-3beta   GATA-1   YY1   AREB6   POU2F1   HSF2   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP2U1 promoter sequence
   Search Chromatin IP Primers for CYP2U1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP2U1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q25   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q25

CYP2U1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP2U1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P108852:  view genomic region     (about GC identifiers)

Start:
108,852,525 bp from pter      End:
108,874,613 bp from pter
Size:
22,089 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CP2U1_HUMAN, Q7Z449 (See protein sequence)
Recommended Name: Cytochrome P450 2U1  
Size: 544 amino acids; 61987 Da
Cofactor: Heme group (By similarity)
Developmental stage: Expressed in fetal thymus
Secondary accessions: B2RMV7 Q96EQ6
Alternative splicing: 2 isoforms:  Q7Z449-1   Q7Z449-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP2U1: NX_Q7Z449

Explore proteomics data for CYP2U1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for CYP2U1 (Q7Z449)
     VSNIICS  EEIERVIG  NPQDFIDMYLLH  RAPSLTDKAQMPYTEATIMEVQRL 


    See CYP2U1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_898898.1  
    ENSEMBL proteins: 
     ENSP00000333212   ENSP00000423667  
    Reactome Protein details: Q7Z449

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP2U1
    CYP2 family

    4 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I
     IPR008069 Cyt_P450_E_grp-I_CYP2D-like

    Graphical View of Domain Structure for InterPro Entry Q7Z449

    ProtoNet protein and cluster: Q7Z449

    1 Blocks protein domain: IPB008069 CYP2D P450 family signature

    UniProtKB/Swiss-Prot: CP2U1_HUMAN, Q7Z449
    Similarity: Belongs to the cytochrome P450 family


    Find genes that share domains with CYP2U1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP2U1_HUMAN, Q7Z449
    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
    Catalytic activity: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O
    Biophysicochemical properties: Kinetic parameters: KM=2.7 uM for arachidonic acid;

         Enzyme Number (IUBMB): EC 1.14.14.11 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0016712oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen ----
    GO:0020037heme binding IEA--
    GO:0070330aromatase activity IEA--
         
    Find genes that share ontologies with CYP2U1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CYP2U1:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CYP2U1

    miRNA
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    miRTarBase miRNAs that target CYP2U1:
    hsa-mir-155-5p (MIRT020782), hsa-mir-19b-3p (MIRT031184), hsa-mir-124-3p (MIRT022645), hsa-mir-375 (MIRT019811)

    Block miRNA regulation of human, mouse, rat CYP2U1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYP2U1 (see all 17):
    hsa-miR-596 hsa-miR-607 hsa-miR-3135 hsa-miR-301a hsa-miR-1827 hsa-miR-4293 hsa-miR-130b hsa-miR-301b
    SwitchGear 3'UTR luciferase reporter plasmidCYP2U1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP2U1_HUMAN, Q7Z449: Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CYP2U1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP2U1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    cytochrome P4500.74
    Phase 1 - Functionalization of compounds0.75
    Miscellaneous substrates0.00
    2Arachidonic acid metabolism
    Arachidonic acid metabolism0.41
    Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)0.00
    Arachidonic acid metabolism0.40
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    5acetone degradation I (to methylglyoxal)
    bupropion degradation0.44
    nicotine degradation IV0.33
    acetone degradation I (to methylglyoxal)0.44
    nicotine degradation III0.00


    Find genes that share SuperPaths with CYP2U1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for CYP2U1 (see all 9)
        cytochrome P450
    nicotine degradation IV
    nicotine degradation III
    bupropion degradation
    melatonin degradation I

    2 Reactome Pathways for CYP2U1
        Miscellaneous substrates
    Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)


    2 Kegg Pathways  (Kegg details for CYP2U1):
        Arachidonic acid metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CYP2U1
    Interactions:

        Search GeneGlobe Interaction Network for CYP2U1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CYP2U1 (Q7Z4493 ENSP000003332124) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    AOX1ENSP000003638324STRING: ENSP00000363832
    CYP2B6ENSP000003246484STRING: ENSP00000324648
    CYP2C18ENSP000002859794STRING: ENSP00000285979
    CYP2C19ENSP000003603724STRING: ENSP00000360372
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008219cell death IEA--
    GO:0019369arachidonic acid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with CYP2U1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYP2U1 (CP2U1)

    10 HMDB Compounds for CYP2U1    About this table
    CompoundSynonyms CAS #PubMed Ids
    10-HETE10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2)167697-52-1--
    11beta-Hydroxytestosterone11beta,17beta-dihydroxyandrost-4-en-3-one 1816-85-9--
    13-HETE13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2)151910-72-4--
    17-HETE17-hydroxyeicosatetraenate (see all 3)----
    2beta-Hydroxytestosterone2beta,17beta-dihydroxyandrost-4-en-3-one 10390-14-4--
    5-Oxo-6-trans-leukotriene B45-oxo-6E-LTB(,4) (see all 3)----
    6,7-dihydro-12-epi-LTB46,7-dihydro-12-epi-leukotriene B(,4) (see all 4)----
    6,7-dihydro-5-oxo-12-epi-LTB46,7-dihydro-5-oxo-12-epi-leukotriene B(,4) (see all 4)----
    Docosahexaenoic acid4,7,10,13,16,19-Docosahexaenoate (see all 14)6217-54-5--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CYP2U1 gene: 
    NM_183075.2  

    Unigene Cluster for CYP2U1:

    Cytochrome P450, family 2, subfamily U, polypeptide 1
    Hs.109087  [show with all ESTs]
    Unigene Representative Sequence: NM_183075
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000332884(uc003hyp.3 uc011cfi.2) ENST00000513302 ENST00000508453

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    Additional mRNA sequence: 

    AK026498.1 AK290002.1 AK298989.1 AK303284.1 AK304724.1 AY343323.1 BC012027.1 BC132767.1 
    BC136483.1 BC144148.1 

    2 DOTS entries:

    DT.101978979  DT.91796282 

    Selected AceView cDNA sequences (see all 106):

    BU838483 AA730070 BM932043 AA905360 CD672608 N33755 BQ018912 AI952800 
    BX426199 BI966186 F09804 AW264067 AA768918 AA418010 BQ017879 N94925 
    AW889126 BG654708 AL691830 AA868720 AW183742 AA099864 AW027423 BX426022 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP2U1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTATTTGA
    CYP2U1 Expression
    About this image


    CYP2U1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
    CYP2U1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP2U1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.109087

    UniProtKB/Swiss-Prot: CP2U1_HUMAN, Q7Z449
    Tissue specificity: Widely expressed with stronger expression in thymus, heart and cerebellum

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2U1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYP2U1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp2u11 , 5 cytochrome P450, family 2, subfamily u, polypeptide more1, 5 79.81(n)1
    80.75(a)1
      3 (60.89 cM)5
    715191  NM_027816.31  NP_082092.21 
     1312904915 
    chicken
    (Gallus gallus)
    Aves LOC4225281 cytochrome P450 2U1-like 68.63(n)
    67.48(a)
      422528  XM_420491.4  XP_420491.3 
    lizard
    (Anolis carolinensis)
    Reptilia CYP2U16
    cytochrome P450, family 2, subfamily U, polypeptid...
    68(a)
    1 ↔ 1
    GL343384.1(340502-350537)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cyp2u11 cytochrome P450, family 2, subfamily U, polypeptide more 65.64(n)
    66.6(a)
      100127656  NM_001113000.1  NP_001106471.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cyp2u11 cytochrome P450, family 2, subfamily U, polypeptide more 60.22(n)
    59.47(a)
      556280  NM_001145564.1  NP_001139036.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp18a11 Cytochrome P450-18a1 47.28(n)
    37.55(a)
      32858  NM_078679.2  NP_523403.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G043301 AT5G04330 43.15(n)
    31.12(a)
      830312  NM_120515.2  NP_196053.2 


    ENSEMBL Gene Tree for CYP2U1 (if available)
    TreeFam Gene Tree for CYP2U1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP2U1 gene
    CYP2W12  CYP2C82  CYP2A62  CYP2F12  CYP2A72  CYP2B62  CYP2C192  CYP2R12  
    CYP2J22  CYP2S12  CYP2E12  CYP2C92  CYP2D62  CYP2C182  CYP2A132  
    Selected SIMAP similar genes for CYP2U1 using alignment to 2 protein entries:     CP2U1_HUMAN (see all proteins) (see all similar genes):
    CYP2G1P    CYP2R1    DKFZp686I24235    CYP2B6    CYP2S1    CYP2J2
    CYP2A7    CYP2D6    CYP2A13    CYP2A6    CYP2B    CYP2B7
    CYP2C9    CYP2E1    CYP 2C    CYP2A6V2    CYP2C19    CYP2C8

    Find genes that share paralogs with CYP2U1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYP2U1 (see all 515)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0695784
    Spastic paraplegia 56, autosomal recessive (SPG56)4--see VAR_0695782 R W mis40--------
    VAR_0695754
    Spastic paraplegia 56, autosomal recessive (SPG56)4--see VAR_0695752 C R mis40--------
    VAR_0695774
    Spastic paraplegia 56, autosomal recessive (SPG56)4--see VAR_0695772 E G mis40--------
    VAR_0695764
    Spastic paraplegia 56, autosomal recessive (SPG56)4--see VAR_0695762 D V mis40--------
    rs1914954261,2
    --108645958(+) AGAGCC/TCATCC 1 -- us2k10--------
    rs1461551501,2
    --108646050(+) GACTTC/TAACAT 1 -- us2k10--------
    rs1389951691,2
    C--108646057(+) ACATAG/TAGTGG 1 -- us2k10--------
    rs131249011,2
    C--108646231(+) TAAAAT/CCATTT 1 -- us2k16Minor allele frequency- C:0.21NA WA CSA 245
    rs68355031,2
    C,F,A,H--108646339(+) AGATCG/ATATCT 1 -- us2k118Minor allele frequency- A:0.18NS EA NA CSA WA 2222
    rs1415729301,2
    --108646451(+) GAGGTC/GTGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CYP2U1 (108852525 - 108874613 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CYP2U1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4457CNV Insertion18451855
    nsv461611CNV Loss19166990
    dgv5673n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CYP2U1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP2U1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP2U1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610670   
    OMIM disorders: 615030  
    UniProtKB/Swiss-Prot: CP2U1_HUMAN, Q7Z449
  • 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 characterized by the addition of such neurological features as spastic quadriparesis,
    seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and
    peripheral neuropathy, as well as by extra neurological manifestations such as dysmorphism, albinism, retinitis
    pigmentosa, deafness, dementia, amyotrophy and ichthyosis. In SPG56, upper limbs are often also affected. Some
    SPG56 patients may have a subclinical axonal neuropathy. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 1 disease for CYP2U1:    
    About MalaCards
    spastic paraplegia 56, autosomal recessive


    Find genes that share disorders with CYP2U1           About GenesLikeMe

    Genetic Association Database (GAD): CYP2U1
    Human Genome Epidemiology (HuGE) Navigator: CYP2U1 (2 documents)

    Export disorders for CYP2U1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYP2U1 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with CYP2U1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CYP2U1, a novel human thymus- and brain-specific cytochrome P450, catalyzes omega- and (omega-1)-hydroxylation of fatty acids. (PubMed id 14660610)1, 2, 3, 9 Chuang S.S.... Korczak B. (J. Biol. Chem. 2004)
    2. Characterization and tissue distribution of a novel human cytochrome P450-CYP2U1. (PubMed id 14975754)1, 2, 3 Karlgren M....Ingelman-Sundberg M. (Biochem. Biophys. Res. Commun. 2004)
    3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (Hum. Mol. Genet. 2010)
    4. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. (PubMed id 23176821)2 Tesson C....Stevanin G. (Am. J. Hum. Genet. 2012)
    5. Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels. (PubMed id 21707071)1 Shawahna R....Scherrmann J.M. (Mol. Pharm. 2011)
    6. Genetic polymorphism of CYP2U1, a cytochrome P450 involved in fatty acids hydroxylation. (PubMed id 20630735)1 Devos A....Cauffiez C. (Prostaglandins Leukot. Essent. Fatty Acids 2010)
    7. Genome-wide association with diabetes-related traits in the Framingham Heart Study. (PubMed id 17903298)4 Meigs J.B....Dupuis J. (BMC Med. Genet. 2007)
    8. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)
    9. Expression patterns of mouse and human CYP orthologs (families 1-4) during development and in different adult tissues. (PubMed id 15752708)2 Choudhary D.... Schenkman J.B. (Arch. Biochem. Biophys. 2005)
    10. 'Frankenstein genes', or the Mad Magazine version of the human pseudogenome. (PubMed id 15588491)1 Nelson D.R. (Hum. Genomics 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 113612 HGNC: 20582 AceView: CYP2U1 Ensembl:ENSG00000155016 euGenes: HUgn113612
    ECgene: CYP2U1 Kegg: 113612 H-InvDB: CYP2U1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CYP2U1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP2U1 gene:
    Search GeneIP for patents involving CYP2U1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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