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

    Gene ID: 9023, updated on 21-Dec-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
    109.20191205 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 Functions

    What'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 PubChem

    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, ENST00000371852.4
      Conserved Domains (1) summary
      pfam04116
      Location:135263
      FA_hydroxylase; Fatty acid hydroxylase superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

    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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