Seroatlas · Human Serome Atlas

MUTYH

Adenine DNA glycosylase

Also known as: MUTYH_HUMAN, MYH

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

Protein identityUniProt · HPA

UniProt accession
Q9UIF7
Gene
MUTYH
Ensembl
ENSG00000132781
Chromosome
1
Canonical length
546 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

546 residues, UniProt reviewed canonical sequence.

>Q9UIF7|MUTYH
     1  MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG
    61  APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL
   121  DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG
   181  RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL
   241  CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE
   301  SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS
   361  RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE
   421  LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT
   481  AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS
   541  LNSAAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MUTYH 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)
0.37
Highest tissue expression
10 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 10 nTPM
  • thymus: 9.1 nTPM
  • lymph node: 7.2 nTPM
  • spleen: 7.1 nTPM
  • ovary: 6.6 nTPM
  • tonsil: 6.6 nTPM

Single-cell type

  • proximal tubule cells: 10 nCPM
  • foveolar cells: 9.2 nCPM
  • loop of henle epithelial cells: 8.5 nCPM
  • enteric stem cells: 8.4 nCPM
  • goblet cells: 8 nCPM
  • renal connecting tubule cells: 7.9 nCPM

Immune cell

  • MAIT T-cell: 17 nTPM
  • T-reg: 14 nTPM
  • naive CD4 T-cell: 13 nTPM
  • naive CD8 T-cell: 12 nTPM
  • intermediate monocyte: 12 nTPM
  • memory CD4 T-cell: 12 nTPM

Brain region

  • cerebellum: 19 nTPM
  • white matter: 15 nTPM
  • pons: 12 nTPM
  • medulla oblongata: 12 nTPM
  • midbrain: 12 nTPM
  • basal ganglia: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MUTYH.

Disease | AllUniProt

Conditions MUTYH is implicated in, by any mechanism.

Disease | GeneticClinVar

420 pathogenic / likely-pathogenic of 4,178 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)
1.19
gnomAD pLI
0
gnomAD missense Z
-0.21
DepMap mean gene effect
-0.12
DepMap dependency class
selective

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

Antibody and autoantibody relevanceSeroatlas analysis

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

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

Canonical record: https://seroatlas.com/gene/MUTYH. 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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