About   Help   FAQ
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

HCOP human homology predictions: LDLRAP1
Gene Tree: Ldlrap1

Human
homologs
LDLRAP1, low density lipoprotein receptor adaptor protein 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 26119
neXtProt AC: NX_Q5SW96

Human Synonyms: ARH, ARH1, ARH2, FHCB1, FHCB2

Human Chr (Location): 1p36.11; chr1:25543580-25591287 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human LDLRAP1

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(4) Targeted(3)
Genomic Mutations involving Ldlrap1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Ldlrap1 (1)    Mutations 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)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 4
RNA in situ 11
cDNA source data(11)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ldlrap1 ; ZFIN ldlrap1a    NEW 
Molecular
reagents
All nucleic(11) cDNA(11)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000011121 (Evidence)
Ensembl Gene Model ENSMUSG00000037295 (Evidence)
Entrez Gene 100017 (Evidence)
DFCI TC1577218, TC1602909
DoTS DT.101135654, DT.101375033, DT.524519, DT.531080, DT.91425112
NIA Mouse Gene Index U025647, U199692
Consensus CDS Project CCDS51327.1
International Mouse Phenotyping Consortium Status Ldlrap1
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(43) 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(38)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/18/2015
MGI 6.0
The Jackson Laboratory