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FLASH GENE

Symbol

LRBA

contributors: mct - updated : 12-07-2012

HGNC name	LPS-responsive vesicle trafficking, beach and anchor containing
HGNC id	1742

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CVID8 common variable immunodeficiency 8
Location	4q31.3      Physical location : 151.185.597 - 151.936.879
Synonym name	cell division cycle 4-like
	lipopolysaccharide-responsive and beige-like anchor protein
	CDC4-like protein
	beige-like protein
Synonym symbol(s)	BGL, LBA, CDC4L, LAB300, FLJ16600, FLJ25686, MGC72098, DKFZp686P2258, DKFZp686A09128, DKFZp686K03100

DNA

TYPE	functioning gene
STRUCTURE	751.05 kb     58 Exon(s)

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_001199282 58 - 10180 NP_001186211 319.2 2863 - 2001 11254716 NM_006726 59 - 10122 NP_006717 319.2 2863 - 2001 11254716

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 Cardiovascular heart       highly Nervous brain         Reproductive male system prostate       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Lymphoid         Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell Lymphoid/Immune macrophage

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six WD repeats (WD-40 repeats)
	a beige/BEACH domain, beige and Chediak-Higashi syndrome (BEACH) domain that defines a large family of eukaryotic proteins having diverse cellular functions in vesicle trafficking, membrane dynamics, and receptor signaling
	a weakly conserved pleckstrin homology (PH) domain, having the same backbone fold as canonical PH domains, despite sharing no sequence homology with them

HOMOLOGY

interspecies	ortholog to murine Lrba
	ortholog to Drosophila CDC45L
	homolog to C.elegans F34D10.2, Sel-2
	homolog to yeast cell division cycle gene Cdc4 (homology very limited)

intraspecies

homolog to BCL8

Homologene

FAMILY

BEACH-WD40 domain-containing proteins family

CATEGORY

secretory , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic,vesicle
text	transGolgi
	endocytosis vesicles

basic FUNCTION	may mediate protein-protein interactions
	functioning in polarized vesicle trafficking by guiding intracellular vesicles to activated receptor complexes and thus
	facilitating polarized secretion and/or membrane deposition of immune effector molecules
	involved in endosomal traffic and may be involved in efficient delivery of cell surface proteins to the lysosome
	potentially acts as a positive regulator of cell survival by promoting proliferation and by preventing apoptosis
	unanticipated functions in B cells, which are essential for normal development and humoral immune responses

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

induced by

lipopolysaccharide (LPS)

ASSOCIATED DISORDERS

corresponding disease(s)

CVID8

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       in Chediack-Higashi syndrome (CHS1)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS