CYP24A1 (cytochrome P450 family 24 subfamily A member 1)

2003-02-01 Affiliation

Identity

HGNC

CYP24A1

LOCATION

20q13.2

LOCUSID

1591

ALIAS

CP24,CYP24,HCAI,HCINF1,P450-CC24

FUSION GENES

Show Gene Fusions

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: 1591
MIM: 126065
HGNC: 2602
Ensembl: ENSG00000019186

Variants:

dbSNP: 1591
ClinVar: 1591
TCGA: ENSG00000019186
COSMIC: CYP24A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000019186	ENST00000216862	Q07973
ENSG00000019186	ENST00000395954	Q07973
ENSG00000019186	ENST00000395955	Q07973

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
Steroid biosynthesis	KEGG	ko00100
Steroid biosynthesis	KEGG	hsa00100
Metabolic pathways	KEGG	hsa01100
MicroRNAs in cancer	KEGG	hsa05206
MicroRNAs in cancer	KEGG	ko05206
Metabolism	REACTOME	R-HSA-1430728
Vitamin D (calciferol) metabolism	REACTOME	R-HSA-196791
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
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
Metabolism of fat-soluble vitamins	REACTOME	R-HSA-6806667

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA162263533	nephrotoxicity	Disease	ClinicalAnnotation	associated		PD	31619748
PA164760843	deferasirox	Chemical	ClinicalAnnotation	associated	PK		29099735, 29160302
PA165958354	telaprevir	Chemical	ClinicalAnnotation	associated	PK		26158282
PA166201941	tenofovir disoproxil fumarate	Chemical	ClinicalAnnotation	associated		PD	31619748
PA444445	Hepatitis C	Disease	ClinicalAnnotation	associated	PK		26158282
PA446432	beta-Thalassemia	Disease	ClinicalAnnotation	associated	PK		29099735, 29160302
PA447230	HIV Infections	Disease	ClinicalAnnotation	associated		PD	31619748

References

Pubmed ID	Year	Title	Citations
38350553	2024	MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1 in the progression of gestational diabetes mellitus.	0
38504242	2024	Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.	0
38632160	2024	Gene expression profiling of vitamin D metabolism enzymes in leukemia and lymphoma patients: molecular aspect interplay of VDR, CYP2R1, and CYP24A1.	1
38839691	2024	Zika virus infection suppresses CYP24A1 and CAMP expression in human monocytes.	0
38350553	2024	MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1 in the progression of gestational diabetes mellitus.	0
38504242	2024	Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.	0
38632160	2024	Gene expression profiling of vitamin D metabolism enzymes in leukemia and lymphoma patients: molecular aspect interplay of VDR, CYP2R1, and CYP24A1.	1
38839691	2024	Zika virus infection suppresses CYP24A1 and CAMP expression in human monocytes.	0
36542209	2023	Circular RNA Circ_0005962 Contributes to Lung Adenocarcinoma Cell Proliferation and Stem Cell Formation Through Sponging of miR-3611 and Modulating CYP24A1 Expression.	0
36625425	2023	3' Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1.	0
36833234	2023	Association of CYP24A1 Gene rs6127099 (A > T) Polymorphism with Lower Risk to COVID-19 Infection in Kazakhstan.	1
36928289	2023	Suppression of the vitamin D metabolizing enzyme CYP24A1 provides increased sensitivity to chemotherapeutic drugs in breast cancer.	2
37244301	2023	Local production of active vitamin D(3) metabolites in breast cancer cells by CYP24A1 and CYP27B1.	2
37414755	2023	USP11-mediated LSH deubiquitination inhibits ferroptosis in colorectal cancer through epigenetic activation of CYP24A1.	4
37670334	2023	Genetic polymorphisms of CYP24A1 gene and cancer susceptibility: a meta-analysis including 40640 subjects.	0

Citation

Dessen P

CYP24A1 (cytochrome P450 family 24 subfamily A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40239/img/favicon/favicon-16x16.png