MYLK2

Last updated
MYLK2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MYLK2 , KMLC, MLCK, MLCK2, skMLCK, myosin light chain kinase 2
External IDs OMIM: 606566 MGI: 2139434 HomoloGene: 13223 GeneCards: MYLK2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_033118

NM_001081044

RefSeq (protein)

NP_149109

NP_001074513

Location (UCSC) Chr 20: 31.82 – 31.83 Mb Chr 2: 152.91 – 152.92 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Myosin light chain kinase 2 also known as MYLK2 is an enzyme which in humans is encoded by the MYLK2 gene. [5]

Contents

Function

This gene encodes a myosin light chain kinase, a calcium / calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [6] The MYLK2 gene expresses skMLCK more prevalently in fast twitch muscle fibers as compared to slow twitch muscle fibers. Calmodulin is composed of two terminal domains (N,C) each containing two E-F hand motifs that bind to Ca2+. Upon saturation of Ca2+, Calmodulin undergoes a conformation change allowing it to bind with a target protein such as skMLCK. An image depicting a similar complex (sdCen/skMLCK2) is shown under myosin light chain kinase. This binding to skMLCK increases the affinity of Ca2+ and ultimately leads to a sustained muscle action. [7]

Clinical significance

Mutations in the MYLK2 gene have been linked to midventricular hypertrophic cardiomyopathy. [5]

Related Research Articles

Telokin

Telokin is an abundant protein found in smooth-muscle. It is identical to the C-terminus of myosin light-chain kinase. Telokin may play a role in the stabilization of unphosphorylated smooth-muscle myosin filaments. Because of its origin as the C-terminal end of smooth muscle myosin light chain kinase, it is called "telokin".

Myosin light-chain kinase Class of kinase enzymes

Myosin light-chain kinase also known as MYLK or MLCK is a serine/threonine-specific protein kinase that phosphorylates a specific myosin light chain, namely, the regulatory light chain of myosin II.

MYL9

Myosin regulatory light polypeptide 9 is a protein that in humans is encoded by the MYL9 gene.

CAMK2G

Calcium/calmodulin-dependent protein kinase type II gamma chain is an enzyme that in humans is encoded by the CAMK2G gene.

MYL2

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC-2) also known as the regulatory light chain of myosin (RLC) is a protein that in humans is encoded by the MYL2 gene. This cardiac ventricular RLC isoform is distinct from that expressed in skeletal muscle (MYLPF), smooth muscle (MYL12B) and cardiac atrial muscle (MYL7).

PHKG1

Phosphorylase b kinase gamma catalytic chain, skeletal muscle isoform is an enzyme that in humans is encoded by the PHKG1 gene.

MYH2

Myosin-2 is a protein that in humans is encoded by the MYH2 gene.

Obscurin

Obscurin is a protein that in humans is encoded by the OBSCN gene. Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin. Obscurin is expressed in cardiac and skeletal muscle, and plays a role in the organization of myofibrils during sarcomere assembly. A mutation in the OBSCN gene has been associated with hypertrophic cardiomyopathy and altered obscurin protein properties have been associated with other muscle diseases.

MYH1

Myosin-1, also known as 'striated muscle myosin heavy chain 1', is a protein that in humans is encoded by the MYH1 gene. This gene is most highly expressed in fast type IIX/D muscle fibres of vertebrates and encodes a protein found uniquely in striated muscle; it is a class II myosin with a long coiled coil tail that dimerizes and should not be confused with 'Myosin 1' encoded by the MYO1 family of genes (MYO1A-MYO1H). Class I MYO1 genes function in many cell types throughout biology and are single-headed membrane-binding myosins that lack a long coiled coil tail.

MYL1

Myosin light chain 3, skeletal muscle isoform is a protein that in humans is encoded by the MYL1 gene.

PPP1R12B

Protein phosphatase 1 regulatory subunit 12B is an enzyme that in humans is encoded by the PPP1R12B gene.

SPEG

Striated muscle preferentially expressed protein kinase, in the human is encoded by the SPEG gene, a member of the myosin light chain kinase protein family. SPEG is involved in the development of the muscle cell cytoskeleton, and the expression of this gene has important roles in the development of skeletal muscles, and their maintenance and function. Mutations are associated with centronuclear myopathies a group of congenital disorders where the cell nuclei are abnormally centrally placed.

MYL6 Protein-coding gene in the species Homo sapiens

Myosin light polypeptide 6 is a protein that in humans is encoded by the MYL6 gene.

Phosphorylase kinase, alpha 1

Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform is an enzyme that in humans is encoded by the PHKA1 gene. It is the muscle isoform of Phosphorylase kinase (PhK).

MYH3

Myosin-3 is a protein that in humans is encoded by the MYH3 gene.

MYLK Gene of the immunoglobulin superfamily

Myosin light chain kinase, smooth muscle also known as kinase-related protein (KRP) or telokin is an enzyme that in humans is encoded by the MYLK gene.

MYL6B

Myosin light chain 6B is a protein that in humans is encoded by the MYL6B gene.

MYLK3

Myosin light chain kinase 3 also known as MYLK3, is an enzyme which in humans is encoded by the MYLK3 gene.

MYH7B

Myosin-7B also known as myosin, heavy chain 7B is a protein that in humans is encoded by the MYH7B gene.

MYH4

Myosin-4 also known as myosin, heavy chain 4 is a protein which in humans is encoded by the MYH4 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000101306 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027470 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND (November 2001). "The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation". Cell. 107 (5): 631–41. doi: 10.1016/S0092-8674(01)00586-4 . PMID   11733062. S2CID   778253.
  6. "Entrez Gene: MYLK2 myosin light chain kinase 2, skeletal muscle".
  7. Stull JT, Kamm KE, Vandenboom R (February 2011). "Myosin light chain kinase and the role of myosin light chain phosphorylation in skeletal muscle". Arch Biochem Biophys. 510 (2): 120–8. doi:10.1016/j.abb.2011.01.017. PMC   3101293 . PMID   21284933.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.