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FLASH GENE

Symbol

PRELP

contributors: mct/npt - updated : 24-12-2013

HGNC name	proline arginine-rich end leucine-rich repeat protein
HGNC id	9357

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	basic N terminal ARG/PRO-rich binding domain
	a heparin-binding N terminus has been shown to have antimicrobial activity
	a GAG-binding domain ((hbd)
	10 characteristic leucine-rich repeats flanked by cysteine loops in both the N and C termini
	a N-linked glycosylation site (NKSIT motifs) in the LRR region
	a putative secretory signal sequence and several glycosylation sites

HOMOLOGY

interspecies

homolog to murine Prelp

intraspecies

homolog to FMOD

Homologene

FAMILY	small leucine-rich proteoglycan (SLRP) family
	class II subfamily

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,lysosome
text	cuticle, basement membrane
	localize to the physis (Shapiro 2009)
	normally expressed in extracellular matrix of collagen-rich tissues

basic FUNCTION	functions as a molecule anchoring basement membranes to the underlying connective tissue
	maybe anchoring basement membrane to the underlying connective tissue
	playing a role in skeletal development
	may play a critical role in regulating the biomechanical properties of scleral extracellular matrix
	glycosaminoglycan (GAG)- and collagen-binding anchor protein, acting as a cell type-specific NF-kappaB inhibitor that impairs osteoclastogenesis
	most upregulated gene in the physeal region (Shapiro 2009)
	inhibits the formation of the membrane attack complex and thereby inhibits all three pathways of complement
	may act as a local complement inhibitor at basement membranes or at sites with exposed cartilage
	may down-regulate complement attack at basement membranes and on damaged cartilage and therefore limit pathological complement activation in inflammatory disease such as rheumatoid arthritis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

ossification

PATHWAY

metabolism

signaling

a component

constituent matrix protein of articular cartilage, 55 kDa

INTERACTION

DNA

RNA

small molecule

protein	binds the basement membrane heparan sulfate proteoglycan perlecan
	binds triple helical collagens type I and type II
	interact with the complement inhibitor C4B-binding protein, C4BPB, and C4BPA
	inhibits the assembly of the alternative C3-convertase

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   perturbed organization of collagen fibrils in the dermis and the thickness of the hypodermal fat layer was diminished

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS