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Protein

Vitamin D 25-hydroxylase

Gene

CYP2R1

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

Functioni

Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D2 and D3.3 Publications

Catalytic activityi

Calciol + O2 + [reduced NADPH--hemoprotein reductase] = calcidiol + [oxidized NADPH--hemoprotein reductase] + H2O.3 Publications

Cofactori

hemeBy similarity

Kineticsi

  1. KM=0.67 µM for vitamin D22 Publications
  2. KM=0.45 µM for vitamin D32 Publications

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei250Substrate; via carbonyl oxygen1
    Metal bindingi448Iron (heme axial ligand)1

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

    Molecular functionMonooxygenase, Oxidoreductase
    LigandHeme, Iron, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS17721-MONOMER
    BRENDAi1.14.13.159 2681
    ReactomeiR-HSA-196791 Vitamin D (calciferol) metabolism
    R-HSA-211916 Vitamins
    R-HSA-5579027 Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
    SABIO-RKiQ6VVX0

    Chemistry databases

    SwissLipidsiSLP:000001264

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Vitamin D 25-hydroxylase (EC:1.14.14.243 Publications)
    Alternative name(s):
    Cytochrome P450 2R1
    Gene namesi
    Name:CYP2R1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 11

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000186104.10
    HGNCiHGNC:20580 CYP2R1
    MIMi608713 gene
    neXtProtiNX_Q6VVX0

    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

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Involvement in diseasei

    Rickets vitamin D-dependent 1B (VDDR1B)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D.
    See also OMIM:600081
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_02153499L → P in VDDR1B; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs61495246EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi120227
    MalaCardsiCYP2R1
    MIMi600081 phenotype
    OpenTargetsiENSG00000186104
    Orphaneti289157 Hypocalcemic vitamin D-dependent rickets
    PharmGKBiPA134986407

    Chemistry databases

    DrugBankiDB00169 Cholecalciferol
    DB00153 Ergocalciferol

    Polymorphism and mutation databases

    BioMutaiCYP2R1
    DMDMi62286619

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000517781 – 501Vitamin D 25-hydroxylaseAdd BLAST501

    Proteomic databases

    PaxDbiQ6VVX0
    PeptideAtlasiQ6VVX0
    PRIDEiQ6VVX0
    ProteomicsDBi67733

    PTM databases

    iPTMnetiQ6VVX0
    PhosphoSitePlusiQ6VVX0

    Expressioni

    Gene expression databases

    BgeeiENSG00000186104
    CleanExiHS_CYP2R1
    ExpressionAtlasiQ6VVX0 baseline and differential
    GenevisibleiQ6VVX0 HS

    Organism-specific databases

    HPAiHPA042949

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000334592

    Structurei

    Secondary structure

    1501
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Turni47 – 49Combined sources3
    Helixi52 – 57Combined sources6
    Helixi62 – 73Combined sources12
    Beta strandi75 – 81Combined sources7
    Beta strandi84 – 91Combined sources8
    Helixi92 – 99Combined sources8
    Turni100 – 106Combined sources7
    Helixi113 – 119Combined sources7
    Helixi131 – 146Combined sources16
    Turni147 – 150Combined sources4
    Helixi154 – 170Combined sources17
    Turni171 – 174Combined sources4
    Helixi180 – 196Combined sources17
    Helixi205 – 220Combined sources16
    Helixi224 – 231Combined sources8
    Helixi233 – 237Combined sources5
    Beta strandi239 – 241Combined sources3
    Helixi242 – 265Combined sources24
    Helixi276 – 286Combined sources11
    Turni287 – 289Combined sources3
    Helixi297 – 328Combined sources32
    Helixi330 – 343Combined sources14
    Beta strandi346 – 348Combined sources3
    Helixi352 – 357Combined sources6
    Helixi359 – 372Combined sources14
    Beta strandi387 – 389Combined sources3
    Beta strandi392 – 394Combined sources3
    Beta strandi399 – 403Combined sources5
    Helixi404 – 408Combined sources5
    Turni411 – 413Combined sources3
    Beta strandi414 – 416Combined sources3
    Helixi422 – 425Combined sources4
    Helixi451 – 468Combined sources18
    Beta strandi469 – 472Combined sources4
    Helixi474 – 476Combined sources3
    Beta strandi485 – 488Combined sources4
    Beta strandi496 – 500Combined sources5

    3D structure databases

    ProteinModelPortaliQ6VVX0
    SMRiQ6VVX0
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ6VVX0

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Phylogenomic databases

    eggNOGiKOG0156 Eukaryota
    COG2124 LUCA
    GeneTreeiENSGT00900000140799
    HOGENOMiHOG000036991
    HOVERGENiHBG015789
    InParanoidiQ6VVX0
    KOiK07419
    OMAiRFTYEDT
    OrthoDBiEOG091G0BT8
    PhylomeDBiQ6VVX0
    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
    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.

    Q6VVX0-1 [UniParc]FASTAAdd to basket

    « Hide

            10         20         30         40         50
    MWKLWRAEEG AAALGGALFL LLFALGVRQL LKQRRPMGFP PGPPGLPFIG
    60 70 80 90 100
    NIYSLAASSE LPHVYMRKQS QVYGEIFSLD LGGISTVVLN GYDVVKECLV
    110 120 130 140 150
    HQSEIFADRP CLPLFMKMTK MGGLLNSRYG RGWVDHRRLA VNSFRYFGYG
    160 170 180 190 200
    QKSFESKILE ETKFFNDAIE TYKGRPFDFK QLITNAVSNI TNLIIFGERF
    210 220 230 240 250
    TYEDTDFQHM IELFSENVEL AASASVFLYN AFPWIGILPF GKHQQLFRNA
    260 270 280 290 300
    AVVYDFLSRL IEKASVNRKP QLPQHFVDAY LDEMDQGKND PSSTFSKENL
    310 320 330 340 350
    IFSVGELIIA GTETTTNVLR WAILFMALYP NIQGQVQKEI DLIMGPNGKP
    360 370 380 390 400
    SWDDKCKMPY TEAVLHEVLR FCNIVPLGIF HATSEDAVVR GYSIPKGTTV
    410 420 430 440 450
    ITNLYSVHFD EKYWRDPEVF HPERFLDSSG YFAKKEALVP FSLGRRHCLG
    460 470 480 490 500
    EHLARMEMFL FFTALLQRFH LHFPHELVPD LKPRLGMTLQ PQPYLICAER

    R
    Length:501
    Mass (Da):57,359
    Last modified:July 5, 2004 - v1
    Checksum:iF05E5245C580C29E
    GO

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_02153499L → P in VDDR1B; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs61495246EnsemblClinVar.1
    Natural variantiVAR_075532242K → N Reduces 25-hydroxylase activity. 1 Publication1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AY323817 mRNA Translation: AAQ23114.1
    BC104907 mRNA Translation: AAI04908.1
    BC104909 mRNA Translation: AAI04910.1
    AY800276 Genomic DNA Translation: AAV65814.1
    CCDSiCCDS7818.1
    RefSeqiNP_078790.2, NM_024514.4
    UniGeneiHs.371427

    Genome annotation databases

    EnsembliENST00000334636; ENSP00000334592; ENSG00000186104
    GeneIDi120227
    KEGGihsa:120227
    UCSCiuc001mlr.4 human

    Similar proteinsi

    Entry informationi

    Entry nameiCP2R1_HUMAN
    AccessioniPrimary (citable) accession number: Q6VVX0
    Secondary accession number(s): Q2M3H3, Q5RT65
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
    Last sequence update: July 5, 2004
    Last modified: June 20, 2018
    This is version 137 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

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