Seroatlas · Human Serome Atlas

MSH5

MutS protein homolog 5

Also known as: G7, MSH5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O43196
Gene
MSH5
Ensembl
ENSG00000204410
Chromosome
6
Canonical length
834 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoli fibrillar center

OverviewNCBI Gene

This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]

Canonical amino-acid sequenceUniProt

834 residues, UniProt reviewed canonical sequence.

>O43196|MSH5
     1  MASLGANPRR TPQGPRPGAA SSGFPSPAPV PGPREAEEEE VEEEEELAEI HLCVLWNSGY
    61  LGIAYYDTSD STIHFMPDAP DHESLKLLQR VLDEINPQSV VTSAKQDENM TRFLGKLASQ
   121  EHREPKRPEI IFLPSVDFGL EISKQRLLSG NYSFIPDAMT ATEKILFLSS IIPFDCLLTV
   181  RALGGLLKFL GRRRIGVELE DYNVSVPILG FKKFMLTHLV NIDQDTYSVL QIFKSESHPS
   241  VYKVASGLKE GLSLFGILNR CHCKWGEKLL RLWFTRPTHD LGELSSRLDV IQFFLLPQNL
   301  DMAQMLHRLL GHIKNVPLIL KRMKLSHTKV SDWQVLYKTV YSALGLRDAC RSLPQSIQLF
   361  RDIAQEFSDD LHHIASLIGK VVDFEGSLAE NRFTVLPNID PEIDEKKRRL MGLPSFLTEV
   421  ARKELENLDS RIPSCSVIYI PLIGFLLSIP RLPSMVEASD FEINGLDFMF LSEEKLHYRS
   481  ARTKELDALL GDLHCEIRDQ ETLLMYQLQC QVLARAAVLT RVLDLASRLD VLLALASAAR
   541  DYGYSRPRYS PQVLGVRIQN GRHPLMELCA RTFVPNSTEC GGDKGRVKVI TGPNSSGKSI
   601  YLKQVGLITF MALVGSFVPA EEAEIGAVDA IFTRIHSCES ISLGLSTFMI DLNQVAKAVN
   661  NATAQSLVLI DEFGKGTNTV DGLALLAAVL RHWLARGPTC PHIFVATNFL SLVQLQLLPQ
   721  GPLVQYLTME TCEDGNDLVF FYQVCEGVAK ASHASHTAAQ AGLPDKLVAR GKEVSDLIRS
   781  GKPIKPVKDL LKKNQMENCQ TLVDKFMKLD LEDPNLDLNV FMSQEVLPAA TSIL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MSH5 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)
0.3
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • testis: 11 nTPM
  • kidney: 5.4 nTPM
  • prostate: 2.6 nTPM
  • liver: 2 nTPM
  • spleen: 1.9 nTPM
  • esophagus: 1.8 nTPM

Single-cell type

  • ependymal cells: 27 nCPM
  • choroid plexus epithelial cells: 21 nCPM
  • microglia: 16 nCPM
  • astrocytes: 14 nCPM
  • bergmann glia: 10 nCPM
  • other brain neurons: 6.2 nCPM

Immune cell

  • basophil: 2.5 nTPM
  • memory B-cell: 1.4 nTPM
  • plasmacytoid DC: 0.8 nTPM
  • naive B-cell: 0.6 nTPM
  • neutrophil: 0.6 nTPM
  • non-classical monocyte: 0.6 nTPM

Brain region

  • cerebral cortex: 0.9 nTPM
  • basal ganglia: 0.2 nTPM
  • choroid plexus: 0.2 nTPM
  • medulla oblongata: 0.2 nTPM
  • midbrain: 0.2 nTPM
  • white matter: 0.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MSH5.

Disease | AllUniProt

Conditions MSH5 is implicated in, by any mechanism.

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 112 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)
0.7
gnomAD pLI
0
gnomAD missense Z
1.8
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 MSH5 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 MSH5 as an antibody target. Whether an autoantibody or antibody against MSH5 could matter depends on whether native MSH5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MSH5 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 MSH5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MSH5. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...