CYP26C1 (cytochrome P450 family 26 subfamily C member 1)

2016-10-01 Affiliation

Identity

HGNC

CYP26C1

LOCATION

10q23.33

LOCUSID

340665

ALIAS

FFDD4

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 340665
MIM: 608428
HGNC: 20577
Ensembl: ENSG00000187553

Variants:

dbSNP: 340665
ClinVar: 340665
TCGA: ENSG00000187553
COSMIC: CYP26C1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000187553	ENST00000624358	A0A096LNL5
ENSG00000187553	ENST00000651965	Q6V0L0

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Retinol metabolism	KEGG	ko00830
Retinol metabolism	KEGG	hsa00830
Metabolic pathways	KEGG	hsa01100
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Retinoic Acid	REACTOME	R-HSA-5362517
RA biosynthesis pathway	REACTOME	R-HSA-5365859
Metabolism	REACTOME	R-HSA-1430728
Biological oxidations	REACTOME	R-HSA-211859
Phase 1 - Functionalization of compounds	REACTOME	R-HSA-211945
Cytochrome P450 - arranged by substrate type	REACTOME	R-HSA-211897
Vitamins	REACTOME	R-HSA-211916

References

Pubmed ID	Year	Title	Citations
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	69
21850183	2011	Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes.	10
16933217	2006	Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida.	7
27861128	2016	Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.	7
19703508	2009	Positive association between ALDH1A2 and schizophrenia in the Chinese population.	5
14532297	2004	A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid.	0
23161670	2013	Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.	0
26009309	2016	Elevated expression of the retinoic acid-metabolizing enzyme CYP26C1 in primary breast carcinomas.	0
29476041	2018	CYP26C1 Is a Hydroxylase of Multiple Active Retinoids and Interacts with Cellular Retinoic Acid Binding Proteins.	0
29706635	2018	Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.	0

Citation

Dessen P

CYP26C1 (cytochrome P450 family 26 subfamily C member 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56075/cyp26c1