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    CH25H cholesterol 25-hydroxylase [ Homo sapiens ]

    Gene ID: 9023, updated on 21-Jan-2012
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    Summary

    Official Symbol
    CH25Hprovided by HGNC
    Official Full Name
    cholesterol 25-hydroxylaseprovided by HGNC
    Primary source
    HGNC:1907
    See related
    Ensembl:ENSG00000138135; HPRD:05183; MIM:604551; Vega:OTTHUMG00000018705
    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]
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    Genomic context

    Location :
    10q23
    Sequence :
    Chromosome: 10; NC_000010.10 (90965694..90967071, complement)
    See CH25H in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene microRNA 4679-2 Neighboring gene microRNA 4679-1 Neighboring gene zinc finger RNA binding protein pseudogene Neighboring gene lipase A, lysosomal acid, cholesterol esterase Neighboring gene interferon-induced protein with tetratricopeptide repeats 2

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Denny JC, et al. Circulation, 2010 Nov 16. PMID 21041692.
    2. Cholesterol 25-hydroxylase production by dendritic cells and macrophages is regulated by type I interferons. Park K, et al. J Leukoc Biol, 2010 Dec. PMID 20699362.
    3. Intermediate phenotypes identify divergent pathways to Alzheimer's disease. Shulman JM, et al. PLoS One, 2010 Jun 21. PMID 20574532.
    4. Capillary cerebral amyloid angiopathy identifies a distinct APOE epsilon4-associated subtype of sporadic Alzheimer's disease. Thal DR, et al. Acta Neuropathol, 2010 Aug. PMID 20535486.
    5. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Corneveaux JJ, et al. Hum Mol Genet, 2010 Aug 15. PMID 20534741.

    See all (17) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Cholesterol 25-hydroxylase production by dendritic cells and macrophages is regulated by type I interferons.
      Title: Cholesterol 25-hydroxylase production by dendritic cells and macrophages is regulated by type I interferons.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.
    3. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Assessment of Alzheimer's disease case-control associations using family-based methods.
    4. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Intermediate phenotypes identify divergent pathways to Alzheimer's disease.
    6. Based on the results of genome-wide screens, along with biological studies, we selected three genes as candidates for AD risk factors: ATP-binding cassette transporter A1 (ABCA1), cholesterol 25-hydroxylase (CH25H) and cholesterol 24-hydroxylase (CH24H).
      Title: Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    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.

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

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    General gene information

    Markers

    Genotypes

    Homology

    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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cholesterol 25-hydroxylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    steroid hydroxylase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    bile acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    sterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    cholesterol 25-hydroxylase
    Names
    cholesterol 25-hydroxylase
    h25OH
    cholesterol 25-monooxygenase
    NP_003947.1
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    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_003956.3 → NP_003947.1  cholesterol 25-hydroxylase

      Status: REVIEWED

      Source sequence(s)
      BC017843
      Consensus CDS
      CCDS7400.1
      UniProtKB/Swiss-Prot
      O95992
      Related
      ENSP00000360918, OTTHUMP00000020057, ENST00000371852, OTTHUMT00000049291
      Conserved Domains (1) summary
      cl01132
      Location:139 – 244
      Blast Score: 131
      FA_hydroxylase; Fatty acid hydroxylase superfamily

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      90965694..90967071, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      84600155..84601532, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF059212.1 AAC97481.1
    genomic AL513533.15 CAI13519.1
    genomic CH471066.2 EAW50146.1
    genomic FB336678.1 CAR81282.1
    genomic HH768017.1 CBX84760.1
    mRNA AF059214.1 AAC97483.1
    mRNA AK314865.1 BAG37380.1
    mRNA BC017843.1 AAH17843.1
    mRNA BC072430.1 AAH72430.1
    other-genetic DQ892026.2 ABM82952.1
    other-genetic DQ895218.2 ABM86144.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    O95992.1 GenPept UniProtKB/Swiss-Prot:O95992
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
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