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O95992

- CH25H_HUMAN

UniProt

O95992 - CH25H_HUMAN

Protein

Cholesterol 25-hydroxylase

Gene

CH25H

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

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

    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...)Sequence Analysis
    Glycosylationi163 – 1631N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi189 – 1891N-linked (GlcNAc...)Sequence Analysis

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei38 – 5821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei84 – 10421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei121 – 14121HelicalSequence AnalysisAdd
    BLAST

    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.Curated

    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

    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: October 1, 2014
    This is version 107 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