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FLASH GENE

Symbol

MYL1

contributors: mct - updated : 07-09-2016

HGNC name	myosin, light polypeptide 1, alkali; skeletal, fast
HGNC id	7582

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q34      Physical location : 211.154.868 - 211.179.895
Synonym name	fast skeletal myosin alkali light chain 1
Synonym symbol(s)	MLC1-F, MLC3-F, MYLFS, MLC1F, MLC3F, mLC

DNA

TYPE	functioning gene
STRUCTURE	25.03 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   enhancer
text structure	two enhancer elements have been identified at the mammalian Mlc1f/3f locus, a 3 prime element active at all developmental stages and an intronic enhancer activated during fetal development

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	two alkali myosin light chains, Mlc1f and Mlc3f, from two promoters that are differentially regulated during development (PMID: 18062958)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_079420 - splicing 1045 NP_524144 21 194 - 2008 18957633 variant 1f, fast skeletal muscle isoform myosin light chain 1 Mlc1f promoter is active in embryonic, fetal and adult fast skeletal muscle inhibited the transition of the cell cycle from the G1 to the S phase may negatively regulate proliferation of myoblasts through inhibition of the transition from the G1 to the S phase of the cell cycle NM_079422 7 splicing 862 NP_524146 16.6 150 - 2008 18957633 variant 3f Mlc3f promoter is upregulated during fetal development and remains on in adult fast skeletal muscle

EXPRESSION

Type

widely

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 pharynx       highly Reproductive male system prostate     highly Respiratory lung         Visual eye       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four transcriptional domains with left and right compoment
	two heavy chains and four light chains
	three EF-hand domains

mono polymer

hexamer

HOMOLOGY

interspecies	homolog to murine Mylf
	homolog to Drosophila Mlc-c
	homolog to C.elegans T12D8.6

Homologene

FAMILY

CATEGORY

motor/contractile , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	regulatory light chain of myosin
	play a vital role in embryonic, fetal, and adult skeletal muscle development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

hexameric ATPase cellular motor protein composed of two heavy chains, two nonphosphorylable alkali light chains and two phosphorylable regulatory light chains

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein

PARD3 plays an important role in the modulation of intestinal barrier function by regulating delivery of occludin as well as suppression of MYL1 phosphorylation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism other	polymorphism of intron MYL1 was associated with endurance performance, specifically in endurance trainability

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS