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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYL5
myosin light chain 5
Chromosome 4 · 4p16.3
NCBI Gene: 4636Ensembl: ENSG00000215375.8HGNC: HGNC:7586UniProt: Q02045
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
calcium ion bindingcytoplasmstructural constituent of muscleregulation of muscle contractionretinitis pigmentosaneurodegenerative diseasecongenital stationary night blindnessAlzheimer disease
✦AI Summary

MYL5 (myosin light chain 5) is a regulatory myosin light chain protein with diverse cellular functions. Structurally, MYL5 contains evolutionarily conserved motifs important for calcium binding and phosphorylation 1, localized to the muscle myosin complex where it regulates muscle contraction. Beyond its classical role in skeletal muscle physiology, MYL5 functions as a chr4-associated nuclear protein that regulates gene transcription 2. Muscle physiology studies demonstrate MYL5 expression changes during strength training-induced muscle hypertrophy and recovery, suggesting involvement in transcriptional regulation of muscle adaptation 3. MYL5 expression is associated with insulin resistance response to exercise, with differential patterns between young and older subjects 4. Clinically, MYL5 dysregulation has emerged as a cancer-associated marker. In cervical carcinoma, MYL5 overexpression correlates with metastasis and poor survival; MYL5 bidirectionally regulates hypoxia-inducible factor-1α (HIF-1α) to promote cancer progression 2. In breast cancer, high MYL5 expression associates with favorable prognosis and correlates with immune cell infiltration patterns 5. MYL5 appears co-expressed with other genes in colon cancer prognostic networks 6. Genomically, MYL5 maps to chromosome 4.3 1 and has been identified in deletions associated with retinal degeneration 7 and ring chromosome 4 syndrome 8, suggesting potential developmental importance.

Sources cited
1
MYL5 encodes a regulatory myosin light chain with conserved calcium-binding and phosphorylation motifs, maps to chromosome 4p16.3, and is expressed in retina, cerebellum, basal ganglia, and fetal muscle
PMID: 1284596
2
MYL5 is a differentially expressed gene in previously trained muscle following strength training and detraining, associated with muscle memory mechanisms
PMID: 39159314
3
MYL5 functions as a nuclear chromatin-associated protein that bidirectionally regulates HIF-1α to promote cervical cancer metastasis and associates with poor prognosis
PMID: 29109775
4
MYL5 expression is reversed by exercise in insulin-resistant patients, suggesting roles in metabolic adaptation to exercise
PMID: 29072034
5
MYL5 high expression correlates with better prognosis in breast cancer and associates with immune cell infiltration including B cells, T cells, and macrophages
PMID: 36846347
6
MYL5 shows strong co-expression correlation with PIM3 in colon cancer prognostic networks
PMID: 33928496
7
MYL5 is located in a genomic region where deletions affect the 5' UTR, associated with retinal degeneration
PMID: 36376065
8
MYL5 is among genes deleted in ring chromosome 4 syndrome cases
PMID: 32761591
Disease Associationsⓘ20
retinitis pigmentosaOpen Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.32Weak
congenital stationary night blindnessOpen Targets
0.15Weak
Alzheimer diseaseOpen Targets
0.14Weak
lysosomal storage diseaseOpen Targets
0.14Weak
multiple sclerosisOpen Targets
0.14Weak
Parkinson diseaseOpen Targets
0.14Weak
breast cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
cervical cancerOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
pyogenic granulomaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.02Suggestive
Duchenne muscular dystrophyOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACTBProtein interaction99%MYLK2Protein interaction99%ACTG1Protein interaction98%MYL6BProtein interaction97%ROCK2Protein interaction95%MYH14Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Lung
76%
Bone Marrow
69%
Heart
37%
Ovary
36%
Brain
16%
Gene Interaction Network
Click a node to explore
MYL5ACTBMYLK2ACTG1MYL6BROCK2MYH14
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q02045
View on AlphaFold ↗
RankingsWhere MYL5 stands among ~20K protein-coding genes
  • #16,229of 20,598
    Most Researched13
Genes detectedMYL5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Muscle memory in humans: evidence for myonuclear permanence and long-term transcriptional regulation after strength training.
PMID: 39159314
J Physiol · 2024
1.00
2
The Bidirectional Regulation between MYL5 and HIF-1α Promotes Cervical Carcinoma Metastasis.
PMID: 29109775
Theranostics · 2017
0.90
3
The genomic organization of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates.
PMID: 1284596
Hum Mol Genet · 1992
0.80
4
Effects of PIM3 in prognosis of colon cancer.
PMID: 33928496
Clin Transl Oncol · 2021
0.70
5
MYL5 as a Novel Prognostic Marker is Associated with Immune Infiltrating in Breast Cancer: A Preliminary Study.
PMID: 36846347
Breast J · 2023
0.60