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MYSM1 Gene

protein-coding   GIFtS: 53
GCID: GC01M059120

Myb-Like, SWIRM And MPN Domains 1

  See related diseases
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
Myb-Like, SWIRM And MPN Domains 11 2     KIAA19153 5
Myb-Like, SWIRM And MPN Domain-Containing Protein 12 3     Histone H2A Deubiquitinase MYSM12
2A-DUB2 3     EC 3.4.19.-3
2ADUB2 5     EC 3.1.2.158

External Ids:    HGNC: 294011   Entrez Gene: 1148032   Ensembl: ENSG000001626017   OMIM: 6121765   UniProtKB: Q5VVJ23   

Export aliases for MYSM1 gene to outside databases

Previous GC identifers: GC01M058833 GC01M058892 GC01M057235


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MYSM1 Gene:
MYSM1 (Myb-like, SWIRM and MPN domains 1) is a protein-coding gene. Diseases associated with MYSM1 include bronchogenic carcinoma, and diabetic retinopathy. GO annotations related to this gene include chromatin binding and ubiquitin thiolesterase activity. An important paralog of this gene is MPND.

UniProtKB/Swiss-Prot: MYSM1_HUMAN, Q5VVJ2
Function: Metalloprotease that specifically deubiquitinates monoubiquitinated histone H2A, a specific tag for
epigenetic transcriptional repression, thereby acting as a coactivator. Preferentially deubiquitinates
monoubiquitinated H2A in hyperacetylated nucleosomes. Deubiquitination of histone H2A leads to facilitate the
phosphorylation and dissociation of histone H1 from the nucleosome. Acts as a coactivator by participating in the
initiation and elongation steps of androgen receptor (AR)-induced gene activation




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the MYSM1 gene promoter:
         TBP   HNF-1A   FOXL1   MEF-2A   HNF-1   TFIID   FOXJ2 (long isoform)   aMEF-2   FOXJ2   TGIF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MYSM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYSM1


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

Entrez Gene cytogenetic band: 1p32.1   Ensembl cytogenetic band:  1p32.1   HGNC cytogenetic band: 1p32.1

MYSM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYSM1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M059120:  view genomic region     (about GC identifiers)

Start:
59,120,411 bp from pter      End:
59,165,764 bp from pter
Size:
45,354 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: MYSM1_HUMAN, Q5VVJ2 (See protein sequence)
Recommended Name: Histone H2A deubiquitinase MYSM1  
Size: 828 amino acids; 95032 Da
Subunit: Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and
KIF11/TRIP5. Binds histones
Sequence caution: Sequence=BAB67808.1; Type=Erroneous initiation; Sequence=BAG54377.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for MYSM1:
2CU7 (3D)        2DCE (3D)    
Secondary accessions: A8KA54 B3KX65 Q68DD3 Q6AI53 Q7Z3G8 Q96PX3
Alternative splicing: 3 isoforms:  Q5VVJ2-1   Q5VVJ2-2   Q5VVJ2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYSM1: NX_Q5VVJ2

Explore proteomics data for MYSM1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys84, Lys90, Lys135, Lys675
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MYSM1 (Q5VVJ2) (see all 12)
     LTCLQKLL  DPFQLIPC  RLQSMRTR  IGAINFGCE 


    See MYSM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001078956.1  
    ENSEMBL proteins: 
     ENSP00000418734  

    MYSM1 Human Recombinant Protein Products:

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    OriGene Purified Protein for MYSM1
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    Novus Biologicals MYSM1 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MYSM1

    MYSM1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MYSM1
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    Abcam antibodies for MYSM1
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    MYSM1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MYSM1
    Cloud-Clone Corp. CLIAs for MYSM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR000555 JAB_MPN_dom
     IPR017884 SANT_dom
     IPR001005 SANT/Myb
     IPR011991 WHTH_DNA-bd_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q5VVJ2

    ProtoNet protein and cluster: Q5VVJ2

    1 Blocks protein domain: IPB000555 Mov34 family

    UniProtKB/Swiss-Prot: MYSM1_HUMAN, Q5VVJ2
    Domain: Binds double-stranded DNA via the SANT domain. The SWIRM domain does not bind double-stranded DNA
    Similarity: Belongs to the peptidase M67A family. MYSM1 subfamily
    Similarity: Contains 1 MPN (JAB/Mov34) domain
    Similarity: Contains 1 SANT domain
    Similarity: Contains 1 SWIRM domain


    MYSM1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYSM1_HUMAN, Q5VVJ2
    Function: Metalloprotease that specifically deubiquitinates monoubiquitinated histone H2A, a specific tag for
    epigenetic transcriptional repression, thereby acting as a coactivator. Preferentially deubiquitinates
    monoubiquitinated H2A in hyperacetylated nucleosomes. Deubiquitination of histone H2A leads to facilitate the
    phosphorylation and dissociation of histone H1 from the nucleosome. Acts as a coactivator by participating in the
    initiation and elongation steps of androgen receptor (AR)-induced gene activation

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.-1

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0003713transcription coactivator activity IDA17707232
    GO:0004221ubiquitin thiolesterase activity IDA17707232
    GO:0004843ubiquitin-specific protease activity IDA17707232
         
    MYSM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYSM1:
     Lamellipodia cells 

         15 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mysm1):
     adipose tissue  behavior/neurological  cellular  craniofacial  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     mortality/aging  other  pigmentation  skeleton  vision/eye 

    MYSM1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYSM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MYSM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYSM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYSM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MYSM1:
    hsa-mir-484 (MIRT041950), hsa-mir-186-5p (MIRT045259)

    Block miRNA regulation of human, mouse, rat MYSM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MYSM1 (see all 58):
    hsa-miR-21* hsa-miR-323-3p hsa-miR-3685 hsa-miR-607 hsa-miR-429 hsa-miR-199a-3p hsa-miR-200a hsa-miR-128
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MYSM1
    Predesigned siRNA for gene silencing in human, mouse, rat MYSM1

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for MYSM1 (see all 8)
    OriGene ORF clones in mouse, rat for MYSM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MYSM1 (NM_001085487)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYSM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYSM1

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYSM1


    (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
    MYSM1_HUMAN, Q5VVJ2: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17707232

    MYSM1 for ontologies           About GeneDecksing


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including MYSM1: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MYSM1

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

    Selected Interacting proteins for MYSM1 (Q5VVJ23 ENSP000004187344) via UniProtKB, MINT, STRING, and/or I2D (see all 179)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=2 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=2 
    ENSG00000215328P081073I2D: score=2 
    ENSG00000224501P081073I2D: score=2 
    ENSG00000231555P081073I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006338chromatin remodeling IMP17707232
    GO:0006351transcription, DNA-templated IEA--
    GO:0006508proteolysis ----
    GO:0035522monoubiquitinated histone H2A deubiquitination IMP17707232
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IMP17707232

    MYSM1 for ontologies           About GeneDecksing



    (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 MYSM1



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MYSM1 gene: 
    NM_001085487.2  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472487(uc001cza.3 uc001czc.3 uc009wab.2 uc001czd.3)
    ENST00000493821 ENST00000401044 ENST00000481973 ENST00000466774 ENST00000483003
    ENST00000489282
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MYSM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MYSM1 (see all 58):
    hsa-miR-21* hsa-miR-323-3p hsa-miR-3685 hsa-miR-607 hsa-miR-429 hsa-miR-199a-3p hsa-miR-200a hsa-miR-128
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MYSM1
    Predesigned siRNA for gene silencing in human, mouse, rat MYSM1
    Clone
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    OriGene clones in human, mouse for MYSM1 (see all 8)
    OriGene ORF clones in mouse, rat for MYSM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MYSM1 (NM_001085487)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYSM1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MYSM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MYSM1
      QuantiTect SYBR Green Assays in human, mouse, rat MYSM1
      QuantiFast Probe-based Assays in human, mouse, rat MYSM1

    Selected AceView cDNA sequences (see all 151):

    AV651910 AI376858 AA290597 BU952502 R12524 AA226746 AA357512 BC017579 
    AI655166 BX502513 CB163594 AL135188 BM723744 BM263185 AW571573 Z42019 
    BU526571 BX116216 AI473834 AL710088 BM904137 BI966826 AW675656 BM679945 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MYSM1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
    SP1:                                                                    -                                             
    SP2:                                                        -     -                                                   
    SP3:                                                                                                                  


    ECgene alternative splicing isoforms for MYSM1

    (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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    MYSM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAAAATTC
    MYSM1 Expression
    About this image

    MYSM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYSM1 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including MYSM1: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Primer
    Products:
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    QuantiFast Probe-based Assays in human, mouse, rat MYSM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYSM1

    (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.

    Orthologs for MYSM1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mysm11 , 5 myb-like, SWIRM and MPN domains 11, 5 85.48(n)1
    80.29(a)1
      4 (43.34 cM)5
    3207131  NM_177239.21  NP_796213.21 
     949420405 
    chicken
    (Gallus gallus)
    Aves MYSM11 myb-like, SWIRM and MPN domains 1 73.89(n)
    74.63(a)
      424671  NM_001012927.1  NP_001012945.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYSM16
    Myb-like, SWIRM and MPN domains 1
    69(a)
    1 ↔ 1
    5(716044-734853)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.30622 Xenopus laevis transcribed sequence with weak similarity more 76.77(n)    BX846683.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mysm11 Myb-like, SWIRM and MPN domains 1 60.02(n)
    59.43(a)
      561225  NM_001164029.1  NP_001157501.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG47516
    --
    2(a)
    1 → many
    2L(11130741-11136003)


    ENSEMBL Gene Tree for MYSM1 (if available)
    TreeFam Gene Tree for MYSM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYSM1 gene
    MPND2  

    MYSM1 for paralogs           About GeneDecksing



    (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 MYSM1 (see all 1114)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422985231,2
    --59120013(+) CCAAAA/CCTCTC 1 -- ds50010--------
    rs45532231,2
    C,F,A--59120107(+) TTAGGC/TGGCTT 1 -- ds500113Minor allele frequency- T:0.35NA WA EA 516
    rs740790091,2
    C,F--59120152(+) CCAGAG/TAATTT 1 -- ds50012Minor allele frequency- T:0.14WA 120
    rs75197511,2
    C,F,A,H--59120184(+) CATTAC/TCCTGG 1 -- ds500111Minor allele frequency- T:0.24NS EA NA CSA WA 782
    rs1114712051,2
    C--59120262(+) CTTCTT/GGTGGG 1 -- ds50012Minor allele frequency- G:0.10WA 120
    rs1880686171,2
    --59120315(+) CTATAC/TAACAG 1 -- ds50010--------
    rs412876521,2
    --59120384(+) TATTGC/TTAATA 1 -- ds50010--------
    rs2328611,2
    C,F,O,A,H--59120399(-) GGATTC/ATTTCT 1 -- ds500116Minor allele frequency- A:0.37NA WA CSA EA 519
    rs2328601,2
    C,F,A,H--59120563(-) AGAATT/CATGAA 1 -- ut31 ese324Minor allele frequency- C:0.28MN NS EA NA WA CSA 2529
    rs153071,2
    C,F,O,H--59120579(-) AAATAT/CCTGCA 1 -- ut3115Minor allele frequency- C:0.13MN EA NS NA WA CSA 893

    HapMap Linkage Disequilibrium report for MYSM1 (59120411 - 59165764 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MYSM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820181CNV Loss19587683
    dgv42n67CNV Gain20364138
    nsv819698CNV Gain19587683
    dgv43n67CNV Gain20364138
    dgv41n67CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYSM1
    DNA2.0 Custom Variant and Variant Library Synthesis for MYSM1

    (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: 612176    OMIM disorders: --

    2 diseases for MYSM1:    
    About MalaCards
    bronchogenic carcinoma    diabetic retinopathy

    1 disease from the University of Copenhagen DISEASES database for MYSM1:
    Bronchogenic carcinoma

    MYSM1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MYSM1
    Human Genome Epidemiology (HuGE) Navigator: MYSM1 (1 document)

    Export disorders for MYSM1 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 MYSM1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with MYSM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural and functional differences of SWIRM domain subtypes. (PubMed id 17428495)1, 2, 3, 9 Yoneyama M.... Yokoyama S. (J. Mol. Biol. 2007)
    2. A histone H2A deubiquitinase complex coordinating histone acetylation and H1 dissociation in transcriptional regulation. (PubMed id 17707232)1, 2, 3 Zhu P.... Rosenfeld M.G. (Mol. Cell 2007)
    3. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2001)
    4. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)1, 2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts. (PubMed id 24288411)1 Alsultan A....Alkuraya F.S. (Blood 2013)
    7. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    8. 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)
    9. 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)
    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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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 114803 HGNC: 29401 AceView: KIAA1915 Ensembl:ENSG00000162601 euGenes: HUgn114803
    ECgene: MYSM1 H-InvDB: MYSM1

    (According to HUGE)
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    HUGE: KIAA1915

    (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 MYSM1 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 MYSM1 gene:
    Search GeneIP for patents involving MYSM1

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



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