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MSMO1 Gene

protein-coding   GIFtS: 54
GCID: GC04P166249

Methylsterol Monooxygenase 1

(Previous name: sterol-C4-methyl oxidase-like)
(Previous symbol: SC4MOL)
  Search for MSMO1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Methylsterol Monooxygenase 11 2     C-4 Methylsterol Oxidase2 3
SC4MOL1 2 3 5     Sterol-C4-Methyl Oxidase-Like1
ERG252 3 5     C-4 Methyl Sterol2
DESP42 3     EC 1.14.13.723

External Ids:    HGNC: 105451   Entrez Gene: 63072   Ensembl: ENSG000000528027   OMIM: 6075455   UniProtKB: Q158003   

Export aliases for MSMO1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MSMO1 Gene:
Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains
a set of putative metal binding motifs with similarity to that seen in a family of membrane
desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to
function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have
been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for MSMO1 Gene:
MSMO1 (methylsterol monooxygenase 1) is a protein-coding gene. GO annotations related to this gene include C-4 methylsterol oxidase activity and iron ion binding. An important paralog of this gene is CH25H.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MSMO1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMSMO1 promoter sequence
   Search Chromatin IP Primers for MSMO1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MSMO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q32-q34   Ensembl cytogenetic band:  4q32.3   HGNC cytogenetic band: 4q32-q34

MSMO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MSMO1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P166249:  view genomic region     (about GC identifiers)

Start:
166,248,775 bp from pter      End:
166,264,312 bp from pter
Size:
15,538 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MSMO1_HUMAN, Q15800 (See protein sequence)
Recommended Name: Methylsterol monooxygenase 1  
Size: 293 amino acids; 35216 Da
Cofactor: Iron (Probable)
Secondary accessions: A8K8Q3 A8MYF6 D3DP32 Q32Q24
Alternative splicing: 2 isoforms:  Q15800-1   Q15800-2   

Explore the universe of human proteins at neXtProt for MSMO1: NX_Q15800

Explore proteomics data for MSMO1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys87, Lys284
  • Modification sites at PhosphoSitePlus

  • See MSMO1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001017369.1  NP_006736.1  

    ENSEMBL proteins: 
     ENSP00000261507   ENSP00000425241   ENSP00000377361   ENSP00000423633   ENSP00000425112  
    Reactome Protein details: Q15800

    MSMO1 Human Recombinant Protein Products:

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    Novus Biologicals MSMO1 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for MSMO1 

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for MSMO1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FATHD: Fatty acid hydroxylase domain containing

    1 InterPro protein domain:
     IPR006694 Fatty_acid_hydroxylase

    Graphical View of Domain Structure for InterPro Entry Q15800

    ProtoNet protein and cluster: Q15800

    1 Blocks protein domain: IPB006088 Sterol desaturase

    UniProtKB/Swiss-Prot: MSMO1_HUMAN, Q15800
    Domain: The histidine box domains may contain the active site and/or be involved in metal ion binding
    Similarity: Belongs to the sterol desaturase family


    Find genes that share domains with MSMO1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MSMO1_HUMAN, Q15800
    Catalytic activity: 4,4-dimethyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O(2) =
    4-beta-hydroxymethyl-4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)(+) + H(2)O
    Catalytic activity: 4-beta-hydroxymethyl-4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O(2) =
    3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde + NAD(P)(+) + 2 H(2)O
    Catalytic activity: 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde + NAD(P)H + O(2) =
    3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate + NAD(P)(+) + H(2)O

         Enzyme Number (IUBMB): EC 1.14.13.721

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000254C-4 methylsterol oxidase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0016491oxidoreductase activity ----
         
    Find genes that share ontologies with MSMO1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MSMO1:
     Increased S DNA content 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Sc4mol):
     mortality/aging 

    Find genes that share phenotypes with MSMO1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MSMO1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MSMO1

    miRNA
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    miRTarBase miRNAs that target MSMO1:
    hsa-let-7e-5p (MIRT051607), hsa-mir-26b-5p (MIRT030172), hsa-mir-19a-3p (MIRT007120), hsa-mir-335-5p (MIRT018951)

    Block miRNA regulation of human, mouse, rat MSMO1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MSMO1
    SwitchGear 3'UTR luciferase reporter plasmidMSMO1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MSMO1

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    Addgene plasmids for MSMO1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSMO1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MSMO1_HUMAN, Q15800: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS8663358
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005886plasma membrane TAS8663358
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with MSMO1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MSMO1 About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    Steroid biosynthesis0.57
    Cholesterol biosynthesis0.85
    zymosterol biosynthesis0.00
    Cholesterol biosynthesis0.62
    cholesterol biosynthesis III (via desmosterol)0.00
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    cholesterol biosynthesis I0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38


    Find genes that share SuperPaths with MSMO1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for MSMO1 (see all 6)
        Cholesterol biosynthesis
    zymosterol biosynthesis
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)


    1 Reactome Pathway for MSMO1
        Cholesterol biosynthesis


    2 Kegg Pathways  (Kegg details for MSMO1):
        Steroid biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: MSMO1_HUMAN, Q15800
    Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 3/6

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MSMO1
    Interactions:

        Search GeneGlobe Interaction Network for MSMO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MSMO1 (Q158002, 3 ENSP000002615074) via UniProtKB, MINT, STRING, and/or I2D (see all 130)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2862770 I2D: score=3 STRING: ENSP00000244769
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process TAS8663358
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0008202steroid metabolic process TAS8663358
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with MSMO1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MSMO1

    3 Novoseek inferred chemical compound relationships for MSMO1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ergosterol 77.8 2 11353609 (1), 19234875 (1)
    sterol 54.5 2 12667960 (1)
    iron 24.8 2 8663358 (1)



    Find genes that share compounds with MSMO1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MSMO1 gene (2 alternative transcripts): 
    NM_001017369.2  NM_006745.4  

    Unigene Cluster for MSMO1:

    Methylsterol monooxygenase 1
    Hs.105269  [show with all ESTs]
    Unigene Representative Sequence: NM_006745
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261507(uc003ire.3 uc003irf.3) ENST00000507013 ENST00000393766
    ENST00000504317(uc010irb.3) ENST00000505270
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MSMO1
      QuantiFast Probe-based Assays in human, mouse, rat MSMO1

    Additional mRNA sequence: 

    AK292418.1 AK295432.1 AK309206.1 BC010653.1 BC107879.1 U60205.1 U93162.1 

    17 DOTS entries:

    DT.92448810  DT.101959545  DT.100821460  DT.92448812  DT.95092853  DT.40108055  DT.92448815  DT.100024145 
    DT.100663455  DT.100821470  DT.121217562  DT.95207883  DT.97840208  DT.99954614  DT.100821461  DT.121217561 
    DT.92448811 

    Selected AceView cDNA sequences (see all 293):

    AV701787 AA992847 BQ024923 W68307 CR617900 BQ721872 BG167714 CB068570 
    BP362198 AA460322 BM804209 BG695880 AA912355 BM802554 CB051149 BM888342 
    AU130630 AA861930 AW004978 BU181695 AW514688 BX398595 AA658031 CA438807 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MSMO1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c
    SP1:                    -     -     -                       -     -                                 
    SP2:                    -     -     -     -                 -     -                                 
    SP3:                                -                       -     -                                 
    SP4:                    -     -     -                                                               
    SP5:                                                                                                


    ECgene alternative splicing isoforms for MSMO1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MSMO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTGAACCT
    MSMO1 Expression
    About this image


    MSMO1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Ovary (Reproductive System)
             Mature follicles
     
     Colon (Gastrointestinal Tract)
    MSMO1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MSMO1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.105269
        Custom PCR Arrays for MSMO1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSMO1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MSMO1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sc4mol1 , 5 sterol-C4-methyl oxidase-like1, 5 82.94(n)1
    89.08(a)1
      8 (32.30 cM)5
    662341  NM_025436.21  NP_079712.11 
     647181395 
    chicken
    (Gallus gallus)
    Aves MSMO11 methylsterol monooxygenase 1 76.89(n)
    83.97(a)
      422423  NM_001006438.1  NP_001006438.1 
    lizard
    (Anolis carolinensis)
    Reptilia MSMO16
    methylsterol monooxygenase 1
    82(a)
    1 ↔ 1
    GL343317.1(77360-92970)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia msmo11 methylsterol monooxygenase 1 73.95(n)
    78.5(a)
      780270  NM_001079341.1  NP_001072809.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb59g062 Danio rerio mRNA similar to sterol-C4-methyl oxidase-like more 75.27(n)    BC050163.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F49E12.106
    Protein F49E12.10 (F49E12.10) mRNA, complete cds
    24(a)
    many ↔ many
    II(8391088-8392281) WBGene00009903
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG25(YGR060W)4 C-4 methyl sterol oxidase, catalyzes the first of three more   --   7(610564-611493) 852951  NP_011574.1 


    ENSEMBL Gene Tree for MSMO1 (if available)
    TreeFam Gene Tree for MSMO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MSMO1 gene
    CH25H2  FAXDC22  

    Find genes that share paralogs with MSMO1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for MSMO1
    PGOHUM00000246039 PGOHUM00000250068


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MSMO1 (see all 436)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1151588221,2
    C,F--166246866(+) GGTGGT/CGTGCC 2 -- us2k11Minor allele frequency- C:0.06NA 120
    rs15502681,2
    H--166246890(+) caggaC/Acaaca 2 -- us2k1 tfbs34Minor allele frequency- A:0.00NS EA 400
    rs1431721411,2
    --166246926(+) ACACTA/GAGACA 2 -- us2k10--------
    rs1925494021,2
    --166246936(+) AGCAGC/GGTTTG 2 -- us2k10--------
    rs1466657131,2
    --166246988(+) GATGGA/GAGGAA 2 -- us2k10--------
    rs1856038501,2
    --166247016(+) TCTGAA/GGAGTT 2 -- us2k10--------
    rs729977311,2
    C,F--166247023(+) AGTTCT/CGTGCT 2 -- us2k13Minor allele frequency- C:0.08WA 122
    rs76980561,2
    C,F,A,H--166247185(+) cagtaC/Tgaagg 2 -- us2k127Minor allele frequency- T:0.35NS EA NA WA CSA 2762
    rs1392451221,2
    --166247281(+) CTTGTA/TACAGA 2 -- us2k10--------
    rs76981101,2
    C,F,H--166247317(+) caaacA/Tattat 2 -- us2k16Minor allele frequency- T:0.00NS EA CSA WA 506

    HapMap Linkage Disequilibrium report for MSMO1 (166248775 - 166264312 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MSMO1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv289926CNV Loss16902084

    Human Gene Mutation Database (HGMD): MSMO1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MSMO1
    DNA2.0 Custom Variant and Variant Library Synthesis for MSMO1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607545    OMIM disorders: --


    Find genes that share disorders with MSMO1           About GenesLikeMe


    Export disorders for MSMO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MSMO1 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with MSMO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue. (PubMed id 8663358)1, 2, 3, 9 Li L. and Kaplan J. (J. Biol. Chem. 1996)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    4. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    5. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    6. Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans. (PubMed id 22791750)1 Chen G....Rotimi C. (Hum. Mol. Genet. 2012)
    7. Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation. (PubMed id 21103663)1 Schaafhausen A....MA1ller C.R. (Thromb. Haemost. 2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. (PubMed id 21285510)1 He M....Vockley J. (J. Clin. Invest. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6307 HGNC: 10545 AceView: SC4MOL Ensembl:ENSG00000052802 euGenes: HUgn6307
    ECgene: MSMO1 Kegg: 6307 H-InvDB: MSMO1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MSMO1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MSMO1 gene:
    Search GeneIP for patents involving MSMO1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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