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    CYP2R1 cytochrome P450 family 2 subfamily R member 1 [ Homo sapiens (human) ]

    Gene ID: 120227, updated on 29-Jul-2018

    Summary

    Official Symbol
    CYP2R1provided by HGNC
    Official Full Name
    cytochrome P450 family 2 subfamily R member 1provided by HGNC
    Primary source
    HGNC:HGNC:20580
    See related
    Ensembl:ENSG00000186104 MIM:608713; Vega:OTTHUMG00000165900
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in skin (RPKM 2.2), testis (RPKM 2.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See CYP2R1 in Genome Data Viewer
    Location:
    11p15.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (14878005..14898915, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (14899551..14913874, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 3B Neighboring gene mortality factor 4 like 1 pseudogene 3 Neighboring gene uncharacterized LOC107984315 Neighboring gene uncharacterized LOC107984314 Neighboring gene calcitonin pseudogene Neighboring gene calcitonin related polypeptide alpha

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Vitamin d hydroxylation-deficient rickets, type 1b
    MedGen: C1838657 OMIM: 600081 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
    NHGRI GWA Catalog
    Genome-wide association study of circulating vitamin D levels.
    NHGRI GWA Catalog
    Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
    NHGRI GWA Catalog

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Clone Names

    • MGC4663

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    calcitriol biosynthetic process from calciol IEA
    Inferred from Electronic Annotation
    more info
     
    exogenous drug catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    organic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxidation-reduction process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    response to cesium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    vitamin D metabolic process TAS
    Traceable Author Statement
    more info
     
    vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    xenobiotic metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    organelle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    vitamin D 25-hydroxylase
    Names
    cytochrome P450 2R1
    cytochrome P450, family 2, R1
    cytochrome P450, family 2, subfamily R, polypeptide 1
    NP_078790.2
    XP_005252845.1
    XP_005252846.1
    XP_011518197.1
    XP_011518200.1
    XP_016872679.1
    XP_016872680.1
    XP_016872681.1
    XP_016872682.1
    XP_016872683.1
    XP_024304113.1
    XP_024304114.1
    XP_024304115.1
    XP_024304116.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007936.1 RefSeqGene

      Range
      5001..19197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024514.4NP_078790.2  vitamin D 25-hydroxylase

      See identical proteins and their annotated locations for NP_078790.2

      Status: REVIEWED

      Source sequence(s)
      AW138676, AY323817
      Consensus CDS
      CCDS7818.1
      UniProtKB/Swiss-Prot
      Q6VVX0
      Related
      ENSP00000334592.5, OTTHUMP00000231476, ENST00000334636.9, OTTHUMT00000386985
      Conserved Domains (1) summary
      pfam00067
      Location:57497
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      14878005..14898915 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519898.3XP_011518200.1  vitamin D 25-hydroxylase isoform X4

      See identical proteins and their annotated locations for XP_011518200.1

      Conserved Domains (1) summary
      pfam00067
      Location:2382
      p450; Cytochrome P450
    2. XM_017017193.2XP_016872682.1  vitamin D 25-hydroxylase isoform X4

      Conserved Domains (1) summary
      pfam00067
      Location:2382
      p450; Cytochrome P450
    3. XM_017017192.2XP_016872681.1  vitamin D 25-hydroxylase isoform X4

      Conserved Domains (1) summary
      pfam00067
      Location:2382
      p450; Cytochrome P450
    4. XM_017017191.2XP_016872680.1  vitamin D 25-hydroxylase isoform X4

      Conserved Domains (1) summary
      pfam00067
      Location:2382
      p450; Cytochrome P450
    5. XM_011519895.2XP_011518197.1  vitamin D 25-hydroxylase isoform X4

      See identical proteins and their annotated locations for XP_011518197.1

      Conserved Domains (1) summary
      pfam00067
      Location:2382
      p450; Cytochrome P450
    6. XM_024448346.1XP_024304114.1  vitamin D 25-hydroxylase isoform X4

      Conserved Domains (1) summary
      pfam00067
      Location:2382
      p450; Cytochrome P450
    7. XM_024448348.1XP_024304116.1  vitamin D 25-hydroxylase isoform X4

      Conserved Domains (1) summary
      pfam00067
      Location:2382
      p450; Cytochrome P450
    8. XM_024448345.1XP_024304113.1  vitamin D 25-hydroxylase isoform X3

      Conserved Domains (1) summary
      pfam00067
      Location:18442
      p450; Cytochrome P450
    9. XM_017017194.2XP_016872683.1  vitamin D 25-hydroxylase isoform X4

      Conserved Domains (1) summary
      pfam00067
      Location:2382
      p450; Cytochrome P450
    10. XM_005252789.3XP_005252846.1  vitamin D 25-hydroxylase isoform X2

      Conserved Domains (1) summary
      pfam00067
      Location:21443
      p450; Cytochrome P450
    11. XM_005252788.2XP_005252845.1  vitamin D 25-hydroxylase isoform X1

      See identical proteins and their annotated locations for XP_005252845.1

      Conserved Domains (1) summary
      pfam00067
      Location:27449
      p450; Cytochrome P450
    12. XM_024448347.1XP_024304115.1  vitamin D 25-hydroxylase isoform X4

      Conserved Domains (1) summary
      pfam00067
      Location:2382
      p450; Cytochrome P450
    13. XM_017017190.2XP_016872679.1  vitamin D 25-hydroxylase isoform X3

      Conserved Domains (1) summary
      pfam00067
      Location:18442
      p450; Cytochrome P450

    RNA

    1. XR_242777.3 RNA Sequence

    2. XR_002957124.1 RNA Sequence

    3. XR_002957123.1 RNA Sequence

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