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    MYSM1 Myb like, SWIRM and MPN domains 1 [ Homo sapiens (human) ]

    Gene ID: 114803, updated on 10-Sep-2016
    Official Symbol
    MYSM1provided by HGNC
    Official Full Name
    Myb like, SWIRM and MPN domains 1provided by HGNC
    Primary source
    HGNC:HGNC:29401
    See related
    Ensembl:ENSG00000162601 MIM:612176; Vega:OTTHUMG00000009533
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    2ADUB; 2A-DUB
    Orthologs
    Location:
    1p32.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (58654739..58700091, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (59120411..59165747, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tumor-associated calcium signal transducer 2 Neighboring gene adenylate kinase 2 pseudogene 1 Neighboring gene uncharacterized LOC105378751 Neighboring gene Jun proto-oncogene, AP-1 transcription factor subunit

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of diabetic retinopathy in a Taiwanese population.
    NHGRI GWA Catalog
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Metalloprotease DUBs, organism-specific biosystem (from REACTOME)
      Metalloprotease DUBs, organism-specific biosystemThe JAB1/MPN +/MOV34 (JAMM) domain metalloproteases cleave the isopeptide bond at or near the the attachment point of polyubiquitin and substrate. PSMD14 (RPN11), STAMBP (AMSH), STAMBPL1 (AMSH-LP), a...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1915, DKFZp779J1554, DKFZp779J1721

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metallopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    monoubiquitinated histone H2A deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    histone H2A deubiquitinase MYSM1
    Names
    myb-like, SWIRM and MPN domain-containing protein 1
    NP_001078956.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001085487.2NP_001078956.1  histone H2A deubiquitinase MYSM1

      See identical proteins and their annotated locations for NP_001078956.1

      Status: VALIDATED

      Source sequence(s)
      AL035411, AL450024
      Consensus CDS
      CCDS41343.1
      UniProtKB/Swiss-Prot
      Q5VVJ2
      Related
      ENSP00000418734, OTTHUMP00000011131, ENST00000472487, OTTHUMT00000026343
      Conserved Domains (4) summary
      cd08067
      Location:571753
      MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase
      smart00717
      Location:120164
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:120162
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam04433
      Location:382461
      SWIRM; SWIRM domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      58654739..58700091 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710314.3XP_006710377.1  

      Conserved Domains (4) summary
      cd08067
      Location:571753
      MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase
      smart00717
      Location:120164
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:120162
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam04433
      Location:382461
      SWIRM; SWIRM domain
    2. XM_017000196.1XP_016855685.1  

    3. XM_011540574.2XP_011538876.1  

      Conserved Domains (4) summary
      cd08067
      Location:482664
      MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase
      smart00717
      Location:3175
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd00167
      Location:3174
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
      pfam04433
      Location:285372
      SWIRM; SWIRM domain
    4. XM_017000195.1XP_016855684.1  

    5. XM_011540573.2XP_011538875.1  

      Conserved Domains (4) summary
      cd08067
      Location:504686
      MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase
      smart00717
      Location:5397
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:5395
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam04433
      Location:315394
      SWIRM; SWIRM domain
    6. XM_017000197.1XP_016855686.1  

    RNA

    1. XR_246231.4 RNA Sequence

      Related
      ENST00000493821
    2. XR_946533.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      59235741..59281136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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