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

Gene ID: 120227, updated on 8-Dec-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
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

Function Evidence Code Pubs
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin D3 25-hydroxylase activity TAS
Traceable Author Statement
more info
 
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 
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, ENST00000334636.9
    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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