InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: LDLRAP1

Summary

InnateDB Gene

IDBG-94355.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LDLRAP1

Gene Name

low density lipoprotein receptor adaptor protein 1

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000157978

Encoded Proteins

IDBP-94357

low density lipoprotein receptor adaptor protein 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD 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. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:25543580-25568886

Strand

Forward strand

Band

p36.11

Transcripts

ENST00000374338	ENSP00000363458
ENST00000485476
ENST00000488127
ENST00000462394
ENST00000484476
ENST00000474283
ENST00000470950

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001540	beta-amyloid binding
GO:0001784	phosphotyrosine binding
GO:0005515	protein binding
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding
GO:0030159	receptor signaling complex scaffold activity
GO:0030276	clathrin binding
GO:0035591	signaling adaptor activity
GO:0035612	AP-2 adaptor complex binding
GO:0035615	clathrin adaptor activity
GO:0050750	low-density lipoprotein particle receptor binding

Biological Process

GO:0006810	transport
GO:0006898	receptor-mediated endocytosis
GO:0008203	cholesterol metabolic process
GO:0009967	positive regulation of signal transduction
GO:0031623	receptor internalization
GO:0042632	cholesterol homeostasis
GO:0042982	amyloid precursor protein metabolic process
GO:0043393	regulation of protein binding
GO:0048260	positive regulation of receptor-mediated endocytosis
GO:0090003	regulation of establishment of protein localization to plasma membrane
GO:0090118	receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport
GO:0090205	positive regulation of cholesterol metabolic process

Cellular Component

GO:0005737	cytoplasm
GO:0005769	early endosome
GO:0005829	cytosol
GO:0005883	neurofilament
GO:0009898	cytoplasmic side of plasma membrane
GO:0009925	basal plasma membrane
GO:0030121	AP-1 adaptor complex
GO:0030122	AP-2 adaptor complex
GO:0030424	axon
GO:0055037	recycling endosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000037295

View Gene Order

ENSBTAG00000001050

Not yet available

Pathways

NETPATH

NetPath_24

TSLP pathway

REACTOME

KEGG

hsa04144

Endocytosis pathway

INOH

PID NCI

Cross-References

SwissProt

Q5SW96

TrEMBL

UniProt Splice Variant

Entrez Gene

26119

UniGene

Hs.590911 Hs.617589

RefSeq

NM_015627

HUGO

HGNC:18640

OMIM

605747

CCDS

CCDS30639

HPRD

IMGT

EMBL

AL117654 AL606491 AY389348 BC029770 BX572623

GenPept

AAH29770 AAQ90407 CAB56030 CAI16483 CAM12863

RNA Seq Atlas

26119