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Entry version 159 (11 Dec 2019)
Sequence version 1 (07 Dec 2004)
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Protein

Histone H2A deubiquitinase MYSM1

Gene

MYSM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Metalloprotease that specifically deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Preferentially deubiquitinates monoubiquitinated H2A in hyperacetylated nucleosomes. Deubiquitination of histone H2A leads to facilitate the phosphorylation and dissociation of histone H1 from the nucleosome. Acts as a coactivator by participating in the initiation and elongation steps of androgen receptor (AR)-induced gene activation. Required for correct regulation of hematopoiesis and lymphocyte differentiation (PubMed:28115216, PubMed:26220525).3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi656Zinc; catalyticPROSITE-ProRule annotation1
Metal bindingi658Zinc; catalyticPROSITE-ProRule annotation1
Metal bindingi669Zinc; catalyticPROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Chromatin regulator, DNA-binding, Hydrolase, Metalloprotease, Protease
Biological processTranscription, Transcription regulation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5689901 Metalloprotease DUBs

Protein family/group databases

MEROPS protease database

More...
MEROPSi
M67.005

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Histone H2A deubiquitinase MYSM1 (EC:3.4.19.-)
Short name:
2A-DUB
Alternative name(s):
Myb-like, SWIRM and MPN domain-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MYSM1
Synonyms:KIAA1915
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000162601.9

Human Gene Nomenclature Database

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HGNCi
HGNC:29401 MYSM1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612176 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5VVJ2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Bone marrow failure syndrome 4 (BMFS4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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 features. 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081184390 – 828Missing in BMFS4. 2 PublicationsAdd BLAST439
Natural variantiVAR_081185656H → R in BMFS4. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi669D → N: Abolishes H2A deubiquitination. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
114803

MalaCards human disease database

More...
MalaCardsi
MYSM1
MIMi618116 phenotype

Open Targets

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OpenTargetsi
ENSG00000162601

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671301

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5VVJ2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MYSM1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74756898

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002340731 – 828Histone H2A deubiquitinase MYSM1Add BLAST828

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei110PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki187Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei218PhosphoserineCombined sources1
Modified residuei236PhosphothreonineCombined sources1
Modified residuei242PhosphoserineCombined sources1
Modified residuei267PhosphoserineCombined sources1
Modified residuei340PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q5VVJ2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5VVJ2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5VVJ2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5VVJ2

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q5VVJ2

PeptideAtlas

More...
PeptideAtlasi
Q5VVJ2

PRoteomics IDEntifications database

More...
PRIDEi
Q5VVJ2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
65467 [Q5VVJ2-1]
65468 [Q5VVJ2-2]
65469 [Q5VVJ2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5VVJ2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5VVJ2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000162601 Expressed in 196 organ(s), highest expression level in stomach

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5VVJ2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054291
HPA067133

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and KIF11/TRIP5. Binds histones.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
125363, 17 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q5VVJ2

Database of interacting proteins

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DIPi
DIP-58941N

Protein interaction database and analysis system

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IntActi
Q5VVJ2, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000418734

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5VVJ2 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1828
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q5VVJ2

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q5VVJ2

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini116 – 167SANTPROSITE-ProRule annotationAdd BLAST52
Domaini372 – 470SWIRMPROSITE-ProRule annotationAdd BLAST99
Domaini577 – 709MPNPROSITE-ProRule annotationAdd BLAST133

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi656 – 669JAMM motifPROSITE-ProRule annotationAdd BLAST14
Motifi774 – 778LXXLL motif5

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Binds double-stranded DNA via the SANT domain. The SWIRM domain does not bind double-stranded DNA.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase M67A family. MYSM1 subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1279 Eukaryota
KOG1555 Eukaryota
COG1310 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157721

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5VVJ2

KEGG Orthology (KO)

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KOi
K11865

Identification of Orthologs from Complete Genome Data

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OMAi
QAIYNRP

Database of Orthologous Groups

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OrthoDBi
590811at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5VVJ2

TreeFam database of animal gene trees

More...
TreeFami
TF324811

Family and domain databases

Conserved Domains Database

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CDDi
cd00167 SANT, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR000555 JAMM/MPN+_dom
IPR037518 MPN
IPR033497 MYSM1
IPR001005 SANT/Myb
IPR017884 SANT_dom
IPR007526 SWIRM

The PANTHER Classification System

More...
PANTHERi
PTHR12802:SF67 PTHR12802:SF67, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01398 JAB, 1 hit
PF00249 Myb_DNA-binding, 1 hit
PF04433 SWIRM, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00232 JAB_MPN, 1 hit
SM00717 SANT, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689 SSF46689, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50249 MPN, 1 hit
PS51293 SANT, 1 hit
PS50934 SWIRM, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5VVJ2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAEEADVDI EGDVVAAAGA QPGSGENTAS VLQKDHYLDS SWRTENGLIP
60 70 80 90 100
WTLDNTISEE NRAVIEKMLL EEEYYLSKKS QPEKVWLDQK EDDKKYMKSL
110 120 130 140 150
QKTAKIMVHS PTKPASYSVK WTIEEKELFE QGLAKFGRRW TKISKLIGSR
160 170 180 190 200
TVLQVKSYAR QYFKNKVKCG LDKETPNQKT GHNLQVKNED KGTKAWTPSC
210 220 230 240 250
LRGRADPNLN AVKIEKLSDD EEVDITDEVD ELSSQTPQKN SSSDLLLDFP
260 270 280 290 300
NSKMHETNQG EFITSDSQEA LFSKSSRGCL QNEKQDETLS SSEITLWTEK
310 320 330 340 350
QSNGDKKSIE LNDQKFNELI KNCNKHDGRG IIVDARQLPS PEPCEIQKNL
360 370 380 390 400
NDNEMLFHSC QMVEESHEEE ELKPPEQEIE IDRNIIQEEE KQAIPEFFEG
410 420 430 440 450
RQAKTPERYL KIRNYILDQW EICKPKYLNK TSVRPGLKNC GDVNCIGRIH
460 470 480 490 500
TYLELIGAIN FGCEQAVYNR PQTVDKVRIR DRKDAVEAYQ LAQRLQSMRT
510 520 530 540 550
RRRRVRDPWG NWCDAKDLEG QTFEHLSAEE LAKRREEEKG RPVKSLKVPR
560 570 580 590 600
PTKSSFDPFQ LIPCNFFSEE KQEPFQVKVA SEALLIMDLH AHVSMAEVIG
610 620 630 640 650
LLGGRYSEVD KVVEVCAAEP CNSLSTGLQC EMDPVSQTQA SETLAVRGFS
660 670 680 690 700
VIGWYHSHPA FDPNPSLRDI DTQAKYQSYF SRGGAKFIGM IVSPYNRNNP
710 720 730 740 750
LPYSQITCLV ISEEISPDGS YRLPYKFEVQ QMLEEPQWGL VFEKTRWIIE
760 770 780 790 800
KYRLSHSSVP MDKIFRRDSD LTCLQKLLEC MRKTLSKVTN CFMAEEFLTE
810 820
IENLFLSNYK SNQENGVTEE NCTKELLM
Length:828
Mass (Da):95,032
Last modified:December 7, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9EE635A30AF3B089
GO
Isoform 2 (identifier: Q5VVJ2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-253: Missing.

Show »
Length:575
Mass (Da):66,421
Checksum:iEC1B07CACB78B111
GO
Isoform 3 (identifier: Q5VVJ2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-594: Missing.

Show »
Length:234
Mass (Da):26,716
Checksum:iB9F47C517543A052
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A590UK32A0A590UK32_HUMAN
Histone H2A deubiquitinase MYSM1
MYSM1
509Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJD8A0A590UJD8_HUMAN
Histone H2A deubiquitinase MYSM1
MYSM1
806Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJW2A0A590UJW2_HUMAN
Histone H2A deubiquitinase MYSM1
MYSM1
573Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJT8A0A590UJT8_HUMAN
Histone H2A deubiquitinase MYSM1
MYSM1
111Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB67808 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAG54377 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti231E → G in BAG54377 (PubMed:14702039).Curated1
Sequence conflicti540G → D in BAG54377 (PubMed:14702039).Curated1
Sequence conflicti782R → G in CAH18287 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051814200C → S. Corresponds to variant dbSNP:rs17118103Ensembl.1
Natural variantiVAR_051815264T → A2 PublicationsCorresponds to variant dbSNP:rs12139511Ensembl.1
Natural variantiVAR_081184390 – 828Missing in BMFS4. 2 PublicationsAdd BLAST439
Natural variantiVAR_081185656H → R in BMFS4. 1 Publication1
Natural variantiVAR_051816825E → K. Corresponds to variant dbSNP:rs232777Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0182101 – 594Missing in isoform 3. 2 PublicationsAdd BLAST594
Alternative sequenceiVSP_0182111 – 253Missing in isoform 2. 1 PublicationAdd BLAST253

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB067502 mRNA Translation: BAB67808.1 Different initiation.
AK126835 mRNA Translation: BAG54377.1 Different initiation.
AK292919 mRNA Translation: BAF85608.1
BX537912 mRNA Translation: CAD97896.1
CR627323 mRNA Translation: CAH10370.1
CR749450 mRNA Translation: CAH18287.1
AL035411 Genomic DNA No translation available.
AL450024 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS41343.1 [Q5VVJ2-1]

NCBI Reference Sequences

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RefSeqi
NP_001078956.1, NM_001085487.2 [Q5VVJ2-1]
XP_016855684.1, XM_017000195.1
XP_016855685.1, XM_017000196.1
XP_016855686.1, XM_017000197.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000472487; ENSP00000418734; ENSG00000162601 [Q5VVJ2-1]
ENST00000622766; ENSP00000478391; ENSG00000162601 [Q5VVJ2-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
114803

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:114803

UCSC genome browser

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UCSCi
uc001cza.4 human [Q5VVJ2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB067502 mRNA Translation: BAB67808.1 Different initiation.
AK126835 mRNA Translation: BAG54377.1 Different initiation.
AK292919 mRNA Translation: BAF85608.1
BX537912 mRNA Translation: CAD97896.1
CR627323 mRNA Translation: CAH10370.1
CR749450 mRNA Translation: CAH18287.1
AL035411 Genomic DNA No translation available.
AL450024 Genomic DNA No translation available.
CCDSiCCDS41343.1 [Q5VVJ2-1]
RefSeqiNP_001078956.1, NM_001085487.2 [Q5VVJ2-1]
XP_016855684.1, XM_017000195.1
XP_016855685.1, XM_017000196.1
XP_016855686.1, XM_017000197.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CU7NMR-A117-181[»]
2DCENMR-A367-470[»]
SMRiQ5VVJ2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi125363, 17 interactors
CORUMiQ5VVJ2
DIPiDIP-58941N
IntActiQ5VVJ2, 4 interactors
STRINGi9606.ENSP00000418734

Protein family/group databases

MEROPSiM67.005

PTM databases

iPTMnetiQ5VVJ2
PhosphoSitePlusiQ5VVJ2

Polymorphism and mutation databases

BioMutaiMYSM1
DMDMi74756898

Proteomic databases

EPDiQ5VVJ2
jPOSTiQ5VVJ2
MassIVEiQ5VVJ2
MaxQBiQ5VVJ2
PaxDbiQ5VVJ2
PeptideAtlasiQ5VVJ2
PRIDEiQ5VVJ2
ProteomicsDBi65467 [Q5VVJ2-1]
65468 [Q5VVJ2-2]
65469 [Q5VVJ2-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
114803

Genome annotation databases

EnsembliENST00000472487; ENSP00000418734; ENSG00000162601 [Q5VVJ2-1]
ENST00000622766; ENSP00000478391; ENSG00000162601 [Q5VVJ2-3]
GeneIDi114803
KEGGihsa:114803
UCSCiuc001cza.4 human [Q5VVJ2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
114803
DisGeNETi114803
EuPathDBiHostDB:ENSG00000162601.9

GeneCards: human genes, protein and diseases

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GeneCardsi
MYSM1
HGNCiHGNC:29401 MYSM1
HPAiHPA054291
HPA067133
MalaCardsiMYSM1
MIMi612176 gene
618116 phenotype
neXtProtiNX_Q5VVJ2
OpenTargetsiENSG00000162601
Orphaneti508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
PharmGKBiPA142671301

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1279 Eukaryota
KOG1555 Eukaryota
COG1310 LUCA
GeneTreeiENSGT00940000157721
InParanoidiQ5VVJ2
KOiK11865
OMAiQAIYNRP
OrthoDBi590811at2759
PhylomeDBiQ5VVJ2
TreeFamiTF324811

Enzyme and pathway databases

ReactomeiR-HSA-5689901 Metalloprotease DUBs

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MYSM1 human
EvolutionaryTraceiQ5VVJ2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
114803
PharosiQ5VVJ2 Tbio

Protein Ontology

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PROi
PR:Q5VVJ2
RNActiQ5VVJ2 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162601 Expressed in 196 organ(s), highest expression level in stomach
GenevisibleiQ5VVJ2 HS

Family and domain databases

CDDicd00167 SANT, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR000555 JAMM/MPN+_dom
IPR037518 MPN
IPR033497 MYSM1
IPR001005 SANT/Myb
IPR017884 SANT_dom
IPR007526 SWIRM
PANTHERiPTHR12802:SF67 PTHR12802:SF67, 1 hit
PfamiView protein in Pfam
PF01398 JAB, 1 hit
PF00249 Myb_DNA-binding, 1 hit
PF04433 SWIRM, 1 hit
SMARTiView protein in SMART
SM00232 JAB_MPN, 1 hit
SM00717 SANT, 1 hit
SUPFAMiSSF46689 SSF46689, 2 hits
PROSITEiView protein in PROSITE
PS50249 MPN, 1 hit
PS51293 SANT, 1 hit
PS50934 SWIRM, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMYSM1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5VVJ2
Secondary accession number(s): A8KA54
, B3KX65, Q68DD3, Q6AI53, Q7Z3G8, Q96PX3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: December 7, 2004
Last modified: December 11, 2019
This is version 159 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Peptidase families
    Classification of peptidase families and list of entries
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