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

Gene ID: 9023, updated on 30-Jun-2019

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
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

Genomic context

See CH25H in Genome Data Viewer
Location:
10q23.31
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (89205629..89207317, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90965694..90967071, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene zinc finger RNA binding protein pseudogene Neighboring gene uncharacterized LOC105378418 Neighboring gene lipase A, lysosomal acid type Neighboring gene uncharacterized LOC105378419

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI 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.
NHGRI GWA Catalog
Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.
NHGRI GWA 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 BioSystems

  • Bile acid and bile salt metabolism, organism-specific biosystem (from REACTOME)
    Bile acid and bile salt metabolism, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily. Newly synthesized bile salts are secreted into the bile and released into the small intestine where they emulsi...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Primary bile acid biosynthesis, organism-specific biosystem (from KEGG)
    Primary bile acid biosynthesis, organism-specific biosystemBile acids are steroid carboxylic acids derived from cholesterol in vertebrates. The primary bile acids, cholic acid and chenodeoxycholic acid, are synthesized in the liver and conjugated with taurin...
  • Primary bile acid biosynthesis, conserved biosystem (from KEGG)
    Primary bile acid biosynthesis, conserved biosystemBile acids are steroid carboxylic acids derived from cholesterol in vertebrates. The primary bile acids, cholic acid and chenodeoxycholic acid, are synthesized in the liver and conjugated with taurin...
  • Synthesis of bile acids and bile salts, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily (Russell 2003). The major pathway for bile salt synthesis in the liver begins with the conversion of cholesterol...

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
C-4 methylsterol oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol 25-hydroxylase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
steroid hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
B cell chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
cholesterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
sterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    O95992
    Related
    ENSP00000360918.2, ENST00000371852.3
    Conserved Domains (1) summary
    pfam04116
    Location:135263
    FA_hydroxylase; Fatty acid hydroxylase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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