Human Gene MYSM1 (uc009wab.2)
  Description: Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:59,120,411-59,165,747 Size: 45,337 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg19 chr1:59,125,669-59,165,724 Size: 40,056 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:59,120,411-59,165,747)mRNA (may differ from genome)Protein (828 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYSM1_HUMAN
DESCRIPTION: RecName: Full=Histone H2A deubiquitinase MYSM1; Short=2A-DUB; EC=3.4.19.-; AltName: Full=Myb-like, SWIRM and MPN domain-containing protein 1;
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.
SUBUNIT: Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and KIF11/TRIP5. Binds histones.
SUBCELLULAR LOCATION: Nucleus.
DOMAIN: Binds double-stranded DNA via the SANT domain. The SWIRM domain does not bind double-stranded DNA.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
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.
SEQUENCE CAUTION: Sequence=BAB67808.1; Type=Erroneous initiation; Sequence=BAG54377.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MYSM1
CDC HuGE Published Literature: MYSM1
Positive Disease Associations: Lipids , Triglycerides
Related Studies:
  1. Lipids
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Triglycerides
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Triglycerides
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MYSM1
Diseases sorted by gene-association score: hemorrhagic cystitis (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.90 RPKM in Small Intestine - Terminal Ileum
Total median expression: 344.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.0023-0.217 Picture PostScript Text
3' UTR -1305.595258-0.248 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009057 - Homeodomain-like
IPR000555 - JAB1_Mov34_MPN_PAD1
IPR001005 - SANT/Myb
IPR017884 - SANT_dom
IPR007526 - SWIRM
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00249 - Myb-like DNA-binding domain
PF01398 - JAB1/Mov34/MPN/PAD-1 ubiquitin protease
PF04433 - SWIRM domain
PF14464 - Prokaryotic homologs of the JAB domain

SCOP Domains:
46689 - Homeodomain-like
102712 - JAB1/MPN domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CU7 - NMR MuPIT 2DCE - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q5VVJ2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003713 transcription coactivator activity
GO:0004843 thiol-dependent ubiquitin-specific protease activity
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0016787 hydrolase activity
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity
GO:0042393 histone binding
GO:0044877 macromolecular complex binding
GO:0046872 metal ion binding

Biological Process:
GO:0006325 chromatin organization
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006508 proteolysis
GO:0030334 regulation of cell migration
GO:0035522 monoubiquitinated histone H2A deubiquitination
GO:0043473 pigmentation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051797 regulation of hair follicle development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  LF206520 - JP 2014500723-A/14023: Polycomb-Associated Non-Coding RNAs.
BC037536 - Homo sapiens myb-like, SWIRM and MPN domains 1, mRNA (cDNA clone IMAGE:5274991).
AB067502 - Homo sapiens mRNA for KIAA1915 protein, partial cds.
CR749450 - Homo sapiens mRNA; cDNA DKFZp779J1721 (from clone DKFZp779J1721).
BX537912 - Homo sapiens mRNA; cDNA DKFZp313C082 (from clone DKFZp313C082); complete cds.
JD281577 - Sequence 262601 from Patent EP1572962.
JD291224 - Sequence 272248 from Patent EP1572962.
LF355734 - JP 2014500723-A/163237: Polycomb-Associated Non-Coding RNAs.
JD244705 - Sequence 225729 from Patent EP1572962.
JD268590 - Sequence 249614 from Patent EP1572962.
JD354323 - Sequence 335347 from Patent EP1572962.
JD348772 - Sequence 329796 from Patent EP1572962.
LF355735 - JP 2014500723-A/163238: Polycomb-Associated Non-Coding RNAs.
JD053395 - Sequence 34419 from Patent EP1572962.
JD534081 - Sequence 515105 from Patent EP1572962.
JD508980 - Sequence 490004 from Patent EP1572962.
JD084560 - Sequence 65584 from Patent EP1572962.
LF355736 - JP 2014500723-A/163239: Polycomb-Associated Non-Coding RNAs.
JD040044 - Sequence 21068 from Patent EP1572962.
JD285970 - Sequence 266994 from Patent EP1572962.
JD272615 - Sequence 253639 from Patent EP1572962.
JD285034 - Sequence 266058 from Patent EP1572962.
LF355737 - JP 2014500723-A/163240: Polycomb-Associated Non-Coding RNAs.
JD403812 - Sequence 384836 from Patent EP1572962.
JD056036 - Sequence 37060 from Patent EP1572962.
JD096737 - Sequence 77761 from Patent EP1572962.
JD381382 - Sequence 362406 from Patent EP1572962.
JD227402 - Sequence 208426 from Patent EP1572962.
JD304551 - Sequence 285575 from Patent EP1572962.
JD299003 - Sequence 280027 from Patent EP1572962.
JD192229 - Sequence 173253 from Patent EP1572962.
JD103443 - Sequence 84467 from Patent EP1572962.
JD317983 - Sequence 299007 from Patent EP1572962.
JD290984 - Sequence 272008 from Patent EP1572962.
JD090997 - Sequence 72021 from Patent EP1572962.
LF355738 - JP 2014500723-A/163241: Polycomb-Associated Non-Coding RNAs.
JD171080 - Sequence 152104 from Patent EP1572962.
JD510896 - Sequence 491920 from Patent EP1572962.
JD181878 - Sequence 162902 from Patent EP1572962.
JD319683 - Sequence 300707 from Patent EP1572962.
JD239695 - Sequence 220719 from Patent EP1572962.
JD163960 - Sequence 144984 from Patent EP1572962.
JD430001 - Sequence 411025 from Patent EP1572962.
JD042126 - Sequence 23150 from Patent EP1572962.
JD084055 - Sequence 65079 from Patent EP1572962.
JD503591 - Sequence 484615 from Patent EP1572962.
JD267244 - Sequence 248268 from Patent EP1572962.
JD304742 - Sequence 285766 from Patent EP1572962.
JD119518 - Sequence 100542 from Patent EP1572962.
JD325987 - Sequence 307011 from Patent EP1572962.
JD368400 - Sequence 349424 from Patent EP1572962.
LF355739 - JP 2014500723-A/163242: Polycomb-Associated Non-Coding RNAs.
LF355740 - JP 2014500723-A/163243: Polycomb-Associated Non-Coding RNAs.
JD372307 - Sequence 353331 from Patent EP1572962.
JD080983 - Sequence 62007 from Patent EP1572962.
JD237257 - Sequence 218281 from Patent EP1572962.
JD237011 - Sequence 218035 from Patent EP1572962.
BX648168 - Homo sapiens mRNA; cDNA DKFZp686O0940 (from clone DKFZp686O0940).
JD060063 - Sequence 41087 from Patent EP1572962.
JD501810 - Sequence 482834 from Patent EP1572962.
LF355741 - JP 2014500723-A/163244: Polycomb-Associated Non-Coding RNAs.
JD475675 - Sequence 456699 from Patent EP1572962.
JD494828 - Sequence 475852 from Patent EP1572962.
AK292919 - Homo sapiens cDNA FLJ75030 complete cds.
JD082426 - Sequence 63450 from Patent EP1572962.
AK126835 - Homo sapiens cDNA FLJ44887 fis, clone BRAMY2041347, highly similar to Protein MYSM1.
BC167849 - Synthetic construct Homo sapiens clone IMAGE:100068239, MGC:195856 Myb-like, SWIRM and MPN domains 1 (MYSM1) mRNA, encodes complete protein.
LF355742 - JP 2014500723-A/163245: Polycomb-Associated Non-Coding RNAs.
LF355743 - JP 2014500723-A/163246: Polycomb-Associated Non-Coding RNAs.
LF355744 - JP 2014500723-A/163247: Polycomb-Associated Non-Coding RNAs.
LF355745 - JP 2014500723-A/163248: Polycomb-Associated Non-Coding RNAs.
LF355747 - JP 2014500723-A/163250: Polycomb-Associated Non-Coding RNAs.
LF355748 - JP 2014500723-A/163251: Polycomb-Associated Non-Coding RNAs.
LF355749 - JP 2014500723-A/163252: Polycomb-Associated Non-Coding RNAs.
BC017579 - Homo sapiens, clone IMAGE:4107433, mRNA.
JD039660 - Sequence 20684 from Patent EP1572962.
JD412148 - Sequence 393172 from Patent EP1572962.
JD069225 - Sequence 50249 from Patent EP1572962.
CR627323 - Homo sapiens mRNA; cDNA DKFZp779J1554 (from clone DKFZp779J1554).
JD312286 - Sequence 293310 from Patent EP1572962.
LF355758 - JP 2014500723-A/163261: Polycomb-Associated Non-Coding RNAs.
LF355760 - JP 2014500723-A/163263: Polycomb-Associated Non-Coding RNAs.
MA442097 - JP 2018138019-A/14023: Polycomb-Associated Non-Coding RNAs.
MA591311 - JP 2018138019-A/163237: Polycomb-Associated Non-Coding RNAs.
MA591312 - JP 2018138019-A/163238: Polycomb-Associated Non-Coding RNAs.
MA591313 - JP 2018138019-A/163239: Polycomb-Associated Non-Coding RNAs.
MA591314 - JP 2018138019-A/163240: Polycomb-Associated Non-Coding RNAs.
MA591315 - JP 2018138019-A/163241: Polycomb-Associated Non-Coding RNAs.
MA591316 - JP 2018138019-A/163242: Polycomb-Associated Non-Coding RNAs.
MA591317 - JP 2018138019-A/163243: Polycomb-Associated Non-Coding RNAs.
MA591318 - JP 2018138019-A/163244: Polycomb-Associated Non-Coding RNAs.
MA591319 - JP 2018138019-A/163245: Polycomb-Associated Non-Coding RNAs.
MA591320 - JP 2018138019-A/163246: Polycomb-Associated Non-Coding RNAs.
MA591321 - JP 2018138019-A/163247: Polycomb-Associated Non-Coding RNAs.
MA591322 - JP 2018138019-A/163248: Polycomb-Associated Non-Coding RNAs.
MA591324 - JP 2018138019-A/163250: Polycomb-Associated Non-Coding RNAs.
MA591325 - JP 2018138019-A/163251: Polycomb-Associated Non-Coding RNAs.
MA591326 - JP 2018138019-A/163252: Polycomb-Associated Non-Coding RNAs.
MA591335 - JP 2018138019-A/163261: Polycomb-Associated Non-Coding RNAs.
MA591337 - JP 2018138019-A/163263: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5VVJ2 (Reactome details) participates in the following event(s):

R-HSA-5691381 MYSM1 deubiquitinates Histone H2A
R-HSA-5689901 Metalloprotease DUBs
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A8KA54, B3KX65, KIAA1915, MYSM1_HUMAN, NM_001085487, NP_001078956, Q5VVJ2, Q68DD3, Q6AI53, Q7Z3G8, Q96PX3
UCSC ID: uc009wab.2
RefSeq Accession: NM_001085487
Protein: Q5VVJ2 (aka MYSM1_HUMAN)
CCDS: CCDS41343.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001085487.2
exon count: 20CDS single in 3' UTR: no RNA size: 7768
ORF size: 2487CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5171.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.