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FLASH GENE

Symbol

MYH1

contributors: mct - updated : 09-12-2020

HGNC name	myosin, heavy chain 1, skeletal muscle, adult
HGNC id	7567

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	17p13.1      Physical location : 10.395.627 - 10.421.859
Synonym name	myosin heavy chain IIx/d
	myosin, heavy polypeptide 1, skeletal muscle, adult
Synonym symbol(s)	MYHC2A, MYHSA1, MYHa, MyHC-2X/D, MGC133384, HEL71, MyHC-2x

DNA

TYPE	functioning gene
STRUCTURE	26.23 kb     40 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - MYH3 - MYH1 - MYH2 ,MYH4 - MYH8 - MYH13 - qter
Authors	Weiss (99)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005963 40 - 6038 NP_005954 - 1939 - 2015 25567808

EXPRESSION

Type	restricted

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 Endocrine thyroid         Respiratory respiratory tract larynx     highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	globular head associating to the light chain
	actin and ATP binding sites
	followed by a neck containing IQ calmodulin or calmodulin-like light chain binding domain (the converter) connected to the base of a long alpha helical tail,(the liver)

HOMOLOGY

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,granule

basic FUNCTION

motor contractile protein moving towards the "plus" end of actin track

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

MSTN positively regulates slow isoform MYH7 but negatively regulates fast isoforms MYH1, MYH4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to epilepsy disorders

Variant & Polymorphism other	pathogenic and likely pathogenic variants in MYH1 in epilepsy disorders

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Myh1 was upregulated 224 times over WT, in lungs from VIP-/- mice