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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 NADPH--hemoprotein reductase] + O2 = ROH + [oxidized NADPH--hemoprotein reductase] + H2O.

Cofactori

hemeBy similarity

Kineticsi

  1. KM=2.7 µM for arachidonic acid

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Metal bindingi490Iron (heme axial ligand)By similarity1

    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

    BioCyciZFISH:HS08023-MONOMER.
    ReactomeiR-HSA-211958. Miscellaneous substrates.
    R-HSA-2142816. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE).
    SABIO-RKQ7Z449.

    Chemistry databases

    SwissLipidsiSLP:000001048.

    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
    Proteomesi
    • UP000005640 Componenti: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:20582. CYP2U1.

    Subcellular locationi

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transmembranei30 – 50HelicalSequence analysisAdd BLAST21
    Transmembranei113 – 133HelicalSequence analysisAdd BLAST21
    Transmembranei261 – 281HelicalSequence analysisAdd BLAST21
    Transmembranei342 – 362HelicalSequence analysisAdd BLAST21
    Transmembranei495 – 515HelicalSequence analysisAdd BLAST21

    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)DescriptionActionsGraphical viewLength
    Natural variantiVAR_069575262C → R in SPG56. 1 PublicationCorresponds to variant rs397514515dbSNPEnsembl.1
    Natural variantiVAR_069576316D → V in SPG56. 1 PublicationCorresponds to variant rs397514513dbSNPEnsembl.1
    Natural variantiVAR_069577380E → G in SPG56. 1 PublicationCorresponds to variant rs397514514dbSNPEnsembl.1
    Natural variantiVAR_069578488R → W in SPG56. 1 PublicationCorresponds to variant rs141431913dbSNPEnsembl.1

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    DisGeNETi113612.
    MalaCardsiCYP2U1.
    MIMi615030. phenotype.
    OpenTargetsiENSG00000155016.
    Orphaneti320411. Autosomal recessive spastic paraplegia type 56.
    PharmGKBiPA134924269.

    Polymorphism and mutation databases

    BioMutaiCYP2U1.
    DMDMi74762432.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00002917561 – 544Cytochrome P450 2U1Add BLAST544

    Proteomic databases

    EPDiQ7Z449.
    MaxQBiQ7Z449.
    PaxDbiQ7Z449.
    PeptideAtlasiQ7Z449.
    PRIDEiQ7Z449.

    PTM databases

    iPTMnetiQ7Z449.
    PhosphoSitePlusiQ7Z449.

    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

    BgeeiENSG00000155016.
    CleanExiHS_CYP2U1.
    ExpressionAtlasiQ7Z449. baseline and differential.
    GenevisibleiQ7Z449. HS.

    Organism-specific databases

    HPAiHPA041622.
    HPA046754.

    Interactioni

    Protein-protein interaction databases

    IntActiQ7Z449. 1 interactor.
    STRINGi9606.ENSP00000333212.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z449.
    SMRiQ7Z449.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG0156. Eukaryota.
    COG2124. LUCA.
    GeneTreeiENSGT00760000118775.
    HOGENOMiHOG000036991.
    HOVERGENiHBG015789.
    InParanoidiQ7Z449.
    KOiK07422.
    OMAiEDPFCPF.
    OrthoDBiEOG091G0BT8.
    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)DescriptionActionsGraphical viewLength
    Natural variantiVAR_069575262C → R in SPG56. 1 PublicationCorresponds to variant rs397514515dbSNPEnsembl.1
    Natural variantiVAR_069576316D → V in SPG56. 1 PublicationCorresponds to variant rs397514513dbSNPEnsembl.1
    Natural variantiVAR_069577380E → G in SPG56. 1 PublicationCorresponds to variant rs397514514dbSNPEnsembl.1
    Natural variantiVAR_069578488R → W in SPG56. 1 PublicationCorresponds to variant rs141431913dbSNPEnsembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_026222164 – 168GVVFA → ELFQE in isoform 2. 1 Publication5
    Alternative sequenceiVSP_026223169 – 544Missing in isoform 2. 1 PublicationAdd BLAST376

    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. [Q7Z449-1]
    GeneIDi113612.
    KEGGihsa:113612.
    UCSCiuc003hyp.4. 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.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    IntActiQ7Z449. 1 interactor.
    STRINGi9606.ENSP00000333212.

    Chemistry databases

    SwissLipidsiSLP:000001048.

    PTM databases

    iPTMnetiQ7Z449.
    PhosphoSitePlusiQ7Z449.

    Polymorphism and mutation databases

    BioMutaiCYP2U1.
    DMDMi74762432.

    Proteomic databases

    EPDiQ7Z449.
    MaxQBiQ7Z449.
    PaxDbiQ7Z449.
    PeptideAtlasiQ7Z449.
    PRIDEiQ7Z449.

    Protocols and materials databases

    DNASUi113612.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000332884; ENSP00000333212; ENSG00000155016. [Q7Z449-1]
    GeneIDi113612.
    KEGGihsa:113612.
    UCSCiuc003hyp.4. human. [Q7Z449-1]

    Organism-specific databases

    CTDi113612.
    DisGeNETi113612.
    GeneCardsiCYP2U1.
    H-InvDBHIX0024621.
    HGNCiHGNC:20582. CYP2U1.
    HPAiHPA041622.
    HPA046754.
    MalaCardsiCYP2U1.
    MIMi610670. gene.
    615030. phenotype.
    neXtProtiNX_Q7Z449.
    OpenTargetsiENSG00000155016.
    Orphaneti320411. Autosomal recessive spastic paraplegia type 56.
    PharmGKBiPA134924269.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0156. Eukaryota.
    COG2124. LUCA.
    GeneTreeiENSGT00760000118775.
    HOGENOMiHOG000036991.
    HOVERGENiHBG015789.
    InParanoidiQ7Z449.
    KOiK07422.
    OMAiEDPFCPF.
    OrthoDBiEOG091G0BT8.
    PhylomeDBiQ7Z449.
    TreeFamiTF352043.

    Enzyme and pathway databases

    BioCyciZFISH:HS08023-MONOMER.
    ReactomeiR-HSA-211958. Miscellaneous substrates.
    R-HSA-2142816. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE).
    SABIO-RKQ7Z449.

    Miscellaneous databases

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

    Gene expression databases

    BgeeiENSG00000155016.
    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...

    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: November 30, 2016
    This is version 133 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

    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 one 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.