MYLK - myosin light chain kinase Gene
Also Known as KRP; AAT7; MLCK; MLCK1; MMIHS; MYLK1; MMIHS1; MYLK-L; smMLCK; MLCK108; MLCK210; MSTP083
Species: Homo sapiens
About MYLK
This gene has 57 transcripts (splice variants), 236 orthologues, 4 paralogues and is associated with 5 phenotypes. Broad expression in prostate (RPKM 187.5), endometrium (RPKM 154.5) and 18 other tissues.
Summary
This gene, a muscle member of the immunoglobulin gene superfamily, encodes Myosin light chain kinase which is a calcium/Calmodulin dependent enzyme. This kinase phosphorylates Myosin regulatory light chains to facilitate Myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of Myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated Myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/Calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]
MYLK Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001321309.2 | NP_001308238.1 | myosin light chain kinase, smooth muscle isoform 9 |
| NM_053025.4 | NP_444253.3 | myosin light chain kinase, smooth muscle isoform 1 |
| NM_053026.4 | NP_444254.3 | myosin light chain kinase, smooth muscle isoform 2 |
| NM_053027.4 | NP_444255.3 | myosin light chain kinase, smooth muscle isoform 3A |
| NM_053028.4 | NP_444256.3 | myosin light chain kinase, smooth muscle isoform 3B |
| NM_053031.4 | NP_444259.1 | myosin light chain kinase, smooth muscle isoform 7 |
| NM_053032.4 | NP_444260.1 | myosin light chain kinase, smooth muscle isoform 8 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables myosin light chain kinase activity |
IDA
IDA: Inferred from direct assay
|
16284075 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17474147 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in aorta smooth muscle tissue morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
21055718 | GOA |
| involved in bleb assembly |
IMP
IMP: Inferred from mutant phenotype
|
20181817 | GOA |
| involved in cellular hypotonic response |
IDA
IDA: Inferred from direct assay
|
11976941 | GOA |
| involved in positive regulation of calcium ion transport |
IDA
IDA: Inferred from direct assay
|
16284075 | GOA |
| involved in positive regulation of cell migration |
IDA
IDA: Inferred from direct assay
|
19826488 | GOA |
| involved in positive regulation of wound healing |
IDA
IDA: Inferred from direct assay
|
15825080 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cleavage furrow |
IDA
IDA: Inferred from direct assay
|
15020676 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
20053363 | GOA |
| located in lamellipodium |
IDA
IDA: Inferred from direct assay
|
20053363 | GOA |
| located in stress fiber |
IDA
IDA: Inferred from direct assay
|
15020676 | GOA |
MYLK Protein Structure
I-set: Immunoglobulin I-set domain (33 - 123)
I-set: Immunoglobulin I-set domain (161 - 250)
I-set: Immunoglobulin I-set domain (414 - 504)
I-set: Immunoglobulin I-set domain (514 - 600)
I-set: Immunoglobulin I-set domain (624 - 712)
I-set: Immunoglobulin I-set domain (722 - 809)
I-set: Immunoglobulin I-set domain (1098 - 1187)
I-set: Immunoglobulin I-set domain (1238 - 1327)
fn3: Fibronectin type III domain (1334 - 1416)
Pkinase: Protein kinase domain (1464 - 1719)
I-set: Immunoglobulin I-set domain (1809 - 1899)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1800
- 1914 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
myosin light chain kinase, smooth muscle |
|
MYLK Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
MYLK | Q15746 | GOPC | Homo sapiens | Q9HD26 | 25416956 | |
|
Intra
|
MYLK | Q15746 | GOPC | Homo sapiens | Q9HD26 | 25416956 | |
|
Intra
|
MYLK | Q15746 | NCK1 | Homo sapiens | P16333 | 17474147 |
MYLK Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80236 | Myosin light chain kinase/MLCK Antibody (YA277) | WB, ICC/IF, IHC-P, FC | Human, Mouse, Rat |
| HY-P84598 | Myosin light chain kinase/MLCK Antibody (YA4295) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse |
| HY-P84598A | Myosin light chain kinase/MLCK Antibody (YA4295)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
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| Aortic Aneurysm, Familial Thoracic 7 |
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| Visceral Myopathy 1 |
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| Aortic Aneurysm, Familial Thoracic 1 |
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| Microcolon |
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| Aortic Aneurysm |
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| Giardiasis |
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| Asthma |
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| Fibromuscular Dysplasia |
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| Cervical Cancer |
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| Hydronephrosis |
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| Ataxia-Telangiectasia |
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| Aortic Valve Disease 1 |
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| Loeys-Dietz Syndrome |
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| Ehlers-Danlos Syndrome, Vascular Type |
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| Aortic Dissection |
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| Loeys-Dietz Syndrome 3 |
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| Arterial Tortuosity Syndrome |
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| Stickler Syndrome, Type I |
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| Transient Refractive Change |
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| Prune Belly Syndrome |
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| Breast Cancer |
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| Lethal Congenital Contracture Syndrome 4 |
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| Intestinal Pseudo-Obstruction |
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| Myopathy |
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| Patent Ductus Arteriosus 1 |
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| Ehlers-Danlos Syndrome |
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| Moyamoya Disease 1 |
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| Hypertension, Essential |
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| Cardiomyopathy, Familial Hypertrophic, 1 |
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| Celiac Disease 1 |
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| Hypertrophic Cardiomyopathy |
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| Dilated Cardiomyopathy |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | MYLK | VGNC | VGNC:102782 |
| Canis familiaris | MYLK | VGNC | VGNC:43549 |
| Rattus norvegicus | MYLK | RGD | RGD:1310915 |
| Macaca mulatta | MYLK | VGNC | VGNC:75107 |
| Mus musculus | MYLK | MGD | MGI:894806 |
| Others | MYLK | NCBI |