CH25H (cholesterol 25-hydroxylase)

Gene

• Entrez ID: 9023
• Gene name: Cholesterol 25-hydroxylase
• Gene symbol: CH25H
• Synonyms (NCBI Gene): C25H
• Chromosome: 10
• Chromosome location: 10q23.31
• Summary: This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029826	hsa-miR-26b-5p	Microarray	19088304
MIRT888381	hsa-miR-1236	CLIP-seq
MIRT888382	hsa-miR-124	CLIP-seq
MIRT888383	hsa-miR-1297	CLIP-seq
MIRT888384	hsa-miR-1298	CLIP-seq
MIRT888385	hsa-miR-26a	CLIP-seq
MIRT888386	hsa-miR-26b	CLIP-seq
MIRT888387	hsa-miR-376a	CLIP-seq
MIRT888388	hsa-miR-376b	CLIP-seq
MIRT888389	hsa-miR-4465	CLIP-seq
MIRT888390	hsa-miR-4711-5p	CLIP-seq
MIRT888391	hsa-miR-4753-3p	CLIP-seq
MIRT888392	hsa-miR-4803	CLIP-seq
MIRT888393	hsa-miR-488	CLIP-seq
MIRT888394	hsa-miR-506	CLIP-seq
MIRT888395	hsa-miR-520d-5p	CLIP-seq
MIRT888396	hsa-miR-524-5p	CLIP-seq
MIRT888397	hsa-miR-548an	CLIP-seq
MIRT888398	hsa-miR-577	CLIP-seq
MIRT888399	hsa-miR-584	CLIP-seq
MIRT888400	hsa-miR-595	CLIP-seq
MIRT888382	hsa-miR-124	CLIP-seq
MIRT2199801	hsa-miR-4274	CLIP-seq
MIRT2199802	hsa-miR-4740-3p	CLIP-seq
MIRT888393	hsa-miR-488	CLIP-seq
MIRT888394	hsa-miR-506	CLIP-seq
MIRT888397	hsa-miR-548an	CLIP-seq
MIRT2199803	hsa-miR-924	CLIP-seq
MIRT2678077	hsa-miR-1283	CLIP-seq
MIRT2678078	hsa-miR-1303	CLIP-seq
MIRT2678079	hsa-miR-3647-3p	CLIP-seq
MIRT2678080	hsa-miR-376c	CLIP-seq
MIRT2678081	hsa-miR-4799-5p	CLIP-seq
MIRT2678082	hsa-miR-494	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000254	Function	C-4 methylsterol oxidase activity	IBA
GO:0001567	Function	Cholesterol 25-hydroxylase activity	IDA	32944968
GO:0001567	Function	Cholesterol 25-hydroxylase activity	IEA
GO:0001567	Function	Cholesterol 25-hydroxylase activity	ISS
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	TAS	9852097
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008203	Process	Cholesterol metabolic process	IDA	33239446
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008395	Function	Steroid hydroxylase activity	IBA
GO:0008395	Function	Steroid hydroxylase activity	IEA
GO:0008395	Function	Steroid hydroxylase activity	TAS	9852097
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016126	Process	Sterol biosynthetic process	IBA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0034340	Process	Response to type I interferon	IDA	33239446
GO:0035754	Process	B cell chemotaxis	IEA
GO:0035754	Process	B cell chemotaxis	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0090206	Process	Negative regulation of cholesterol metabolic process	IEA
GO:1903914	Process	Negative regulation of fusion of virus membrane with host plasma membrane	IDA	32944968, 33239446

Other IDs

• MIM: 604551
• HGNC: 1907
• e!Ensembl: ENSG00000138135

Protein

• UniProt ID: O95992
• Protein name: Cholesterol 25-hydroxylase (EC 1.14.99.38) (Cholesterol 25-monooxygenase) (h25OH)
• Protein function: Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes (PubMed:9852097). Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermedi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04116	FA_hydroxylase	128 → 263	Fatty acid hydroxylase superfamily	Family

• Sequence:

  MSCHNCSDPQVLCSSGQLFLQPLWDHLRSWEALLQSPFFPVIFSITTYVGFCLPFVVLDI
  LCSWVPALRRYKIHPDFSPSAQQLLPCLGQTLYQHVMFVFPVTLLHWARSPALLPHEAPE
  LLLLLHHILFCLLLFDMEFFVWHLLHHKVPWLYRTFHKVHHQNSSSFALATQYMSVWELF
  SLGFFDMMNVTLLGCHPLTTLTFHVVNIWLSVEDHSGYNFPWSTHRLVPFGWYGGVVHHD
  LHHSHFNCNFAPYFTHWDKILGTLRTASVPAR

• Sequence length: 272

Pathways

KEGG:

Primary bile acid biosynthesis
Efferocytosis

Reactome:

Synthesis of bile acids and bile salts

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
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	16909003, 18830724	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	17373700		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23485764, 28794002		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28794002		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23910573	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34320033	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	23485764, 29674392		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	27878760		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	22911757	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30742043		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30728500		★☆☆☆☆ Found in Text Mining only
Dermatitis Allergic Contact	Allergic contact dermatitis	Pubtator	35028126	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Contact	Contact dermatitis	Pubtator	33318199	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28299341		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28299341		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23541792		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23541792	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23541792		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25903345	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	24987033		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26577244		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26577244	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	38341328	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	39438997	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30645975		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30728500		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28314593		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25456971, 26857497		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	26857497	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	26577244	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	36863716	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	26577244	Associate	★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	26857497		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32149080	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	28631596		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	29674392		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	30524435		★☆☆☆☆ Found in Text Mining only