Seroatlas · Human Serome Atlas

MYOT

Myotilin

Also known as: LGMD1, LGMD1A, MYOTI_HUMAN, TTID

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

Protein identityUniProt · HPA

UniProt accession: Q9UBF9
Gene: MYOT
Ensembl: ENSG00000120729
Chromosome: 5
Canonical length: 498 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

498 residues, UniProt reviewed canonical sequence.

>Q9UBF9|MYOT
     1  MFNYERPKHF IQSQNPCGSR LQPPGPETSS FSSQTKQSSI IIQPRQCTEQ RFSASSTLSS
    61  HITMSSSAFP ASPKQHAGSN PGQRVTTTYN QSPASFLSSI LPSQPDYNSS KIPSAMDSNY
   121  QQSSAGQPIN AKPSQTANAK PIPRTPDHEI QGSKEALIQD LERKLKCKDT LLHNGNQRLT
   181  YEEKMARRLL GPQNAAAVFQ AQDDSGAQDS QQHNSEHARL QVPTSQVRSR STSRGDVNDQ
   241  DAIQEKFYPP RFIQVPENMS IDEGRFCRMD FKVSGLPAPD VSWYLNGRTV QSDDLHKMIV
   301  SEKGLHSLIF EVVRASDAGA YACVAKNRAG EATFTVQLDV LAKEHKRAPM FIYKPQSKKV
   361  LEGDSVKLEC QISAIPPPKL FWKRNNEMVQ FNTDRISLYQ DNTGRVTLLI KDVNKKDAGW
   421  YTVSAVNEAG VTTCNTRLDV TARPNQTLPA PKQLRVRPTF SKYLALNGKG LNVKQAFNPE
   481  GEFQRLAAQS GLYESEEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYOT 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.54
Highest tissue expression: 2,045 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 2,045 nTPM
tongue: 1,904 nTPM
esophagus: 33 nTPM
prostate: 19 nTPM
salivary gland: 18 nTPM
heart muscle: 16 nTPM

Single-cell type

myonuclei: 3,615 nCPM
thymic myoid cells: 638 nCPM
cardiomyocytes: 280 nCPM
schwann cells: 162 nCPM
adipocytes: 28 nCPM
myosatellite cells: 20 nCPM

Immune cell

plasmacytoid DC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

basal ganglia: 13 nTPM
white matter: 10 nTPM
midbrain: 9.5 nTPM
thalamus: 8.5 nTPM
medulla oblongata: 7.4 nTPM
pons: 6.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYOT.

Disease | AllUniProt

Conditions MYOT is implicated in, by any mechanism.

Myopathy, myofibrillar, 3 (MFM3) MIM:609200

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 504 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Myofibrillar myopathy 3
Progressive distal muscle weakness
Progressive proximal muscle weakness
8 conditions
Myofibrillar myopathy

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): 0.93
gnomAD pLI: 0
gnomAD missense Z: 0.55
DepMap mean gene effect: -0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 MYOT 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 MYOT as an antibody target. Whether an autoantibody or antibody against MYOT could matter depends on whether native MYOT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MYOT is annotated at the cell surface, where native MYOT is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

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

Loading the interactive Seroatlas protein explorer...