LDLRAP1 - low density lipoprotein receptor adaptor protein 1 Gene

Also Known as ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26119

About LDLRAP1

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:25,543,606-25,590,400 (from NCBI)

This gene has 7 transcripts (splice variants), 285 orthologues, 11 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 14.0), lymph node (RPKM 12.3) and 25 other tissues.

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]

LDLRAP1 Products (1)

mRNA	Protein	Name
NM_015627.3	NP_056442.2	low density lipoprotein receptor adapter protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables AP-1 adaptor complex binding	IDA IDA: Inferred from direct assay	12451172	GOA
enables AP-2 adaptor complex binding	IDA IDA: Inferred from direct assay	12451172	GOA
enables amyloid-beta binding	IPI IPI: Inferred from physical interaction	12805363	GOA
enables clathrin adaptor activity	IDA IDA: Inferred from direct assay	15728179	GOA
enables clathrin binding	IDA IDA: Inferred from direct assay	12221107	GOA
enables low-density lipoprotein particle receptor binding	IPI IPI: Inferred from physical interaction	12221107	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	12451172	GOA
enables phosphotyrosine residue binding	IDA IDA: Inferred from direct assay	12451172	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12221107	GOA
enables signaling adaptor activity	IDA IDA: Inferred from direct assay	12221107	GOA
enables signaling receptor complex adaptor activity	IMP IMP: Inferred from mutant phenotype	15166224	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in amyloid precursor protein metabolic process	IMP IMP: Inferred from mutant phenotype	12805363	GOA
involved in cellular response to cytokine stimulus	IMP IMP: Inferred from mutant phenotype	28257760	GOA
involved in cholesterol homeostasis	IMP IMP: Inferred from mutant phenotype	15166224	GOA
involved in low-density lipoprotein particle clearance	IMP IMP: Inferred from mutant phenotype	12417523	GOA
involved in positive regulation of low-density lipoprotein particle clearance	IMP IMP: Inferred from mutant phenotype	28257760	GOA
involved in positive regulation of receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	15166224	GOA
involved in positive regulation of receptor-mediated endocytosis involved in cholesterol transport	IMP IMP: Inferred from mutant phenotype	12417523	GOA
involved in positive regulation of vascular associated smooth muscle cell proliferation	IMP IMP: Inferred from mutant phenotype	28257760	GOA
involved in receptor internalization	IMP IMP: Inferred from mutant phenotype	15166224	GOA
involved in receptor-mediated endocytosis	IDA IDA: Inferred from direct assay	14528014	GOA
involved in receptor-mediated endocytosis involved in cholesterol transport	IMP IMP: Inferred from mutant phenotype	12417523	GOA
involved in regulation of protein binding	IMP IMP: Inferred from mutant phenotype	15166224	GOA
involved in regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	12805363	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basal plasma membrane	IDA IDA: Inferred from direct assay	12451172	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	14528014	GOA
located in cytosol	IDA IDA: Inferred from direct assay	12451172	GOA
located in early endosome	IDA IDA: Inferred from direct assay	14528014	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	14528014	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LDLRAP1 Protein Structure

PID

0
100
200
308 a.a.

Protein Preferred Names	Protein Names
low density lipoprotein receptor adapter protein 1	LDL receptor adaptor protein

LDLRAP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LDLRAP1	Q5SW96	AP2B1	Homo sapiens	P63010-2	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	AP2B1	Homo sapiens	P63010-2	BFG-2H	27107012
Intra	LDLRAP1	Q5SW96	AP2B1	Homo sapiens	P63010-2	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	AP1B1	Homo sapiens	Q10567-3	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	AP1B1	Homo sapiens	Q10567-3	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	PSD4	Homo sapiens	Q8NDX1-2	Validated Y2H	25910212
Intra	LDLRAP1	Q5SW96	PSD4	Homo sapiens	Q8NDX1-2	Y2H Array	25910212
Intra	LDLRAP1	Q5SW96	PSD4	Homo sapiens	Q8NDX1-2	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	PSD4	Homo sapiens	Q8NDX1-2	Validated Y2H	32296183
Intra	LDLRAP1	Q5SW96	PSD4	Homo sapiens	Q8NDX1-2	Y2H Bait-Prey Pool	25910212
Intra	LDLRAP1	Q5SW96	PSD4	Homo sapiens	Q8NDX1-2	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	ESPNL	Homo sapiens	Q6ZVH7	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	ESPNL	Homo sapiens	Q6ZVH7	Validated Y2H	32296183
Intra	LDLRAP1	Q5SW96	ESPNL	Homo sapiens	Q6ZVH7	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	NOTO	Homo sapiens	A8MTQ0	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	NOTO	Homo sapiens	A8MTQ0	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	HOXC8	Homo sapiens	P31273	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	HOXC8	Homo sapiens	P31273	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	PAX5	Homo sapiens	Q02548	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	PAX5	Homo sapiens	Q02548	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	AP2B1	Homo sapiens	P63010	Pull Down	12221107
Intra	LDLRAP1	Q5SW96	FHL2	Homo sapiens	Q14192	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	FHL2	Homo sapiens	Q14192	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	HOXD8	Homo sapiens	P13378	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	HOXD8	Homo sapiens	P13378	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	MAPK8IP3	Homo sapiens	Q9UPT6	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	MAPK8IP3	Homo sapiens	Q9UPT6	Validated Y2H	32296183
Intra	LDLRAP1	Q5SW96	MAPK8IP3	Homo sapiens	Q9UPT6	BFG-2H	27107012
Intra	LDLRAP1	Q5SW96	MAPK8IP3	Homo sapiens	Q9UPT6	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	MAPK8IP3	Homo sapiens	Q9UPT6	Complementation	32296183
Intra	LDLRAP1	Q5SW96	MAGEA4	Homo sapiens	P43358	Y2H Prey Pooling	32296183
Intra	LDLRAP1	Q5SW96	MAGEA4	Homo sapiens	P43358	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	STN1	Homo sapiens	Q9H668	Validated Y2H	32296183
Intra	LDLRAP1	Q5SW96	STN1	Homo sapiens	Q9H668	Y2H Array	25416956
Intra	LDLRAP1	Q5SW96	STN1	Homo sapiens	Q9H668	Y2H Bait-Prey Pool	25910212
Intra	LDLRAP1	Q5SW96	STN1	Homo sapiens	Q9H668	Y2H Array	32296183
Intra	LDLRAP1	Q5SW96	STN1	Homo sapiens	Q9H668	Validated Y2H	25910212
Intra	LDLRAP1	Q5SW96	STN1	Homo sapiens	Q9H668	Y2H Prey Pooling	25416956
Intra	LDLRAP1	Q5SW96	STN1	Homo sapiens	Q9H668	Y2H Array	25910212
Intra	LDLRAP1	Q5SW96	STN1	Homo sapiens	Q9H668	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Autosomal Recessive Arh FHCL4 Autosomal Recessive Hypercholesterolemia Arh1 Arh2 Autosomal Recessive Hypercholesterolemia 1 Autosomal Recessive Hypercholesterolemia 2 Fhcb1 Fhcb2 Hypercholesterolemia, Autosomal Recessive, 1, Formerly Arh1, Formerly Fhcb1, Formerly Hypercholesterolemia, Autosomal Recessive, 2, Formerly Arh2, Formerly Fhcb2, Formerly Familial Autosomal Recessive Hypercholesterolemia Hypercholesterolemia, Familial, Autosomal Recessive Hypercholesterolemia, Familial, Type 4
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial
Homozygous Familial Hypercholesterolemia	Hofh
Xanthomatosis	Xanthomatosis, Susceptibility To Xanthelasmatosis
Corneal Degeneration	Degenerative Corneal Opacity
Familial Hyperlipidemia	Familial Hyperlipoproteinemia Hyperlipidaemia Hyperlipoproteinemias Hyperlipidemia Hyperlipemia Hyperlipidemias
Arcus Corneae	Arcus Senilis Corneal Arcus Arcus Of Cornea
Sea-Blue Histiocyte Disease	Sea-Blue Histiocytosis Sea-Blue Histiocyte Syndrome Histiocytosis, Sea-Blue Inherited Lipemic Splenomegaly SBHD
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
Hypercholesterolemia, Familial, 1	Hypercholesterolemia FHCL1 Fhc Fh Hyperlipoproteinemia, Type Ii Hyperlipoproteinemia, Type Iia Hyper-Low-Density-Lipoproteinemia Hypercholesterolemic Xanthomatosis, Familial Ldl Receptor Disorder Hypercholesterolemia, Susceptibility To Hypercholesterolemia, Familial, Modifier Of Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of Ldl Cholesterol Level Qtl2 Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial, Type 1 High Cholesterol Increased Cholesterol Low-Density-Lipoid-Type Hyperlipoproteinemia Pure Hypercholesterolaemia Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia Group A Hyperlipidaemia Pure Hypercholesterinaemia Cholesterolaemia Essential Cholesterolaemia Essential Hypercholesterolaemia Group A Hyperlipemia Increased Low Density Lipoprotein Low-Density-Lipoprotein-Type Low-Density-Lipoprotein-Type Hyperlipoproteinemia
Cholesterol Ester Storage Disease
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-181997	LDLRAP1-IN-1	Inhibitor	/	Unkown
HY-RS07580	LDLRAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	LDLRAP1	VGNC	VGNC:30830
Canis familiaris	LDLRAP1	VGNC	VGNC:42626
Rattus norvegicus	LDLRAP1	RGD	RGD:1563417
Felis catus	LDLRAP1	VGNC	VGNC:80251
Mus musculus	LDLRAP1	MGD	MGI:2140175
Others	LDLRAP1	NCBI