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Q6V0L0

- CP26C_HUMAN

UniProt

Q6V0L0 - CP26C_HUMAN

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Protein
Cytochrome P450 26C1
Gene
CYP26C1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

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) Reviewed prediction

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei9 – 2921Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 26C1
PRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.

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

Natural variant

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti447 – 4471F → L in AAQ55485. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 98 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

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