Seroatlas · Human Serome Atlas

MYL3

Myosin light chain 3

Also known as: CMH8, MLC1SB, MLC1V, MYL3_HUMAN, VLC1

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

Protein identityUniProt · HPA

UniProt accession: P08590
Gene: MYL3
Ensembl: ENSG00000160808
Chromosome: 3
Canonical length: 195 aa
Protein class: Candidate cardiovascular disease genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoli,Mitochondria

OverviewNCBI Gene

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

195 residues, UniProt reviewed canonical sequence.

>P08590|MYL3
     1  MAPKKPEPKK DDAKAAPKAA PAPAPPPEPE RPKEVEFDAS KIKIEFTPEQ IEEFKEAFML
    61  FDRTPKCEMK ITYGQCGDVL RALGQNPTQA EVLRVLGKPR QEELNTKMMD FETFLPMLQH
   121  ISKNKDTGTY EDFVEGLRVF DKEGNGTVMG AELRHVLATL GERLTEDEVE KLMAGQEDSN
   181  GCINYEAFVK HIMSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYL3 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): 0.42
Highest tissue expression: 8,764 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 8,764 nTPM
skeletal muscle: 4,814 nTPM
tongue: 1,936 nTPM
esophagus: 148 nTPM
kidney: 52 nTPM
blood vessel: 50 nTPM

Single-cell type

myonuclei: 730 nCPM
cardiomyocytes: 342 nCPM
epicardial cells: 59 nCPM
breast lactating cells: 27 nCPM
podocytes: 27 nCPM
extravillous trophoblasts: 26 nCPM

Immune cell

naive B-cell: 0.4 nTPM
plasmacytoid DC: 0.4 nTPM
neutrophil: 0.3 nTPM
gdT-cell: 0.2 nTPM
memory CD8 T-cell: 0.2 nTPM
eosinophil: 0.1 nTPM

Brain region

medulla oblongata: 21 nTPM
spinal cord: 17 nTPM
midbrain: 16 nTPM
white matter: 16 nTPM
hypothalamus: 16 nTPM
thalamus: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYL3.

Disease | AllUniProt

Conditions MYL3 is implicated in, by any mechanism.

Cardiomyopathy, familial hypertrophic, 8 (CMH8) MIM:608751

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 501 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 8
Cardiovascular phenotype
Cardiomyopathy
Primary familial hypertrophic cardiomyopathy

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): 0.9
gnomAD pLI: 0.09
gnomAD missense Z: 0.76
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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 MYL3 as an antibody target. Whether an autoantibody or antibody against MYL3 could matter depends on whether native MYL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MYL3 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 MYL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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