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Aliases for CH25H Gene

Aliases for CH25H Gene

  • Cholesterol 25-Hydroxylase 2 3 3 5
  • Cholesterol 25-Monooxygenase 3 4
  • H25OH 3 4
  • EC 1.14.99.38 4
  • C25H 3

External Ids for CH25H Gene

Previous GeneCards Identifiers for CH25H Gene

  • GC10M089847
  • GC10M090187
  • GC10M091096
  • GC10M090630
  • GC10M090955
  • GC10M084600

Summaries for CH25H Gene

Entrez Gene Summary for CH25H Gene

  • 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]

GeneCards Summary for CH25H Gene

CH25H (Cholesterol 25-Hydroxylase) is a Protein Coding gene. Diseases associated with CH25H include Lassa Fever. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and steroid hydroxylase activity. An important paralog of this gene is MSMO1.

UniProtKB/Swiss-Prot for CH25H Gene

  • Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes (PubMed:9852097). Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing. In testis, production of 25-hydroxycholesterol by macrophages may play a role in Leydig cell differentiation.

Additional gene information for CH25H Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CH25H Gene

Genomics for CH25H Gene

GeneHancer (GH) Regulatory Elements for CH25H Gene

Promoters and enhancers for CH25H Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J089206 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 655.2 -0.2 -191 2.1 SIN3A KLF14 ZEB1 ZNF335 GLIS2 SCRT2 SP3 ZBTB11 ZNF398 ZNF610 CH25H FAS LIPA LIPK GC10P089210
GH10J088988 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 9.9 +214.1 214072 8.6 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 ZNF2 IRF4 YY1 ZNF213 FAS ACTA2 FAS-AS1 ENSG00000275693 ENSG00000240996 ACTA2-AS1 CH25H GC10M088853
GH10J089241 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -35.1 -35131 2.9 FOXA2 FEZF1 BATF IRF4 RARA ETS1 IKZF2 RUNX3 CREM RXRA LIPA ANKRD22 ENSG00000232110 IFIT1B CH25H IFIT3 IFIT5 IFIT2 GC10P089210 GC10M089235
GH10J089086 Enhancer 1.2 FANTOM5 Ensembl ENCODE 13.1 +120.4 120414 2.3 BRD4 USF1 ATF1 NFRKB MAX CEBPG IRF9 FOSL1 CTBP1 ZNF766 FAS CH25H LIPA GC10P089071 GC10P089110
GH10J088999 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11 +206.2 206239 3.8 PKNOX1 CEBPB NR2F2 ATF4 EED ZNF341 IKZF1 ZNF24 RUNX3 BCLAF1 GC10M088853 FAS CH25H ACTA2-AS1 FAS-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CH25H on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CH25H gene promoter:

Genomic Locations for CH25H Gene

Genomic Locations for CH25H Gene
chr10:89,205,629-89,207,314
(GRCh38/hg38)
Size:
1,686 bases
Orientation:
Minus strand
chr10:90,965,694-90,967,071
(GRCh37/hg19)

Genomic View for CH25H Gene

Genes around CH25H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CH25H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CH25H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CH25H Gene

Proteins for CH25H Gene

  • Protein details for CH25H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95992-CH25H_HUMAN
    Recommended name:
    Cholesterol 25-hydroxylase
    Protein Accession:
    O95992
    Secondary Accessions:
    • B2RBY3

    Protein attributes for CH25H Gene

    Size:
    272 amino acids
    Molecular mass:
    31745 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available

neXtProt entry for CH25H Gene

Post-translational modifications for CH25H Gene

Other Protein References for CH25H Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CH25H Gene

Domains & Families for CH25H Gene

Gene Families for CH25H Gene

Protein Domains for CH25H Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CH25H Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95992

UniProtKB/Swiss-Prot:

CH25H_HUMAN :
  • Belongs to the sterol desaturase family.
Family:
  • Belongs to the sterol desaturase family.
genes like me logo Genes that share domains with CH25H: view

Function for CH25H Gene

Molecular function for CH25H Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes (PubMed:9852097). Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing. In testis, production of 25-hydroxycholesterol by macrophages may play a role in Leydig cell differentiation.
UniProtKB/Swiss-Prot CatalyticActivity:
Cholesterol + AH(2) + O(2) = 25-hydroxycholesterol + A + H(2)O.
GENATLAS Biochemistry:
cholesterol 25-hydrolase,member of a small family of enzymes with diiron cofactors,potent oxysterol regulator of lipid metabolism

Enzyme Numbers (IUBMB) for CH25H Gene

Phenotypes From GWAS Catalog for CH25H Gene

Gene Ontology (GO) - Molecular Function for CH25H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000254 C-4 methylsterol oxidase activity IBA --
GO:0001567 cholesterol 25-hydroxylase activity ISS --
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity TAS --
genes like me logo Genes that share ontologies with CH25H: view
genes like me logo Genes that share phenotypes with CH25H: view

Animal Models for CH25H Gene

MGI Knock Outs for CH25H:

Animal Model Products

miRNA for CH25H Gene

miRTarBase miRNAs that target CH25H

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CH25H Gene

Localization for CH25H Gene

Subcellular locations from UniProtKB/Swiss-Prot for CH25H Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CH25H gene
Compartment Confidence
cytosol 4
plasma membrane 3
endoplasmic reticulum 3

Gene Ontology (GO) - Cellular Components for CH25H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IBA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CH25H: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CH25H Gene

Pathways & Interactions for CH25H Gene

genes like me logo Genes that share pathways with CH25H: view

Pathways by source for CH25H Gene

Gene Ontology (GO) - Biological Process for CH25H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 9852097
GO:0006694 steroid biosynthetic process IEA --
GO:0006699 bile acid biosynthetic process TAS --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA,IBA --
genes like me logo Genes that share ontologies with CH25H: view

No data available for SIGNOR curated interactions for CH25H Gene

Drugs & Compounds for CH25H Gene

(4) Drugs for CH25H Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholesterol Approved, Investigational Pharma Agonist 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
25-Hydroxycholesterol Pharma Agonist 0

(1) Additional Compounds for CH25H Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
genes like me logo Genes that share compounds with CH25H: view

Transcripts for CH25H Gene

mRNA/cDNA for CH25H Gene

(22) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CH25H Gene

Cholesterol 25-hydroxylase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CH25H Gene

No ASD Table

Relevant External Links for CH25H Gene

GeneLoc Exon Structure for
CH25H
ECgene alternative splicing isoforms for
CH25H

Expression for CH25H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CH25H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CH25H Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.8).

NURSA nuclear receptor signaling pathways regulating expression of CH25H Gene:

CH25H

SOURCE GeneReport for Unigene cluster for CH25H Gene:

Hs.47357

Evidence on tissue expression from TISSUES for CH25H Gene

  • Lung(4.2)
  • Heart(4.1)
genes like me logo Genes that share expression patterns with CH25H: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CH25H Gene

Orthologs for CH25H Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CH25H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CH25H 34 33
  • 99.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CH25H 34 33
  • 86.27 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ch25h 16 34 33
  • 81.98 (n)
rat
(Rattus norvegicus)
Mammalia Ch25h 33
  • 80.02 (n)
dog
(Canis familiaris)
Mammalia CH25H 34 33
  • 78.64 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CH25H 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CH25H 34 33
  • 61.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CH25H 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494906 33
  • 62.88 (n)
zebrafish
(Danio rerio)
Actinopterygii ch25h 33
  • 62.31 (n)
CH25H 34
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11162 34
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F35C8.5 34 35
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG25 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
ManyToMany
Species where no ortholog for CH25H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CH25H Gene

ENSEMBL:
Gene Tree for CH25H (if available)
TreeFam:
Gene Tree for CH25H (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CH25H: view image

Paralogs for CH25H Gene

Paralogs for CH25H Gene

genes like me logo Genes that share paralogs with CH25H: view

Variants for CH25H Gene

Sequence variations from dbSNP and Humsavar for CH25H Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1002840588 -- 89,208,663(-) T/C upstream_transcript_variant
rs1002896433 -- 89,208,455(-) C/G upstream_transcript_variant
rs1003911504 -- 89,206,263(-) C/G 3_prime_UTR_variant
rs1004805134 -- 89,205,958(-) T/C 3_prime_UTR_variant
rs1005342576 -- 89,207,586(-) T/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CH25H Gene

Variant ID Type Subtype PubMed ID
dgv118n27 CNV loss 19166990
dgv951n100 CNV loss 25217958
esv2759775 CNV loss 17122850
nsv1038123 CNV loss 25217958
nsv437127 CNV loss 16327808
nsv517170 CNV loss 19592680
nsv551858 CNV loss 21841781
nsv831944 CNV gain 17160897

Variation tolerance for CH25H Gene

Residual Variation Intolerance Score: 30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CH25H Gene

Human Gene Mutation Database (HGMD)
CH25H
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CH25H

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CH25H Gene

Disorders for CH25H Gene

MalaCards: The human disease database

(1) MalaCards diseases for CH25H Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
lassa fever
  • lf
- elite association - COSMIC cancer census association via MalaCards
Search CH25H in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CH25H

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CH25H: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CH25H Gene

Publications for CH25H Gene

  1. Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease. (PMID: 16157450) Shibata N … Rogaeva E (Neuroscience letters 2006) 3 4 22 44 58
  2. Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease. (PMID: 15465627) Riemenschneider M … Kurz A (Neurobiology of aging 2004) 3 4 22 44 58
  3. cDNA cloning of mouse and human cholesterol 25-hydroxylases, polytopic membrane proteins that synthesize a potent oxysterol regulator of lipid metabolism. (PMID: 9852097) Lund EG … Russell DW (The Journal of biological chemistry 1998) 2 3 4 22 58
  4. Cholesterol 25-hydroxylase on chromosome 10q is a susceptibility gene for sporadic Alzheimer's disease. (PMID: 16909003) Papassotiropoulos A … Nitsch RM (Neuro-degenerative diseases 2005) 3 22 44 58
  5. Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study. (PMID: 20413850) Laumet G … Lambert JC (Journal of Alzheimer's disease : JAD 2010) 3 44 58

Products for CH25H Gene

Sources for CH25H Gene

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