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 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 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; chr1:25870076-25895377 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human LDLRAP1

Alleles and phenotypes

All alleles(6) : Targeted(2) Gene trapped(4)
 

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)   

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: (3 records)
Data Summary: Results (15)    Tissues (6)    Images (11)
Theiler Stages: 9, 19, 23

Assay Type	Results
Immunohistochemistry	4
RNA in situ	11

cDNA source data(56)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(56) cDNA(56)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000011121 (Evidence)
Ensembl Gene Model	ENSMUSG00000037295 (Evidence)
Entrez Gene	100017 (Evidence)
UniGene	482148
DFCI	TC1577218
DoTS	DT.101135654, DT.101375033, DT.531080, DT.91425112
NIA Mouse Gene Index	U025647
Consensus CDS Project	CCDS51327.1
International Mouse Knockout Project Status	Ldlrap1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000011121	VEGA Gene Model | MGI Sequence Detail	23290	C57BL/6J
transcript	OTTMUST00000026035	VEGA | MGI Sequence Detail	3368	Not Applicable
polypeptide	OTTMUSP00000011915	VEGA | MGI Sequence Detail	308	Not Applicable

All sequences(36) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(125 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(38)