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Ldlrap1
Gene Detail
 Symbol
Name
ID
Ldlrap1
low density lipoprotein receptor adaptor protein 1
MGI:2140175
Synonyms Arh, Arh1
Feature Type protein coding gene
Genetic Map
Chromosome 4
67.09 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr4:134744735-134768024 bp, - strand
From VEGA annotation of GRCm38

  23290 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9219  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Ldlrap1

Human
homologs
Human Homolog LDLRAP1, low density lipoprotein receptor adaptor protein 1
NCBI Gene ID 26119
neXtProt AC  NX_Q5SW96
Human Synonyms  ARH, ARH1, ARH2, FHCB1, FHCB2
Human Chr (Location)  1p36-p35; chr1:25543580-25591211 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human LDLRAP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(4) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH).
 
Human Diseases Modeled Using Mouse Ldlrap1 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Ldlrap1 interacts with 232 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (39 annotations)
Process amyloid precursor protein metabolic process, cholesterol homeostasis, ...
Component AP-1 adaptor complex, AP-2 adaptor complex, ...
Function AP-2 adaptor complex binding, beta-amyloid binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (15)    Tissues (6)    Images (11)
Theiler Stages: 9, 19, 23
Assay TypeResults
Immunohistochemistry 4
RNA in situ 11
cDNA source data(57)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(57) cDNA(57)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000011121 (Evidence)
Ensembl Gene ModelENSMUSG00000037295 (Evidence)
Entrez Gene100017 (Evidence)
UniGene482148
DFCITC1577218
DoTSDT.101135654, DT.101375033, DT.531080, DT.91425112
NIA Mouse Gene IndexU025647
Consensus CDS ProjectCCDS51327.1
International Mouse Knockout Project StatusLdlrap1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011121 VEGA Gene Model | MGI Sequence Detail 23290 C57BL/6J ±  kb
transcript OTTMUST00000026035 VEGA | MGI Sequence Detail 3368 Not Applicable 
polypeptide OTTMUSP00000011915 VEGA | MGI Sequence Detail 308 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(249 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006020 Phosphotyrosine interaction domain
InterPro IPR011993 Pleckstrin homology-like domain
Protein Ontology PR:000009745 low density lipoprotein receptor adapter protein 1
References (Earliest) J:80188 He G, et al., ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2. J Biol Chem. 2002 Nov 15;277(46):44044-9
(Latest) J:205046 Moore R, et al., Differential requirement for Dab2 in the development of embryonic and extra-embryonic tissues. BMC Dev Biol. 2013;13:39
All references(40)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory