Aliases for CYP26C1 Gene
Aliases for CYP26C1 Gene
External Ids for CYP26C1 Gene
- HGNC: 20577
- Entrez Gene: 340665
- Ensembl: ENSG00000187553
- OMIM: 608428
- UniProtKB: Q6V0L0
Previous GeneCards Identifiers for CYP26C1 Gene
- GC10P094952
- GC10P094485
- GC10P094811
- GC10P088448
Summaries 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 Drug metabolism - cytochrome P450. 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 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).
-
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.
Additional gene information for CYP26C1 Gene
- Monarch Initiative
- Search for CYP26C1 at DataMed
- Search for CYP26C1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP26C1 Gene
Genomics for CYP26C1 Gene
GeneHancer (GH) Regulatory Elements for CYP26C1 Gene
Promoters and enhancers for CYP26C1 Gene
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CYP26C1 gene promoter:
-
- NRSF form 2
- NRSF form 1
- E47
- GATA-2
Regulatory Element Products
Genomic Locations for CYP26C1 Gene
Genomic Locations for CYP26C1 Gene
- chr10:93,060,808-93,069,536
- (GRCh38/hg38)
- Size:
- 8,729 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:
-
- 10q23.33 by Entrez Gene
- 10q23.33 by HGNC
- 10q23.33 by Ensembl
CYP26C1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for CYP26C1 Gene
Post-translational modifications for CYP26C1 Gene
Other Protein References for CYP26C1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CYP26C1
-
Abcam antibodies for CYP26C1
- Invitrogen Antibodies for CYP26C1 (AFLGC-CYP26C1)
- GeneTex cyp26c1 Antibody for CYP26C1
-
Boster Bio Antibodies for CYP26C1
Protein Products
-
OriGene Purified Proteins for CYP26C1
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- Search GeneTex for Proteins for CYP26C1
-
Abcam proteins for CYP26C1
Assay Products
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CYP26C1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6V0L0- Family:
-
- Belongs to the cytochrome P450 family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001972 | retinoic acid binding | IDA | 14532297 |
| GO:0004497 | monooxygenase activity | IBA,IEA | -- |
| GO:0005506 | iron ion binding | IEA | -- |
| GO:0008401 | retinoic acid 4-hydroxylase activity | TAS | -- |
| GO:0016491 | oxidoreductase activity | IEA,IBA | -- |
Phenotypes for CYP26C1 Gene
- MGI mutant phenotypes for CYP26C1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CYP26C1:
-
- Dynamic nuclei (hole, folded or small irregular)
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased Salmonella enterica Typhimurium invasion
- Decreased Salmonella enterica Typhimurium binding
- Decreased Salmonella-containing vacuole maturation
- Decreased Salmonella enterica Typhimurium effector injection
- Decreased Salmonella enterica Typhimurium membrane closure
- Decreased viability
- no effect
- Decreased IL-8 secretion
Animal Models for CYP26C1 Gene
- MGI Knock Outs for CYP26C1:
-
- Cyp26c1 Cyp26c1<tm1.1Keya>
Animal Model Products
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-
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-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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- Overview of 48 available CYP26C1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CYP26C1
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| nucleus | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP26C1 Gene
Pathways & Interactions for CYP26C1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type |
.01
|
|
| 2 | Metabolism |
.37
|
|
| 3 | Signaling by Retinoic Acid | ||
| 4 | Drug metabolism - cytochrome P450 | ||
| 5 | Signaling by GPCR | ||
Pathways by source for CYP26C1 Gene
2 BioSystems pathways for CYP26C1 Gene
8 Reactome pathways for CYP26C1 Gene
2 KEGG pathways for CYP26C1 Gene
Interacting Proteins for CYP26C1 Gene
GPS-Prot Interaction Network for CYP26C1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006766 | vitamin metabolic process | TAS | -- |
| GO:0007417 | central nervous system development | ISS,IEA | -- |
| GO:0009952 | anterior/posterior pattern specification | IEA,ISS | -- |
| GO:0014032 | neural crest cell development | IEA,ISS | -- |
| GO:0016125 | sterol metabolic process | IBA | -- |
No data available for SIGNOR curated interactions for CYP26C1 Gene
Drugs & Compounds for CYP26C1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Alitretinoin | Approved, Investigational | Pharma | Agonist, Target | 17 | ||
| Tretinoin | Approved, Investigational | Nutra | Full agonist, Agonist, Antagonist, Target | 242 | ||
| Anastrozole | Approved, Investigational | Pharma | Aromatase inhibitor, Aromatase Inhibitors, Hormone therapy, Potent aromatase (CYP19) inhibitor | 297 | ||
| Exemestane | Approved, Investigational | Pharma | Steroidal aromatase inhibitor,selective and irreversible, Steroidal aromatase (CYP19) inhibitor | 234 | ||
| Ketoconazole | Approved, Investigational | Pharma | Pore Blocker | Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor | 179 |
(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 |
Drug Products
Transcripts for CYP26C1 Gene
mRNA/cDNA for CYP26C1 Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (5) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000624358 4208 bps (uc009xud.4)
- ENST00000285949 1569 bps (uc010qns.2)
Unigene Clusters for CYP26C1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CYP26C1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP26C1
- genomics-online: gRNA clones - Search results for 48 available CYP26C1 gene related products
- Overview of 48 available CYP26C1 gene related products
- Applied Biological Materials CRISPR for CYP26C1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP26C1
- GenScript: Design CRISPR guide RNA sequences for CYP26C1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYP26C1
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Clone Products
- Sino Biological Human cDNA Clone for CYP26C1
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- Applied Biological Materials Clones for CYP26C1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||
| SP3: | - | - |
Expression for CYP26C1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Tooth (Integumentary System)
- Early Ameloblasts Dental Enamel
- Dental Placode Cells Dental Placode
- Inner Enamel Epithelial Cells Dental Enamel
-
Epithelial Cells
- Early Ameloblasts Dental Enamel
- Dental Placode Cells Dental Placode
- Inner Enamel Epithelial Cells Dental Enamel
- Head Mesenchyme (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for CYP26C1 Gene
This gene is overexpressed in Testis (x8.4) and Spleen (x4.1).
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
NURSA nuclear receptor signaling pathways regulating expression of CYP26C1 Gene:
CYP26C1SOURCE GeneReport for Unigene cluster for CYP26C1 Gene:
Hs.369993mRNA Expression by UniProt/SwissProt for CYP26C1 Gene:
Q6V0L0-CP26C_HUMAN
Tissue specificity:
Detected in most tissues at very low level.
Primer Products
-
OriGene qPCR primer pairs for CYP26C1
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Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CYP26C1 34 |
|
OneToOne | |
| LOC100610581 33 |
|
||||
| cow (Bos Taurus) |
Mammalia | CYP26C1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cyp26c1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cyp26c1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYP26C1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CYP26C1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CYP26C1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100489980 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.1946 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cyp26c1 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Cyp313a3 34 |
|
ManyToMany | |
| Cyp313a5 34 |
|
ManyToMany | |||
| Cyp313a2 34 |
|
ManyToMany | |||
| Cyp313a4 34 |
|
ManyToMany | |||
| Cyp313b1 34 |
|
ManyToMany | |||
| Cyp313a1 34 |
|
ManyToMany | |||
| Cyp318a1 34 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ERG11 34 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | CYP718 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5303 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany |
- Species where no ortholog for CYP26C1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
Variants for CYP26C1 Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs869025253 | likely-benign, Anophthalmia - microphthalmia | 93,068,371(+) | C/G | coding_sequence_variant, missense_variant | |
| rs1000279251 | -- | 93,059,535(+) | G/A | upstream_transcript_variant | |
| rs1000323921 | -- | 93,065,038(+) | T/C | intron_variant | |
| rs1000435806 | -- | 93,065,352(+) | A/G | intron_variant | |
| rs1000488109 | -- | 93,065,139(+) | C/A | intron_variant |
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
SNP Genotyping and Copy Number Assay Products
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
(6) MalaCards diseases for CYP26C1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| focal facial dermal dysplasia 4 |
|
|
| focal facial dermal dysplasia |
|
|
| barber-say syndrome |
|
|
| diffuse idiopathic skeletal hyperostosis |
|
|
| aplasia cutis congenita |
|
|
Search CYP26C1 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for CYP26C1 Gene
Publications for CYP26C1 Gene
- 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 22 58
- Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. (PMID: 23161670) Slavotinek AM … Desnick RJ (Human molecular genetics 2013) 3 4 58
- Positive association between ALDH1A2 and schizophrenia in the Chinese population. (PMID: 19703508) Wan C … He L (Progress in neuro-psychopharmacology & biological psychiatry 2009) 3 44 58
- 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 44 58
- 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 44 58
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP26C1
- GeneCopoeia miRNA 3'UTR Target clone products for CYP26C1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP26C1
- Boster Bio Antibodies for CYP26C1
- Browse Boster Bio ELISA Kits
Sources for CYP26C1 Gene
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