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FLASH GENE

Symbol

LRRC10

contributors: mct - updated : 04-01-2014

HGNC name	leucine rich repeat containing 10
HGNC id	20264

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	12q15      Physical location : 70.002.346 - 70.004.942
Genatlas name	Serdin1
Synonym name	heart-restricted leucine-rich repeat protein
Synonym symbol(s)	HRLRRP, LRRC10A

DNA

TYPE	functioning gene
STRUCTURE	2.59 kb     1 Exon(s)

regulatory sequence	Promoter
	Binding site   HRE
text structure	promoter region contains two highly conserved cardiac regulatory elements, which are functional in cardiomyocytes but not in fibroblasts
	promoter possesses complicated cis-and trans-acting elements, and GATA4 and MEF2C could both increase transcriptional activity of LRRC10 promoter individually but that they do not act synergistically, suggesting that there exists a more complex regulation pattern

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_201550 1 - 2649 NP_963844 - 277 - 2011 21345312

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 Cardiovascular heart         Homo sapiens Fetal   heart         Homo sapiens Adult

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte Homo sapiens Adult Muscular myocyte Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

7 leucine-rich repeat motifs at the center of the protein

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytoskeleton,microfilament
	intracellular,nucleus

basic FUNCTION	may play important roles in cardiac development and/or cardiac function
	role in the embryonic as well as adult hearts
	essential for proper mammalian cardiac function
	cardiac-specific factor that is crucial for proper cardiac development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

LRRC10 is a transcriptional target of NKX2-5 and GATA4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	deletion of Lrrc10 in mice results in dilated cardiomyopathy
	Lrrc10 -/- mice exhibit prenatal systolic dysfunction and dilated cardiomyopathy in postnatal life