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FLASH GENE

Symbol

MYLK

contributors: mct - updated : 25-08-2010

HGNC name	myosin light chain kinase
HGNC id	7590

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3q21.1      Physical location : 123.331.144 - 123.603.149
Synonym name	smooth muscle myosin light chain kinase
	myosin, like chain kinase, Ca2+/calmodulin dependent, smooth muscle, non muscle MLC and KRP-related kinase (telokin) common gene
	myosin, light polypeptide kinase
	telokin
Synonym symbol(s)	MLCK, FLJ12216, KRP, MLCK108, MLCK210, MSTP083, MYLK1, MLCK1, DKFZp686I10125, smMLCK
EC.number	2.7.11.18, 2.7.11.8

DNA

TYPE	functioning gene
STRUCTURE	272.01 kb     34 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	at least two promoters

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D3S1278 - D3S3529 - D3S3379 - D3S1558 - D3S3515 - D3S3513 - D3S3709 - D3S3576 - D3S1267 - D3S3645 - MYLK /D3S3552 - D3S3519 - D3S3646 - D3S1269 - D3S3569 - D3S1551 - qter

Physical map

regionally located

not closely linked to olfactory receptor genes

RNA

TRANSCRIPTS	type	messenger

text	smooth muscle MLCK

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_053032 3 - 2679 NP_444260 - 154 - 2010 21055718 also called SM-MLCK or variant 8 NM_053025 34 - 7852 NP_444253 210.7 1914 . adult, fetal tissues, nervous system (neurons, glia) and liver, lung, kidney, brain (hippocampus, entorhinal and frontal cortex), eye, aortic tissue . limited to well differentiated enterocytes, and this expression correlates closely with development of Na(+)-nutrient cotransport-dependent tight junction 2010 21055718 also called variant 1 or non muscle MLCK1 full lenght of NM-MLCK isoform responsible for tight junction regulation in absorptive enterocytes elevated hydrostatic pressure in glaucomas, increased the expression MYLK-210 in astrocytes NM_053031 3 - 2676 NP_444259 17 153 some smooth muscles, eye not in aorta, brain 2010 21055718 alsos called KRP or variant 7 encodes the shorter isoform of kinase related protein, telokin first exon corresponds to intron 30 and the remainder of the transcript corresponds to the last two exons of the gene elevated hydrostatic pressure in glaucomas, increased the expression MYLK-130 in astrocytes noncatalytic protein product that affects calcium sensitivity of contraction, primarily in intestinal smooth muscle NM_053026 33 - 7645 NP_444254 203.1 1845 adult, fetal tissues Lazar, Chilcoat (2008), Miao (2010) also called MLCK2 or variant 2 internal deletion NM_053027 33 - 7699 NP_444255 205.1 1863 adult, fetal tissues Lazar, Chilcoat (2008) also called MLCK3a/b or variant 3A internal deletion does not utilize exon 30 NM_053028 32 - 7492 NP_444256 197.4 1794 adult, fetal tissues Lazar, Chilcoat (2008) also called MLCK4 or variant 3B internal deletion does not utilize exons 11 and 30

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive esophagus       highly   intestine small intestine     highly Reproductive male system prostate     highly Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminus of the long MLCK inducing a disruption in normal spindle morphology and metaphase arrest
	three C2-type Ig-like domains
	a kinase domain
	a regulatory Ca2+ binding domains

HOMOLOGY

Homologene

FAMILY	protein kinase superfamily
	CAMK Ser/Thr protein kinase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
text	at the intercalated discs of cardiac myocytes

basic FUNCTION	perijunctional myosin light chain kinase, stimulating myosin ATPase activity without phosphorylating myosin light chain
	key enzyme in muscle contraction
	has an unexpected regulatory function during mitosis
	activation of perijunctional myosin light chain kinase (MLCK) is sufficient to enhance paracellular permeability and is required for tight junction barrier regulation in response to Na+-nutrient cotransport, inflammatory cytokines, or pathogenic bacteria
	its activation is sufficient to enhance paracellular permeability and is required for tight junction barrier regulation in response to Na+-nutrient cotransport, inflammatory cytokines, or pathogenic bacteria

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	phosphorylating myosin light chain
	interacting with TJP1 (MYLK activity is critical to TJP1, but not claudin-1, occludin, or actin) exchange at the tight junction)

cell & other

REGULATION

Other

Ca2+/calmodulin dependent

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to familial thoracic aortic aneurysms leading to acute aortic dissections

Variant & Polymorphism other	heterozygous loss-of-function mutations in MYLK are associated with aortic dissections

Candidate gene
Marker
Therapy target	may be a new target for intervention in glaucoma to alter reactive astrocyte migration in the optic nerve head

ANIMAL & CELL MODELS