MYSM1 (Myb like, SWIRM and MPN domains 1)

2018-07-01  

Identity

HGNC
MYSM1
LOCATION
1p32.1
LOCUSID
114803
ALIAS
2A-DUB,2ADUB,BMFS4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 114803
MIM: 612176
HGNC: 29401
Ensembl: ENSG00000162601

Variants:

dbSNP: 114803
ClinVar: 114803
TCGA: ENSG00000162601
COSMIC: MYSM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162601ENST00000472487Q5VVJ2
ENSG00000162601ENST00000622766Q5VVJ2
ENSG00000162601ENST00000655340A0A590UJD8
ENSG00000162601ENST00000659108A0A590UJT8
ENSG00000162601ENST00000659812A0A590UK32
ENSG00000162601ENST00000665648A0A590UJW2

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
Metalloprotease DUBsREACTOMER-HSA-5689901

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
177072322007A histone H2A deubiquitinase complex coordinating histone acetylation and H1 dissociation in transcriptional regulation.105
174284952007Structural and functional differences of SWIRM domain subtypes.20
262205252015An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.17
242884112013MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.15
281152162017Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.8
284988342017Expression of MYSM1 is associated with tumor progression in colorectal cancer.6
275905072016MYSM1/miR-150/FLT3 inhibits B1a cell proliferation.3
316073242019[Deubiquitinase MYSM1 Regulates Differentiation of Human B Cells to Plasma Cells].0

Citation

Dessen P

MYSM1 (Myb like, SWIRM and MPN domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57504/mysm1