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FLASH GENE

Symbol

LMOD1

contributors: mct - updated : 24-08-2017

HGNC name	leiomodin 1 (smooth muscle)
HGNC id	6647

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MMIH4 megacystis-microcolon-intestinal hypoperistalsis syndrome 4
Location	1q32.1      Physical location : 201.865.584 - 201.915.716
Synonym name	thyroid and eye muscle autoantigen D1 (64kDa)
	64 kDa autoantigen 1D
	thyroid-associated ophthalmopathy autoantigen
	smooth muscle leiomodin
Synonym symbol(s)	SM-LMOD, D1, 1D, 64kD, SMLMOD

DNA

TYPE	functioning gene
STRUCTURE	50.13 kb     3 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012134 3 - 3967 NP_036266 67 600 - -

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 Endocrine thyroid       highly Nervous nerve spinal nerve sciatic     Reproductive female system uterus         female system ovary     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone subchondral     Epithelial secretory glandular endocrine   Muscular smooth     highly Mus musculus Fetal Muscular smooth vessel     Homo sapiens Muscular smooth muscularis mucosa (tractus digestif)     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	putative membrane spanning region
	two types of tandemly repeated blocks
	a WH2 domain playing only an auxiliary role in nucleation, always synergizing with other domains or proteins for this activity

HOMOLOGY

interspecies

homolog to murine 64kd D1

Homologene

FAMILY

tropomodulin family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	having tropomyosin binding activity
	likely involved in hair cell differentiation
	its function may be linked to Smooth muscle cell (SMC) contractile activity or actin cytoskeletal homeostasis
	potential role in establishing normal smooth muscle cytoskeletal-contractile coupling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	Smooth muscle cell-restricted SRF/MYOCD target gene
	potent SRF coactivator, MYOCD, is shown to transactivate the LMOD1 promoter and induce the endogenous transcript and protein in cells that otherwise exhibit very low levels of MYOCD expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MMIH4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS