CYP26A1 (cytochrome P450 family 26 subfamily A member 1)

Gene

• Entrez ID: 1592
• Gene name: Cytochrome P450 family 26 subfamily A member 1
• Gene symbol: CYP26A1
• Synonyms (NCBI Gene): CP26, CYP26, P450RAI, P450RAI1
• Chromosome: 10
• Chromosome location: 10q23.33
• Summary: 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 endoplasmic r

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018549	hsa-miR-335-5p	Microarray	18185580
MIRT021786	hsa-miR-132-3p	Microarray	17612493
MIRT921060	hsa-miR-1299	CLIP-seq
MIRT921061	hsa-miR-875-3p	CLIP-seq
MIRT2512399	hsa-miR-1229	CLIP-seq
MIRT2512400	hsa-miR-3143	CLIP-seq
MIRT2512401	hsa-miR-342-3p	CLIP-seq
MIRT2512402	hsa-miR-4263	CLIP-seq
MIRT2512403	hsa-miR-4659a-3p	CLIP-seq
MIRT2512404	hsa-miR-4659b-3p	CLIP-seq
MIRT2512405	hsa-miR-4803	CLIP-seq
MIRT2512406	hsa-miR-518a-5p	CLIP-seq
MIRT2512407	hsa-miR-527	CLIP-seq
MIRT2512408	hsa-miR-570	CLIP-seq
MIRT2512409	hsa-miR-576-5p	CLIP-seq
MIRT2512410	hsa-miR-942	CLIP-seq
MIRT2512399	hsa-miR-1229	CLIP-seq
MIRT2678963	hsa-miR-1256	CLIP-seq
MIRT2512400	hsa-miR-3143	CLIP-seq
MIRT2512401	hsa-miR-342-3p	CLIP-seq
MIRT2512402	hsa-miR-4263	CLIP-seq
MIRT2512403	hsa-miR-4659a-3p	CLIP-seq
MIRT2512404	hsa-miR-4659b-3p	CLIP-seq
MIRT2678964	hsa-miR-4668-3p	CLIP-seq
MIRT2512405	hsa-miR-4803	CLIP-seq
MIRT2512406	hsa-miR-518a-5p	CLIP-seq
MIRT2512407	hsa-miR-527	CLIP-seq
MIRT2512408	hsa-miR-570	CLIP-seq
MIRT2512409	hsa-miR-576-5p	CLIP-seq
MIRT2512410	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001972	Function	Retinoic acid binding	IDA	10823918
GO:0004497	Function	Monooxygenase activity	IBA
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006766	Process	Vitamin metabolic process	TAS
GO:0006805	Process	Xenobiotic metabolic process	IDA	26937021
GO:0007417	Process	Central nervous system development	IBA
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	IDA	9228017, 9716180, 10823918
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	IEA
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016709	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IDA	26937021
GO:0019825	Function	Oxygen binding	TAS	9228017
GO:0020037	Function	Heme binding	IEA
GO:0020037	Function	Heme binding	NAS	9228017
GO:0032526	Process	Response to retinoic acid	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0034653	Process	Retinoic acid catabolic process	IBA
GO:0034653	Process	Retinoic acid catabolic process	IDA	10823918
GO:0034653	Process	Retinoic acid catabolic process	IEA
GO:0042573	Process	Retinoic acid metabolic process	IDA	9716180, 22020119
GO:0046872	Function	Metal ion binding	IEA
GO:0048387	Process	Negative regulation of retinoic acid receptor signaling pathway	TAS	14532297
GO:0062182	Function	All-trans retinoic acid 4-hydrolase activity	IEA
GO:0062183	Function	All-trans retinoic acid 18-hydroxylase activity	IDA	22020119
GO:0062183	Function	All-trans retinoic acid 18-hydroxylase activity	IEA

Other IDs

• MIM: 602239
• HGNC: 2603
• e!Ensembl: ENSG00000095596

Protein

• UniProt ID: O43174
• Protein name: Cytochrome P450 26A1 (CYP26A1) (EC 1.14.13.-) (Cytochrome P450 retinoic acid-inactivating 1) (Cytochrome P450RAI) (hP450RAI) (Retinoic acid 4-hydroxylase) (Retinoic acid-metabolizing cytochrome)
• Protein function: A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:22020119, PubMed:9228017, PubMed:9716180). RAs exist as at least four differ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	45 → 487	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in most fetal and adult tissues with highest levels in adult liver, heart, pituitary gland, adrenal gland, placenta and regions of the brain (PubMed:9826557). Expressed at high levels in lung, pancreas, skin and uterus (at pr
• Sequence:

  MGLPALLASALCTFVLPLLLFLAAIKLWDLYCVSGRDRSCALPLPPGTMGFPFFGETLQM
  VLQRRKFLQMKRRKYGFIYKTHLFGRPTVRVMGADNVRRILLGEHRLVSVHWPASVRTIL
  GSGCLSNLHDSSHKQRKKVIMRAFSREALECYVPVITEEVGSSLEQWLSCGERGLLVYPE
  VKRLMFRIAMRILLGCEPQLAGDGDSEQQLVEAFEEMTRNLFSLPIDVPFSGLYRGMKAR
  NLIHARIEQNIRAKICGLRASEAGQGCKDALQLLIEHSWERGERLDMQALKQSSTELLFG
  GHETTASAATSLITYLGLYPHVLQKVREELKSKGLLCKSNQDNKLDMEILEQLKYIGCVI
  KETLRLNPPVPGGFRVALKTFELNGYQIPKGWNVIYSICDTHDVAEIFTNKEEFNPDRFM
  LPHPEDASRFSFIPFGGGLRSCVGKEFAKILLKIFTVELARHCDWQLLNGPPTMKTSPTV
  YPVDNLPARFTHFHGEI

• Sequence length: 497

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Reactome:

Vitamins
RA biosynthesis pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BARRETT ESOPHAGUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11994980, 16194896, 17218384		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18059332		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	18059332		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	18059332		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	18059332		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	18059332		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16885356		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	16885356		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	CTD_human_DG	16885356		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	18050373		★☆☆☆☆ Found in Text Mining only
Antley-Bixler Syndrome with Disordered Steroidogenesis	Antley-Bixler Syndrome	BEFREE	20409737		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	22415012		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	22415012		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	CTD_human_DG	18059332		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	CTD_human_DG	18059332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	16012519, 21371177, 26058854		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21371177	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26058854		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34414947	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10953040		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32737333	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25294402	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	18059332		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	18059332		★☆☆☆☆ Found in Text Mining only
Caudal Regression Syndrome	Caudal regression sequence	BEFREE	16463413		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36199423	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	30373117		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	16885356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	16885356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24599561	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	16463413, 22019272		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	28087752	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	21063030		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	21063030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	18059332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Intestinal Polyposis	Multiple polyposis syndrome	CTD_human_DG	16885356		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24832862		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	29449654	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30885956		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	25294402	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	34414947	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25294402	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	29483666	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	17222838, 31288815	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26047326, 35995769	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	11994980, 17218384, 26047326	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25294402	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16012519, 21371177, 26058854		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	18059332		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18059332, 22179182		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	16885356		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27775549	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19197536, 19701758, 22179182, 27638841		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	29297599	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15714209	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18722776, 20658618		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35707714	Associate	★☆☆☆☆ Found in Text Mining only
Polyposis, Adenomatous Intestinal	Multiple polyposis syndrome	CTD_human_DG	16885356		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28087752		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	12054474, 30916783		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12054474, 30916783		★☆☆☆☆ Found in Text Mining only
Sirenomelia	Sirenomelia	BEFREE	21504909		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	16463413, 16933217		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	LHGDN	16933217		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22179182, 29928370		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11309353, 11912557, 15281009		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	25294402	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	18059332, 22179182		★☆☆☆☆ Found in Text Mining only