MYL1 (myosin light chain 1)

2008-07-01 Affiliation

Identity

HGNC

MYL1

LOCATION

2q34

LOCUSID

4632

ALIAS

MLC1F,MLC3F,MYOFTA

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4632
MIM: 160780
HGNC: 7582
Ensembl: ENSG00000168530

Variants:

dbSNP: 4632
ClinVar: 4632
TCGA: ENSG00000168530
COSMIC: MYL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000168530	ENST00000341685	P05976
ENSG00000168530	ENST00000352451	P05976

Expression (GTEx)

500

1000

1500

2000

2500

3000

3500

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Muscle contraction	REACTOME	R-HSA-397014
Striated Muscle Contraction	REACTOME	R-HSA-390522

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37679666	2023	Analysis of myosin genes in HNSCC and identify MYL1 as a specific poor prognostic biomarker, promotes tumor metastasis and correlates with tumor immune infiltration in HNSCC.	5
37679666	2023	Analysis of myosin genes in HNSCC and identify MYL1 as a specific poor prognostic biomarker, promotes tumor metastasis and correlates with tumor immune infiltration in HNSCC.	5
33499774	2021	MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.	6
34596111	2021	MYL2 as a potential predictive biomarker for rhabdomyosarcoma.	1
33499774	2021	MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.	6
34596111	2021	MYL2 as a potential predictive biomarker for rhabdomyosarcoma.	1
29102634	2018	Transient interaction between the N-terminal extension of the essential light chain-1 and motor domain of the myosin head during the ATPase cycle.	2
30215711	2018	Bi-allelic mutations in MYL1 cause a severe congenital myopathy.	19
29102634	2018	Transient interaction between the N-terminal extension of the essential light chain-1 and motor domain of the myosin head during the ATPase cycle.	2
30215711	2018	Bi-allelic mutations in MYL1 cause a severe congenital myopathy.	19
26473445	2017	Intron polymorphism in MYL1 gene is associated with individual cardiac trainability to endurance training in human myocardium.	3
28427997	2017	Distinct sequences and post-translational modifications in cardiac atrial and ventricular myosin light chains revealed by top-down mass spectrometry.	21
28618653	2017	Myosin regulatory light chain phosphorylation is associated with leiomyosarcoma development.	5
26473445	2017	Intron polymorphism in MYL1 gene is associated with individual cardiac trainability to endurance training in human myocardium.	3
28427997	2017	Distinct sequences and post-translational modifications in cardiac atrial and ventricular myosin light chains revealed by top-down mass spectrometry.	21

Citation

Dessen P

MYL1 (myosin light chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50200/myl1-(myosin-light-chain-1)