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Low-density lipoprotein receptor adapter protein 1

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Protein-coding gene in the species Homo sapiens
LDLRAP1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2G30

Identifiers
AliasesLDLRAP1, ARH, ARH1, ARH2, FHCB1, FHCB2, low density lipoprotein receptor adaptor protein 1, FHCL4
External IDsOMIM: 605747; MGI: 2140175; HomoloGene: 9219; GeneCards: LDLRAP1; OMA:LDLRAP1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)
Chromosome 1 (human)Genomic location for LDLRAP1Genomic location for LDLRAP1
Band1p36.11Start25,543,606 bp
End25,568,886 bp
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)
Chromosome 4 (mouse)Genomic location for LDLRAP1Genomic location for LDLRAP1
Band4|4 D3Start134,468,865 bp
End134,495,335 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • cerebellar hemisphere

  • right hemisphere of cerebellum

  • C1 segment

  • granulocyte

  • spleen

  • endothelial cell

  • lymph node

  • body of pancreas

  • hair follicle

  • islet of Langerhans
Top expressed in
  • otic vesicle

  • saccule

  • otic placode

  • granulocyte

  • molar

  • lip

  • lumbar subsegment of spinal cord

  • tibiofemoral joint

  • conjunctival fornix

  • calvaria
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

26119

100017

Ensembl

ENSG00000157978

ENSMUSG00000037295

UniProt

Q5SW96

Q8C142

RefSeq (mRNA)

NM_015627

NM_145554

RefSeq (protein)

NP_056442

NP_663529

Location (UCSC)Chr 1: 25.54 – 25.57 MbChr 4: 134.47 – 134.5 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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

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.

Interactions

LDLRAP1 has been shown to interact with AP2B1 and LRP2.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000157978Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000037295Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "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. 437 (7062). England: 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  7. He G, 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. 277 (46). United States: 44044–9. doi:10.1074/jbc.M208539200. ISSN 0021-9258. PMID 12221107.
  8. Nagai M, Meerloo Timo, Takeda Tetsuro, Farquhar Marilyn Gist (Dec 2003). "The adaptor protein ARH escorts megalin to and through endosomes". Mol. Biol. Cell. 14 (12). United States: 4984–96. doi:10.1091/mbc.E03-06-0385. ISSN 1059-1524. PMC 284800. PMID 14528014.

Further reading

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