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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LDLRAP1 Gene

protein-coding   GIFtS: 60
GCID: GC01P025870

Low Density Lipoprotein Receptor Adaptor Protein 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Low Density Lipoprotein Receptor Adaptor Protein 11 2     ARH12
ARH2 3 5     ARH22
Autosomal Recessive Hypercholesterolemia Protein2 3     LDL Receptor Adaptor Protein2
FHCB12 5     Low Density Lipoprotein Receptor Adapter Protein 12
FHCB22 5     

External Ids:    HGNC: 186401   Entrez Gene: 261192   Ensembl: ENSG000001579787   OMIM: 6057475   UniProtKB: Q5SW963   

Export aliases for LDLRAP1 gene to outside databases

Previous GC identifers: GC01P025574 GC01P025742 GC01P024124


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LDLRAP1 Gene:
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The
PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead
to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. (provided by
RefSeq, Jul 2008)

GeneCards Summary for LDLRAP1 Gene: 
LDLRAP1 (low density lipoprotein receptor adaptor protein 1) is a protein-coding gene. Diseases associated with LDLRAP1 include familial hypercholesterolemia, autosomal recessive, and hypercholesterolemia, and among its related super-pathways are Endocytic Trafficking of EGFR. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and clathrin binding. An important paralog of this gene is NUMB.

UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96
Function: 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

Gene Wiki entry for LDLRAP1 (Low density lipoprotein receptor adapter protein 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LDLRAP1 gene promoter:
         Tal-1   AP-2alpha isoform 3   AP-2alpha isoform 2   Tal-1beta   E47   AP-2alpha isoform 4   AP-2alpha   ITF-2   Pax-4a   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for LDLRAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LDLRAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36-p35   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36-p35

LDLRAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LDLRAP1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P025870:  view genomic region     (about GC identifiers)

Start:
25,870,071 bp from pter      End:
25,895,377 bp from pter
Size:
25,307 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96 (See protein sequence)
Recommended Name: Low density lipoprotein receptor adapter protein 1  
Size: 308 amino acids; 33885 Da
Subunit: Interacts with LDLR. Binds to soluble clathrin trimers. Interacts with AP2B1; the interaction mediates
the association with the AP-2 complex. Interacts with VLDLR (By similarity)
Subcellular location: Cytoplasm
1 PDB 3D structure from and Proteopedia for LDLRAP1:
2G30 (3D)    
Secondary accessions: A2BHI5 Q6TQS9 Q8N2Y0 Q9UFI9

Explore the universe of human proteins at neXtProt for LDLRAP1: NX_Q5SW96

Explore proteomics data for LDLRAP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5SW96

  • LDLRAP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LDLRAP1 Protein Expression
    REFSEQ proteins: NP_056442.2  
    ENSEMBL proteins: 
     ENSP00000363458  

    Human Recombinant Protein Products for LDLRAP1: 
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    Cloud-Clone Corp. Proteins for LDLRAP1 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005769early endosome IDA14528014
    GO:0005829cytosol IDA12451172
    GO:0005883neurofilament ISS17727637
    GO:0009898internal side of plasma membrane IDA14528014

    LDLRAP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR006020 PTyr_interaction_dom
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q5SW96

    ProtoNet protein and cluster: Q5SW96

    1 Blocks protein domain: IPB006020 Phosphotyrosine interaction domain

    UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96
    Domain: The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction the AP-2 complex subunit AP2B1
    Similarity: Contains 1 PID domain


    LDLRAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARH_HUMAN, Q5SW96
    Function: 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

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding IPI12805363
    GO:0001784phosphotyrosine binding IDA12451172
    GO:0005515protein binding IPI12221107
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IDA12451172
    GO:0030159receptor signaling complex scaffold activity IMP15166224
         
    LDLRAP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Ldlrap1):
     homeostasis/metabolism 

    LDLRAP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ldlrap1tm1Her for LDLRAP1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LDLRAP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LDLRAP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LDLRAP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LDLRAP1 

    miRNA
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    miRTarBase miRNAs that target LDLRAP1:
    hsa-mir-124 (MIRT004928)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LDLRAP1
    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate LDLRAP1 (see all 32):
    hsa-miR-607 hsa-miR-3607-3p hsa-miR-106a hsa-miR-4272 hsa-miR-218-1* hsa-miR-29a hsa-miR-124 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidLDLRAP1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDLRAP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LDLRAP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Endocytic Trafficking of EGFR
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)0.35
    2Endocytosis
    Endocytosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for LDLRAP1
        Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)


    1         Kegg Pathway  (Kegg details for LDLRAP1):
        Endocytosis


    LDLRAP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LDLRAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/605 Interacting proteins for LDLRAP1 (Q5SW962, 3 ENSP000003634584) via UniProtKB, MINT, STRING, and/or I2D (see all 605)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP2B1P630103, ENSP000003144144I2D: score=4 STRING: ENSP00000314414
    LRP2P981643, ENSP000002638164I2D: score=2 STRING: ENSP00000263816
    APPP050673, ENSP000002849814I2D: score=1 STRING: ENSP00000284981
    LRP1Q079543, ENSP000002430774I2D: score=1 STRING: ENSP00000243077
    LDLRP011303, ENSP000002524444I2D: score=2 STRING: ENSP00000252444
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport NAS12451172
    GO:0006898receptor-mediated endocytosis IDA14528014
    GO:0008203cholesterol metabolic process NAS12451172
    GO:0009967positive regulation of signal transduction IDA12221107
    GO:0031623receptor internalization IMP15166224

    LDLRAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LDLRAP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LDLRAP1 (ARH)

    2 Novoseek inferred chemical compound relationships for LDLRAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 63.5 4 12642779 (2), 12944396 (1), 11326085 (1)
    cholesterol 40.5 1 17686643 (1)

    Search CenterWatch for drugs/clinical trials and news about LDLRAP1 / ARH

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LDLRAP1 gene: 
    NM_015627.2  

    Unigene Cluster for LDLRAP1:

    Low density lipoprotein receptor adaptor protein 1
    Hs.590911  [show with all ESTs]
    Unigene Representative Sequence: AK024397
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374338(uc001bkl.4 uc009vrw.3 uc009vrx.3) ENST00000485476
    ENST00000488127 ENST00000462394 ENST00000484476 ENST00000474283 ENST00000470950

    miRNA
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    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate LDLRAP1 (see all 32):
    hsa-miR-607 hsa-miR-3607-3p hsa-miR-106a hsa-miR-4272 hsa-miR-218-1* hsa-miR-29a hsa-miR-124 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidLDLRAP1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK024397.1 AK091219.1 AK124554.1 AK309850.1 AK309853.1 AL117654.1 BC029770.1 

    14 DOTS entries:

    DT.455406  DT.101978968  DT.99990464  DT.121357757  DT.95126865  DT.121357677  DT.91694368  DT.97846831 
    DT.100693499  DT.121357751  DT.75113596  DT.86847093  DT.95273805  DT.121357760 

    24/203 AceView cDNA sequences (see all 203):

    AA464113 BU175021 BU786100 AI335106 BU786226 AI168056 AW590198 BM989106 
    CB853699 AI671247 BQ877331 AI241854 BQ549641 BQ447186 BE736664 BU786030 
    BM701928 AI990732 BM764670 BM671079 BM826858 CD743132 AI378847 AI917239 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LDLRAP1 expression in normal human tissues (normalized intensities)      LDLRAP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LDLRAP1 Expression
    About this image


    LDLRAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 7 entries
             T-Cytotoxic Cells Thymus
             lung ; macrophages   
             platelets   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Epithelium
             cervix, uterine ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   

    See LDLRAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LDLRAP1

    SOURCE GeneReport for Unigene cluster: Hs.590911

    UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96
    Tissue specificity: Expressed at high levels in the kidney, liver, and placenta, with lower levels detectable in
    brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes

        SABiosciences Expression via Pathway-Focused PCR Array including LDLRAP1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDLRAP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for LDLRAP1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ldlrap11 , 5 low density lipoprotein receptor adaptor protein 11, 5 86.21(n)1
    89.9(a)1
      4 (67.09 cM)5
    1000171  NM_145554.21  NP_663529.21 
     1347447355 
    chicken
    (Gallus gallus)
    Aves LDLRAP11 low density lipoprotein receptor adaptor protein 1 70.7(n)
    73.53(a)
      419589  XM_417736.3  XP_417736.1 
    lizard
    (Anolis carolinensis)
    Reptilia LDLRAP16
    --
    Uncharacterized protein
    89(a)
    53(a)
    1 ↔ 1
    possible ortholog
    GL343703.1(243755-257810)
    AAWZ02038838(1587-10211)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.83552 Xenopus laevis, clone IMAGE4930486, mRNA 75.77(n)    BC043872.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb502 sbcb50 79.45(n)   368278  BC045926.1 


    ENSEMBL Gene Tree for LDLRAP1 (if available)
    TreeFam Gene Tree for LDLRAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LDLRAP1 gene
    NUMB2  NUMBL2  GULP12  

    LDLRAP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/656 SNPs in LDLRAP1 are shown (see all 656)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0233204
    Hypercholesterolemia, autosomal recessive (ARH)4--see VAR_0233202 S H mis40--------
    rs1219083261,2
    C,Fpathogenic126103800(+) CCCCTC/ACTTGA 2 /Y /S mis11Minor allele frequency- A:0.00EU 1183
    rs1126865021,2
    C--24148354(+) ATTTTC/TCCCCC 1 -- ut310--------
    rs745070941,2
    C,F--25873990(+) AAATAG/AATAAA 1 -- int12Minor allele frequency- A:0.33WA CSA 3
    rs1137941141,2
    C,F--25874948(+) ATTCTC/TCTGCC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs350277421,2
    C--25884382(+) TCTTC-/TTTTTT 1 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs359102701,2
    C--25893928(+) AGTGAT/-TTTTC 1 -- ut311Minor allele frequency- -:0.00NA 2
    rs106359551,2
    C--25894468(+) GAAACTG/-AGGCC 1 -- ut312Minor allele frequency- -:0.00NA CSA 4
    rs354044751,2
    C--25894469(+) AAACA-/T/TG  
            
    GGCCT
    2 -- ut310--------
    rs1924625721,2
    --26082260(+) TGGGCA/GCCCAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for LDLRAP1 (25870071 - 25895377 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LDLRAP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv870470CNV Gain21882294


    Human Gene Mutation Database (HGMD): LDLRAP1

    Locus Specific Mutation Databases (LSDB): LDLRAP1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605747   
    OMIM disorders: 603813  
    UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96
  • Hypercholesterolemia, autosomal recessive (ARH) [MIM:603813]: A familial condition characterized by
    elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density
    lipoproteins. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for LDLRAP1:    About MalaCards
    familial hypercholesterolemia, autosomal recessive    hypercholesterolemia    xanthomatosis    familial hypercholesterolemia
    scrapie    atherosclerosis    hepatitis b    hepatitis


    LDLRAP1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for LDLRAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypercholesterolemia, autosomal recessive 98.4 15 17686643 (2), 15599766 (2), 12535754 (2), 11326085 (2) (see all 10)
    xanthomatosis 84.5 2 15599766 (1), 12642779 (1)
    hypercholesterolemia familial 79.5 2 17150201 (1), 11326085 (1)
    hypercholesterolemia 71.5 10 12535754 (2), 16129683 (1), 17150201 (1), 15472122 (1) (see all 8)
    coronary artery disease 25.1 2 15599766 (1), 12642779 (1)
    atherosclerosis 22 1 17686643 (1)

    Genetic Association Database (GAD): LDLRAP1
    Human Genome Epidemiology (HuGE) Navigator: LDLRAP1 (6 documents)

    Export disorders for LDLRAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LDLRAP1 gene, integrated from 9 sources (see all 61):
    (articles sorted by number of sources associating them with LDLRAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. (PubMed id 11326085)1, 2, 9 Garcia C.K.... Hobbs H.H. (2001)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    3. Prevalence and clinical features of heterozygous carr iers of autosomal recessive hypercholesterolemia in Sardinia. (PubMed id 19477448)1, 4 Filigheddu F....Arca M. (2009)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    5. Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein. (PubMed id 15728179)1, 2 Mishra S.K....Traub L.M. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery. (PubMed id 12451172)1, 2 Mishra S.K.... Traub L.M. (2002)
    8. ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2. (PubMed id 12221107)1, 2 He G.... Cohen J.C. (2002)
    9. Molecular mechanisms of autosomal recessive hypercholesterolemia. (PubMed id 12417523)1, 2 Wilund K.R.... Cohen J.C. (2002)
    10. Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes. (PubMed id 16129683)1, 9 Sirinian M.I....Arca M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26119 HGNC: 18640 AceView: ARH Ensembl:ENSG00000157978 euGenes: HUgn26119
    ECgene: LDLRAP1 Kegg: 26119 H-InvDB: LDLRAP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LDLRAP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LDLRAP1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LDLRAP1 gene:
    Search GeneIP for patents involving LDLRAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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