Protein: Q5SW96 | MoonDB v2.0

UniprotKB AC	UniprotKB ID	Gene name	Full name	Species	Curated set
Q5SW96 (Uniprot)	ARH_HUMAN	LDLRAP1	Low density lipoprotein receptor adapter protein 1	human	Yes

Protein Function

Uniprot: Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in c more..

Dissimilar Functions Manual Curation

Function 1: Membrane trafficking, endocytosis.

Function 2: Mitosis, centrosome assembly, cytokinesis. Condition: localisation at the spindle poles, kinetochores, midbody.

Publications (PMID): 18417616

MoonDB Network Modules

Biological Processes

Showing 1 to 3 of 3 entries

Search:

Module ID (MoonGO)	GO ID (BP)	GO Name
153	GO:0090304	nucleic acid metabolic process
153	GO:0060255	regulation of macromolecule metabolic process
218	GO:0060255	regulation of macromolecule metabolic process

Previous1Next

Cellular Components

Showing 1 to 2 of 2 entries

Search:

Module ID (MoonGO)	GO ID (CC)	GO Name
153	GO:0005634	nucleus
218	GO:0005634	nucleus

Previous1Next

Protein GO Annotations

Biological Processes

Showing 1 to 10 of 15 entries

Search:

GO ID (BP)	GO Name	Evidence Code (GO EC)
GO:0006810	transport	NAS
GO:0006898	receptor-mediated endocytosis	IDA
GO:0008203	cholesterol metabolic process	NAS
GO:0009967	positive regulation of signal transduction	IEA
GO:0031623	receptor internalization	IMP
GO:0034383	low-density lipoprotein particle clearance	IMP
GO:0042632	cholesterol homeostasis	IMP
GO:0042982	amyloid precursor protein metabolic process	IMP
GO:0043393	regulation of protein binding	IMP
GO:0048260	positive regulation of receptor-mediated endocytosis	IMP

Previous1 2Next

Cellular Components

Showing 1 to 10 of 11 entries

Search:

GO ID (CC)	GO Name	Evidence Code (GO EC)
GO:0005769	early endosome	IDA
GO:0005829	cytosol	IDA
GO:0005883	neurofilament	ISS
GO:0005886	plasma membrane	TAS
GO:0009898	cytoplasmic side of plasma membrane	IDA
GO:0009925	basal plasma membrane	IDA
GO:0030121	AP-1 adaptor complex	IDA
GO:0030122	AP-2 adaptor complex	IDA
GO:0030424	axon	ISS
GO:0030665	clathrin-coated vesicle membrane	TAS

Previous1 2Next

Dissimilar Cellular Components (PrOnto)

No pairs of PrOnto dissimilar CC GO terms found.

All Protein Interactions

Showing 1 to 10 of 11 entries

Search:

Interactor	Also a MoonDB EMF protein
AP1B1_HUMAN	No
AP2B1_HUMAN	No
FHL2_HUMAN	No
HXC8_HUMAN	No
JIP3_HUMAN	No
LEG1H_HUMAN	No
LRP2_HUMAN	No
MAGA4_HUMAN	No
PAX5_HUMAN	No
PSD4_HUMAN	No

Previous1 2Next

Publications Associated

Showing 1 to 10 of 15 entries

Search:

PMID	Article Title
11326085	Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
12221107	ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.
12417523	Molecular mechanisms of autosomal recessive hypercholesterolemia.
12451172	The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.
15489334	The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15728179	Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein.
16516836	Molecular switches involving the AP-2 beta2 appendage regulate endocytic cargo selection and clathrin coat assembly.
16710414	The DNA sequence and biological annotation of human chromosome 1.
16903783	Role of the AP2 beta-appendage hub in recruiting partners for clathrin-coated vesicle assembly.
17974005	The full-ORF clone resource of the German cDNA consortium.

Previous1 2Next

OMIM Diseases Associated

Showing 1 to 1 of 1 entries

Search:

OMIM ID	Disease Name
603813	Hypercholesterolemia, autosomal recessive

Previous1Next

Protein Domains Associated

Showing 1 to 6 of 6 entries

Search:

Domain Name	Domain ID	Source
PH-like_dom_sf	IPR011993	InterPro
PID	PF00640	Pfam
PID	PS01179	PROSITE
PTB	SM00462	SMART
PTB/PI_dom	IPR006020	InterPro
T17340	T17340	PIR

Previous1Next