Seroatlas · Human Serome Atlas

MYSM1

Deubiquitinase MYSM1

Also known as: KIAA1915, MYSM1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q5VVJ2
Gene
MYSM1
Ensembl
ENSG00000162601
Chromosome
1
Canonical length
828 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli

OverviewNCBI Gene

Enables deubiquitinase activity; histone binding activity; and transcription coactivator activity. Involved in chromatin remodeling; positive regulation of transcription by RNA polymerase II; and regulation of hemopoiesis. Located in nucleolus and nucleoplasm. Part of protein-containing complex. Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

828 residues, UniProt reviewed canonical sequence.

>Q5VVJ2|MYSM1
     1  MAAEEADVDI EGDVVAAAGA QPGSGENTAS VLQKDHYLDS SWRTENGLIP WTLDNTISEE
    61  NRAVIEKMLL EEEYYLSKKS QPEKVWLDQK EDDKKYMKSL QKTAKIMVHS PTKPASYSVK
   121  WTIEEKELFE QGLAKFGRRW TKISKLIGSR TVLQVKSYAR QYFKNKVKCG LDKETPNQKT
   181  GHNLQVKNED KGTKAWTPSC LRGRADPNLN AVKIEKLSDD EEVDITDEVD ELSSQTPQKN
   241  SSSDLLLDFP NSKMHETNQG EFITSDSQEA LFSKSSRGCL QNEKQDETLS SSEITLWTEK
   301  QSNGDKKSIE LNDQKFNELI KNCNKHDGRG IIVDARQLPS PEPCEIQKNL NDNEMLFHSC
   361  QMVEESHEEE ELKPPEQEIE IDRNIIQEEE KQAIPEFFEG RQAKTPERYL KIRNYILDQW
   421  EICKPKYLNK TSVRPGLKNC GDVNCIGRIH TYLELIGAIN FGCEQAVYNR PQTVDKVRIR
   481  DRKDAVEAYQ LAQRLQSMRT RRRRVRDPWG NWCDAKDLEG QTFEHLSAEE LAKRREEEKG
   541  RPVKSLKVPR PTKSSFDPFQ LIPCNFFSEE KQEPFQVKVA SEALLIMDLH AHVSMAEVIG
   601  LLGGRYSEVD KVVEVCAAEP CNSLSTGLQC EMDPVSQTQA SETLAVRGFS VIGWYHSHPA
   661  FDPNPSLRDI DTQAKYQSYF SRGGAKFIGM IVSPYNRNNP LPYSQITCLV ISEEISPDGS
   721  YRLPYKFEVQ QMLEEPQWGL VFEKTRWIIE KYRLSHSSVP MDKIFRRDSD LTCLQKLLEC
   781  MRKTLSKVTN CFMAEEFLTE IENLFLSNYK SNQENGVTEE NCTKELLM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYSM1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.49
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 11 nTPM
  • duodenum: 6.6 nTPM
  • lymph node: 6.3 nTPM
  • spleen: 6.1 nTPM
  • stomach: 5.6 nTPM
  • prostate: 5.5 nTPM

Single-cell type

  • myonuclei: 137 nCPM
  • oligodendrocytes: 108 nCPM
  • pituicytes/fscs: 106 nCPM
  • prostatic glandular cells: 106 nCPM
  • thyrotrophs: 106 nCPM
  • neutrophils: 104 nCPM

Immune cell

  • neutrophil: 0.8 nTPM
  • basophil: 0.7 nTPM
  • gdT-cell: 0.4 nTPM
  • intermediate monocyte: 0.4 nTPM
  • memory B-cell: 0.4 nTPM
  • memory CD8 T-cell: 0.4 nTPM

Brain region

  • choroid plexus: 4.2 nTPM
  • white matter: 3.7 nTPM
  • cerebral cortex: 3.4 nTPM
  • cerebellum: 3.2 nTPM
  • midbrain: 3.2 nTPM
  • medulla oblongata: 3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYSM1.

Disease | AllUniProt

Conditions MYSM1 is implicated in, by any mechanism.

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 562 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.41
gnomAD pLI
0.04
gnomAD missense Z
1.22
DepMap mean gene effect
-0.21
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MYSM1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MYSM1 as an antibody target. Whether an autoantibody or antibody against MYSM1 could matter depends on whether native MYSM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MYSM1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MYSM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MYSM1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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