Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1)

ARH1; ARH; ARH2; FHCB1; FHCB2; Autosomal recessive hypercholesterolemia protein

SPN	T682
HGNC	18640
MGI	2140175
PubMed	21931358
RGD	1563417
UniProt	Q5SW96
Wiki	LDLRAP1

LDLRAP1 is a protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia.Expressed at high levels in the kidney, liver, and placenta, with lower levels detectable in brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes.Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits.

Reference

"Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein."
Science 292:1394-1398(2001) [PubMed] [Europe PMC] [Abstract]

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Hum. Mol. Genet. 11:3019-3030(2002) [PubMed] [Europe PMC] [Abstract]

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BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

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Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2."
J. Biol. Chem. 277:44044-44049(2002) [PubMed] [Europe PMC] [Abstract]

"The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery."
Proc. Natl. Acad. Sci. U.S.A. 99:16099-16104(2002) [PubMed] [Europe PMC] [Abstract]

"Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein."
J. Biol. Chem. 280:19270-19280(2005) [PubMed] [Europe PMC] [Abstract]

"Role of the AP2 beta-appendage hub in recruiting partners for clathrin-coated vesicle assembly."
PLoS Biol. 4:E262-E262(2006) [PubMed] [Europe PMC] [Abstract]

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Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

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BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"Molecular switches involving the AP-2 beta2 appendage regulate endocytic cargo selection and clathrin coat assembly."
Dev. Cell 10:329-342(2006) [PubMed] [Europe PMC] [Abstract]