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cytochrome P450 family 24 subfamily A member 1

Summary

Gene Symbol

CYP24A1

Aliases

CP24
P450-CC24
lncBCAS1-4_1

Organism

Homo sapiens (human)

External Links

NCBI Gene

1591

HGNC

2602

KEGG Gene ID

hsa:1591

PubChem

1591

Alliance of Genome Resources

HGNC:2602

Annotation

Keyword

Alternative splicing
Disease variant
Heme
Lipid metabolism
Mitochondrion
Monooxygenase
Reference proteome
Transit peptide

Proteins

Displaying 1 entry
UniProt	Protein Name
Q07973	Cytochrome P450 24A1 Cytochrome P450-CC24

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
vitamin D catabolic process	IBA IDA NAS	16617161 16720713 24893882 29461981 8506296 8679605
vitamin D metabolic process
vitamin D receptor signaling pathway		16720713
osteoblast differentiation	IEP	17023519
vitamin metabolic process

GO Hierarchy

biological process

metabolic process [inference]

catabolic process [inference]

cellular catabolic process [inference]

vitamin catabolic process [inference]

fat-soluble vitamin catabolic process [inference]

vitamin D catabolic process

small molecule catabolic process [inference]

vitamin catabolic process [inference]

fat-soluble vitamin catabolic process [inference]

vitamin D catabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

steroid catabolic process [inference]

vitamin D catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process [inference]

vitamin D catabolic process

organic hydroxy compound catabolic process [inference]

vitamin D catabolic process

cellular metabolic process [inference]

cellular catabolic process [inference]

vitamin catabolic process [inference]

fat-soluble vitamin catabolic process [inference]

vitamin D catabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid catabolic process [inference]

vitamin D catabolic process

vitamin D metabolic process

vitamin D catabolic process

lipid catabolic process [inference]

steroid catabolic process [inference]

vitamin D catabolic process

small molecule metabolic process [inference]

vitamin metabolic process

fat-soluble vitamin metabolic process [inference]

vitamin D metabolic process

vitamin D catabolic process

fat-soluble vitamin catabolic process [inference]

vitamin D catabolic process

vitamin catabolic process [inference]

fat-soluble vitamin catabolic process [inference]

vitamin D catabolic process

small molecule catabolic process [inference]

vitamin catabolic process [inference]

fat-soluble vitamin catabolic process [inference]

vitamin D catabolic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid catabolic process [inference]

vitamin D catabolic process

vitamin D metabolic process

vitamin D catabolic process

lipid catabolic process [inference]

steroid catabolic process [inference]

vitamin D catabolic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid catabolic process [inference]

vitamin D catabolic process

vitamin D metabolic process

vitamin D catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process [inference]

vitamin D catabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

steroid catabolic process [inference]

vitamin D catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process [inference]

vitamin D catabolic process

organic hydroxy compound catabolic process [inference]

vitamin D catabolic process

organic hydroxy compound metabolic process [inference]

vitamin D metabolic process

vitamin D catabolic process

organic hydroxy compound catabolic process [inference]

vitamin D catabolic process

cellular process [inference]

signal transduction [inference]

intracellular receptor signaling pathway [inference]

vitamin D receptor signaling pathway

cellular metabolic process [inference]

cellular catabolic process [inference]

vitamin catabolic process [inference]

fat-soluble vitamin catabolic process [inference]

vitamin D catabolic process

cellular developmental process [inference]

cell differentiation [inference]

osteoblast differentiation

developmental process [inference]

cellular developmental process [inference]

cell differentiation [inference]

osteoblast differentiation

response to stimulus [inference]

response to external stimulus [inference]

response to extracellular stimulus [inference]

response to nutrient levels [inference]

response to nutrient [inference]

response to vitamin [inference]

response to vitamin D

response to chemical [inference]

response to nutrient [inference]

response to vitamin [inference]

response to vitamin D

response to organic substance [inference]

response to organic cyclic compound [inference]

response to vitamin D

response to lipid [inference]

response to vitamin D

response to oxygen-containing compound [inference]

response to vitamin D

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

intracellular receptor signaling pathway [inference]

vitamin D receptor signaling pathway

Displaying 1 entry
GO Term	Evidence Code	PMID
mitochondrial inner membrane

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

organelle inner membrane [inference]

mitochondrial inner membrane

mitochondrial membrane [inference]

mitochondrial inner membrane

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GO Term	Evidence Code	PMID
vitamin D 25-hydroxylase activity	IBA IDA	25727742
1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity	IDA	16617161 24893882 29461981
iron ion binding	IEA
1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity	IBA IDA TAS	16617161 24893882 8506296 8679605
25-hydroxycholecalciferol-23-hydroxylase activity	IDA	11012668 24893882 8679605

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

vitamin D 23-hydroxylase activity [inference]

vitamin D 24-hydroxylase activity [inference]

vitamin D 25-hydroxylase activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [inference]

25-hydroxycholecalciferol-24-hydroxylase activity

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

iron ion binding

organic cyclic compound binding [inference]

tetrapyrrole binding [inference]

heme binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000019186

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K07436

Name

vitamin D3 24-hydroxylase [EC:1.14.15.16]

References

Rhea

RHEA:24968

H⁺ + O₂ + calcidiol

H₂O + secalciferol

Enzyme

1.14.15.16

PMID

RHEA:24976

H⁺ + O₂ + (1S)-1,25-dihydroxy-24-oxocalciol

H₂O + (1S)-1,23,25-trihydroxy-24-oxocalciol

Enzyme

1.14.15.16

PMID

RHEA:24988

H⁺ + O₂ + (1S)-1-hydroxy-23-oxo-24,25,26,27-tetranorcalciol

H₂O + calcitroate

Enzyme

1.14.15.16

PMID

RHEA:24984

H⁺ + O₂ + (1S)-1,23-dihydroxy-24,25,26,27-tetranorcalciol

H₂O + (1S)-1-hydroxy-23-oxo-24,25,26,27-tetranorcalciol

Enzyme

1.14.15.16

PMID

RHEA:24972

H⁺ + O₂ + calcitetrol

H₂O + (1S)-1,25-dihydroxy-24-oxocalciol

Enzyme

1.14.15.16

PMID

RHEA:24964

H⁺ + O₂ + calcitriol

H₂O + calcitetrol

Enzyme

1.14.15.16

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0110750	type 1 diabetes mellitus 11	DisGeNET
DOID:0110751	type 1 diabetes mellitus 12	DisGeNET
DOID:0110752	type 1 diabetes mellitus 13	DisGeNET
DOID:0110753	type 1 diabetes mellitus 15	DisGeNET
DOID:0110754	type 1 diabetes mellitus 17	DisGeNET
DOID:0110755	type 1 diabetes mellitus 18	DisGeNET
DOID:0110756	type 1 diabetes mellitus 19	DisGeNET
DOID:0110757	type 1 diabetes mellitus 20	DisGeNET
DOID:0110758	type 1 diabetes mellitus 21	DisGeNET
DOID:0110759	type 1 diabetes mellitus 22	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000103	Polyuria
HP:0000121	Nephrocalcinosis
HP:0000787	Nephrolithiasis
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001508	Failure to thrive
HP:0001824	Weight loss
HP:0001944	Dehydration
HP:0002013	Vomiting

Displaying 1 entry
Disease ID	Disease Name
OMIM:143880	hypercalcemia, infantile, 1

PubChem Disease

GHR Health Conditions

Idiopathic infantile hypercalcemia

MedGen Diseases

Hypercalcemia, infantile, 1

OMIM Phenotypes

HYPERCALCEMIA, INFANTILE, 1; HCINF1

KEGG Diseases

Hypercalcemia infantile

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP004331
Gene Name: cytochrome P450, family 24, subfamily A, polypeptide 1

Ortholog

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Species	Gene ID	Alliance of Genome Resources
Caenorhabditis elegans	173936	WB:WBGene00000375
Drosophila melanogaster	36105	FB:FBgn0033524
Drosophila melanogaster	36378	FB:FBgn0033753
Drosophila melanogaster	37163	FB:FBgn0034387
Drosophila melanogaster	40037	FB:FBgn0036806
Drosophila melanogaster	41272	FB:FBgn0037817
Drosophila melanogaster	42293	FB:FBgn0038680
Drosophila melanogaster	42294	FB:FBgn0038681
Drosophila melanogaster	246648	FB:FBgn0050489
Drosophila melanogaster	2768720	FB:FBgn0053503

GlyTouCan

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GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements