• Gene id: 4637

Gene Summary

• Gene Symbol: MYL6   Gene   UCSC   Ensembl
• Aliases: ESMLC, LC17, LC17-GI, LC17-NM, LC17A, LC17B, MLC-3, MLC1SM, MLC3NM, MLC3SM
• Gene name: myosin light chain 6
• Alternate names: myosin light polypeptide 6, 17 kDa myosin light chain, myosin light chain A3, myosin light chain alkali 3, myosin, light chain 6, alkali, smooth muscle and non-muscle, myosin, light polypeptide 6, alkali, smooth muscle and non-muscle,
• Gene location: 12q13.2 (56158358: 56161578)     Exons: 7     NC_000012.12
• Gene summary(Entrez): Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smoo
• OMIM: 609931

Protein Summary

• Protein general information: P60660  
  • Name: Myosin light polypeptide 6 (17 kDa myosin light chain) (LC17) (Myosin light chain 3) (MLC 3) (Myosin light chain alkali 3) (Myosin light chain A3) (Smooth muscle and nonmuscle myosin light chain alkali 6)
  • Length: 151  
  • Mass: 16930
• Sequence:

  MCDFTEDQTAEFKEAFQLFDRTGDGKILYSQCGDVMRALGQNPTNAEVLKVLGNPKSDEMNVKVLDFEHFLPMLQ
  TVAKNKDQGTYEDYVEGLRVFDKEGNGTVMGAEIRHVLVTLGEKMTEEEVEMLVAGHEDSNGCINYEAFVRHILS
  G

• Structural information:
  • Protein Domains: (7..4-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (84..11-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (119..15-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU004-)
  • Interpro: IPR011992  IPR002048  
  • Prosite: PS50222
  • CDD: cd00051
  • STRING: ENSP00000446955
• Other Databases: GeneCards:  MYL6  Malacards:  MYL6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003774	motor activity	TAS	molecular function
GO:0008307	structural constituent of muscle	IDA	molecular function
GO:0006936	muscle contraction	TAS	biological process
GO:0030898	actin-dependent ATPase activity	ISS	molecular function
GO:0016459	myosin complex	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016461	unconventional myosin complex	TAS	cellular component
GO:0005903	brush border	IDA	cellular component
GO:0007519	skeletal muscle tissue development	TAS	biological process
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031982	vesicle	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection
hsa04530	Tight junction
hsa04921	Oxytocin signaling pathway
hsa04270	Vascular smooth muscle contraction

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray