MYSM1 - Myb like, SWIRM and MPN domains 1 Gene

Homo sapiens

Also known as 2ADUB; BMFS4; 2A-DUB

Gene ID: 114803 | Gene type: protein coding

About MYSM1

Cytogenetic location: 1p32.1 Genomic coordinates (GRCh38): 1:58,654,743-58,700,062 (from NCBI)

This gene has 26 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 8.9), lymph node (RPKM 7.4) and 25 other tissues.

Summary

Enables histone binding activity; peptidase activity; and transcription coactivator activity. Involved in several processes, including chromatin remodeling; monoubiquitinated histone H2A deubiquitination; and positive regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Part of protein-containing complex. Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Apr 2022]

MYSM1 Products(1)

mRNA	Protein	Name
NM_001085487.3	NP_001078956.1	deubiquitinase MYSM1

MYSM1 Protein Structure

Myb_DNA-binding

SWIRM

JAB

0
200
400
600
828 a.a.

Protein Preferred Names

Protein Names

deubiquitinase MYSM1

histone H2A deubiquitinase MYSM1

Related Diseases

Diseases

Alias

Bone Marrow Failure Syndrome 4

BMFS4

Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome

Mysm1 Deficiency

Hepatic Venoocclusive Disease With Immunodeficiency

VODI	Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatic Veno-Occlusive Disease With Immunodeficiency	Familial Veno-Occlusive Disease With Immunodeficiency
Veno-Occlusive Disease And Immunodeficiency Syndrome	Vodi Syndrome
Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Inflammatory Bowel Disease 1

Inflammatory Bowel Disease 1	IBD1
Crohn Disease-Associated Growth Failure	Crohn Disease
Regional Enteritis	Ulcerative Colitis
Crohn Disease-Associated Growth Failure, Susceptibility To	Inflammatory Bowel Disease 1, Crohn Disease
Bowel Disease, Inflammatory, Type 1

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08972	MYSM1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MYSM1	RGD	RGD:1311787
Macaca mulatta	MYSM1	VGNC	VGNC:75039
Canis familiaris	MYSM1	VGNC	VGNC:43590
Mus musculus	MYSM1	MGD	MGI:2444584
Felis catus	MYSM1	VGNC	VGNC:63698
Bos taurus	MYSM1	VGNC	VGNC:31847

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