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Q6V0L0 (CP26C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytochrome P450 26C1

EC=1.14.-.-
Gene names
Name:CYP26C1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length522 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Cofactor

Heme group By similarity.

Subcellular location

Membrane; Single-pass membrane protein Potential.

Tissue specificity

Detected in most tissues at very low level. Ref.1

Induction

By retinoic acid. Ref.1

Involvement in disease

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. Ref.3

Sequence similarities

Belongs to the cytochrome P450 family.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseEctodermal dysplasia
   DomainTransmembrane
Transmembrane helix
   LigandHeme
Iron
Metal-binding
   Molecular functionMonooxygenase
Oxidoreductase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterior/posterior pattern specification

Inferred from sequence or structural similarity. Source: BHF-UCL

central nervous system development

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of retinoic acid receptor signaling pathway

Non-traceable author statement Ref.1. Source: BHF-UCL

neural crest cell development

Inferred from sequence or structural similarity. Source: BHF-UCL

organelle fusion

Inferred from sequence or structural similarity. Source: BHF-UCL

oxidation-reduction process

Inferred from direct assay Ref.1. Source: BHF-UCL

retinoic acid catabolic process

Inferred from direct assay Ref.1. Source: BHF-UCL

small molecule metabolic process

Traceable author statement. Source: Reactome

vitamin metabolic process

Traceable author statement. Source: Reactome

xenobiotic metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentendoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionheme binding

Inferred from electronic annotation. Source: InterPro

iron ion binding

Inferred from electronic annotation. Source: InterPro

retinoic acid 4-hydroxylase activity

Inferred from direct assay Ref.1. Source: BHF-UCL

retinoic acid binding

Inferred from direct assay Ref.1. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 522522Cytochrome P450 26C1
PRO_0000051987

Regions

Transmembrane9 – 2921Helical; Potential

Sites

Metal binding4591Iron (heme axial ligand) Potential

Natural variations

Natural variant2451R → Q.
Corresponds to variant rs11187265 [ dbSNP | Ensembl ].
VAR_022886

Experimental info

Sequence conflict4471F → L in AAQ55485. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q6V0L0 [UniParc].

Last modified July 19, 2005. Version 2.
Checksum: 5401DF5646E51060

FASTA52257,111
        10         20         30         40         50         60 
MFPWGLSCLS VLGAAGTALL CAGLLLSLAQ HLWTLRWMLS RDRASTLPLP KGSMGWPFFG 

        70         80         90        100        110        120 
ETLHWLVQGS RFHSSRRERY GTVFKTHLLG RPVIRVSGAE NVRTILLGEH RLVRSQWPQS 

       130        140        150        160        170        180 
AHILLGSHTL LGAVGEPHRR RRKVLARVFS RAALERYVPR LQGALRHEVR SWCAAGGPVS 

       190        200        210        220        230        240 
VYDASKALTF RMAARILLGL RLDEAQCATL ARTFEQLVEN LFSLPLDVPF SGLRKGIRAR 

       250        260        270        280        290        300 
DQLHRHLEGA ISEKLHEDKA AEPGDALDLI IHSARELGHE PSMQELKESA VELLFAAFFT 

       310        320        330        340        350        360 
TASASTSLVL LLLQHPAAIA KIREELVAQG LGRACGCAPG AAGGSEGPPP DCGCEPDLSL 

       370        380        390        400        410        420 
AALGRLRYVD CVVKEVLRLL PPVSGGYRTA LRTFELDGYQ IPKGWSVMYS IRDTHETAAV 

       430        440        450        460        470        480 
YRSPPEGFDP ERFGAAREDS RGASSRFHYI PFGGGARSCL GQELAQAVLQ LLAVELVRTA 

       490        500        510        520 
RWELATPAFP AMQTVPIVHP VDGLRLFFHP LTPSVAGNGL CL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1."
Slavotinek A.M., Mehrotra P., Nazarenko I., Tang P.L., Lao R., Cameron D., Li B., Chu C., Chou C., Marqueling A.L., Yahyavi M., Cordoro K., Frieden I., Glaser T., Prescott T., Morren M.A., Devriendt K., Kwok P.Y., Petkovich M., Desnick R.J.
Hum. Mol. Genet. 22:696-703(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN FFDD4.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY356349 mRNA. Translation: AAQ55485.1.
AL358613 Genomic DNA. Translation: CAH72802.2.
RefSeqNP_899230.2. NM_183374.2.
UniGeneHs.369993.

3D structure databases

ProteinModelPortalQ6V0L0.
SMRQ6V0L0. Positions 46-511.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131090. 1 interaction.
STRING9606.ENSP00000285949.

PTM databases

PhosphoSiteQ6V0L0.

Polymorphism databases

DMDM71153209.

Proteomic databases

PaxDbQ6V0L0.
PRIDEQ6V0L0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000285949; ENSP00000285949; ENSG00000187553.
GeneID340665.
KEGGhsa:340665.
UCSCuc010qns.2. human.

Organism-specific databases

CTD340665.
GeneCardsGC10P094811.
H-InvDBHIX0025937.
HGNCHGNC:20577. CYP26C1.
MIM608428. gene.
614974. phenotype.
neXtProtNX_Q6V0L0.
Orphanet79133. Focal facial dermal dysplasia.
PharmGKBPA134913464.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2124.
HOGENOMHOG000220829.
HOVERGENHBG051099.
InParanoidQ6V0L0.
KOK12665.
OMAGDALDMI.
OrthoDBEOG7F24SP.
PhylomeDBQ6V0L0.
TreeFamTF105093.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeQ6V0L0.
CleanExHS_CYP26C1.
GenevestigatorQ6V0L0.

Family and domain databases

Gene3D1.10.630.10. 1 hit.
InterProIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]
PfamPF00067. p450. 1 hit.
[Graphical view]
PRINTSPR00465. EP450IV.
PR00385. P450.
SUPFAMSSF48264. SSF48264. 1 hit.
PROSITEPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCYP26C1.
GenomeRNAi340665.
NextBio97998.
PROQ6V0L0.
SOURCESearch...

Entry information

Entry nameCP26C_HUMAN
AccessionPrimary (citable) accession number: Q6V0L0
Secondary accession number(s): Q5VXH6
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 19, 2005
Last modified: April 16, 2014
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM