MYSM1
entrez
114803
canonical
uniprot
Q5VVJ2
canonical
ensembl
ENSG00000162601
resolver
ensp
ENSP00000418734
resolver
ensp
ENSP00000499586
resolver
ensp
ENSP00000600923
resolver
enst
ENST00000665648
resolver
genesymbol
MYSM1
resolver
genesymbol_syn
KIAA1915
resolver
hgnc
HGNC:29401
resolver
uniprot
A0A590UJW2
resolver
uniprot
A8KA54
resolver
uniprot
B3KX65
resolver
uniprot
Q68DD3
resolver
uniprot
Q6AI53
resolver
uniprot
Q7Z3G8
resolver
uniprot
Q96PX3
resolver
uniprot_entry
A0A590UJW2_HUMAN
resolver
uniprot_entry
MYSM1_HUMAN
resolver
uniprot_sec
A8KA54
resolver
uniprot_sec
B3KX65
resolver
uniprot_sec
Q68DD3
resolver
uniprot_sec
Q6AI53
resolver
uniprot_sec
Q7Z3G8
resolver
uniprot_sec
Q96PX3
resolver
amino_acid_sequence
MAAEEADVDIEGDVVAAAGAQPGSGENTASVLQKDHYLDSSWRTENGLIPWTLDNTISEENRAVIEKMLLEEEYYLSKKSQPEKVWLDQKEDDKKYMKSLQKTAKIMVHSPTKPASYSVKWTIEEKELFEQGLAKFGRRWTKISKLIGSRTVLQVKSYARQYFKNKVKCGLDKETPNQKTGHNLQVKNEDKGTKAWTPSCLRGRADPNLNAVKIEKLSDDEEVDITDEVDELSSQTPQKNSSSDLLLDFPNSKMHETNQGEFITSDSQEALFSKSSRGCLQNEKQDETLSSSEITLWTEKQSNGDKKSIELNDQKFNELIKNCNKHDGRGIIVDARQLPSPEPCEIQKNLNDNEMLFHSCQMVEESHEEEELKPPEQEIEIDRNIIQEEEKQAIPEFFEGRQAKTPERYLKIRNYILDQWEICKPKYLNKTSVRPGLKNCGDVNCIGRIHTYLELIGAINFGCEQAVYNRPQTVDKVRIRDRKDAVEAYQLAQRLQSMRTRRRRVRDPWGNWCDAKDLEGQTFEHLSAEELAKRREEEKGRPVKSLKVPRPTKSSFDPFQLIPCNFFSEEKQEPFQVKVASEALLIMDLHAHVSMAEVIGLLGGRYSEVDKVVEVCAAEPCNSLSTGLQCEMDPVSQTQASETLAVRGFSVIGWYHSHPAFDPNPSLRDIDTQAKYQSYFSRGGAKFIGMIVSPYNRNNPLPYSQITCLVISEEISPDGSYRLPYKFEVQQMLEEPQWGLVFEKTRWIIEKYRLSHSSVPMDKIFRRDSDLTCLQKLLECMRKTLSKVTNCFMAEEFLTEIENLFLSNYKSNQENGVTEENCTKELLM
uniprot
proteins
disease_involvement
DISEASE: Bone marrow failure syndrome 4 (BMFS4) [MIM:618116]: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive. {ECO:0000269|PubMed:24288411, ECO:0000269|PubMed:26220525, ECO:0000269|PubMed:28115216}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.19.-
uniprot
proteins
function
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 programming of B-cell responses to antigen after the maturation process (By similarity). Within the cytoplasm, plays critical roles in the repression of innate immunity and autoimmunity (PubMed:33086059). Removes 'Lys-63'-linked polyubiquitins from TRAF3 and TRAF6 complexes (By similarity). Attenuates NOD2-mediated inflammation and tissue injury by promoting 'Lys-63'-linked deubiquitination of RIPK2 component (By similarity). Suppresses the CGAS-STING1 signaling pathway by cleaving STING1 'Lys-63'-linked ubiquitin chains (PubMed:33086059). In the nucleus, acts as a hematopoietic transcription regulator derepressing a range of genes essential for normal stem cell differentiation including EBF1 and PAX5 in B-cells, ID2 in NK-cell progenitor or FLT3 in dendritic cell precursors (PubMed:24062447). Deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, leading to dissociation of histone H1 from the nucleosome (PubMed:17707232). {ECO:0000250|UniProtKB:Q69Z66, ECO:0000269|PubMed:17707232, ECO:0000269|PubMed:22169041, ECO:0000269|PubMed:24062447, ECO:0000269|PubMed:26220525, ECO:0000269|PubMed:28115216, ECO:0000269|PubMed:33086059}.
uniprot
proteins
mass_dalton
95032
uniprot
proteins
mutagenesis
MUTAGEN 669; /note="D->N: Abolishes H2A deubiquitination."; /evidence="ECO:0000269|PubMed:17707232
uniprot
proteins
protein_family
MYSM1 subfamily
uniprot
proteins
protein_family
Peptidase M67A family
uniprot
proteins
pubmed
11572484
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17428495
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17707232
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22169041
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24062447
uniprot
proteins
pubmed
24288411
uniprot
proteins
pubmed
26220525
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28115216
uniprot
proteins
pubmed
33086059
uniprot
proteins
sequence_length
828
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00624, ECO:0000269|PubMed:17707232}. Cytoplasm {ECO:0000250|UniProtKB:Q69Z66}. Note=Localizes to the cytoplasm in response to bacterial infection. {ECO:0000250|UniProtKB:Q69Z66}.
uniprot
proteins