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    CYP26B1 cytochrome P450 family 26 subfamily B member 1 [ Homo sapiens (human) ]

    Gene ID: 56603, updated on 25-May-2024

    Summary

    Official Symbol
    CYP26B1provided by HGNC
    Official Full Name
    cytochrome P450 family 26 subfamily B member 1provided by HGNC
    Primary source
    HGNC:HGNC:20581
    See related
    Ensembl:ENSG00000003137 MIM:605207; AllianceGenome:HGNC:20581
    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
    RHFCA; CYP26A2; P450RAI2; P450RAI-2
    Summary
    This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
    Expression
    Broad expression in testis (RPKM 9.5), skin (RPKM 9.2) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CYP26B1 in Genome Data Viewer
    Location:
    2p13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (72129238..72147862, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (72142327..72160951, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (72356367..72374991, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72237860-72238360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72238361-72238861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72239996-72240496 Neighboring gene uncharacterized LOC105374798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72240497-72240997 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:72248010-72248658 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:72248659-72249307 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:72258545-72259744 Neighboring gene ribosomal protein S20 pseudogene 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72263893-72264560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72312423-72312923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72332215-72332714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72355065-72355844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72362955-72363918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:72365847-72366810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72373667-72374189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72374379-72374880 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:72378306-72378481 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:72463389-72463890 Neighboring gene exocyst complex component 6B Neighboring gene ribosomal protein S15a pseudogene 13 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:72773139-72773380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72865570-72866299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72866300-72867028 Neighboring gene Sharpr-MPRA regulatory region 2924 Neighboring gene RNA, U2 small nuclear 39, pseudogene

    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
    Lethal occipital encephalocele-skeletal dysplasia syndrome
    MedGen: C3280729 OMIM: 614416 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC129613, DKFZp686G0638

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in bone morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell fate determination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cornification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic limb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment of T cell polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of skin barrier IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male meiotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of retinoic acid receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of tongue muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proximal/distal pattern formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of T cell differentiation 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinoic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinoic acid receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tongue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    cytochrome P450 26B1
    Names
    cytochrome P450 family 26 subfamily A member 1
    cytochrome P450 retinoic acid-inactivating 2
    cytochrome P450 retinoid metabolizing protein
    cytochrome P450, family 26, subfamily B, polypeptide 1
    cytochrome P450, subfamily XXVIB, polypeptide 1
    retinoic acid-metabolizing cytochrome
    NP_001264671.1
    NP_063938.1
    XP_005264490.1
    XP_011531290.1
    XP_047301075.1
    XP_047301076.1
    XP_054199008.1
    XP_054199009.1
    XP_054199010.1
    XP_054199011.1
    XP_054199012.1
    XP_054199013.1

    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_007957.1 RefSeqGene

      Range
      4973..23597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001277742.2NP_001264671.1  cytochrome P450 26B1 isoform 2

      See identical proteins and their annotated locations for NP_001264671.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AA484668, AF252297, AK294814, DC308258
      Consensus CDS
      CCDS62934.1
      UniProtKB/Swiss-Prot
      Q9NR63
      Related
      ENSP00000443304.1, ENST00000546307.5
      Conserved Domains (1) summary
      COG2124
      Location:68415
      CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport and catabolism, Defense mechanisms]
    2. NM_019885.4NP_063938.1  cytochrome P450 26B1 isoform 1

      See identical proteins and their annotated locations for NP_063938.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007002
      Consensus CDS
      CCDS1919.1
      UniProtKB/Swiss-Prot
      B2R8M7, B7Z2K6, B7Z2P4, B7Z3B8, E4W5W7, Q32MC0, Q53TW1, Q9NP41, Q9NR63
      Related
      ENSP00000001146.2, ENST00000001146.7
      Conserved Domains (1) summary
      cl12078
      Location:23490
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      72129238..72147862 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445119.1XP_047301075.1  cytochrome P450 26B1 isoform X2

    2. XM_005264433.5XP_005264490.1  cytochrome P450 26B1 isoform X1

      Conserved Domains (1) summary
      cl12078
      Location:14432
      p450; Cytochrome P450
    3. XM_047445120.1XP_047301076.1  cytochrome P450 26B1 isoform X3

      UniProtKB/TrEMBL
      E7ER08
      Related
      ENSP00000401465.1, ENST00000412253.1
    4. XM_011532988.2XP_011531290.1  cytochrome P450 26B1 isoform X3

      UniProtKB/TrEMBL
      E7ER08, Q68D05
      Conserved Domains (1) summary
      COG2124
      Location:1299
      CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport and catabolism, Defense mechanisms]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      72142327..72160951 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343036.1XP_054199011.1  cytochrome P450 26B1 isoform X2

    2. XM_054343035.1XP_054199010.1  cytochrome P450 26B1 isoform X2

    3. XM_054343033.1XP_054199008.1  cytochrome P450 26B1 isoform X1

    4. XM_054343034.1XP_054199009.1  cytochrome P450 26B1 isoform X2

    5. XM_054343038.1XP_054199013.1  cytochrome P450 26B1 isoform X3

      UniProtKB/TrEMBL
      E7ER08
    6. XM_054343037.1XP_054199012.1  cytochrome P450 26B1 isoform X3

      UniProtKB/TrEMBL
      E7ER08