Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

LRSAM1

contributors: mct/npt - updated : 24-12-2015

HGNC name	leucine rich repeat and sterile alpha motif containing 1
HGNC id	25135

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMT2P Charcot-Marie-Tooth disease, axonal, type 2P
Location	9q34.11      Physical location : 130.213.764 - 130.265.780
Synonym name	Tsg101-associated ligase
	ring zinc finger-leucine-rich repeat containing protein
Synonym symbol(s)	FLJ31641, RIFLE, TAL, CMT2P
EC.number	6.3.2.-

DNA

TYPE	functioning gene
STRUCTURE	52.02 kb     26 Exon(s)

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_001005373 26 - 3152 NP_001005373 - 723 - McDonald (2008) NM_138361 25 - 3186 NP_612370 - 723 - McDonald (2008) NM_001005374 25 - 2884 NP_001005374 - 723 - McDonald (2008) NM_001190723 25 - 3065 NP_001177652 - 696 - -

EXPRESSION

Type

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 Digestive esophagus         Homo sapiens Adult Nervous ganglia sensory ganglia       Homo sapiens Fetal   spinal cord anterior horn       Homo sapiens Adult   spinal cord anterior horn       Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium (mucosa)     Homo sapiens Muscular smooth     highly Homo sapiens Fetal Muscular striatum     highly Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a RING finger domain necessary for multiple mono-ubiquitylation of TSG101 (Amit 2004)

conjugated

PhosphoP

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	represents a novel signaling protein that mediates components of the Wnt/wingless signaling pathway and cell adhesion in PC12 cells (Li 2003)
	regulates a TSG101-associated complex responsible for the sorting of cargo into cytoplasm-containing vesicles that bud at the multivesicular body and at the plasma membrane (Amit 2004)
	polyubiquitinates lysine residues in the C-terminus of uncomplexed TSG101, resulting in proteasomal degradation (McDonald 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

LRSAM1 is a regulator of TSG101 expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2P

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS