LDLRAP1

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Low density lipoprotein receptor adaptor protein 1
Identifiers
Symbols LDLRAP1 ; ARH1; ARH; ARH2; DKFZp586D0624; FHCB1; FHCB2; MGC34705
External IDs OMIM: 605747 MGI2140175 HomoloGene9219
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

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 26119
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 100017

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000157978
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000037295

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q5SW96
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q3TEF2

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_015627 (mRNA)
NP_056442 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_145554 (mRNA)
NP_663529 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 1: 25.74 - 25.77 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 4: 134.02 -  134.04 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
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.[1]

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.[1]

References

  1. 1.0 1.1 "Entrez Gene: LDLRAP1 low density lipoprotein receptor adaptor protein 1".

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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Wilund KR, Yi M, Campagna F; et al. (2003). "Molecular mechanisms of autosomal recessive hypercholesterolemia". Hum. Mol. Genet. 11 (24): 3019–30. PMID 12417523.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

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