PRELP

The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

Description

Proline and arginine rich end leucine rich repeat protein

Tissue specificity

Low tissue specificity

Subcell location

Endoplasmic reticulum

Predicted location

Secreted to extracellular matrix

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (203475806 - 203491352)

Ensembl ID

ENSG00000188783  (ver. 103.38)

Orthologs

Mouse Prelp: ENSMUSG00000041577

UniProt

P51888

neXtProt

NX_P51888

Human splice variants
Mouse splice variants

Protein structure