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Aliases for MYSM1 Gene

Aliases for MYSM1 Gene

  • Myb Like, SWIRM And MPN Domains 1 2 3 5
  • Myb-Like, SWIRM And MPN Domain-Containing Protein 1 3 4
  • 2A-DUB 3 4
  • Myb-Like, SWIRM And MPN Domains 1 2
  • Histone H2A Deubiquitinase MYSM1 3
  • EC 3.1.2.15 61
  • EC 3.4.19.- 4
  • KIAA1915 4
  • 2ADUB 3

External Ids for MYSM1 Gene

Previous GeneCards Identifiers for MYSM1 Gene

  • GC01M058833
  • GC01M058892
  • GC01M059120
  • GC01M057235

Summaries for MYSM1 Gene

GeneCards Summary for MYSM1 Gene

MYSM1 (Myb Like, SWIRM And MPN Domains 1) is a Protein Coding gene. Diseases associated with MYSM1 include Hemorrhagic Cystitis. Among its related pathways are Metabolism of proteins and Metalloprotease DUBs. GO annotations related to this gene include chromatin binding and protein complex binding. An important paralog of this gene is MPND.

UniProtKB/Swiss-Prot for MYSM1 Gene

  • 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYSM1 Gene

Genomics for MYSM1 Gene

Regulatory Elements for MYSM1 Gene

Enhancers for MYSM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F058880 1.3 FANTOM5 Ensembl ENCODE 22 -184.3 -184345 7.1 PKNOX1 ARNT MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 FOS MYSM1 LINC01135 FGGY JUN LOC105378753 PIR58695 GC01M058846
GH01F059228 0.8 Ensembl ENCODE 22 -529.2 -529209 1.0 ZNF140 ZNF266 CEBPG RAD21 ZNF101 YY1 ZNF664 ZNF652 GATAD2A ZNF654 MYSM1 ENSG00000272226 HSD52 GC01M059291
GH01F059541 1.4 FANTOM5 Ensembl ENCODE 22 -843.6 -843564 4.6 ZNF493 ZFP64 RAD21 YY1 THAP11 ZNF362 ZNF654 ZBTB11 CEBPB REST MYSM1 FGGY ENSG00000272226 CYP2J2 GC01P059473 MIR4711
GH01F058779 0.2 ENCODE 21.9 -83.1 -83070 8.0 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MYSM1 DAB1-AS1 FGGY LINC01135 JUN LOC105378751
GH01F059289 1.3 FANTOM5 Ensembl ENCODE 17.6 -594.4 -594434 10.0 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF143 ZNF207 MYSM1 FGGY LOC105378756 HSD52 GC01M059291
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MYSM1 on UCSC Golden Path with GeneCards custom track

Promoters for MYSM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000537427 392 1800 HDGF PKNOX1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 BRCA1 ZNF2

Genomic Location for MYSM1 Gene

Chromosome:
1
Start:
58,654,739 bp from pter
End:
58,700,092 bp from pter
Size:
45,354 bases
Orientation:
Minus strand

Genomic View for MYSM1 Gene

Genes around MYSM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYSM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYSM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYSM1 Gene

Proteins for MYSM1 Gene

  • Protein details for MYSM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VVJ2-MYSM1_HUMAN
    Recommended name:
    Histone H2A deubiquitinase MYSM1
    Protein Accession:
    Q5VVJ2
    Secondary Accessions:
    • A8KA54
    • B3KX65
    • Q68DD3
    • Q6AI53
    • Q7Z3G8
    • Q96PX3

    Protein attributes for MYSM1 Gene

    Size:
    828 amino acids
    Molecular mass:
    95032 Da
    Quaternary structure:
    • Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and KIF11/TRIP5. Binds histones.
    SequenceCaution:
    • Sequence=BAB67808.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG54377.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYSM1 Gene

    Alternative splice isoforms for MYSM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYSM1 Gene

Post-translational modifications for MYSM1 Gene

  • Ubiquitination at Lys 84, Lys 90, Lys 135, and Lys 675
  • Modification sites at PhosphoSitePlus

Domains & Families for MYSM1 Gene

Gene Families for MYSM1 Gene

Suggested Antigen Peptide Sequences for MYSM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VVJ2

UniProtKB/Swiss-Prot:

MYSM1_HUMAN :
  • Binds double-stranded DNA via the SANT domain. The SWIRM domain does not bind double-stranded DNA.
  • Belongs to the peptidase M67A family. MYSM1 subfamily.
Domain:
  • Binds double-stranded DNA via the SANT domain. The SWIRM domain does not bind double-stranded DNA.
  • Contains 1 MPN (JAB/Mov34) domain.
  • Contains 1 SANT domain.
  • Contains 1 SWIRM domain.
Family:
  • Belongs to the peptidase M67A family. MYSM1 subfamily.
genes like me logo Genes that share domains with MYSM1: view

Function for MYSM1 Gene

Molecular function for MYSM1 Gene

UniProtKB/Swiss-Prot 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) for MYSM1 Gene

Gene Ontology (GO) - Molecular Function for MYSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity IDA 17707232
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA 17707232
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IMP 17707232
genes like me logo Genes that share ontologies with MYSM1: view
genes like me logo Genes that share phenotypes with MYSM1: view

Animal Models for MYSM1 Gene

MGI Knock Outs for MYSM1:

Animal Model Products

miRNA for MYSM1 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYSM1 Gene

Localization for MYSM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYSM1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYSM1 Gene COMPARTMENTS Subcellular localization image for MYSM1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for MYSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17707232
genes like me logo Genes that share ontologies with MYSM1: view

Pathways & Interactions for MYSM1 Gene

genes like me logo Genes that share pathways with MYSM1: view

Pathways by source for MYSM1 Gene

Gene Ontology (GO) - Biological Process for MYSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006338 chromatin remodeling IMP 17707232
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006508 proteolysis IEA --
GO:0016569 covalent chromatin modification IEA --
genes like me logo Genes that share ontologies with MYSM1: view

No data available for SIGNOR curated interactions for MYSM1 Gene

Transcripts for MYSM1 Gene

Unigene Clusters for MYSM1 Gene

Myb-like, SWIRM and MPN domains 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYSM1 Gene

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

Relevant External Links for MYSM1 Gene

GeneLoc Exon Structure for
MYSM1
ECgene alternative splicing isoforms for
MYSM1

Expression for MYSM1 Gene

mRNA expression in normal human tissues for MYSM1 Gene

Protein differential expression in normal tissues from HIPED for MYSM1 Gene

This gene is overexpressed in Liver (31.0), Pancreatic juice (26.3), and Blymphocyte (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYSM1 Gene



Protein tissue co-expression partners for MYSM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYSM1 Gene:

MYSM1

SOURCE GeneReport for Unigene cluster for MYSM1 Gene:

Hs.744921
genes like me logo Genes that share expression patterns with MYSM1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MYSM1 Gene

Orthologs for MYSM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYSM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYSM1 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia MYSM1 34 35
  • 90.66 (n)
cow
(Bos Taurus)
Mammalia MYSM1 34 35
  • 90.45 (n)
mouse
(Mus musculus)
Mammalia Mysm1 34 16 35
  • 85.48 (n)
rat
(Rattus norvegicus)
Mammalia Mysm1 34
  • 85.04 (n)
oppossum
(Monodelphis domestica)
Mammalia MYSM1 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 22 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MYSM1 34 35
  • 73.89 (n)
lizard
(Anolis carolinensis)
Reptilia MYSM1 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mysm1 34
  • 57.41 (n)
Str.13159 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3062 34
zebrafish
(Danio rerio)
Actinopterygii mysm1 34 35
  • 60.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4751 35
  • 2 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
ManyToMany
-- 35
  • 17 (a)
ManyToMany
Species where no ortholog for MYSM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYSM1 Gene

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

Paralogs for MYSM1 Gene

Paralogs for MYSM1 Gene

genes like me logo Genes that share paralogs with MYSM1: view

Variants for MYSM1 Gene

Sequence variations from dbSNP and Humsavar for MYSM1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10430103 -- 58,662,521(+) ATCAG(A/C)TATAA intron-variant
rs10489539 -- 58,671,538(+) AACAA(C/T)TTGCT intron-variant
rs10489540 -- 58,694,282(+) CGTAT(C/T)CTCCA intron-variant
rs10533497 -- 58,673,213(+) AACAC(-/AT)GTGTG intron-variant
rs10658227 -- 58,654,580(+) CTTAC(-/AA)AAGGC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for MYSM1 Gene

Variant ID Type Subtype PubMed ID
dgv41n67 CNV gain 20364138
dgv42n67 CNV gain 20364138
dgv43n67 CNV gain 20364138
nsv1003930 CNV gain 25217958
nsv819698 CNV gain 19587683
nsv820181 CNV loss 19587683

Variation tolerance for MYSM1 Gene

Residual Variation Intolerance Score: 35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.68; 91.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYSM1 Gene

Human Gene Mutation Database (HGMD)
MYSM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYSM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYSM1 Gene

Disorders for MYSM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MYSM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hemorrhagic cystitis
- elite association - COSMIC cancer census association via MalaCards
Search MYSM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYSM1

Genetic Association Database (GAD)
MYSM1
Human Genome Epidemiology (HuGE) Navigator
MYSM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYSM1
genes like me logo Genes that share disorders with MYSM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYSM1 Gene

Publications for MYSM1 Gene

  1. Structural and functional differences of SWIRM domain subtypes. (PMID: 17428495) Yoneyama M. … Yokoyama S. (J. Mol. Biol. 2007) 2 3 4 22 64
  2. A histone H2A deubiquitinase complex coordinating histone acetylation and H1 dissociation in transcriptional regulation. (PMID: 17707232) Zhu P. … Rosenfeld M.G. (Mol. Cell 2007) 2 3 4 64
  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. (PMID: 11572484) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 64
  4. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N. … Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 4 64
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64

Products for MYSM1 Gene

Sources for MYSM1 Gene

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