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FLASH GENE

Symbol

LRPAP1

contributors: mct - updated : 03-10-2013

HGNC name	low density lipoprotein receptor-related protein associated protein 1
HGNC id	6701

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MYP23 myopia 23
Location	4p16.3      Physical location : 3.514.289 - 3.534.224
Synonym name	alpha-2-macroglobulin receptor-associated protein 1
Synonym symbol(s)	A2MRAP, RAP, MRAP, A2RAP, HBP44

DNA

TYPE	functioning gene
STRUCTURE	28.90 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D4S181 - D4S384 - D4S136 - D4S182 - SH3BP2 - D4S95 - HD - D4S127 - D4S131 - D4S180 - D4S125 - LRPAP1 - cen
Authors	Jou (94)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002337 8 - 10536 NP_002328 - 357 - 2003 14674767

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 blood / hematopoietic spleen       highly Cardiovascular heart       highly Endocrine pancreas       highly   thyroid         Homo sapiens Nervous brain       highly Reproductive male system prostate       Respiratory lung       highly Urinary kidney       highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Endocrine thyroid C cell Homo sapiens Adult

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

mono polymer

heteromer , complex

HOMOLOGY

interspecies	ortholog to murine Lrpap1
	homolog to Drosophila CG8507
	homolog to C.elegans C15C8.4

intraspecies	homolog to low density lipoprotein receptor (LDLR) 1
	homolog to Heymann nephritis antigen

Homologene

FAMILY

LDLR family

CATEGORY

chaperone/stress , receptor membrane

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,vesicle

basic FUNCTION	preventing premature binding of ligands to receptors
	enabling correct folding and export from the ER of alpha-2-macroglobulin receptor
	affecting interactions between plasma membranes and basement membranes
	acting as a LDL receptor
	involved in vesicle-mediated transport

CELLULAR PROCESS	cell life, proliferation/growth
	protein, post translation, folding

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forming a complex with the alpha-2-macroglobulin receptor heavy and light chains

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+

protein	binding to heparin,alpha-2-macroglobulin receptor and glycoprotein 330
	thought to act as a chaperone that binds and protects the lipoprotein receptor-related proteins LRP1 and LRP2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MYP23

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function determines not only thyroid abnormalities, but also a severe defect of megalin expression and function in the kidney

Susceptibility

to gallbladder cancer (GBC)

Variant & Polymorphism other	the 'D' allele may modulate the susceptibility of GBC, and the risk is independent to genetic risk of gallstone

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS