Gene Gene information from NCBI Gene database.
Entrez ID 114803
Gene name Myb like, SWIRM and MPN domains 1
Gene symbol MYSM1
Synonyms (NCBI Gene)
2A-DUB2ADUBBMFS4
Chromosome 1
Chromosome location 1p32.1
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs1557507208 T>C Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs1557518298 C>A Pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs1569692271 T>C Likely-pathogenic Intron variant, splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs1569770360 G>C Pathogenic Non coding transcript variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
609
miRTarBase ID miRNA Experiments Reference
MIRT045259 hsa-miR-186-5p CLASH 23622248
MIRT041950 hsa-miR-484 CLASH 23622248
MIRT609553 hsa-miR-8485 HITS-CLIP 23313552
MIRT609553 hsa-miR-8485 HITS-CLIP 23313552
MIRT609553 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0003677 Function DNA binding IEA
GO:0003713 Function Transcription coactivator activity IBA
GO:0003713 Function Transcription coactivator activity IDA 17707232
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612176 29401 ENSG00000162601
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VVJ2
Protein name Deubiquitinase MYSM1 (2A-DUB) (EC 3.4.19.-) (Myb-like, SWIRM and MPN domain-containing protein 1)
Protein function Metalloprotease with deubiquitinase activity that plays important regulator roles in hematopoietic stem cell function, blood cell production and immune response (PubMed:24062447, PubMed:26220525, PubMed:28115216). Participates in the normal prog
PDB 2CU7 , 2DCE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00249 Myb_DNA-binding 118 163 Myb-like DNA-binding domain Domain
PF04433 SWIRM 375 461 SWIRM domain Domain
PF01398 JAB 572 682 JAB1/Mov34/MPN/PAD-1 ubiquitin protease Family
Sequence
MAAEEADVDIEGDVVAAAGAQPGSGENTASVLQKDHYLDSSWRTENGLIPWTLDNTISEE
NRAVIEKMLLEEEYYLSKKSQPEKVWLDQKEDDKKYMKSLQKTAKIMVHSPTKPASYSVK
WTIEEKELFEQGLAKFGRRWTKISKLIGSRTVLQVKSYARQYF
KNKVKCGLDKETPNQKT
GHNLQVKNEDKGTKAWTPSCLRGRADPNLNAVKIEKLSDDEEVDITDEVDELSSQTPQKN
SSSDLLLDFPNSKMHETNQGEFITSDSQEALFSKSSRGCLQNEKQDETLSSSEITLWTEK
QSNGDKKSIELNDQKFNELIKNCNKHDGRGIIVDARQLPSPEPCEIQKNLNDNEMLFHSC
QMVEESHEEEELKPPEQEIEIDRNIIQEEEKQAIPEFFEGRQAKTPERYLKIRNYILDQW
EICKPKYLNKTSVRPGLKNCGDVNCIGRIHTYLELIGAINF
GCEQAVYNRPQTVDKVRIR
DRKDAVEAYQLAQRLQSMRTRRRRVRDPWGNWCDAKDLEGQTFEHLSAEELAKRREEEKG
RPVKSLKVPRPTKSSFDPFQLIPCNFFSEEKQEPFQVKVASEALLIMDLHAHVSMAEVIG
LLGGRYSEVDKVVEVCAAEPCNSLSTGLQCEMDPVSQTQASETLAVRGFSVIGWYHSHPA
FDPNPSLRDIDTQAKYQSYFSR
GGAKFIGMIVSPYNRNNPLPYSQITCLVISEEISPDGS
YRLPYKFEVQQMLEEPQWGLVFEKTRWIIEKYRLSHSSVPMDKIFRRDSDLTCLQKLLEC
MRKTLSKVTNCFMAEEFLTEIENLFLSNYKSNQENGVTEENCTKELLM
Sequence length 828
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Metalloprotease DUBs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
54
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bone marrow failure syndrome 4 Pathogenic; Likely pathogenic rs1644486654, rs201886018, rs780757165, rs2524280386, rs866468317, rs1557518298, rs1557507208, rs1569770360 RCV001332802
RCV003120803
RCV002470248
RCV003148427
RCV003228194
RCV000680224
RCV000680225
RCV000995816
Clear cell carcinoma of kidney Likely pathogenic rs201886018 RCV005925640
MYSM1-related disorder Likely pathogenic rs201886018 RCV003418340
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs748297740 RCV005931617
Cervical cancer Benign rs12239731 RCV005914211
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Uncertain significance rs1434404977 RCV005863725
Familial cancer of breast Benign rs12239731 RCV005914210
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 38065233
Colorectal Neoplasms Associate 28498834
Diabetes Mellitus Type 2 Associate 27863428
Immune System Diseases Associate 38065233
Leukemia B Cell Associate 38065233
Lymphopenia Associate 38065233
Neoplasms Associate 28498834
Scoliosis Associate 34440387
Severe Combined Immunodeficiency Associate 38065233
Spinal Diseases Associate 34440387