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O95992 (CH25H_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cholesterol 25-hydroxylase

EC=1.14.99.38
Alternative name(s):
Cholesterol 25-monooxygenase
Short name=h25OH
Gene names
Name:CH25H
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length272 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. 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. Ref.1

Catalytic activity

Cholesterol + AH2 + O2 = 25-hydroxycholesterol + A + H2O.

Cofactor

Iron.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.

Post-translational modification

N-glycosylated. Ref.1

Sequence similarities

Belongs to the sterol desaturase family.

Ontologies

Keywords
   Biological processLipid biosynthesis
Lipid metabolism
Steroid biosynthesis
Steroid metabolism
Sterol biosynthesis
Sterol metabolism
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   LigandIron
Metal-binding
   Molecular functionMonooxygenase
Oxidoreductase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbile acid biosynthetic process

Traceable author statement. Source: Reactome

bile acid metabolic process

Traceable author statement. Source: Reactome

cholesterol metabolic process

Inferred from electronic annotation. Source: Ensembl

fatty acid biosynthetic process

Inferred from electronic annotation. Source: InterPro

lipid metabolic process

Traceable author statement Ref.1. Source: ProtInc

small molecule metabolic process

Traceable author statement. Source: Reactome

sterol biosynthetic process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytosol

Traceable author statement. Source: Reactome

endoplasmic reticulum membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functioncholesterol 25-hydroxylase activity

Inferred from electronic annotation. Source: UniProtKB-EC

iron ion binding

Inferred from electronic annotation. Source: InterPro

steroid hydroxylase activity

Traceable author statement. Source: Reactome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 272272Cholesterol 25-hydroxylase
PRO_0000226801

Regions

Transmembrane38 – 5821Helical; Potential
Transmembrane84 – 10421Helical; Potential
Transmembrane121 – 14121Helical; Potential
Motif142 – 1465Histidine box-1
Motif157 – 1615Histidine box-2
Motif238 – 2447Histidine box-3

Amino acid modifications

Glycosylation51N-linked (GlcNAc...) Potential
Glycosylation1631N-linked (GlcNAc...) Potential
Glycosylation1891N-linked (GlcNAc...) Potential

Natural variations

Natural variant1331L → P.
Corresponds to variant rs17117295 [ dbSNP | Ensembl ].
VAR_048899

Sequences

Sequence LengthMass (Da)Tools
O95992 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 0DF46BC21802008B

FASTA27231,745
        10         20         30         40         50         60 
MSCHNCSDPQ VLCSSGQLFL QPLWDHLRSW EALLQSPFFP VIFSITTYVG FCLPFVVLDI 

        70         80         90        100        110        120 
LCSWVPALRR YKIHPDFSPS AQQLLPCLGQ TLYQHVMFVF PVTLLHWARS PALLPHEAPE 

       130        140        150        160        170        180 
LLLLLHHILF CLLLFDMEFF VWHLLHHKVP WLYRTFHKVH HQNSSSFALA TQYMSVWELF 

       190        200        210        220        230        240 
SLGFFDMMNV TLLGCHPLTT LTFHVVNIWL SVEDHSGYNF PWSTHRLVPF GWYGGVVHHD 

       250        260        270 
LHHSHFNCNF APYFTHWDKI LGTLRTASVP AR 

« Hide

References

« Hide 'large scale' references
[1]"cDNA cloning of mouse and human cholesterol 25-hydroxylases, polytopic membrane proteins that synthesize a potent oxysterol regulator of lipid metabolism."
Lund E.G., Kerr T.A., Sakai J., Li W.-P., Russell D.W.
J. Biol. Chem. 273:34316-34327(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, GLYCOSYLATION.
Tissue: Lung.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Heart.
[3]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lung and Ovary.
[6]"Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease."
Riemenschneider M., Mahmoodzadeh S., Eisele T., Klopp N., Schwarz S., Wagenpfeil S., Diehl J., Mueller U., Foerstl H., Illig T., Kurz A.
Neurobiol. Aging 25:1305-1308(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: LACK OF INVOLVEMENT IN ALZHEIMER DISEASE.
[7]"Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease."
Shibata N., Kawarai T., Lee J.H., Lee H.-S., Shibata E., Sato C., Liang Y., Duara R., Mayeux R.P., St George-Hyslop P.H., Rogaeva E.
Neurosci. Lett. 391:142-146(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: LACK OF INVOLVEMENT IN ALZHEIMER DISEASE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF059212 Genomic DNA. Translation: AAC97481.1.
AF059214 mRNA. Translation: AAC97483.1.
AK314865 mRNA. Translation: BAG37380.1.
AL513533 Genomic DNA. Translation: CAI13519.1.
CH471066 Genomic DNA. Translation: EAW50146.1.
BC017843 mRNA. Translation: AAH17843.1.
BC072430 mRNA. Translation: AAH72430.1.
RefSeqNP_003947.1. NM_003956.3.
UniGeneHs.47357.

3D structure databases

ProteinModelPortalO95992.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000360918.

Proteomic databases

PaxDbO95992.
PRIDEO95992.

Protocols and materials databases

DNASU9023.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371852; ENSP00000360918; ENSG00000138135.
GeneID9023.
KEGGhsa:9023.
UCSCuc001kfz.3. human.

Organism-specific databases

CTD9023.
GeneCardsGC10M090955.
HGNCHGNC:1907. CH25H.
MIM604551. gene.
neXtProtNX_O95992.
PharmGKBPA26443.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3000.
HOGENOMHOG000015767.
HOVERGENHBG080944.
InParanoidO95992.
KOK10223.
OMAWHVLHHK.
OrthoDBEOG7288S0.
PhylomeDBO95992.
TreeFamTF353265.

Enzyme and pathway databases

BRENDA1.14.99.38. 2681.
ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeO95992.
CleanExHS_CH25H.
GenevestigatorO95992.

Family and domain databases

InterProIPR006694. Fatty_acid_hydroxylase.
[Graphical view]
PfamPF04116. FA_hydroxylase. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi9023.
NextBio33805.
PROO95992.
SOURCESearch...

Entry information

Entry nameCH25H_HUMAN
AccessionPrimary (citable) accession number: O95992
Secondary accession number(s): B2RBY3
Entry history
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: May 1, 1999
Last modified: April 16, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM