LDLRAP1

Low density lipoprotein receptor adaptor protein 1
Identifiers
Symbols	LDLRAP1 ; ARH1; ARH; ARH2; DKFZp586D0624; FHCB1; FHCB2; MGC34705
External IDs	Template:OMIM5 Template:MGI HomoloGene: 9219
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE LDLRAP1 221790 s at tn.png
File:PBB GE LDLRAP1 57082 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Low density lipoprotein receptor adaptor protein 1, also known as LDLRAP1, is a human gene.

The 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.

Further reading

• Barbagallo CM, Emmanuele G, Cefalù AB; et al. (2003). "Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene". Atherosclerosis. 166 (2): 395–400. PMID 12535754.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Garcia CK, Wilund K, Arca M; et al. (2001). "Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein". Science. 292 (5520): 1394–8. doi:10.1126/science.1060458. PMID 11326085.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Arca M, Zuliani G, Wilund K; et al. (2002). "Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis". Lancet. 359 (9309): 841–7. PMID 11897284.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Al-Kateb H, Bähring S, Hoffmann K; et al. (2002). "Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia". Circ. Res. 90 (9): 951–8. PMID 12016260.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• He G, Gupta S, Yi M; et al. (2003). "ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2". J. Biol. Chem. 277 (46): 44044–9. doi:10.1074/jbc.M208539200. PMID 12221107.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wilund KR, Yi M, Campagna F; et al. (2003). "Molecular mechanisms of autosomal recessive hypercholesterolemia". Hum. Mol. Genet. 11 (24): 3019–30. PMID 12417523.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mishra SK, Watkins SC, Traub LM (2003). "The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery". Proc. Natl. Acad. Sci. U.S.A. 99 (25): 16099–104. doi:10.1073/pnas.252630799. PMID 12451172.CS1 maint: Multiple names: authors list (link)
• Eden ER, Patel DD, Sun XM; et al. (2003). "Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1". J. Clin. Invest. 110 (11): 1695–702. PMID 12464675.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jones C, Hammer RE, Li WP; et al. (2003). "Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia". J. Biol. Chem. 278 (31): 29024–30. doi:10.1074/jbc.M304855200. PMID 12746448.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Harada-Shiba M, Takagi A, Miyamoto Y; et al. (2003). "Clinical features and genetic analysis of autosomal recessive hypercholesterolemia". J. Clin. Endocrinol. Metab. 88 (6): 2541–7. PMID 12788851.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nagai M, Meerloo T, Takeda T, Farquhar MG (2004). "The adaptor protein ARH escorts megalin to and through endosomes". Mol. Biol. Cell. 14 (12): 4984–96. doi:10.1091/mbc.E03-06-0385. PMID 14528014.CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Michaely P, Li WP, Anderson RG; et al. (2004). "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits". J. Biol. Chem. 279 (32): 34023–31. doi:10.1074/jbc.M405242200. PMID 15166224.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vázquez A; et al. (2005). "A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia". Hum. Genet. 116 (1–2): 114–20. doi:10.1007/s00439-004-1192-9. PMID 15599766.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mishra SK, Keyel PA, Edeling MA; et al. (2005). "Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein". J. Biol. Chem. 280 (19): 19270–80. doi:10.1074/jbc.M501029200. PMID 15728179.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sirinian MI, Belleudi F, Campagna F; et al. (2006). "Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes". J. Biol. Chem. 280 (46): 38416–23. doi:10.1074/jbc.M504343200. PMID 16129683.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)