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LDLRAP1 (low density lipoprotein receptor adaptor protein 1)

Identity

Alias_symbol (synonym)ARH
ARH2
FHCB1
FHCB2
MGC34705
DKFZp586D0624
Other aliasARH1
HGNC (Hugo) LDLRAP1
LocusID (NCBI) 26119
Atlas_Id 56131
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 25543585 and ends at 25568886 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
LDLRAP1 (1p36.11) / ADORA2A-AS1 (22q11.23)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LDLRAP1   18640
LRG (Locus Reference Genomic)LRG_276
Cards
Entrez_Gene (NCBI)LDLRAP1  26119  low density lipoprotein receptor adaptor protein 1
AliasesARH; ARH1; ARH2; FHCB1; 
FHCB2
GeneCards (Weizmann)LDLRAP1
Ensembl hg19 (Hinxton)ENSG00000157978 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157978 [Gene_View]  ENSG00000157978 [Sequence]  chr1:25543585-25568886 [Contig_View]  LDLRAP1 [Vega]
ICGC DataPortalENSG00000157978
TCGA cBioPortalLDLRAP1
AceView (NCBI)LDLRAP1
Genatlas (Paris)LDLRAP1
WikiGenes26119
SOURCE (Princeton)LDLRAP1
Genetics Home Reference (NIH)LDLRAP1
Genomic and cartography
GoldenPath hg38 (UCSC)LDLRAP1  -     chr1:25543585-25568886 +  1p36.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LDLRAP1  -     1p36.11   [Description]    (hg19-Feb_2009)
EnsemblLDLRAP1 - 1p36.11 [CytoView hg19]  LDLRAP1 - 1p36.11 [CytoView hg38]
Mapping of homologs : NCBILDLRAP1 [Mapview hg19]  LDLRAP1 [Mapview hg38]
OMIM603813   605747   
Gene and transcription
Genbank (Entrez)AK024397 AK091219 AK124554 AK309850 AK309853
RefSeq transcript (Entrez)NM_015627
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LDLRAP1
Cluster EST : UnigeneHs.590911 [ NCBI ]
CGAP (NCI)Hs.590911
Alternative Splicing GalleryENSG00000157978
Gene ExpressionLDLRAP1 [ NCBI-GEO ]   LDLRAP1 [ EBI - ARRAY_EXPRESS ]   LDLRAP1 [ SEEK ]   LDLRAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)LDLRAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26119
GTEX Portal (Tissue expression)LDLRAP1
Human Protein AtlasENSG00000157978-LDLRAP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5SW96   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5SW96  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5SW96
Splice isoforms : SwissVarQ5SW96
PhosPhoSitePlusQ5SW96
Domaine pattern : Prosite (Expaxy)PID (PS01179)   
Domains : Interpro (EBI)PH-like_dom_sf    PTB/PI_dom   
Domain families : Pfam (Sanger)PID (PF00640)   
Domain families : Pfam (NCBI)pfam00640   
Domain families : Smart (EMBL)PTB (SM00462)  
Conserved Domain (NCBI)LDLRAP1
DMDM Disease mutations26119
Blocks (Seattle)LDLRAP1
PDB (SRS)2G30   
PDB (PDBSum)2G30   
PDB (IMB)2G30   
PDB (RSDB)2G30   
Structural Biology KnowledgeBase2G30   
SCOP (Structural Classification of Proteins)2G30   
CATH (Classification of proteins structures)2G30   
SuperfamilyQ5SW96
Human Protein Atlas [tissue]ENSG00000157978-LDLRAP1 [tissue]
Peptide AtlasQ5SW96
HPRD05765
IPIIPI00004758   IPI00386330   
Protein Interaction databases
DIP (DOE-UCLA)Q5SW96
IntAct (EBI)Q5SW96
FunCoupENSG00000157978
BioGRIDLDLRAP1
STRING (EMBL)LDLRAP1
ZODIACLDLRAP1
Ontologies - Pathways
QuickGOQ5SW96
Ontology : AmiGOamyloid-beta binding  phosphotyrosine residue binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  early endosome  cytosol  neurofilament  plasma membrane  receptor-mediated endocytosis  cholesterol metabolic process  cytoplasmic side of plasma membrane  basal plasma membrane  positive regulation of signal transduction  receptor signaling complex scaffold activity  clathrin binding  cholesterol transport  axon  clathrin-coated vesicle membrane  receptor internalization  low-density lipoprotein particle clearance  signaling adaptor activity  AP-2 adaptor complex binding  clathrin adaptor activity  AP-1 adaptor complex binding  cholesterol homeostasis  amyloid precursor protein metabolic process  regulation of protein binding  positive regulation of receptor-mediated endocytosis  low-density lipoprotein particle receptor binding  recycling endosome  membrane organization  cellular response to cytokine stimulus  receptor-mediated endocytosis involved in cholesterol transport  positive regulation of cholesterol metabolic process  regulation of protein localization to plasma membrane  positive regulation of vascular smooth muscle cell proliferation  positive regulation of low-density lipoprotein particle clearance  positive regulation of receptor-mediated endocytosis involved in cholesterol transport  
Ontology : EGO-EBIamyloid-beta binding  phosphotyrosine residue binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  early endosome  cytosol  neurofilament  plasma membrane  receptor-mediated endocytosis  cholesterol metabolic process  cytoplasmic side of plasma membrane  basal plasma membrane  positive regulation of signal transduction  receptor signaling complex scaffold activity  clathrin binding  cholesterol transport  axon  clathrin-coated vesicle membrane  receptor internalization  low-density lipoprotein particle clearance  signaling adaptor activity  AP-2 adaptor complex binding  clathrin adaptor activity  AP-1 adaptor complex binding  cholesterol homeostasis  amyloid precursor protein metabolic process  regulation of protein binding  positive regulation of receptor-mediated endocytosis  low-density lipoprotein particle receptor binding  recycling endosome  membrane organization  cellular response to cytokine stimulus  receptor-mediated endocytosis involved in cholesterol transport  positive regulation of cholesterol metabolic process  regulation of protein localization to plasma membrane  positive regulation of vascular smooth muscle cell proliferation  positive regulation of low-density lipoprotein particle clearance  positive regulation of receptor-mediated endocytosis involved in cholesterol transport  
Pathways : KEGGEndocytosis   
NDEx NetworkLDLRAP1
Atlas of Cancer Signalling NetworkLDLRAP1
Wikipedia pathwaysLDLRAP1
Orthology - Evolution
OrthoDB26119
GeneTree (enSembl)ENSG00000157978
Phylogenetic Trees/Animal Genes : TreeFamLDLRAP1
HOVERGENQ5SW96
HOGENOMQ5SW96
Homologs : HomoloGeneLDLRAP1
Homology/Alignments : Family Browser (UCSC)LDLRAP1
Gene fusions - Rearrangements
Fusion : QuiverLDLRAP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLDLRAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LDLRAP1
dbVarLDLRAP1
ClinVarLDLRAP1
1000_GenomesLDLRAP1 
Exome Variant ServerLDLRAP1
ExAC (Exome Aggregation Consortium)ENSG00000157978
GNOMAD BrowserENSG00000157978
Varsome BrowserLDLRAP1
Genetic variants : HAPMAP26119
Genomic Variants (DGV)LDLRAP1 [DGVbeta]
DECIPHERLDLRAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLDLRAP1 
Mutations
ICGC Data PortalLDLRAP1 
TCGA Data PortalLDLRAP1 
Broad Tumor PortalLDLRAP1
OASIS PortalLDLRAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLDLRAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLDLRAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LDLRAP1
DgiDB (Drug Gene Interaction Database)LDLRAP1
DoCM (Curated mutations)LDLRAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LDLRAP1 (select a term)
intoGenLDLRAP1
Cancer3DLDLRAP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603813    605747   
Orphanet22639   
DisGeNETLDLRAP1
MedgenLDLRAP1
Genetic Testing Registry LDLRAP1
NextProtQ5SW96 [Medical]
TSGene26119
GENETestsLDLRAP1
Target ValidationLDLRAP1
Huge Navigator LDLRAP1 [HugePedia]
snp3D : Map Gene to Disease26119
BioCentury BCIQLDLRAP1
ClinGenLDLRAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26119
Chemical/Pharm GKB GenePA128394641
Clinical trialLDLRAP1
Miscellaneous
canSAR (ICR)LDLRAP1 (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLDLRAP1
EVEXLDLRAP1
GoPubMedLDLRAP1
iHOPLDLRAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:16:09 CET 2018

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