Property Summary

NCBI Gene PubMed Count 47
Grant Count 104
R01 Count 72
Funding $9,929,627.45
PubMed Score 254.80
PubTator Score 127.07

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
osteosarcoma -1.144 0.004
Common variable immunodeficiency -1.046 0.012
lung cancer -1.400 0.000
ovarian cancer 1.100 0.001
pituitary cancer -2.200 0.000
pancreatic cancer -1.100 0.003

Synonym

Accession Q5SW96 A2BHI5 Q6TQS9 Q8N2Y0 Q9UFI9
Symbols ARH
ARH1
ARH2
FHCB1
FHCB2

Gene

PANTHER Protein Class (1)

PDB

2G30  

Gene RIF (30)

PMID Text
25331956 Numb specifically regulates NPC1L1-mediated cholesterol absorption both in human intestine and liver, distinct from ARH and Dab2, which selectively participate in LDLR-mediated LDL uptake.
25225128 Identification of ARH gene and characterization of its mutations in Autosomal Recessive Hypercholesterolemia patients [Review]
23564733 cells that depend upon ARH for LDL uptake can control which lipoproteins are internalized by their LDLRs through changes in nitric oxide.
23510778 This work identified a combined LDL receptor and LDLRAP1 mutation as the cause for severe familial hypercholesterolemia in a family of Turkish descent.
22509010 report the crystal structure at 1.37-A resolution of the phosphotyrosine-binding (PTB) domain of ARH in complex with an LDLR tail peptide containing the FxNPxY(0) internalization signal
21872251 LDL receptor/LDLRAP1 double heterozygous mutations may account for severer phenotype in terms of xanthoma and atherosclerotic cardiovascular disease in familial hypercholesterolemia patients.
21778424 ARH protein is involved in cell cycle progression, possibly by affecting nuclear membrane formation through interaction with lamin B1 or other mitotic proteins, and its absence affects cell proliferation and induces premature senescence.
21444685 Knockdown of ARH in polarized epithelial cells leads to specific apical missorting of truncated LDLR, which encodes only the FxNPxY motif (LDLR-CT27).
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQPKGEELSAAA      1 - 70
IKRIVATAKASGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCTADKMHDKVFAYIAQSQHNQS     71 - 140
LECHAFLCTKRKMAQAVTLTVAQAFKVAFEFWQVSKEEKEKRDKASQEGGDVLGARQDCTPSLKSLVATG    141 - 210
NLLDLEETAKAPLSTVSANTTNMDEVPRPQALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGLTAQD    211 - 280
MHYAQCLSPVDWDKPDSSGTEQDDLFSF                                              281 - 308
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Text Mined References (54)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
25416956 2014 A proteome-scale map of the human interactome network.
25331956 2014 The clathrin adaptor proteins ARH, Dab2, and numb play distinct roles in Niemann-Pick C1-Like 1 versus low density lipoprotein receptor-mediated cholesterol uptake.
25225128 2015 The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23564733 2013 S-nitrosylation of ARH is required for LDL uptake by the LDL receptor.
23510778 2013 A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22509010 2012 Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
More...