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

    Gene ID: 1594, updated on 9-Dec-2024

    Summary

    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; AllianceGenome:HGNC:2606
    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]
    Expression
    Biased expression in kidney (RPKM 9.5), thyroid (RPKM 4.8) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CYP27B1 in Genome Data Viewer
    Location:
    12q14.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57762334..57767078, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57730683..57735427, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58156117..58160861, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tetraspanin 31 Neighboring gene microRNA 6759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4588 Neighboring gene cyclin dependent kinase 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58145719-58146452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6554 Neighboring gene membrane associated ring-CH-type finger 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:58158104-58158882 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:58164747-58165946 Neighboring gene methyltransferase 1, tRNA methylguanosine Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58166052-58166561 Neighboring gene EEF1A lysine methyltransferase 3

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Vitamin D-dependent rickets, type 1A
    MedGen: CN283242 OMIM: 264700 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcidiol 1-monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcidiol 1-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcidiol 1-monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables secalciferol 1-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G1 to G0 transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone mineralization IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in calcitriol biosynthetic process from calciol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcitriol biosynthetic process from calciol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in decidualization IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in negative regulation of calcidiol 1-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of keratinocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of vitamin D 24-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of vitamin D receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to estrogen IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to type II interferon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to vitamin D IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to vitamin D IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vitamin D catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vitamin D metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vitamin D metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5116..9860
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000785.4NP_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
      Consensus CDS
      CCDS8954.1
      UniProtKB/Swiss-Prot
      B2RC61, O15528, Q548T3
      UniProtKB/TrEMBL
      A0AAA9YHN9
      Related
      ENSP00000228606.4, ENST00000228606.9
      Conserved Domains (1) summary
      pfam00067
      Location:41505
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57762334..57767078 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57730683..57735427 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)