• Gene id: 4636

Gene Summary

• Gene Symbol: MYL5   Gene   UCSC   Ensembl
• Aliases: MYLC2
• Gene name: myosin light chain 5
• Alternate names: myosin light chain 5, myosin regulatory light chain 5, myosin, light chain 5, regulatory, myosin, light polypeptide 5, regulatory, superfast myosin regulatory light chain 2,
• Gene location: 4p16.3 (674198: 682032)     Exons: 9     NC_000004.12
• Gene summary(Entrez): This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. Thi
• OMIM: 160782

Protein Summary

• Protein general information: Q02045  
  • Name: Myosin light chain 5 (Myosin regulatory light chain 5) (Superfast myosin regulatory light chain 2) (MYLC2) (MyLC 2)
  • Length: 173  
  • Mass: 19534
  • Tissue specificity: Expressed in fetal skeletal muscle and retina.
• Sequence:

  MASRKTKKKEGGALRAQRASSNVFSNFEQTQIQEFKEAFTLMDQNRDGFIDKEDLKDTYASLGKTNVKDDELDAM
  LKEASGPINFTMFLNLFGEKLSGTDAEETILNAFKMLDPDGKGKINKEYIKRLLMSQADKMTAEEVDQMFQFASI
  DVAGNLDYKALSYVITHGEEKEE

• Structural information:
  • Protein Domains: (30..6-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (100..13-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (136..17-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • STRING: ENSP00000383023
• Other Databases: GeneCards:  MYL5  Malacards:  MYL5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0005859	muscle myosin complex	TAS	cellular component
GO:0006937	regulation of muscle contraction	TAS	biological process
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

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa04360	Axon guidance
hsa04670	Leukocyte transendothelial migration

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq