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    CYP27B1 cytochrome P450 family 27 subfamily B member 1 [ Homo sapiens (human) ]

    Gene ID: 1594, updated on 2-May-2017
    Official Symbol
    CYP27B1provided by HGNC
    Official Full Name
    cytochrome P450 family 27 subfamily B member 1provided by HGNC
    Primary source
    HGNC:HGNC:2606
    See related
    Ensembl:ENSG00000111012 MIM:609506; Vega:OTTHUMG00000170457
    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
    Also known as
    VDR; CP2B; CYP1; PDDR; VDD1; VDDR; VDDRI; CYP27B; P450c1; CYP1alpha
    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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    12q14.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (57762334..57767193, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58156117..58160976, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene microRNA 6759 Neighboring gene cyclin dependent kinase 4 Neighboring gene membrane associated ring-CH-type finger 9 Neighboring gene methyltransferase like 1 Neighboring gene EEF1A lysine methyltransferase 3

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Vitamin D-dependent rickets, type 1
    MedGen: C0268689 OMIM: 264700 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    NHGRI GWA Catalog
    Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    matrix gag HIV-1 Matrix activates fructose 1,6-bisphosphatase gene expression by induction of 1alpha-hydroxylase activity PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcidiol 1-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcidiol 1-monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    G1 to G0 transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    bone mineralization IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    calcitriol biosynthetic process from calciol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    decidualization IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    negative regulation of calcidiol 1-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of keratinocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of vitamin D 24-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of vitamin D receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to estrogen IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    response to interferon-gamma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to vitamin D IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vitamin D catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    vitamin D metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vitamin D metabolic process TAS
    Traceable Author Statement
    more info
     
    vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
    Names
    1alpha(OH)ase
    25 hydroxyvitamin D3-1-alpha hydroxylase
    25-OHD-1 alpha-hydroxylase
    VD3 1A hydroxylase
    calcidiol 1-monooxygenase
    cytochrome P450 subfamily XXVIIB polypeptide 1
    cytochrome P450, family 27, subfamily B, polypeptide 1
    cytochrome P450C1 alpha
    cytochrome P450VD1-alpha
    cytochrome p450 27B1
    NP_000776.1

    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_007076.1 RefSeqGene

      Range
      5001..9860
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000785.3NP_000776.1  25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

      See identical proteins and their annotated locations for NP_000776.1

      Status: REVIEWED

      Source sequence(s)
      AB005038, AW449645, BP296031
      Consensus CDS
      CCDS8954.1
      UniProtKB/Swiss-Prot
      O15528
      Related
      ENSP00000228606.4, OTTHUMP00000243864, ENST00000228606.8, OTTHUMT00000409248
      Conserved Domains (1) summary
      pfam00067
      Location:41505
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      57762334..57767193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      58123921..58128780 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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