Entity Details

Primary name ARH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5SW96
EntryNameARH_HUMAN
FullNameLow density lipoprotein receptor adapter protein 1
TaxID9606
Evidenceevidence at protein level
Length308
SequenceStatuscomplete
DateCreated2005-08-30
DateModified2021-06-02

Ontological Relatives

GenesLDLRAP1

GO terms

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GOName
GO:0001540 amyloid-beta binding
GO:0001784 phosphotyrosine residue binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005769 early endosome
GO:0005829 cytosol
GO:0005883 neurofilament
GO:0005886 plasma membrane
GO:0006898 receptor-mediated endocytosis
GO:0008203 cholesterol metabolic process
GO:0009898 cytoplasmic side of plasma membrane
GO:0009925 basal plasma membrane
GO:0030159 signaling receptor complex adaptor activity
GO:0030276 clathrin binding
GO:0030301 cholesterol transport
GO:0030424 axon
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0031623 receptor internalization
GO:0034383 low-density lipoprotein particle clearance
GO:0035591 signaling adaptor activity
GO:0035612 AP-2 adaptor complex binding
GO:0035615 clathrin adaptor activity
GO:0035650 AP-1 adaptor complex binding
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:0050750 low-density lipoprotein particle receptor binding
GO:0055037 recycling endosome
GO:0061024 membrane organization
GO:0071345 cellular response to cytokine stimulus
GO:0090118 receptor-mediated endocytosis involved in cholesterol transport
GO:0090205 positive regulation of cholesterol metabolic process
GO:1903076 regulation of protein localization to plasma membrane
GO:1904707 positive regulation of vascular associated smooth muscle cell proliferation
GO:1905581 positive regulation of low-density lipoprotein particle clearance
GO:1905602 positive regulation of receptor-mediated endocytosis involved in cholesterol transport

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR006020 PTB/PI domainDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
603813 OMIMHypercholesterolemia, familial, 4 (FHCL4)A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL4 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.