Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Cytochrome P450 2U1

Gene

CYP2U1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

    Keywordsi

    Molecular functionMonooxygenase, Oxidoreductase
    LigandHeme, Iron, Metal-binding

    Enzyme and pathway databases

    ReactomeiR-HSA-211958 Miscellaneous substrates
    R-HSA-2142816 Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
    R-HSA-5579011 Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)
    SABIO-RKiQ7Z449

    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

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000155016.17
    HGNCiHGNC:20582 CYP2U1
    MIMi610670 gene
    neXtProtiNX_Q7Z449

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    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

    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 dbSNP:rs397514515EnsemblClinVar.1
    Natural variantiVAR_069576316D → V in SPG56. 1 PublicationCorresponds to variant dbSNP:rs397514513EnsemblClinVar.1
    Natural variantiVAR_069577380E → G in SPG56. 1 PublicationCorresponds to variant dbSNP:rs397514514EnsemblClinVar.1
    Natural variantiVAR_069578488R → W in SPG56. 1 PublicationCorresponds to variant dbSNP:rs141431913EnsemblClinVar.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
    HPA064827

    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
    GeneTreeiENSGT00900000140799
    HOGENOMiHOG000036991
    HOVERGENiHBG015789
    InParanoidiQ7Z449
    KOiK07422
    OMAiAPHPFNI
    OrthoDBiEOG091G0BT8
    PhylomeDBiQ7Z449
    TreeFamiTF352043

    Family and domain databases

    Gene3Di1.10.630.10, 1 hit
    InterProiView protein in InterPro
    IPR001128 Cyt_P450
    IPR017972 Cyt_P450_CS
    IPR002401 Cyt_P450_E_grp-I
    IPR008069 Cyt_P450_E_grp-I_CYP2D-like
    IPR036396 Cyt_P450_sf
    PfamiView protein in Pfam
    PF00067 p450, 1 hit
    PRINTSiPR00463 EP450I
    PR01686 EP450ICYP2D
    PR00385 P450
    SUPFAMiSSF48264 SSF48264, 1 hit
    PROSITEiView protein in PROSITE
    PS00086 CYTOCHROME_P450, 1 hit

    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 dbSNP:rs397514515EnsemblClinVar.1
    Natural variantiVAR_069576316D → V in SPG56. 1 PublicationCorresponds to variant dbSNP:rs397514513EnsemblClinVar.1
    Natural variantiVAR_069577380E → G in SPG56. 1 PublicationCorresponds to variant dbSNP:rs397514514EnsemblClinVar.1
    Natural variantiVAR_069578488R → W in SPG56. 1 PublicationCorresponds to variant dbSNP:rs141431913EnsemblClinVar.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

    Similar proteinsi

    Entry informationi

    Entry nameiCP2U1_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z449
    Secondary accession number(s): B2RMV7, Q96EQ6
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
    Last sequence update: October 1, 2003
    Last modified: May 23, 2018
    This is version 144 of the entry and version 1 of the sequence. See 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

    Cookie policy

    We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health