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O95992

- CH25H_HUMAN

UniProt

O95992 - CH25H_HUMAN

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Protein

Cholesterol 25-hydroxylase

Gene
CH25H
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

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

Cofactori

Iron.

GO - Molecular functioni

  1. cholesterol 25-hydroxylase activity Source: UniProtKB-EC
  2. iron ion binding Source: InterPro
  3. steroid hydroxylase activity Source: Reactome

GO - Biological processi

  1. bile acid biosynthetic process Source: Reactome
  2. bile acid metabolic process Source: Reactome
  3. cholesterol metabolic process Source: Ensembl
  4. fatty acid biosynthetic process Source: InterPro
  5. lipid metabolic process Source: ProtInc
  6. small molecule metabolic process Source: Reactome
  7. sterol biosynthetic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

Keywords - Ligandi

Iron, Metal-binding

Enzyme and pathway databases

BRENDAi1.14.99.38. 2681.
ReactomeiREACT_11054. Synthesis of bile acids and bile salts.

Names & Taxonomyi

Protein namesi
Recommended name:
Cholesterol 25-hydroxylase (EC:1.14.99.38)
Alternative name(s):
Cholesterol 25-monooxygenase
Short name:
h25OH
Gene namesi
Name:CH25H
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:1907. CH25H.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei38 – 5821Helical; Reviewed predictionAdd
BLAST
Transmembranei84 – 10421Helical; Reviewed predictionAdd
BLAST
Transmembranei121 – 14121Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  3. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26443.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 272272Cholesterol 25-hydroxylasePRO_0000226801Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi5 – 51N-linked (GlcNAc...) Reviewed prediction
Glycosylationi163 – 1631N-linked (GlcNAc...) Reviewed prediction
Glycosylationi189 – 1891N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO95992.
PRIDEiO95992.

Expressioni

Gene expression databases

BgeeiO95992.
CleanExiHS_CH25H.
GenevestigatoriO95992.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000360918.

Structurei

3D structure databases

ProteinModelPortaliO95992.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi142 – 1465Histidine box-1
Motifi157 – 1615Histidine box-2
Motifi238 – 2447Histidine box-3

Sequence similaritiesi

Belongs to the sterol desaturase family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG3000.
HOGENOMiHOG000015767.
HOVERGENiHBG080944.
InParanoidiO95992.
KOiK10223.
OMAiWHVLHHK.
OrthoDBiEOG7288S0.
PhylomeDBiO95992.
TreeFamiTF353265.

Family and domain databases

InterProiIPR006694. Fatty_acid_hydroxylase.
[Graphical view]
PfamiPF04116. FA_hydroxylase. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O95992-1 [UniParc]FASTAAdd to Basket

« Hide

MSCHNCSDPQ VLCSSGQLFL QPLWDHLRSW EALLQSPFFP VIFSITTYVG    50
FCLPFVVLDI LCSWVPALRR YKIHPDFSPS AQQLLPCLGQ TLYQHVMFVF 100
PVTLLHWARS PALLPHEAPE LLLLLHHILF CLLLFDMEFF VWHLLHHKVP 150
WLYRTFHKVH HQNSSSFALA TQYMSVWELF SLGFFDMMNV TLLGCHPLTT 200
LTFHVVNIWL SVEDHSGYNF PWSTHRLVPF GWYGGVVHHD LHHSHFNCNF 250
APYFTHWDKI LGTLRTASVP AR 272
Length:272
Mass (Da):31,745
Last modified:May 1, 1999 - v1
Checksum:i0DF46BC21802008B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331L → P.
Corresponds to variant rs17117295 [ dbSNP | Ensembl ].
VAR_048899

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS7400.1.
RefSeqiNP_003947.1. NM_003956.3.
UniGeneiHs.47357.

Genome annotation databases

EnsembliENST00000371852; ENSP00000360918; ENSG00000138135.
GeneIDi9023.
KEGGihsa:9023.
UCSCiuc001kfz.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS7400.1.
RefSeqi NP_003947.1. NM_003956.3.
UniGenei Hs.47357.

3D structure databases

ProteinModelPortali O95992.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000360918.

Proteomic databases

PaxDbi O95992.
PRIDEi O95992.

Protocols and materials databases

DNASUi 9023.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000371852 ; ENSP00000360918 ; ENSG00000138135 .
GeneIDi 9023.
KEGGi hsa:9023.
UCSCi uc001kfz.3. human.

Organism-specific databases

CTDi 9023.
GeneCardsi GC10M090955.
HGNCi HGNC:1907. CH25H.
MIMi 604551. gene.
neXtProti NX_O95992.
PharmGKBi PA26443.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3000.
HOGENOMi HOG000015767.
HOVERGENi HBG080944.
InParanoidi O95992.
KOi K10223.
OMAi WHVLHHK.
OrthoDBi EOG7288S0.
PhylomeDBi O95992.
TreeFami TF353265.

Enzyme and pathway databases

BRENDAi 1.14.99.38. 2681.
Reactomei REACT_11054. Synthesis of bile acids and bile salts.

Miscellaneous databases

GenomeRNAii 9023.
NextBioi 33805.
PROi O95992.
SOURCEi Search...

Gene expression databases

Bgeei O95992.
CleanExi HS_CH25H.
Genevestigatori O95992.

Family and domain databases

InterProi IPR006694. Fatty_acid_hydroxylase.
[Graphical view ]
Pfami PF04116. FA_hydroxylase. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiCH25H_HUMAN
AccessioniPrimary (citable) accession number: O95992
Secondary accession number(s): B2RBY3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: May 1, 1999
Last modified: September 3, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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