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Low-density lipoprotein receptor adapter protein 1

  (Redirected from LDLRAP1)

Low-density lipoprotein receptor adapter protein 1 is a protein that in humans is encoded by the LDLRAP1 gene.[5]

LDLRAP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLDLRAP1, ARH, ARH1, ARH2, FHCB1, FHCB2, low density lipoprotein receptor adaptor protein 1
External IDsMGI: 2140175 HomoloGene: 9219 GeneCards: LDLRAP1
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for LDLRAP1
Genomic location for LDLRAP1
Band1p36.11Start25,543,580 bp[1]
End25,568,886 bp[1]
RNA expression pattern
PBB GE LDLRAP1 57082 at fs.png

PBB GE LDLRAP1 221790 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015627

NM_145554

RefSeq (protein)

NP_056442

NP_663529

Location (UCSC)Chr 1: 25.54 – 25.57 MbChr 4: 134.74 – 134.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTB) domain. The PTB 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.[5]

InteractionsEdit

LDLRAP1 has been shown to interact with AP2B1[6][7] and LRP2.[8]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000157978 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037295 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: LDLRAP1 low density lipoprotein receptor adaptor protein 1".
  6. ^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. England. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514.
  7. ^ He, Guocheng; Gupta Sarita; Yi Ming; Michaely Peter; Hobbs Helen H; Cohen Jonathan C (Nov 2002). "ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2". J. Biol. Chem. United States. 277 (46): 44044–9. doi:10.1074/jbc.M208539200. ISSN 0021-9258. PMID 12221107.
  8. ^ Nagai, Masaaki; Meerloo Timo; Takeda Tetsuro; Farquhar Marilyn Gist (Dec 2003). "The adaptor protein ARH escorts megalin to and through endosomes". Mol. Biol. Cell. United States. 14 (12): 4984–96. doi:10.1091/mbc.E03-06-0385. ISSN 1059-1524. PMC 284800. PMID 14528014.

Further readingEdit