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Aliases for CH25H Gene

Aliases for CH25H Gene

  • Cholesterol 25-Hydroxylase 2 3 4 5
  • Cholesterol 25-Monooxygenase 3 4
  • EC 1.14.99.38 4 56
  • H25OH 3 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 Synthesis of bile acids and bile salts and Metabolism. 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 605.5 +0.5 513 3.6 ZSCAN21 KLF14 GLIS2 ZIC2 ZNF639 ZNF501 ZNF341 ZNF561 MNT SCRT2 CH25H FAS LIPA LIPK GC10M089173
GH10J088946 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.7 +256.6 256626 7 SP1 MZF1 CREB1 POLR2A PRDM10 ZNF766 ZBTB17 GABPA YY1 NR2C2 ACTA2 FAS CH25H STAMBPL1 ANKRD22 LIPF ACTA2-AS1 GC10M088853
GH10J089244 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.5 -41.0 -41027 8.7 NKRF POLR2A ZNF24 ZBTB7A ELF1 SP1 SP5 PRDM1 GLIS2 ZBTB33 LIPA KIF20B ENSG00000235100 ENSG00000232110 IFIT1B CH25H FAS GC10P089210 IFIT2 GC10M089235
GH10J088988 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.9 +214.1 214072 8.6 ZNF652 NKRF POLR2A CEBPG ZNF384 ZNF687 ZSCAN21 ZNF24 MAFK ZBTB7A FAS ACTA2 ENSG00000286116 FAS-AS1 ENSG00000275693 ENSG00000240996 ACTA2-AS1 CH25H GC10M088853
GH10J089241 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -35.1 -35131 2.9 SP1 MNT CEBPG CREM ZNF384 IKZF1 RXRA IKZF2 ZIC2 CEBPA LIPA ANKRD22 ENSG00000232110 IFIT1B CH25H IFIT3 IFIT5 IFIT2 GC10P089210 GC10M089235
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CH25H on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CH25H gene promoter:
  • AML1a
  • ATF-2
  • c-Jun
  • HEN1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU3F1

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)
Size:
1,378 bases
Orientation:
Minus strand

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

Selected DME Specific Peptides for CH25H Gene

O95992:
  • APYFTHWDK
  • LHHKVPWLYRTFHK
  • WLSVEDH
  • QLLPCLG
  • HRLVPFGWYGGV

Post-translational modifications for CH25H Gene

Other Protein References for CH25H Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CH25H
  • Santa Cruz Biotechnology (SCBT) Antibodies for CH25H

Domains & Families for CH25H Gene

Gene Families for CH25H Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for CH25H Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CH25H Gene

GenScript: Design optimal peptide antigens:
  • Cholesterol 25-monooxygenase (CH25H_HUMAN)

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:
Reaction=AH2 + cholesterol + O2 = 25-hydroxycholesterol + A + H2O; Xref=Rhea:RHEA:21104, ChEBI:CHEBI:13193, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16113, ChEBI:CHEBI:17499, ChEBI:CHEBI:42977; EC=1.14.99.38; Evidence=. ;.
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 21873635
GO:0001567 cholesterol 25-hydroxylase activity ISS --
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity TAS,IBA 21873635
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:
  • Ch25h Ch25h<tm1.1(KOMP)Vlcg>
  • Ch25h Ch25h<tm1Rus>

Animal Model Products

CRISPR Products

miRNA for CH25H Gene

miRTarBase miRNAs that target CH25H

Clone Products

  • Applied Biological Materials (abm): Clones for CH25H - Now 50% OFF >
  • * CH25H as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CH25H tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 21873635
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
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 21873635
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

(5) 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
Iron Approved, Experimental Pharma 1426
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
25-Hydroxycholesterol Pharma Agonist 0
genes like me logo Genes that share compounds with CH25H: view

Transcripts for CH25H Gene

mRNA/cDNA for CH25H Gene

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

Unigene Clusters for CH25H Gene

Cholesterol 25-hydroxylase:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for CH25H - Now 50% OFF >
  • * CH25H as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CH25H tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 35 34
  • 99.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CH25H 35 34
  • 86.27 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ch25h 17 35 34
  • 81.98 (n)
rat
(Rattus norvegicus)
Mammalia Ch25h 34
  • 80.02 (n)
dog
(Canis familiaris)
Mammalia CH25H 35 34
  • 78.64 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CH25H 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CH25H 35 34
  • 61.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CH25H 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494906 34
  • 62.88 (n)
zebrafish
(Danio rerio)
Actinopterygii ch25h 34
  • 62.31 (n)
CH25H 35
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11162 35
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F35C8.5 35 36
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG25 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CH25H
Human Gene Mutation Database (HGMD)
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 23 45 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 23 45 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 23 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 23 45 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 45 58

Products for CH25H Gene

Sources for CH25H Gene

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