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    CYP26A1 cytochrome P450 family 26 subfamily A member 1 [ Homo sapiens (human) ]

    Gene ID: 1592, updated on 9-Dec-2024

    Summary

    Official Symbol
    CYP26A1provided by HGNC
    Official Full Name
    cytochrome P450 family 26 subfamily A member 1provided by HGNC
    Primary source
    HGNC:HGNC:2603
    See related
    Ensembl:ENSG00000095596 MIM:602239; AllianceGenome:HGNC:2603
    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
    CP26; CYP26; P450RAI; P450RAI1
    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 endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward liver (RPKM 15.5) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYP26A1 in Genome Data Viewer
    Location:
    10q23.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (93073475..93077885)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (93953370..93957780)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (94833232..94837642)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2626 Neighboring gene exocyst complex component 6 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:94652149-94652648 Neighboring gene NANOG hESC enhancer GRCh37_chr10:94653981-94654616 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:94667799-94667959 Neighboring gene Sharpr-MPRA regulatory region 15544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3780 Neighboring gene Sharpr-MPRA regulatory region 5548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94820573-94821482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3782 Neighboring gene cytochrome P450 family 26 subfamily C member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94856294-94857150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:94857151-94858007 Neighboring gene Sharpr-MPRA regulatory region 10607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3783 Neighboring gene Sharpr-MPRA regulatory region 3565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3785 Neighboring gene NIP7 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:94897634-94898833 Neighboring gene Sharpr-MPRA regulatory region 1522 Neighboring gene X-ray repair cross complementing 6 pseudogene 1

    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

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of retinoic acid receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to vitamin A IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinoic acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retinoic acid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinoic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    cytochrome P450 26A1
    Names
    P450, retinoic acid-inactivating, 1
    cytochrome P450 retinoic acid-inactivating 1
    cytochrome P450, family 26, subfamily A, polypeptide 1
    cytochrome P450, subfamily XXVIA, polypeptide 1
    cytochrome P450RAI
    hP450RAI
    retinoic acid 4-hydroxylase
    retinoic acid-metabolizing cytochrome
    NP_000774.2
    NP_476498.1

    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_008067.1 RefSeqGene

      Range
      5419..9411
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000783.4NP_000774.2  cytochrome P450 26A1 isoform 1

      See identical proteins and their annotated locations for NP_000774.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer protein (1).
      Source sequence(s)
      AL358613
      Consensus CDS
      CCDS7426.1
      UniProtKB/Swiss-Prot
      B3KNI4, O43174, Q5VXH9, Q5VXI0
      Related
      ENSP00000224356.4, ENST00000224356.5
      Conserved Domains (1) summary
      cl12078
      Location:14492
      p450; Cytochrome P450
    2. NM_057157.2NP_476498.1  cytochrome P450 26A1 isoform 2

      See identical proteins and their annotated locations for NP_476498.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' end region, which doesn't contain an in-frame translation start codon, when compared to variant 1. Translation thus begins at a downstream start codon, and results in a N-terminal truncated protein, as compared to isoform 1.
      Source sequence(s)
      AL358613
      Consensus CDS
      CCDS7427.1
      UniProtKB/Swiss-Prot
      O43174
      Related
      ENSP00000360586.1, ENST00000371531.5
      Conserved Domains (1) summary
      cl12078
      Location:4422
      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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      93073475..93077885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      93953370..93957780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)