Seroatlas · Human Serome Atlas

LMOD3

Leiomodin-3

Also known as: LMOD3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q0VAK6
Gene
LMOD3
Ensembl
ENSG00000163380
Chromosome
3
Canonical length
560 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]

Canonical amino-acid sequenceUniProt

560 residues, UniProt reviewed canonical sequence.

>Q0VAK6|LMOD3
     1  MSEHSRNSDQ EELLDEEINE DEILANLSAE ELKELQSEME VMAPDPSLPV GMIQKDQTDK
    61  PPTGNFNHKS LVDYMYWEKA SRRMLEEERV PVTFVKSEEK TQEEHEEIEK RNKNMAQYLK
   121  EKLNNEIVAN KRESKGSSNI QETDEEDEEE EDDDDDDEGE DDGEESEETN REEEGKAKEQ
   181  IRNCENNCQQ VTDKAFKEQR DRPEAQEQSE KKISKLDPKK LALDTSFLKV STRPSGNQTD
   241  LDGSLRRVRK NDPDMKELNL NNIENIPKEM LLDFVNAMKK NKHIKTFSLA NVGADENVAF
   301  ALANMLRENR SITTLNIESN FITGKGIVAI MRCLQFNETL TELRFHNQRH MLGHHAEMEI
   361  ARLLKANNTL LKMGYHFELP GPRMVVTNLL TRNQDKQRQK RQEEQKQQQL KEQKKLIAML
   421  ENGLGLPPGM WELLGGPKPD SRMQEFFQPP PPRPPNPQNV PFSQRSEMMK KPSQAPKYRT
   481  DPDSFRVVKL KRIQRKSRMP EAREPPEKTN LKDVIKTLKP VPRNRPPPLV EITPRDQLLN
   541  DIRHSSVAYL KPVQLPKELA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LMOD3 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)
0.52
Highest tissue expression
431 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 431 nTPM
  • tongue: 213 nTPM
  • heart muscle: 104 nTPM
  • salivary gland: 8.5 nTPM
  • esophagus: 6.1 nTPM
  • prostate: 3.6 nTPM

Single-cell type

  • thymic myoid cells: 417 nCPM
  • oocytes: 345 nCPM
  • myonuclei: 242 nCPM
  • gonadotrophs: 36 nCPM
  • cardiomyocytes: 27 nCPM
  • cone photoreceptor cells: 19 nCPM

Immune cell

  • basophil: 1.6 nTPM
  • eosinophil: 0.4 nTPM
  • memory CD4 T-cell: 0.4 nTPM
  • naive CD8 T-cell: 0.4 nTPM
  • neutrophil: 0.4 nTPM
  • non-classical monocyte: 0.4 nTPM

Brain region

  • midbrain: 5.7 nTPM
  • cerebral cortex: 1.7 nTPM
  • white matter: 1.6 nTPM
  • amygdala: 1.3 nTPM
  • basal ganglia: 1.3 nTPM
  • cerebellum: 1.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LMOD3.

Disease | AllUniProt

Conditions LMOD3 is implicated in, by any mechanism.

Disease | GeneticClinVar

48 pathogenic / likely-pathogenic of 461 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Nemaline myopathy 10
  • LMOD3-related disorder

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)
1.14
gnomAD pLI
0
gnomAD missense Z
-0.62
DepMap mean gene effect
-0.08
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 LMOD3 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 LMOD3 as an antibody target. Whether an autoantibody or antibody against LMOD3 could matter depends on whether native LMOD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LMOD3 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 LMOD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LMOD3. 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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