U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 9023, updated on 17-Sep-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CH25H in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene zinc finger RNA binding protein pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3735 Neighboring gene uncharacterized LOC105378418 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3736 Neighboring gene lipase A, lysosomal acid type Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:90994669-90995170 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:90995171-90995670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3738 Neighboring gene uncharacterized LOC124902477 Neighboring gene uncharacterized LOC105378419

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.
EBI GWAS Catalog

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

Preferred Names
cholesterol 25-hydroxylase
Names
cholesterol 25-monooxygenase
h25OH
NP_003947.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_003956.4NP_003947.1  cholesterol 25-hydroxylase

    See identical proteins and their annotated locations for NP_003947.1

    Status: REVIEWED

    Source sequence(s)
    AL513533, BC017843
    Consensus CDS
    CCDS7400.1
    UniProtKB/Swiss-Prot
    B2RBY3, O95992
    Related
    ENSP00000360918.2, ENST00000371852.4
    Conserved Domains (1) summary
    pfam04116
    Location:135263
    FA_hydroxylase; Fatty acid hydroxylase superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    89205629..89207317 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    90089526..90091214 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)