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Q7Z449

- CP2U1_HUMAN

UniProt

Q7Z449 - CP2U1_HUMAN

Protein

Cytochrome P450 2U1

Gene

CYP2U1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      Previous versions | rss
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    Functioni

    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.1 Publication

    Catalytic activityi

    RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O.

    Cofactori

    Heme group.By similarity

    Kineticsi

    1. KM=2.7 µM for arachidonic acid

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi490 – 4901Iron (heme axial ligand)By similarity

    GO - Molecular functioni

    1. aromatase activity Source: UniProtKB-EC
    2. heme binding Source: InterPro
    3. iron ion binding Source: InterPro

    GO - Biological processi

    1. arachidonic acid metabolic process Source: Reactome
    2. cell death Source: UniProtKB-KW
    3. omega-hydroxylase P450 pathway Source: Reactome
    4. small molecule metabolic process Source: Reactome
    5. xenobiotic metabolic process Source: Reactome

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Ligandi

    Heme, Iron, Metal-binding, NADP

    Enzyme and pathway databases

    ReactomeiREACT_13425. Miscellaneous substrates.
    REACT_150134. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE).
    SABIO-RKQ7Z449.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome P450 2U1 (EC:1.14.14.1)
    Gene namesi
    Name:CYP2U1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:20582. CYP2U1.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication. Microsome membrane 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti262 – 2621C → R in SPG56. 1 Publication
    VAR_069575
    Natural varianti316 – 3161D → V in SPG56. 1 Publication
    VAR_069576
    Natural varianti380 – 3801E → G in SPG56. 1 Publication
    VAR_069577
    Natural varianti488 – 4881R → W in SPG56. 1 Publication
    VAR_069578

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi615030. phenotype.
    Orphaneti320411. Autosomal recessive spastic paraplegia type 56.
    PharmGKBiPA134924269.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 544544Cytochrome P450 2U1PRO_0000291756Add
    BLAST

    Proteomic databases

    MaxQBiQ7Z449.
    PaxDbiQ7Z449.
    PRIDEiQ7Z449.

    PTM databases

    PhosphoSiteiQ7Z449.

    Expressioni

    Tissue specificityi

    Widely expressed with stronger expression in thymus, heart and cerebellum.3 Publications

    Developmental stagei

    Expressed in fetal thymus.2 Publications

    Gene expression databases

    ArrayExpressiQ7Z449.
    BgeeiQ7Z449.
    CleanExiHS_CYP2U1.
    GenevestigatoriQ7Z449.

    Organism-specific databases

    HPAiHPA041622.
    HPA046754.

    Interactioni

    Protein-protein interaction databases

    IntActiQ7Z449. 1 interaction.
    STRINGi9606.ENSP00000333212.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z449.
    SMRiQ7Z449. Positions 59-539.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei30 – 5021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei113 – 13321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei261 – 28121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei342 – 36221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei495 – 51521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2124.
    HOGENOMiHOG000036991.
    HOVERGENiHBG015789.
    InParanoidiQ7Z449.
    KOiK07422.
    OMAiNTGKVLQ.
    OrthoDBiEOG7RBZ85.
    PhylomeDBiQ7Z449.
    TreeFamiTF352043.

    Family and domain databases

    Gene3Di1.10.630.10. 1 hit.
    InterProiIPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002401. Cyt_P450_E_grp-I.
    IPR008069. Cyt_P450_E_grp-I_CYP2D-like.
    [Graphical view]
    PfamiPF00067. p450. 1 hit.
    [Graphical view]
    PRINTSiPR00463. EP450I.
    PR01686. EP450ICYP2D.
    PR00385. P450.
    SUPFAMiSSF48264. SSF48264. 1 hit.
    PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q7Z449-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSSPGPSQPP AEDPPWPARL LRAPLGLLRL DPSGGALLLC GLVALLGWSW    50
    LRRRRARGIP PGPTPWPLVG NFGHVLLPPF LRRRSWLSSR TRAAGIDPSV 100
    IGPQVLLAHL ARVYGSIFSF FIGHYLVVVL SDFHSVREAL VQQAEVFSDR 150
    PRVPLISIVT KEKGVVFAHY GPVWRQQRKF SHSTLRHFGL GKLSLEPKII 200
    EEFKYVKAEM QKHGEDPFCP FSIISNAVSN IICSLCFGQR FDYTNSEFKK 250
    MLGFMSRGLE ICLNSQVLLV NICPWLYYLP FGPFKELRQI EKDITSFLKK 300
    IIKDHQESLD RENPQDFIDM YLLHMEEERK NNSNSSFDEE YLFYIIGDLF 350
    IAGTDTTTNS LLWCLLYMSL NPDVQEKVHE EIERVIGANR APSLTDKAQM 400
    PYTEATIMEV QRLTVVVPLA IPHMTSENTV LQGYTIPKGT LILPNLWSVH 450
    RDPAIWEKPE DFYPNRFLDD QGQLIKKETF IPFGIGKRVC MGEQLAKMEL 500
    FLMFVSLMQS FAFALPEDSK KPLLTGRFGL TLAPHPFNIT ISRR 544
    Length:544
    Mass (Da):61,987
    Last modified:October 1, 2003 - v1
    Checksum:i01A0729318605770
    GO
    Isoform 2 (identifier: Q7Z449-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         164-168: GVVFA → ELFQE
         169-544: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:168
    Mass (Da):18,578
    Checksum:i1155F0747E11BAFC
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti262 – 2621C → R in SPG56. 1 Publication
    VAR_069575
    Natural varianti316 – 3161D → V in SPG56. 1 Publication
    VAR_069576
    Natural varianti380 – 3801E → G in SPG56. 1 Publication
    VAR_069577
    Natural varianti488 – 4881R → W in SPG56. 1 Publication
    VAR_069578

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei164 – 1685GVVFA → ELFQE in isoform 2. 1 PublicationVSP_026222
    Alternative sequencei169 – 544376Missing in isoform 2. 1 PublicationVSP_026223Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY343323 mRNA. Translation: AAQ21380.1.
    CH471057 Genomic DNA. Translation: EAX06216.1.
    BC012027 mRNA. Translation: AAH12027.1.
    BC132767 mRNA. Translation: AAI32768.1.
    BC136483 mRNA. Translation: AAI36484.1.
    CCDSiCCDS34047.1. [Q7Z449-1]
    RefSeqiNP_898898.1. NM_183075.2. [Q7Z449-1]
    UniGeneiHs.109087.

    Genome annotation databases

    EnsembliENST00000332884; ENSP00000333212; ENSG00000155016. [Q7Z449-1]
    GeneIDi113612.
    KEGGihsa:113612.
    UCSCiuc003hyp.3. human. [Q7Z449-1]

    Polymorphism databases

    DMDMi74762432.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY343323 mRNA. Translation: AAQ21380.1 .
    CH471057 Genomic DNA. Translation: EAX06216.1 .
    BC012027 mRNA. Translation: AAH12027.1 .
    BC132767 mRNA. Translation: AAI32768.1 .
    BC136483 mRNA. Translation: AAI36484.1 .
    CCDSi CCDS34047.1. [Q7Z449-1 ]
    RefSeqi NP_898898.1. NM_183075.2. [Q7Z449-1 ]
    UniGenei Hs.109087.

    3D structure databases

    ProteinModelPortali Q7Z449.
    SMRi Q7Z449. Positions 59-539.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q7Z449. 1 interaction.
    STRINGi 9606.ENSP00000333212.

    PTM databases

    PhosphoSitei Q7Z449.

    Polymorphism databases

    DMDMi 74762432.

    Proteomic databases

    MaxQBi Q7Z449.
    PaxDbi Q7Z449.
    PRIDEi Q7Z449.

    Protocols and materials databases

    DNASUi 113612.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000332884 ; ENSP00000333212 ; ENSG00000155016 . [Q7Z449-1 ]
    GeneIDi 113612.
    KEGGi hsa:113612.
    UCSCi uc003hyp.3. human. [Q7Z449-1 ]

    Organism-specific databases

    CTDi 113612.
    GeneCardsi GC04P108852.
    H-InvDB HIX0024621.
    HGNCi HGNC:20582. CYP2U1.
    HPAi HPA041622.
    HPA046754.
    MIMi 610670. gene.
    615030. phenotype.
    neXtProti NX_Q7Z449.
    Orphaneti 320411. Autosomal recessive spastic paraplegia type 56.
    PharmGKBi PA134924269.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000036991.
    HOVERGENi HBG015789.
    InParanoidi Q7Z449.
    KOi K07422.
    OMAi NTGKVLQ.
    OrthoDBi EOG7RBZ85.
    PhylomeDBi Q7Z449.
    TreeFami TF352043.

    Enzyme and pathway databases

    Reactomei REACT_13425. Miscellaneous substrates.
    REACT_150134. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE).
    SABIO-RK Q7Z449.

    Miscellaneous databases

    GeneWikii CYP2U1.
    GenomeRNAii 113612.
    NextBioi 78874.
    PROi Q7Z449.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z449.
    Bgeei Q7Z449.
    CleanExi HS_CYP2U1.
    Genevestigatori Q7Z449.

    Family and domain databases

    Gene3Di 1.10.630.10. 1 hit.
    InterProi IPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002401. Cyt_P450_E_grp-I.
    IPR008069. Cyt_P450_E_grp-I_CYP2D-like.
    [Graphical view ]
    Pfami PF00067. p450. 1 hit.
    [Graphical view ]
    PRINTSi PR00463. EP450I.
    PR01686. EP450ICYP2D.
    PR00385. P450.
    SUPFAMi SSF48264. SSF48264. 1 hit.
    PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "CYP2U1, a novel human thymus- and brain-specific cytochrome P450, catalyzes omega- and (omega-1)-hydroxylation of fatty acids."
      Chuang S.S., Helvig C., Taimi M., Ramshaw H.A., Collop A.H., Amad M., White J.A., Petkovich M., Jones G., Korczak B.
      J. Biol. Chem. 279:6305-6314(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
      Tissue: Thymus.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain and Mammary gland.
    4. "Characterization and tissue distribution of a novel human cytochrome P450-CYP2U1."
      Karlgren M., Backlund M., Johansson I., Oscarson M., Ingelman-Sundberg M.
      Biochem. Biophys. Res. Commun. 315:679-685(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    5. "Expression patterns of mouse and human CYP orthologs (families 1-4) during development and in different adult tissues."
      Choudhary D., Jansson I., Stoilov I., Sarfarazi M., Schenkman J.B.
      Arch. Biochem. Biophys. 436:50-61(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    6. Cited for: VARIANTS SPG56 ARG-262; VAL-316; GLY-380 AND TRP-488.

    Entry informationi

    Entry nameiCP2U1_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z449
    Secondary accession number(s): B2RMV7, Q96EQ6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 26, 2007
    Last sequence update: October 1, 2003
    Last modified: October 1, 2014
    This is version 112 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3