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Protein

Cytochrome P450 27C1

Gene

CYP27C1

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

Catalytic activityi

All-trans-retinol + 2 reduced adrenodoxin + 2 H+ + O2 = all-trans-3,4-didehydroretinol + 2 oxidized adrenodoxin + 2 H2O.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

    GO - Biological processi

    Keywordsi

    Molecular functionMonooxygenase, Oxidoreductase
    LigandHeme, Iron, Metal-binding

    Chemistry databases

    SwissLipidsiSLP:000001617

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome P450 27C1 (EC:1.14.19.531 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
    neXtProtiNX_Q4G0S4

    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

    EPDiQ4G0S4
    PaxDbiQ4G0S4
    PeptideAtlasiQ4G0S4
    PRIDEiQ4G0S4
    ProteomicsDBi62124

    PTM databases

    iPTMnetiQ4G0S4
    PhosphoSitePlusiQ4G0S4

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiENSG00000186684 Expressed in 96 organ(s), highest expression level in tendon of biceps brachii
    CleanExiHS_CYP27C1
    ExpressionAtlasiQ4G0S4 baseline and differential
    GenevisibleiQ4G0S4 HS

    Organism-specific databases

    HPAiHPA062460
    HPA068731

    Interactioni

    Protein-protein interaction databases

    BioGridi130927, 2 interactors
    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

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    Seeing through the murk - Issue 192 of June 2017

    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

    3D structure databases

    ProteinModelPortaliQ4G0S4
    SMRiQ4G0S4
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi130927, 2 interactors
    IntActiQ4G0S4, 1 interactor
    STRINGi9606.ENSP00000334128

    Chemistry databases

    SwissLipidsiSLP:000001617

    PTM databases

    iPTMnetiQ4G0S4
    PhosphoSitePlusiQ4G0S4

    Polymorphism and mutation databases

    BioMutaiCYP27C1
    DMDMi296434415

    Proteomic databases

    EPDiQ4G0S4
    PaxDbiQ4G0S4
    PeptideAtlasiQ4G0S4
    PRIDEiQ4G0S4
    ProteomicsDBi62124

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

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

    Organism-specific databases

    CTDi339761
    EuPathDBiHostDB:ENSG00000186684.12
    GeneCardsiCYP27C1
    HGNCiHGNC:33480 CYP27C1
    HPAiHPA062460
    HPA068731
    neXtProtiNX_Q4G0S4
    OpenTargetsiENSG00000186684
    PharmGKBiPA162383091
    GenAtlasiSearch...

    Phylogenomic databases

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

    Miscellaneous databases

    ChiTaRSiCYP27C1 human
    GeneWikiiCYP27C1
    GenomeRNAii339761
    PROiPR:Q4G0S4

    Gene expression databases

    BgeeiENSG00000186684 Expressed in 96 organ(s), highest expression level in tendon of biceps brachii
    CleanExiHS_CYP27C1
    ExpressionAtlasiQ4G0S4 baseline and differential
    GenevisibleiQ4G0S4 HS

    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
    ProtoNetiSearch...

    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: September 12, 2018
    This is version 105 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. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

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