CH25H cholesterol 25-hydroxylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CH25Hprovided by HGNC
Official Full Name: cholesterol 25-hydroxylaseprovided by HGNC
Primary source: HGNC:HGNC:1907
See related: Ensembl:ENSG00000138135 MIM:604551; AllianceGenome:HGNC:1907
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C25H
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 a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 10q23.31

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (89205629..89207317, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (90089526..90091214, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (90965386..90967074, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CH25H Promotes Autophagy and Regulates the Malignant Progression of Laryngeal Squamous Cell Carcinoma Through the PI3K-AKT Pathway.
Title: CH25H Promotes Autophagy and Regulates the Malignant Progression of Laryngeal Squamous Cell Carcinoma Through the PI3K-AKT Pathway.
Cholesterol 25-Hydroxylase Protects Against Diabetic Kidney Disease by Regulating ADP Ribosylation Factor 4.
Title: Cholesterol 25-Hydroxylase Protects Against Diabetic Kidney Disease by Regulating ADP Ribosylation Factor 4.
Hypoxia-induced ALKBH5 aggravates synovial aggression and inflammation in rheumatoid arthritis by regulating the m6A modification of CH25H.
Title: Hypoxia-induced ALKBH5 aggravates synovial aggression and inflammation in rheumatoid arthritis by regulating the m6A modification of CH25H.
Expression Pattern of Cholesterol 25-Hydroxylase and Serum Level of 25-Hydroxycholesterol and Relevant Inflammatory Cytokines in Patients with Varying Disease Severity of COVID-19.
Title: Expression Pattern of Cholesterol 25-Hydroxylase and Serum Level of 25-Hydroxycholesterol and Relevant Inflammatory Cytokines in Patients with Varying Disease Severity of COVID-19.
Research progress on the mechanism of cholesterol-25-hydroxylase in intestinal immunity.
Title: Research progress on the mechanism of cholesterol-25-hydroxylase in intestinal immunity.
The role of cholesterol 25-hydroxylase in viral infections: Mechanisms and implications.
Title: The role of cholesterol 25-hydroxylase in viral infections: Mechanisms and implications.
Involvement of CCL2 and CH25H Genes and TNF signaling pathways in mast cell activation and pathogenesis of chronic spontaneous urticaria.
Title: Involvement of CCL2 and CH25H Genes and TNF signaling pathways in mast cell activation and pathogenesis of chronic spontaneous urticaria.
Tumor-Suppressive and Immune-Stimulating Roles of Cholesterol 25-hydroxylase in Pancreatic Cancer Cells.
Title: Tumor-Suppressive and Immune-Stimulating Roles of Cholesterol 25-hydroxylase in Pancreatic Cancer Cells.
Cholesterol 25-hydroxylase expression following immune activation in response to SARS-CoV-2 infection.
Title: Cholesterol 25-hydroxylase expression following immune activation in response to SARS-CoV-2 infection.
Cholesterol 25-hydroxylase (CH25H) as a promoter of adipose tissue inflammation in obesity and diabetes.
Title: Cholesterol 25-hydroxylase (CH25H) as a promoter of adipose tissue inflammation in obesity and diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of cholesterol 25-hydroxylase (CH25H) in primary human brain microvascular endothelial cells	PubMed
matrix	gag	HIV-1 MA increases CH25H mRNA expression in HepG2 cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables C-4 methylsterol oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol 25-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol 25-hydroxylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables steroid hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in B cell chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fusion of virus membrane with host plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in response to type I interferon	IDA Inferred from Direct Assay more info	PubMed
involved_in sterol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cholesterol 25-hydroxylase

Names: cholesterol 25-monooxygenase; h25OH

NP_003947.1

EC 1.14.99.38

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.