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Protein

Cytochrome P450 26B1

Gene

CYP26B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH-RA. Essential for postnatal survival. Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints.2 Publications
Has also a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo.1 Publication

Cofactori

hemeBy similarity

Kineticsi

  1. KM=1.01 µM for tazarotenic acid (measured in vitro by the production of tazarotenic acid-sulfoxide)1 Publication
  2. KM=0.56 µM for tazarotenic acid (measured in vitro by the production of hydroxytazarotenic acid production)1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Metal bindingi441Iron (heme axial ligand)Sequence analysis1

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

    Molecular functionMonooxygenase, Oxidoreductase
    LigandHeme, Iron, Metal-binding

    Enzyme and pathway databases

    ReactomeiR-HSA-211916 Vitamins
    R-HSA-5365859 RA biosynthesis pathway
    R-HSA-5579015 Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)
    SABIO-RKiQ9NR63

    Chemistry databases

    SwissLipidsiSLP:000001876

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome P450 26B1 (EC:1.14.13.-2 Publications)
    Alternative name(s):
    Cytochrome P450 26A2
    Cytochrome P450 retinoic acid-inactivating 2
    Short name:
    Cytochrome P450RAI-2
    Retinoic acid-metabolizing cytochrome
    Gene namesi
    Name:CYP26B1
    Synonyms:CYP26A2, P450RAI2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 2

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000003137.8
    HGNCiHGNC:20581 CYP26B1
    MIMi605207 gene
    neXtProtiNX_Q9NR63

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Involvement in diseasei

    Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects.
    See also OMIM:614416
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_067923146S → P in RHFCA. 1 PublicationCorresponds to variant dbSNP:rs281875232EnsemblClinVar.1
    Natural variantiVAR_067924363R → L in RHFCA. 1 PublicationCorresponds to variant dbSNP:rs281875231EnsemblClinVar.1

    Keywords - Diseasei

    Craniosynostosis, Disease mutation

    Organism-specific databases

    DisGeNETi56603
    MalaCardsiCYP26B1
    MIMi614416 phenotype
    OpenTargetsiENSG00000003137
    Orphaneti293925 Lethal occipital encephalocele-skeletal dysplasia syndrome
    PharmGKBiPA134879191

    Chemistry databases

    ChEMBLiCHEMBL3713687

    Polymorphism and mutation databases

    DMDMi20137526

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000519851 – 512Cytochrome P450 26B1Add BLAST512

    Proteomic databases

    MaxQBiQ9NR63
    PaxDbiQ9NR63
    PeptideAtlasiQ9NR63
    PRIDEiQ9NR63
    ProteomicsDBi82286
    82287 [Q9NR63-2]
    82288 [Q9NR63-3]

    PTM databases

    iPTMnetiQ9NR63
    PhosphoSitePlusiQ9NR63

    Expressioni

    Tissue specificityi

    Highly expressed in brain, particularly in the cerebellum and pons.1 Publication

    Inductioni

    By retinoic acid.1 Publication

    Gene expression databases

    BgeeiENSG00000003137 Expressed in 183 organ(s), highest expression level in cerebellar vermis
    CleanExiHS_CYP26B1
    ExpressionAtlasiQ9NR63 baseline and differential
    GenevisibleiQ9NR63 HS

    Organism-specific databases

    HPAiHPA012567

    Interactioni

    Protein-protein interaction databases

    BioGridi121153, 8 interactors
    STRINGi9606.ENSP00000001146

    Chemistry databases

    BindingDBiQ9NR63

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NR63
    SMRiQ9NR63
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Phylogenomic databases

    eggNOGiKOG0157 Eukaryota
    COG2124 LUCA
    GeneTreeiENSGT00800000124060
    HOGENOMiHOG000220829
    HOVERGENiHBG051099
    InParanoidiQ9NR63
    KOiK12664
    OMAiKEGRFHY
    OrthoDBiEOG091G0K6Z
    PhylomeDBiQ9NR63
    TreeFamiTF105093

    Family and domain databases

    Gene3Di1.10.630.10, 1 hit
    InterProiView protein in InterPro
    IPR001128 Cyt_P450
    IPR017972 Cyt_P450_CS
    IPR002403 Cyt_P450_E_grp-IV
    IPR036396 Cyt_P450_sf
    PfamiView protein in Pfam
    PF00067 p450, 1 hit
    PRINTSiPR00465 EP450IV
    PR00385 P450
    SUPFAMiSSF48264 SSF48264, 1 hit
    PROSITEiView protein in PROSITE
    PS00086 CYTOCHROME_P450, 1 hit

    Sequences (3+)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9NR63-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MLFEGLDLVS ALATLAACLV SVTLLLAVSQ QLWQLRWAAT RDKSCKLPIP
    60 70 80 90 100
    KGSMGFPLIG ETGHWLLQGS GFQSSRREKY GNVFKTHLLG RPLIRVTGAE
    110 120 130 140 150
    NVRKILMGEH HLVSTEWPRS TRMLLGPNTV SNSIGDIHRN KRKVFSKIFS
    160 170 180 190 200
    HEALESYLPK IQLVIQDTLR AWSSHPEAIN VYQEAQKLTF RMAIRVLLGF
    210 220 230 240 250
    SIPEEDLGHL FEVYQQFVDN VFSLPVDLPF SGYRRGIQAR QILQKGLEKA
    260 270 280 290 300
    IREKLQCTQG KDYLDALDLL IESSKEHGKE MTMQELKDGT LELIFAAYAT
    310 320 330 340 350
    TASASTSLIM QLLKHPTVLE KLRDELRAHG ILHSGGCPCE GTLRLDTLSG
    360 370 380 390 400
    LRYLDCVIKE VMRLFTPISG GYRTVLQTFE LDGFQIPKGW SVMYSIRDTH
    410 420 430 440 450
    DTAPVFKDVN VFDPDRFSQA RSEDKDGRFH YLPFGGGVRT CLGKHLAKLF
    460 470 480 490 500
    LKVLAVELAS TSRFELATRT FPRITLVPVL HPVDGLSVKF FGLDSNQNEI
    510
    LPETEAMLSA TV
    Length:512
    Mass (Da):57,513
    Last modified:October 1, 2000 - v1
    Checksum:iA06D1D9944E6726F
    GO
    Isoform 2 (identifier: Q9NR63-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         69-143: Missing.

    Show »
    Length:437
    Mass (Da):49,007
    Checksum:i85CA080EB0045520
    GO
    Isoform 3 (identifier: Q9NR63-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-67: MLFEGLDLVS...LIGETGHWLL → MKNKTCVLVC...TLRETRVWLP

    Note: No experimental confirmation available.
    Show »
    Length:495
    Mass (Da):55,756
    Checksum:iF5BBD7200E20573B
    GO

    Computationally mapped potential isoform sequencesi

    There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    E7ER08E7ER08_HUMAN
    Cytochrome P450 26B1
    CYP26B1
    321Annotation score:
    E5RHN4E5RHN4_HUMAN
    Cytochrome P450 26B1
    CYP26B1
    172Annotation score:
    E5RHM2E5RHM2_HUMAN
    Cytochrome P450 26B1
    CYP26B1
    182Annotation score:

    Sequence cautioni

    The sequence BAH12154 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti265D → G in BAH11930 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07598264H → R1 Publication1
    Natural variantiVAR_067923146S → P in RHFCA. 1 PublicationCorresponds to variant dbSNP:rs281875232EnsemblClinVar.1
    Natural variantiVAR_038722181V → M1 PublicationCorresponds to variant dbSNP:rs142999899Ensembl.1
    Natural variantiVAR_038723185A → V1 PublicationCorresponds to variant dbSNP:rs765423228Ensembl.1
    Natural variantiVAR_038724191R → H1 PublicationCorresponds to variant dbSNP:rs76025186Ensembl.1
    Natural variantiVAR_038725227D → N1 PublicationCorresponds to variant dbSNP:rs143738797Ensembl.1
    Natural variantiVAR_024383264L → S3 PublicationsCorresponds to variant dbSNP:rs2241057Ensembl.1
    Natural variantiVAR_067924363R → L in RHFCA. 1 PublicationCorresponds to variant dbSNP:rs281875231EnsemblClinVar.1
    Natural variantiVAR_038726380E → K1 PublicationCorresponds to variant dbSNP:rs2286965Ensembl.1
    Natural variantiVAR_038727420A → G1 PublicationCorresponds to variant dbSNP:rs7568553EnsemblClinVar.1
    Natural variantiVAR_038728473R → C1 PublicationCorresponds to variant dbSNP:rs61751056Ensembl.1
    Natural variantiVAR_038729479V → I1 PublicationCorresponds to variant dbSNP:rs148075682Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0429671 – 67MLFEG…GHWLL → MKNKTCVLVCVSVFGGERGQ VTVPRVGVRRPSLAGPLQKC TLRETRVWLP in isoform 3. 1 PublicationAdd BLAST67
    Alternative sequenceiVSP_04296869 – 143Missing in isoform 2. 2 PublicationsAdd BLAST75

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF252297 mRNA Translation: AAF76003.1
    FJ467289 mRNA Translation: ACR19332.1
    AK294814 mRNA Translation: BAH11892.1
    AK294933 mRNA Translation: BAH11930.1
    AK295683 mRNA Translation: BAH12154.1 Different initiation.
    AK313433 mRNA Translation: BAG36224.1
    AC007002 Genomic DNA Translation: AAY14690.1
    BC069443 mRNA Translation: AAH69443.1
    BC109205 mRNA Translation: AAI09206.1
    CCDSiCCDS1919.1 [Q9NR63-1]
    CCDS62934.1 [Q9NR63-2]
    RefSeqiNP_001264671.1, NM_001277742.1 [Q9NR63-2]
    NP_063938.1, NM_019885.3 [Q9NR63-1]
    UniGeneiHs.91546

    Genome annotation databases

    EnsembliENST00000001146; ENSP00000001146; ENSG00000003137 [Q9NR63-1]
    ENST00000546307; ENSP00000443304; ENSG00000003137 [Q9NR63-2]
    GeneIDi56603
    KEGGihsa:56603
    UCSCiuc002sih.3 human [Q9NR63-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Web resourcesi

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF252297 mRNA Translation: AAF76003.1
    FJ467289 mRNA Translation: ACR19332.1
    AK294814 mRNA Translation: BAH11892.1
    AK294933 mRNA Translation: BAH11930.1
    AK295683 mRNA Translation: BAH12154.1 Different initiation.
    AK313433 mRNA Translation: BAG36224.1
    AC007002 Genomic DNA Translation: AAY14690.1
    BC069443 mRNA Translation: AAH69443.1
    BC109205 mRNA Translation: AAI09206.1
    CCDSiCCDS1919.1 [Q9NR63-1]
    CCDS62934.1 [Q9NR63-2]
    RefSeqiNP_001264671.1, NM_001277742.1 [Q9NR63-2]
    NP_063938.1, NM_019885.3 [Q9NR63-1]
    UniGeneiHs.91546

    3D structure databases

    ProteinModelPortaliQ9NR63
    SMRiQ9NR63
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi121153, 8 interactors
    STRINGi9606.ENSP00000001146

    Chemistry databases

    BindingDBiQ9NR63
    ChEMBLiCHEMBL3713687
    SwissLipidsiSLP:000001876

    PTM databases

    iPTMnetiQ9NR63
    PhosphoSitePlusiQ9NR63

    Polymorphism and mutation databases

    DMDMi20137526

    Proteomic databases

    MaxQBiQ9NR63
    PaxDbiQ9NR63
    PeptideAtlasiQ9NR63
    PRIDEiQ9NR63
    ProteomicsDBi82286
    82287 [Q9NR63-2]
    82288 [Q9NR63-3]

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000001146; ENSP00000001146; ENSG00000003137 [Q9NR63-1]
    ENST00000546307; ENSP00000443304; ENSG00000003137 [Q9NR63-2]
    GeneIDi56603
    KEGGihsa:56603
    UCSCiuc002sih.3 human [Q9NR63-1]

    Organism-specific databases

    CTDi56603
    DisGeNETi56603
    EuPathDBiHostDB:ENSG00000003137.8
    GeneCardsiCYP26B1
    HGNCiHGNC:20581 CYP26B1
    HPAiHPA012567
    MalaCardsiCYP26B1
    MIMi605207 gene
    614416 phenotype
    neXtProtiNX_Q9NR63
    OpenTargetsiENSG00000003137
    Orphaneti293925 Lethal occipital encephalocele-skeletal dysplasia syndrome
    PharmGKBiPA134879191
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0157 Eukaryota
    COG2124 LUCA
    GeneTreeiENSGT00800000124060
    HOGENOMiHOG000220829
    HOVERGENiHBG051099
    InParanoidiQ9NR63
    KOiK12664
    OMAiKEGRFHY
    OrthoDBiEOG091G0K6Z
    PhylomeDBiQ9NR63
    TreeFamiTF105093

    Enzyme and pathway databases

    ReactomeiR-HSA-211916 Vitamins
    R-HSA-5365859 RA biosynthesis pathway
    R-HSA-5579015 Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)
    SABIO-RKiQ9NR63

    Miscellaneous databases

    ChiTaRSiCYP26B1 human
    GeneWikiiCYP26B1
    GenomeRNAii56603
    PROiPR:Q9NR63
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000003137 Expressed in 183 organ(s), highest expression level in cerebellar vermis
    CleanExiHS_CYP26B1
    ExpressionAtlasiQ9NR63 baseline and differential
    GenevisibleiQ9NR63 HS

    Family and domain databases

    Gene3Di1.10.630.10, 1 hit
    InterProiView protein in InterPro
    IPR001128 Cyt_P450
    IPR017972 Cyt_P450_CS
    IPR002403 Cyt_P450_E_grp-IV
    IPR036396 Cyt_P450_sf
    PfamiView protein in Pfam
    PF00067 p450, 1 hit
    PRINTSiPR00465 EP450IV
    PR00385 P450
    SUPFAMiSSF48264 SSF48264, 1 hit
    PROSITEiView protein in PROSITE
    PS00086 CYTOCHROME_P450, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiCP26B_HUMAN
    AccessioniPrimary (citable) accession number: Q9NR63
    Secondary accession number(s): B2R8M7
    , B7Z2K6, B7Z2P4, B7Z3B8, E4W5W7, Q32MC0, Q53TW1, Q9NP41
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: October 1, 2000
    Last modified: November 7, 2018
    This is version 157 of the entry and version 1 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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