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Q6V0L0

- CP26C_HUMAN

UniProt

Q6V0L0 - CP26C_HUMAN

Protein

Cytochrome P450 26C1

Gene

CYP26C1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (19 Jul 2005)
      Previous versions | rss
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    Functioni

    Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA (preferred substrate).

    Cofactori

    Heme group.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi459 – 4591Iron (heme axial ligand)Sequence Analysis

    GO - Molecular functioni

    1. heme binding Source: InterPro
    2. iron ion binding Source: InterPro
    3. retinoic acid 4-hydroxylase activity Source: BHF-UCL
    4. retinoic acid binding Source: BHF-UCL

    GO - Biological processi

    1. anterior/posterior pattern specification Source: BHF-UCL
    2. central nervous system development Source: BHF-UCL
    3. negative regulation of retinoic acid receptor signaling pathway Source: BHF-UCL
    4. neural crest cell development Source: BHF-UCL
    5. organelle fusion Source: BHF-UCL
    6. oxidation-reduction process Source: BHF-UCL
    7. retinoic acid catabolic process Source: BHF-UCL
    8. small molecule metabolic process Source: Reactome
    9. vitamin metabolic process Source: Reactome
    10. xenobiotic metabolic process Source: Reactome

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Ligandi

    Heme, Iron, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_13450. Vitamins.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome P450 26C1 (EC:1.14.-.-)
    Gene namesi
    Name:CYP26C1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:20577. CYP26C1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Focal facial dermal dysplasia 4 (FFDD4) [MIM:614974]: A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ectodermal dysplasia

    Organism-specific databases

    MIMi614974. phenotype.
    Orphaneti79133. Focal facial dermal dysplasia type I.
    PharmGKBiPA134913464.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 522522Cytochrome P450 26C1PRO_0000051987Add
    BLAST

    Proteomic databases

    PaxDbiQ6V0L0.
    PRIDEiQ6V0L0.

    PTM databases

    PhosphoSiteiQ6V0L0.

    Expressioni

    Tissue specificityi

    Detected in most tissues at very low level.1 Publication

    Inductioni

    By retinoic acid.1 Publication

    Gene expression databases

    BgeeiQ6V0L0.
    CleanExiHS_CYP26C1.
    GenevestigatoriQ6V0L0.

    Interactioni

    Protein-protein interaction databases

    BioGridi131090. 1 interaction.
    STRINGi9606.ENSP00000285949.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6V0L0.
    SMRiQ6V0L0. Positions 96-496.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei9 – 2921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2124.
    HOGENOMiHOG000220829.
    HOVERGENiHBG051099.
    InParanoidiQ6V0L0.
    KOiK12665.
    OMAiRTASWEL.
    OrthoDBiEOG7F24SP.
    PhylomeDBiQ6V0L0.
    TreeFamiTF105093.

    Family and domain databases

    Gene3Di1.10.630.10. 1 hit.
    InterProiIPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002403. Cyt_P450_E_grp-IV.
    [Graphical view]
    PfamiPF00067. p450. 1 hit.
    [Graphical view]
    PRINTSiPR00465. EP450IV.
    PR00385. P450.
    SUPFAMiSSF48264. SSF48264. 1 hit.
    PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q6V0L0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFPWGLSCLS VLGAAGTALL CAGLLLSLAQ HLWTLRWMLS RDRASTLPLP    50
    KGSMGWPFFG ETLHWLVQGS RFHSSRRERY GTVFKTHLLG RPVIRVSGAE 100
    NVRTILLGEH RLVRSQWPQS AHILLGSHTL LGAVGEPHRR RRKVLARVFS 150
    RAALERYVPR LQGALRHEVR SWCAAGGPVS VYDASKALTF RMAARILLGL 200
    RLDEAQCATL ARTFEQLVEN LFSLPLDVPF SGLRKGIRAR DQLHRHLEGA 250
    ISEKLHEDKA AEPGDALDLI IHSARELGHE PSMQELKESA VELLFAAFFT 300
    TASASTSLVL LLLQHPAAIA KIREELVAQG LGRACGCAPG AAGGSEGPPP 350
    DCGCEPDLSL AALGRLRYVD CVVKEVLRLL PPVSGGYRTA LRTFELDGYQ 400
    IPKGWSVMYS IRDTHETAAV YRSPPEGFDP ERFGAAREDS RGASSRFHYI 450
    PFGGGARSCL GQELAQAVLQ LLAVELVRTA RWELATPAFP AMQTVPIVHP 500
    VDGLRLFFHP LTPSVAGNGL CL 522
    Length:522
    Mass (Da):57,111
    Last modified:July 19, 2005 - v2
    Checksum:i5401DF5646E51060
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti447 – 4471F → L in AAQ55485. (PubMed:14532297)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti245 – 2451R → Q.
    Corresponds to variant rs11187265 [ dbSNP | Ensembl ].
    VAR_022886

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY356349 mRNA. Translation: AAQ55485.1.
    AL358613 Genomic DNA. Translation: CAH72802.2.
    CCDSiCCDS7425.1.
    RefSeqiNP_899230.2. NM_183374.2.
    UniGeneiHs.369993.

    Genome annotation databases

    EnsembliENST00000285949; ENSP00000285949; ENSG00000187553.
    GeneIDi340665.
    KEGGihsa:340665.
    UCSCiuc010qns.2. human.

    Polymorphism databases

    DMDMi71153209.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY356349 mRNA. Translation: AAQ55485.1 .
    AL358613 Genomic DNA. Translation: CAH72802.2 .
    CCDSi CCDS7425.1.
    RefSeqi NP_899230.2. NM_183374.2.
    UniGenei Hs.369993.

    3D structure databases

    ProteinModelPortali Q6V0L0.
    SMRi Q6V0L0. Positions 96-496.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 131090. 1 interaction.
    STRINGi 9606.ENSP00000285949.

    PTM databases

    PhosphoSitei Q6V0L0.

    Polymorphism databases

    DMDMi 71153209.

    Proteomic databases

    PaxDbi Q6V0L0.
    PRIDEi Q6V0L0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000285949 ; ENSP00000285949 ; ENSG00000187553 .
    GeneIDi 340665.
    KEGGi hsa:340665.
    UCSCi uc010qns.2. human.

    Organism-specific databases

    CTDi 340665.
    GeneCardsi GC10P094811.
    H-InvDB HIX0025937.
    HGNCi HGNC:20577. CYP26C1.
    MIMi 608428. gene.
    614974. phenotype.
    neXtProti NX_Q6V0L0.
    Orphaneti 79133. Focal facial dermal dysplasia type I.
    PharmGKBi PA134913464.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000220829.
    HOVERGENi HBG051099.
    InParanoidi Q6V0L0.
    KOi K12665.
    OMAi RTASWEL.
    OrthoDBi EOG7F24SP.
    PhylomeDBi Q6V0L0.
    TreeFami TF105093.

    Enzyme and pathway databases

    Reactomei REACT_13450. Vitamins.

    Miscellaneous databases

    GeneWikii CYP26C1.
    GenomeRNAii 340665.
    NextBioi 97998.
    PROi Q6V0L0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6V0L0.
    CleanExi HS_CYP26C1.
    Genevestigatori Q6V0L0.

    Family and domain databases

    Gene3Di 1.10.630.10. 1 hit.
    InterProi IPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002403. Cyt_P450_E_grp-IV.
    [Graphical view ]
    Pfami PF00067. p450. 1 hit.
    [Graphical view ]
    PRINTSi PR00465. EP450IV.
    PR00385. P450.
    SUPFAMi SSF48264. SSF48264. 1 hit.
    PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid."
      Taimi M., Helvig C., Wisniewski J., Ramshaw H., White J., Amad M., Korczak B., Petkovich M.
      J. Biol. Chem. 279:77-85(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, INDUCTION.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: INVOLVEMENT IN FFDD4.

    Entry informationi

    Entry nameiCP26C_HUMAN
    AccessioniPrimary (citable) accession number: Q6V0L0
    Secondary accession number(s): Q5VXH6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2005
    Last sequence update: July 19, 2005
    Last modified: October 1, 2014
    This is version 99 of the entry and version 2 of the sequence. [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. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3