This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels... See more...

Aliases for CYP26C1 Gene

Aliases for CYP26C1 Gene

  • Cytochrome P450 Family 26 Subfamily C Member 1 2 3 5
  • Cytochrome P450, Family 26, Subfamily C, Polypeptide 1 2 3
  • Cytochrome P450 26C1 3 4
  • EC 1.14.-.- 4
  • CYP26C1 5
  • FFDD4 3

External Ids for CYP26C1 Gene

Previous GeneCards Identifiers for CYP26C1 Gene

  • GC10P094952
  • GC10P094485
  • GC10P094811
  • GC10P088448

Summaries for CYP26C1 Gene

Entrez Gene Summary for CYP26C1 Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP26C1 Gene

CYP26C1 (Cytochrome P450 Family 26 Subfamily C Member 1) is a Protein Coding gene. Diseases associated with CYP26C1 include Focal Facial Dermal Dysplasia 4 and Focal Facial Dermal Dysplasia. Among its related pathways are Cytochrome P450 - arranged by substrate type and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP26B1.

UniProtKB/Swiss-Prot Summary for CYP26C1 Gene

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

Tocris Summary for CYP26C1 Gene

  • Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane. CYPs have oxygenase activity.

Gene Wiki entry for CYP26C1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP26C1 Gene

Genomics for CYP26C1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP26C1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J093062 Promoter 0.6 Ensembl 600.7 +1.5 1503 0.6 CTCF ZNF143 RAD21 ZBTB33 EZH2 ENSG00000226425 CYP26C1 ENSG00000285846 CYP26A1
GH10J093061 Promoter 0.4 Ensembl 600.7 +0.9 903 0.2 EZH2 ENSG00000226425 CYP26C1 ENSG00000285846 CYP26A1
GH10J092891 Enhancer 1.5 UCNEbase Ensembl ENCODE 10.7 -167.9 -167898 5.4 CREB1 GATAD2A REST ZNF629 TFE3 RCOR2 ZHX2 JUND FOXA1 PRDM1 CYP26C1 ENSG00000226425 ENSG00000225118 RF00017-740 EXOC6
GH10J093287 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 +227.8 227780 2.5 GATAD2A CTCF TEAD4 TFE3 TARDBP FOXA1 ZNF24 REST RAD21 IRF2 CYP26C1 ENSG00000226425 PDE6C RPL17P34 lnc-RBP4-4 MYOF CYP26A1
GH10J092970 Enhancer 1.1 Ensembl ENCODE 11.4 -88.4 -88397 3.6 GATAD2A LEF1 IKZF1 NFKBIZ ZNF7 JUND PRDM1 MTA2 PKNOX1 MTA1 CYP26C1 ENSG00000226425 XRCC6P1 MG828730-011 RF00017-740 EXOC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP26C1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP26C1

Top Transcription factor binding sites by QIAGEN in the CYP26C1 gene promoter:
  • E47
  • GATA-2
  • NRSF form 1
  • NRSF form 2

Genomic Locations for CYP26C1 Gene

Genomic Locations for CYP26C1 Gene
chr10:93,060,798-93,069,540
(GRCh38/hg38)
Size:
8,743 bases
Orientation:
Plus strand
chr10:94,821,021-94,828,454
(GRCh37/hg19)
Size:
7,434 bases
Orientation:
Plus strand

Genomic View for CYP26C1 Gene

Genes around CYP26C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP26C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP26C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP26C1 Gene

Proteins for CYP26C1 Gene

  • Protein details for CYP26C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6V0L0-CP26C_HUMAN
    Recommended name:
    Cytochrome P450 26C1
    Protein Accession:
    Q6V0L0
    Secondary Accessions:
    • Q5VXH6

    Protein attributes for CYP26C1 Gene

    Size:
    522 amino acids
    Molecular mass:
    57111 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP26C1 Gene

Post-translational modifications for CYP26C1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP26C1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP26C1 Gene

Domains & Families for CYP26C1 Gene

Gene Families for CYP26C1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for CYP26C1 Gene

InterPro:
Blocks:
  • E-class P450 group IV signature
ProtoNet:

Suggested Antigen Peptide Sequences for CYP26C1 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome P450 26C1 (CP26C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6V0L0

UniProtKB/Swiss-Prot:

CP26C_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP26C1: view

Function for CYP26C1 Gene

Molecular function for CYP26C1 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction:
By retinoic acid.

Enzyme Numbers (IUBMB) for CYP26C1 Gene

Phenotypes From GWAS Catalog for CYP26C1 Gene

Gene Ontology (GO) - Molecular Function for CYP26C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000249 C-22 sterol desaturase activity IBA --
GO:0001972 retinoic acid binding IDA 14532297
GO:0004497 monooxygenase activity IBA 21873635
GO:0005506 iron ion binding IEA --
GO:0008401 retinoic acid 4-hydroxylase activity TAS --
genes like me logo Genes that share ontologies with CYP26C1: view
genes like me logo Genes that share phenotypes with CYP26C1: view

Human Phenotype Ontology for CYP26C1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP26C1 Gene

MGI Knock Outs for CYP26C1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP26C1

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for CYP26C1 Gene

Localization for CYP26C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP26C1 Gene

Membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP26C1 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 2
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for CYP26C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYP26C1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP26C1 Gene

Pathways & Interactions for CYP26C1 Gene

genes like me logo Genes that share pathways with CYP26C1: view

Pathways by source for CYP26C1 Gene

Interacting Proteins for CYP26C1 Gene

Gene Ontology (GO) - Biological Process for CYP26C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006696 ergosterol biosynthetic process IBA --
GO:0006766 vitamin metabolic process TAS --
GO:0007417 central nervous system development IEA,ISS --
GO:0009952 anterior/posterior pattern specification IEA,ISS --
GO:0014032 neural crest cell development IEA,ISS --
genes like me logo Genes that share ontologies with CYP26C1: view

No data available for SIGNOR curated interactions for CYP26C1 Gene

Drugs & Compounds for CYP26C1 Gene

(9) Drugs for CYP26C1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alitretinoin Approved, Investigational Pharma Agonist, Target 17
Tretinoin Approved, Investigational Nutra Agonist, Full agonist, Antagonist, Target 273
Anastrozole Approved, Investigational Pharma Aromatase inhibitor, Potent aromatase (CYP19) inhibitor, Aromatase Inhibitors, Hormone therapy 337
Exemestane Approved, Investigational Pharma Steroidal aromatase inhibitor,selective and irreversible, Steroidal aromatase (CYP19) inhibitor 258
Ketoconazole Approved, Investigational Pharma Pore Blocker Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor 194

(5) Tocris Compounds for CYP26C1 Gene

Compound Action Cas Number
Anastrozole Potent aromatase (CYP19) inhibitor 120511-73-1
Exemestane Steroidal aromatase (CYP19) inhibitor 107868-30-4
Ketoconazole Cytochrome P450c17 inhibitor 65277-42-1
TMS Cytochrome P450 1B1 inhibitor 24144-92-1
YM 511 Potent aromatase (CYP19) inhibitor 148869-05-0

(1) ApexBio Compounds for CYP26C1 Gene

Compound Action Cas Number
TMS 24144-92-1
genes like me logo Genes that share compounds with CYP26C1: view

Drug Products

Transcripts for CYP26C1 Gene

mRNA/cDNA for CYP26C1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP26C1

Alternative Splicing Database (ASD) splice patterns (SP) for CYP26C1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1: -
SP2: - -
SP3: - -

Relevant External Links for CYP26C1 Gene

GeneLoc Exon Structure for
CYP26C1

Expression for CYP26C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP26C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP26C1 Gene

This gene is overexpressed in Testis (x8.4) and Spleen (x4.1).

Protein differential expression in normal tissues from HIPED for CYP26C1 Gene

This gene is overexpressed in Tlymphocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP26C1 Gene



Protein tissue co-expression partners for CYP26C1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP26C1

SOURCE GeneReport for Unigene cluster for CYP26C1 Gene:

Hs.369993

mRNA Expression by UniProt/SwissProt for CYP26C1 Gene:

Q6V0L0-CP26C_HUMAN
Tissue specificity: Detected in most tissues at very low level.
genes like me logo Genes that share expression patterns with CYP26C1: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP26C1 Gene

Orthologs for CYP26C1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP26C1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYP26C1 31
  • 100 (a)
OneToOne
LOC100610581 30
  • 99.68 (n)
Cow
(Bos Taurus)
Mammalia CYP26C1 30 31
  • 88.44 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cyp26c1 30 17 31
  • 84.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyp26c1 30
  • 84.4 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CYP26C1 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CYP26C1 30 31
  • 72.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CYP26C1 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489980 30
  • 65.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1946 30
Zebrafish
(Danio rerio)
Actinopterygii cyp26c1 30 31
  • 62.12 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Cyp313a3 31
  • 20 (a)
ManyToMany
Cyp313a5 31
  • 20 (a)
ManyToMany
Cyp313a2 31
  • 20 (a)
ManyToMany
Cyp313a4 31
  • 18 (a)
ManyToMany
Cyp313b1 31
  • 18 (a)
ManyToMany
Cyp313a1 31
  • 18 (a)
ManyToMany
Cyp318a1 31
  • 17 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG11 31
  • 18 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CYP718 30
  • 40.93 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5303 31
  • 36 (a)
ManyToMany
-- 31
  • 29 (a)
ManyToMany
Species where no ortholog for CYP26C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CYP26C1 Gene

ENSEMBL:
Gene Tree for CYP26C1 (if available)
TreeFam:
Gene Tree for CYP26C1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP26C1: view image

Paralogs for CYP26C1 Gene

Paralogs for CYP26C1 Gene

(4) SIMAP similar genes for CYP26C1 Gene using alignment to 1 proteins:

  • CP26C_HUMAN
genes like me logo Genes that share paralogs with CYP26C1: view

Variants for CYP26C1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP26C1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
708687 Benign: not provided 93,065,979(+) C/T SYNONYMOUS_VARIANT
717978 Benign: not provided 93,061,447(+) A/T MISSENSE_VARIANT
722068 Likely Benign: not provided 93,061,329(+) G/T SYNONYMOUS_VARIANT
725155 Likely Benign: not provided 93,061,345(+) C/T SYNONYMOUS_VARIANT
731187 Benign: not provided 93,062,823(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CYP26C1 Gene

Variation tolerance for CYP26C1 Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.76; 66.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP26C1 Gene

Human Gene Mutation Database (HGMD)
CYP26C1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP26C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CYP26C1 Gene

Disorders for CYP26C1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CYP26C1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
focal facial dermal dysplasia 4
  • ffdd4
focal facial dermal dysplasia
  • brauer syndrome
barber-say syndrome
  • bbrsay
optic nerve hypoplasia, bilateral
  • optic nerve hypoplasia
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP26C_HUMAN
  • 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. {ECO:0000269 PubMed:23161670}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CYP26C1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CYP26C1: view

No data available for Genatlas for CYP26C1 Gene

Publications for CYP26C1 Gene

  1. A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid. (PMID: 14532297) Taimi M … Petkovich M (The Journal of biological chemistry 2004) 3 4 23
  2. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. (PMID: 23161670) Slavotinek AM … Desnick RJ (Human molecular genetics 2013) 3 4
  3. Positive association between ALDH1A2 and schizophrenia in the Chinese population. (PMID: 19703508) Wan C … He L (Progress in neuro-psychopharmacology & biological psychiatry 2009) 3 41
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41
  5. Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida. (PMID: 16933217) Rat E … Broly F (Birth defects research. Part A, Clinical and molecular teratology 2006) 3 41

Products for CYP26C1 Gene

Sources for CYP26C1 Gene