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Protein

Cytochrome P450 2U1

Gene

CYP2U1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

hemeBy 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

    GO - Biological processi

    Complete GO annotation...

    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).
    REACT_268326. Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56).
    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 Componenti: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:20582. CYP2U1.

    Subcellular locationi

    Topology

    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

    GO - Cellular componenti

    Complete GO annotation...

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 56, autosomal recessive (SPG56)1 Publication

    The disease is caused by mutations affecting the gene represented in this entry.

    Disease descriptionA 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.

    See also OMIM:615030
    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.

    Polymorphism and mutation databases

    BioMutaiCYP2U1.
    DMDMi74762432.

    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

    BgeeiQ7Z449.
    CleanExiHS_CYP2U1.
    ExpressionAtlasiQ7Z449. baseline and differential.
    GenevisibleiQ7Z449. HS.

    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...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2124.
    GeneTreeiENSGT00760000118775.
    HOGENOMiHOG000036991.
    HOVERGENiHBG015789.
    InParanoidiQ7Z449.
    KOiK07422.
    OMAiEDPFCPF.
    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. AlignAdd to basket

    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

            10         20         30         40         50
    MSSPGPSQPP AEDPPWPARL LRAPLGLLRL DPSGGALLLC GLVALLGWSW
    60 70 80 90 100
    LRRRRARGIP PGPTPWPLVG NFGHVLLPPF LRRRSWLSSR TRAAGIDPSV
    110 120 130 140 150
    IGPQVLLAHL ARVYGSIFSF FIGHYLVVVL SDFHSVREAL VQQAEVFSDR
    160 170 180 190 200
    PRVPLISIVT KEKGVVFAHY GPVWRQQRKF SHSTLRHFGL GKLSLEPKII
    210 220 230 240 250
    EEFKYVKAEM QKHGEDPFCP FSIISNAVSN IICSLCFGQR FDYTNSEFKK
    260 270 280 290 300
    MLGFMSRGLE ICLNSQVLLV NICPWLYYLP FGPFKELRQI EKDITSFLKK
    310 320 330 340 350
    IIKDHQESLD RENPQDFIDM YLLHMEEERK NNSNSSFDEE YLFYIIGDLF
    360 370 380 390 400
    IAGTDTTTNS LLWCLLYMSL NPDVQEKVHE EIERVIGANR APSLTDKAQM
    410 420 430 440 450
    PYTEATIMEV QRLTVVVPLA IPHMTSENTV LQGYTIPKGT LILPNLWSVH
    460 470 480 490 500
    RDPAIWEKPE DFYPNRFLDD QGQLIKKETF IPFGIGKRVC MGEQLAKMEL
    510 520 530 540
    FLMFVSLMQS FAFALPEDSK KPLLTGRFGL TLAPHPFNIT ISRR
    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:
    EMBLi
    GenBanki
    DDBJi
    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.
    GeneIDi113612.
    KEGGihsa:113612.
    UCSCiuc003hyp.3. human. [Q7Z449-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    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.

    3D structure databases

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

    Protein-protein interaction databases

    IntActiQ7Z449. 1 interaction.
    STRINGi9606.ENSP00000333212.

    PTM databases

    PhosphoSiteiQ7Z449.

    Polymorphism and mutation databases

    BioMutaiCYP2U1.
    DMDMi74762432.

    Proteomic databases

    MaxQBiQ7Z449.
    PaxDbiQ7Z449.
    PRIDEiQ7Z449.

    Protocols and materials databases

    DNASUi113612.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

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

    Organism-specific databases

    CTDi113612.
    GeneCardsiGC04P108852.
    H-InvDBHIX0024621.
    HGNCiHGNC:20582. CYP2U1.
    HPAiHPA041622.
    HPA046754.
    MIMi610670. gene.
    615030. phenotype.
    neXtProtiNX_Q7Z449.
    Orphaneti320411. Autosomal recessive spastic paraplegia type 56.
    PharmGKBiPA134924269.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiCOG2124.
    GeneTreeiENSGT00760000118775.
    HOGENOMiHOG000036991.
    HOVERGENiHBG015789.
    InParanoidiQ7Z449.
    KOiK07422.
    OMAiEDPFCPF.
    OrthoDBiEOG7RBZ85.
    PhylomeDBiQ7Z449.
    TreeFamiTF352043.

    Enzyme and pathway databases

    ReactomeiREACT_13425. Miscellaneous substrates.
    REACT_150134. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE).
    REACT_268326. Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56).
    SABIO-RKQ7Z449.

    Miscellaneous databases

    ChiTaRSiCYP2U1. human.
    GeneWikiiCYP2U1.
    GenomeRNAii113612.
    NextBioi78874.
    PROiQ7Z449.
    SOURCEiSearch...

    Gene expression databases

    BgeeiQ7Z449.
    CleanExiHS_CYP2U1.
    ExpressionAtlasiQ7Z449. baseline and differential.
    GenevisibleiQ7Z449. HS.

    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]
    ProtoNetiSearch...

    Publicationsi

    « Hide 'large scale' publications
    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: July 22, 2015
    This is version 120 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

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.