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MYSM1 Myb like, SWIRM and MPN domains 1 [ Homo sapiens (human) ]

Gene ID: 114803, updated on 5-Jan-2022

Summary

Official Symbol
MYSM1provided by HGNC
Official Full Name
Myb like, SWIRM and MPN domains 1provided by HGNC
Primary source
HGNC:HGNC:29401
See related
Ensembl:ENSG00000162601 MIM:612176
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
2ADUB; BMFS4; 2A-DUB
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, Nov 2021]
Expression
Ubiquitous expression in bone marrow (RPKM 8.9), lymph node (RPKM 7.4) and 25 other tissues See more
Orthologs
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Genomic context

See MYSM1 in Genome Data Viewer
Location:
1p32.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (58654739..58700091, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (59120415..59165734, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene adenylate kinase 2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3519 Neighboring gene uncharacterized LOC112268263 Neighboring gene uncharacterized LOC105378751

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bone marrow failure syndrome 4
MedGen: C4748257 OMIM: 618116 GeneReviews: Not available
Compare labs
Genome-wide association study of diabetic retinopathy in a Taiwanese population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1915, DKFZp779J1554, DKFZp779J1721

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables isopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metal-dependent deubiquitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables thiol-dependent deubiquitinase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chromatin remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in immune system process IEA
Inferred from Electronic Annotation
more info
 
involved_in monoubiquitinated histone H2A deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pigmentation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of hair follicle development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of hemopoiesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
deubiquitinase MYSM1
Names
histone H2A deubiquitinase MYSM1
myb-like, SWIRM and MPN domain-containing protein 1
NP_001078956.1
XP_006710377.1
XP_011538875.1
XP_011538876.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_065323.2 RefSeqGene

    Range
    5016..50335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1411

mRNA and Protein(s)

  1. NM_001085487.3NP_001078956.1  deubiquitinase MYSM1

    See identical proteins and their annotated locations for NP_001078956.1

    Status: VALIDATED

    Source sequence(s)
    AL035411, AL450024
    Consensus CDS
    CCDS41343.1
    UniProtKB/Swiss-Prot
    Q5VVJ2
    Related
    ENSP00000418734.1, ENST00000472487.6
    Conserved Domains (4) summary
    cd08067
    Location:571753
    MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase
    smart00717
    Location:120164
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    pfam00249
    Location:120162
    Myb_DNA-binding; Myb-like DNA-binding domain
    pfam04433
    Location:382461
    SWIRM; SWIRM domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    58654739..58700091 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710314.3XP_006710377.1  deubiquitinase MYSM1 isoform X1

    Conserved Domains (4) summary
    cd08067
    Location:571753
    MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase
    smart00717
    Location:120164
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    pfam00249
    Location:120162
    Myb_DNA-binding; Myb-like DNA-binding domain
    pfam04433
    Location:382461
    SWIRM; SWIRM domain
  2. XM_011540574.2XP_011538876.1  deubiquitinase MYSM1 isoform X3

    Conserved Domains (4) summary
    cd08067
    Location:482664
    MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase
    smart00717
    Location:3175
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    pfam00249
    Location:3173
    Myb_DNA-binding; Myb-like DNA-binding domain
    pfam04433
    Location:293372
    SWIRM; SWIRM domain
  3. XM_011540573.3XP_011538875.1  deubiquitinase MYSM1 isoform X2

    Conserved Domains (4) summary
    cd08067
    Location:504686
    MPN_2A_DUB; Mov34/MPN/PAD-1 family: Histone H2A deubiquitinase
    smart00717
    Location:5397
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    pfam00249
    Location:5395
    Myb_DNA-binding; Myb-like DNA-binding domain
    pfam04433
    Location:315394
    SWIRM; SWIRM domain

RNA

  1. XR_246231.4 RNA Sequence

    Related
    ENST00000665648.1
  2. XR_946533.2 RNA Sequence

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