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FLASH GENE

Symbol

LAS1L

contributors: mct - updated : 10-10-2017

HGNC name	LAS1-like (S. cerevisiae)
HGNC id	25726

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	WTS Wilson-Turner syndrome
Location	Xq12      Physical location : 64.732.462 - 64.754.686
Synonym name	protein LAS1 homolog
Synonym symbol(s)	RP3-475B7.2, FLJ12525, FLJ30133, FLJ45274, dJ475B7.2, WTS

DNA

TYPE	functioning gene
STRUCTURE	22.23 kb     14 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_001170649 13 - 2448 NP_001164120 - 717 - 2010 20647540 NM_031206 14 - 2499 NP_112483 - 734 - 2010 20647540 NM_001170650 12 - 2322 NP_001164121 - 675 - 2010 20647540

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 Lymphoid/Immune spleen       highly Respiratory lung       highly Skin/Tegument skin       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a glutamic acid-rich region on its C terminus

HOMOLOGY

Homologene

FAMILY

LAS1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleolus
text	found to localize predominantly in the nucleolus
	localized mainly to the granular component, the region implicated in the later steps of rRNA processing and subunit assembly and export

basic FUNCTION	involved in cell morphogenesis and cell surface growth
	nucleolar protein required for ribosome biogenesis, essential for cell proliferation and biogenesis of the 60S ribosomal subunit
	affects cell proliferation through its fundamental role in ribosome biogenesis
	required for the formation of the 60S ribosomal subunit, which contains the processed 28S rRNA
	nucleolar protein required for maturation of the 60S preribosomal subunit

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	PELP1 and the PELP1-associated factor LAS1L are SENP3-sensitive targets of SUMO
	interacts with PELP1 and WDR18, the mammalian homologues of the budding yeast Rix1 complex, along with NOL9 and SENP3, to form a novel nucleolar complex that cofractionates with the 60S preribosomal subunit

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

WTS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   leads to inhibition of rRNA processing and failure to synthesize the mature 28S rRNA constitutional     --low   affects cell proliferation and specifically the G1- to S-phase progression of the cell cycle constitutional germinal mutation       in spinal muscular atrophy with respiratory distress (SMARD)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS