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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 56
  • 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. Gene Ontology (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.

Additional gene information for MYSM1 Gene

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

Genomics for MYSM1 Gene

GeneHancer (GH) Regulatory Elements for MYSM1 Gene

Promoters and enhancers for MYSM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I058698 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.1 +0.3 337 2.1 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B MYSM1 ENSG00000272226 DAB1 OMA1 GC01M058655
GH01I058779 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 33.1 -83.1 -83069 8 FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 LINC01135 JUN MYSM1 FGGY LOC105378751
GH01I059289 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 38.8 -591.8 -591791 4.7 HDGF CLOCK FOXA2 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF548 FOS MYSM1 FGGY LOC105378756 GC01M059291
GH01I058812 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -116.2 -116217 7.8 FOXA2 ARID4B SIN3A FEZF1 DMAP1 POLR2B ZNF766 ZNF207 ZNF143 FOS PIR37218 JUN MYSM1 LINC01135 FGGY ENSG00000272226 LOC101926907 ENSG00000231740
GH01I058894 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 11 -200.0 -200040 10.7 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 SP3 NFYC PPARGC1A MEF2D LINC01135 MYSM1 JUN LOC105378753 FGGY PIR58695
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYSM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYSM1 gene promoter:

Genomic Locations for MYSM1 Gene

Genomic Locations for MYSM1 Gene
chr1:58,654,739-58,700,092
(GRCh38/hg38)
Size:
45,354 bases
Orientation:
Minus strand
chr1:59,120,411-59,165,764
(GRCh37/hg19)

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

Selected DME Specific Peptides for MYSM1 Gene

Q5VVJ2:
  • NCGDVNCIGRIH
  • RLQSMRTR
  • IGAINFGCE
  • DPFQLIPC
  • FIGMIVSPYN
  • KTRWIIEKYR
  • WGNWCDAKDLEGQT
  • RDIDTQAKYQ
  • QCEMDPVSQTQASE
  • LTCLQKLL
  • RTVLQVKSYA
  • KTPERYLKIRN

Post-translational modifications for MYSM1 Gene

  • Ubiquitination at isoforms=84, isoforms=90, Lys135, and isoforms=2, 3675
  • Modification sites at PhosphoSitePlus

Domains & Families for MYSM1 Gene

Gene Families for MYSM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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.
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

Phenotypes From GWAS Catalog 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:

miRNA for MYSM1 Gene

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYSM1 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytoskeleton 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17707232
GO:0005654 nucleoplasm TAS --
GO:0005886 plasma membrane IDA --
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

Drugs & Compounds for MYSM1 Gene

No Compound Related Data Available

Transcripts for MYSM1 Gene

Unigene Clusters for MYSM1 Gene

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for MYSM1 Gene

  • Nervous system(4.4)
  • Liver(4.2)
  • Skin(4.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with MYSM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia MYSM1 33 34
  • 90.66 (n)
cow
(Bos Taurus)
Mammalia MYSM1 33 34
  • 90.45 (n)
mouse
(Mus musculus)
Mammalia Mysm1 33 16 34
  • 85.48 (n)
rat
(Rattus norvegicus)
Mammalia Mysm1 33
  • 85.04 (n)
oppossum
(Monodelphis domestica)
Mammalia MYSM1 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 22 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MYSM1 33 34
  • 73.89 (n)
lizard
(Anolis carolinensis)
Reptilia MYSM1 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mysm1 33
  • 57.41 (n)
Str.13159 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3062 33
zebrafish
(Danio rerio)
Actinopterygii mysm1 33 34
  • 60.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4751 34
  • 2 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
ManyToMany
-- 34
  • 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 Variation AA Info Type
rs1000194916 -- 58,690,094(-) A/T intron_variant
rs1000198152 -- 58,690,759(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000215747 -- 58,694,633(-) AAC/ genic_upstream_transcript_variant, intron_variant
rs1000360939 -- 58,683,030(-) C/T intron_variant
rs1000374510 -- 58,661,023(-) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

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)

Additional Variant Information for MYSM1 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD and 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

Additional Disease Information for MYSM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Journal of molecular biology 2007) 2 3 4 22 58
  2. A histone H2A deubiquitinase complex coordinating histone acetylation and H1 dissociation in transcriptional regulation. (PMID: 17707232) Zhu P … Rosenfeld MG (Molecular cell 2007) 2 3 4 58
  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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  4. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N … Gygi SP (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for MYSM1 Gene

Sources for MYSM1 Gene

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