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Protein

Cytochrome P450 27C1

Gene

CYP27C1

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

Functioni

Catalyzes the conversion of all-trans retinol (also called vitamin A1, the precursor of 11-cis retinal) to 3,4-didehydroretinol (also called vitamin A2, the precursor of 11-cis 3,4-didehydroretinal). Also acts on all-trans retinal and all-trans retinoic acid.1 Publication

Cofactori

hemeBy similarity

Kineticsi

  1. KM=0.5 µM for all-trans retinol1 Publication
  2. KM=0.35 µM for all-trans retinal1 Publication
  3. KM=0.87 µM for all-trans retinoic acid1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Metal bindingi318Iron (heme axial ligand)By similarity1

    GO - Molecular functioni

    • 11-cis-retinal 3,4-desaturase activity Source: UniProtKB
    • 11-cis retinal binding Source: UniProtKB
    • all-trans retinal 3,4-desaturase activity Source: UniProtKB
    • all-trans retinal binding Source: UniProtKB
    • all-trans retinoic acid 3,4-desaturase activity Source: UniProtKB
    • all-trans retinol 3,4-desaturase activity Source: UniProtKB
    • all-trans-retinol binding Source: UniProtKB
    • heme binding Source: InterPro
    • iron ion binding Source: InterPro
    • monooxygenase activity Source: UniProtKB-KW
    • retinoic acid binding Source: UniProtKB

    GO - Biological processi

    • retinal metabolic process Source: UniProtKB
    • retinoic acid metabolic process Source: UniProtKB
    • retinol metabolic process Source: UniProtKB

    Keywordsi

    Molecular functionMonooxygenase, Oxidoreductase
    LigandHeme, Iron, Metal-binding

    Chemistry databases

    SwissLipidsiSLP:000001617.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome P450 27C1 (EC:1.14.19.-1 Publication)
    Alternative name(s):
    All-trans retinol 3,4-desaturase1 Publication
    Gene namesi
    Name:CYP27C1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 2

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000186684.12.
    HGNCiHGNC:33480. CYP27C1.

    Subcellular locationi

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    OpenTargetsiENSG00000186684.
    PharmGKBiPA162383091.

    Polymorphism and mutation databases

    BioMutaiCYP27C1.
    DMDMi296434415.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00002937321 – 372Cytochrome P450 27C1Add BLAST372

    Proteomic databases

    PaxDbiQ4G0S4.
    PeptideAtlasiQ4G0S4.
    PRIDEiQ4G0S4.

    PTM databases

    iPTMnetiQ4G0S4.
    PhosphoSitePlusiQ4G0S4.

    Expressioni

    Tissue specificityi

    Widely expressed, with highest levels in the liver, kidney and pancreas.1 Publication

    Gene expression databases

    BgeeiENSG00000186684.
    CleanExiHS_CYP27C1.
    ExpressionAtlasiQ4G0S4. baseline and differential.
    GenevisibleiQ4G0S4. HS.

    Organism-specific databases

    HPAiHPA068731.

    Interactioni

    Protein-protein interaction databases

    BioGridi130927. 1 interactor.
    IntActiQ4G0S4. 1 interactor.
    STRINGi9606.ENSP00000334128.

    Structurei

    3D structure databases

    ProteinModelPortaliQ4G0S4.
    SMRiQ4G0S4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Phylogenomic databases

    eggNOGiKOG0159. Eukaryota.
    COG2124. LUCA.
    GeneTreeiENSGT00900000140779.
    HOGENOMiHOG000253961.
    HOVERGENiHBG106909.
    InParanoidiQ4G0S4.
    KOiK17951.
    OMAiALCHYAT.
    OrthoDBiEOG091G0MI3.
    PhylomeDBiQ4G0S4.
    TreeFamiTF105094.

    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.
    IPR036396. Cyt_P450_sf.
    PfamiView protein in Pfam
    PF00067. p450. 1 hit.
    PRINTSiPR00463. EP450I.
    PR00385. P450.
    SUPFAMiSSF48264. SSF48264. 1 hit.
    PROSITEiView protein in PROSITE
    PS00086. CYTOCHROME_P450. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q4G0S4-1 [UniParc]FASTAAdd to basket

    « Hide

            10         20         30         40         50
    MRSVLRQRIL KPKDVAIYSG EVNQVIADLI KRIYLLRSQA EDGETVTNVN
    60 70 80 90 100
    DLFFKYSMEG VATILYESRL GCLENSIPQL TVEYIEALEL MFSMFKTSMY
    110 120 130 140 150
    AGAIPRWLRP FIPKPWREFC RSWDGLFKFS QIHVDNKLRD IQYQMDRGRR
    160 170 180 190 200
    VSGGLLTYLF LSQALTLQEI YANVTEMLLA GVDTTSFTLS WTVYLLARHP
    210 220 230 240 250
    EVQQTVYREI VKNLGERHVP TAADVPKVPL VRALLKETLR LFPVLPGNGR
    260 270 280 290 300
    VTQEDLVIGG YLIPKGTQLA LCHYATSYQD ENFPRAKEFR PERWLRKGDL
    310 320 330 340 350
    DRVDNFGSIP FGHGVRSCIG RRIAELEIHL VVIQLLQHFE IKTSSQTNAV
    360 370
    HAKTHGLLTP GGPIHVRFVN RK
    Length:372
    Mass (Da):42,632
    Last modified:May 18, 2010 - v2
    Checksum:iF6274FE61FCA3A8C
    GO

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti195L → I in AAH39307 (PubMed:15815621).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_033120359T → M. Corresponds to variant dbSNP:rs35075135Ensembl.1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AK131190 mRNA. Translation: BAD18388.1.
    AC110926 Genomic DNA. No translation available.
    BC039307 mRNA. Translation: AAH39307.1.
    CCDSiCCDS33285.1.
    RefSeqiNP_001001665.3. NM_001001665.3.
    UniGeneiHs.407639.

    Genome annotation databases

    EnsembliENST00000335247; ENSP00000334128; ENSG00000186684.
    ENST00000409327; ENSP00000387198; ENSG00000186684.
    GeneIDi339761.
    KEGGihsa:339761.
    UCSCiuc002tod.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Similar proteinsi

    Entry informationi

    Entry nameiC27C1_HUMAN
    AccessioniPrimary (citable) accession number: Q4G0S4
    Secondary accession number(s): Q6ZNI7
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
    Last sequence update: May 18, 2010
    Last modified: October 25, 2017
    This is version 99 of the entry and version 2 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 2
      Human chromosome 2: 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. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    5. SIMILARITY comments
      Index of protein domains and families