Protein: Q5SW96

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
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 coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity). 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

Biological Processes
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
Cellular Components
Module ID (MoonGO) GO ID (CC) GO Name
153 GO:0005634 nucleus
218 GO:0005634 nucleus
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
GO:0061024 membrane organization TAS
GO:0090118 receptor-mediated endocytosis involved in cholesterol transport IMP
GO:0090205 positive regulation of cholesterol metabolic process IC
GO:1903076 regulation of protein localization to plasma membrane IMP
GO:1905602 positive regulation of receptor-mediated endocytosis involved in cholesterol transport IMP
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
GO:0055037 recycling endosome IDA
No pairs of PrOnto dissimilar CC GO terms found.
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.
18669648 A quantitative atlas of mitotic phosphorylation.
20124734 A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.
21269460 Initial characterization of the human central proteome.
22814378 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
23186163 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
OMIM ID Disease Name
603813 Hypercholesterolemia, autosomal recessive
Domain Name Domain ID Source
PTB/PI_dom IPR006020 InterPro
PH-like_dom_sf IPR011993 InterPro
PID PF00640 Pfam
PID PS01179 PROSITE
PTB SM00462 SMART
T17340 T17340 PIR