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Q15800

- MSMO1_HUMAN

UniProt

Q15800 - MSMO1_HUMAN

Protein

Methylsterol monooxygenase 1

Gene

MSMO1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Nov 1997)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    4,4-dimethyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O2 = 4-beta-hydroxymethyl-4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)+ + H2O.
    4-beta-hydroxymethyl-4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O2 = 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde + NAD(P)+ + 2 H2O.
    3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde + NAD(P)H + O2 = 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate + NAD(P)+ + H2O.

    Cofactori

    Iron.Curated

    Pathwayi

    GO - Molecular functioni

    1. C-4 methylsterol oxidase activity Source: ProtInc
    2. iron ion binding Source: InterPro

    GO - Biological processi

    1. cholesterol biosynthetic process Source: Reactome
    2. fatty acid biosynthetic process Source: InterPro
    3. fatty acid metabolic process Source: ProtInc
    4. small molecule metabolic process Source: Reactome
    5. steroid metabolic process Source: ProtInc

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

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

    Keywords - Ligandi

    Iron, NAD

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00650-MONOMER.
    ReactomeiREACT_9405. Cholesterol biosynthesis.
    UniPathwayiUPA00770; UER00756.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Methylsterol monooxygenase 1 (EC:1.14.13.72)
    Alternative name(s):
    C-4 methylsterol oxidase
    Gene namesi
    Name:MSMO1
    Synonyms:DESP4, ERG25, SC4MOL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:10545. MSMO1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: ProtInc
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of membrane Source: ProtInc
    4. plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA34955.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 293293Methylsterol monooxygenase 1PRO_0000117033Add
    BLAST

    Proteomic databases

    MaxQBiQ15800.
    PaxDbiQ15800.
    PRIDEiQ15800.

    PTM databases

    PhosphoSiteiQ15800.

    Expressioni

    Gene expression databases

    ArrayExpressiQ15800.
    BgeeiQ15800.
    CleanExiHS_SC4MOL.
    GenevestigatoriQ15800.

    Organism-specific databases

    HPAiHPA056127.

    Interactioni

    Protein-protein interaction databases

    BioGridi112214. 9 interactions.
    IntActiQ15800. 2 interactions.
    MINTiMINT-2862749.
    STRINGi9606.ENSP00000261507.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15800.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei55 – 7521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei100 – 12021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei199 – 21921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi157 – 1615Histidine box-1
    Motifi170 – 1745Histidine box-2
    Motifi249 – 2557Histidine box-3

    Domaini

    The histidine box domains may contain the active site and/or be involved in metal ion binding.

    Sequence similaritiesi

    Belongs to the sterol desaturase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG3000.
    HOGENOMiHOG000162289.
    HOVERGENiHBG051504.
    InParanoidiQ15800.
    KOiK07750.
    OMAiEKQWKCF.
    OrthoDBiEOG747PJB.
    PhylomeDBiQ15800.
    TreeFamiTF354294.

    Family and domain databases

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

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q15800-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MATNESVSIF SSASLAVEYV DSLLPENPLQ EPFKNAWNYM LNNYTKFQIA    50
    TWGSLIVHEA LYFLFCLPGF LFQFIPYMKK YKIQKDKPET WENQWKCFKV 100
    LLFNHFCIQL PLICGTYYFT EYFNIPYDWE RMPRWYFLLA RCFGCAVIED 150
    TWHYFLHRLL HHKRIYKYIH KVHHEFQAPF GMEAEYAHPL ETLILGTGFF 200
    IGIVLLCDHV ILLWAWVTIR LLETIDVHSG YDIPLNPLNL IPFYAGSRHH 250
    DFHHMNFIGN YASTFTWWDR IFGTDSQYNA YNEKRKKFEK KTE 293
    Length:293
    Mass (Da):35,216
    Last modified:November 1, 1997 - v1
    Checksum:iD88E0DDBE85DE0BF
    GO
    Isoform 2 (identifier: Q15800-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-131: Missing.

    Show »
    Length:162
    Mass (Da):19,470
    Checksum:iEFA578AF15EDB678
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti124 – 1241N → S.
    Corresponds to variant rs34499452 [ dbSNP | Ensembl ].
    VAR_048898

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 131131Missing in isoform 2. 1 PublicationVSP_044585Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U60205 mRNA. Translation: AAC50587.1.
    U93162 mRNA. Translation: AAB81566.1.
    AK292418 mRNA. Translation: BAF85107.1.
    AK295432 mRNA. Translation: BAH12066.1.
    AC012504 Genomic DNA. No translation available.
    CH471056 Genomic DNA. Translation: EAX04820.1.
    CH471056 Genomic DNA. Translation: EAX04821.1.
    BC010653 mRNA. Translation: AAH10653.1.
    BC107879 mRNA. Translation: AAI07880.1.
    CCDSiCCDS3809.1. [Q15800-1]
    CCDS43280.1. [Q15800-2]
    RefSeqiNP_001017369.1. NM_001017369.2. [Q15800-2]
    NP_006736.1. NM_006745.4. [Q15800-1]
    XP_005263233.1. XM_005263176.1. [Q15800-1]
    UniGeneiHs.105269.

    Genome annotation databases

    EnsembliENST00000261507; ENSP00000261507; ENSG00000052802. [Q15800-1]
    ENST00000393766; ENSP00000377361; ENSG00000052802. [Q15800-2]
    GeneIDi6307.
    KEGGihsa:6307.
    UCSCiuc003ire.3. human. [Q15800-1]

    Polymorphism databases

    DMDMi2498340.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U60205 mRNA. Translation: AAC50587.1 .
    U93162 mRNA. Translation: AAB81566.1 .
    AK292418 mRNA. Translation: BAF85107.1 .
    AK295432 mRNA. Translation: BAH12066.1 .
    AC012504 Genomic DNA. No translation available.
    CH471056 Genomic DNA. Translation: EAX04820.1 .
    CH471056 Genomic DNA. Translation: EAX04821.1 .
    BC010653 mRNA. Translation: AAH10653.1 .
    BC107879 mRNA. Translation: AAI07880.1 .
    CCDSi CCDS3809.1. [Q15800-1 ]
    CCDS43280.1. [Q15800-2 ]
    RefSeqi NP_001017369.1. NM_001017369.2. [Q15800-2 ]
    NP_006736.1. NM_006745.4. [Q15800-1 ]
    XP_005263233.1. XM_005263176.1. [Q15800-1 ]
    UniGenei Hs.105269.

    3D structure databases

    ProteinModelPortali Q15800.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112214. 9 interactions.
    IntActi Q15800. 2 interactions.
    MINTi MINT-2862749.
    STRINGi 9606.ENSP00000261507.

    Chemistry

    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei Q15800.

    Polymorphism databases

    DMDMi 2498340.

    Proteomic databases

    MaxQBi Q15800.
    PaxDbi Q15800.
    PRIDEi Q15800.

    Protocols and materials databases

    DNASUi 6307.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261507 ; ENSP00000261507 ; ENSG00000052802 . [Q15800-1 ]
    ENST00000393766 ; ENSP00000377361 ; ENSG00000052802 . [Q15800-2 ]
    GeneIDi 6307.
    KEGGi hsa:6307.
    UCSCi uc003ire.3. human. [Q15800-1 ]

    Organism-specific databases

    CTDi 6307.
    GeneCardsi GC04P166249.
    HGNCi HGNC:10545. MSMO1.
    HPAi HPA056127.
    MIMi 607545. gene.
    neXtProti NX_Q15800.
    PharmGKBi PA34955.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3000.
    HOGENOMi HOG000162289.
    HOVERGENi HBG051504.
    InParanoidi Q15800.
    KOi K07750.
    OMAi EKQWKCF.
    OrthoDBi EOG747PJB.
    PhylomeDBi Q15800.
    TreeFami TF354294.

    Enzyme and pathway databases

    UniPathwayi UPA00770 ; UER00756 .
    BioCyci MetaCyc:HS00650-MONOMER.
    Reactomei REACT_9405. Cholesterol biosynthesis.

    Miscellaneous databases

    ChiTaRSi MSMO1. human.
    GenomeRNAii 6307.
    NextBioi 24483.
    PROi Q15800.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15800.
    Bgeei Q15800.
    CleanExi HS_SC4MOL.
    Genevestigatori Q15800.

    Family and domain databases

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

    Publicationsi

    1. "Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue."
      Li L., Kaplan J.
      J. Biol. Chem. 271:16927-16933(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Intestine.
    2. Herrmann K.
      Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Retina.
    3. "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] (ISOFORMS 1 AND 2).
      Tissue: Corpus callosum and Testis.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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: Eye.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiMSMO1_HUMAN
    AccessioniPrimary (citable) accession number: Q15800
    Secondary accession number(s): A8K8Q3
    , A8MYF6, D3DP32, Q32Q24
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 131 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 4
      Human chromosome 4: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3