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

LDLRAP1 Gene

protein-coding   GIFtS: 56
GCID: GC01P025870

low density lipoprotein receptor adaptor protein 1

 Explore 8 diseases affiliated with
LDLRAP1 via our new
 Human Malady Compendium 
Biological research products
for LDLRAP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Low Density Lipoprotein Receptor Adaptor Protein 11 2     DKFZp586D06241
ARH1 2 3 5     MGC347051
FHCB11 2 5     ARH12
FHCB21 2 5     LDL Receptor Adaptor Protein2
ARH21 2     Low Density Lipoprotein Receptor Adapter Protein 12
Autosomal Recessive Hypercholesterolemia Protein2 3     

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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004610.19  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5SW96

  • LDLRAP1 Protein expression data from MOPED and PaxDb:    About this image 
    LDLRAP1 Protein Expression
    REFSEQ proteins: NP_056442.2  
    ENSEMBL proteins: 
     ENSP00000363458  

    Human Recombinant Protein Products for LDLRAP1: 
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    Novus Biologicals LDLRAP1 Proteins
    Novus Biologicals LDLRAP1 Lysates
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    ProSpec Recombinant Protein for LDLRAP1
    Uscn 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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    LDLRAP1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR011993 PH_like_dom
     IPR006020 PTyr_interaction_dom

    Graphical View of Domain Structure for InterPro Entry Q5SW96

    ProtoNet protein and cluster: Q5SW96

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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:
         Mouse knock-out Ldlrap1tm1Her for LDLRAP1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LDLRAP1 

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

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    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
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    Clone
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    In Situ Assay
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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, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Endocytosis
    Endocytosis1.00
    2Transport of MHC II:Ii complex along Golgi to TGN
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)0.00

    Pathway sources
    See GeneCards unified pathways
    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)

    5/577 Interacting proteins for LDLRAP1 (Q5SW962, 3 ENSP000003634584) via UniProtKB, MINT, STRING, and/or I2D (see all 577)
    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, 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
    2 Novoseek 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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


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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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    Clone
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    Additional cDNA 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):

    BU786100 BQ877331 BQ447186 BM701928 AI335106 BQ549641 BM826858 BU175021 
    BU786030 AI168056 CD743132 AW590198 BU786226 BM764670 AI671247 BM671079 
    AI241854 AA464113 AI990732 BE736664 BM989106 CB853699 AI378847 R88539 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    LDLRAP1 Expression
    About this image
    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: 
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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 animals.

    Orthologs for LDLRAP1 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    88(a)
    1 ↔ 1
    GL343703.1(243755-247725)
    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 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    --
    37(a)
    31(a)
    1 ↔ many
    1 ↔ many
    Group3.31(655-81486)
    GroupUn.4328(8340-13752)


    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, UniProtKB, 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

    10/524 NCBI SNPs in LDLRAP1 are shown (see all 524    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219083261,2
    C,Fpathogenic24144055(+) CCCCTC/ACTTGA 2 /Y /S mis12Minor allele frequency- A:0.00NA EU 5535
    rs740634791,2
    C,F--24122536(+) TCCATG/AGGTGG 1 -- us2k14Minor allele frequency- A:0.08WA NA 242
    rs1138242871,2
    --24123447(+) GGTGGC/TCCAGC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs762614901,2
    C,F--24123623(+) GGCTTT/CGAATG 1 -- us2k12Minor allele frequency- C:0.11WA NA 238
    rs755447361,2
    F--24125196(+) ACCGGG/ACCAAC 1 -- int11Minor allele frequency- A:0.05WA 118
    rs766668591,2
    C,F--24125902(+) TGTGGC/TCGCCT 1 -- int11Minor allele frequency- T:0.04WA 118
    rs728719991,2
    C,F--24125904(+) TGGCCG/ACCTCC 1 -- int13Minor allele frequency- A:0.11WA 122
    rs774963201,2
    C,F--24125942(+) ATGTGG/AGGTGG 1 -- int11Minor allele frequency- A:0.04WA 118
    rs772814141,2
    C--24126051(+) CCTTTA/GAAAAC 1 -- int13Minor allele frequency- G:0.11CSA WA NA 239
    rs753233561,2
    C,F--24126250(+) GTAGCC/TGCTTT 1 -- int11Minor allele frequency- T:0.06WA 118

    HapMap Linkage Disequilibrium report for LDLRAP1 (25870071 - 25895377 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for LDLRAP1: --
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    LDLRAP1 for disorders           About GeneDecksing

    OMIM gene information: 605747   
    OMIM disorders: 603813  
    UniProtKB/Swiss-Prot: ARH_HUMAN, Q5SW96
  • Defects in LDLRAP1 are the cause of autosomal recessive hypercholesterolemia (ARH) [MIM:603813]. ARH is a
  • disorder caused by defective internalization of LDL receptors (LDLR) in the liver. ARH has the clinical features of
    familial hypercholesterolemia (FH) [MIM:143890] homozygotes, including severely elevated plasma LDL cholesterol,
    tuberous and tendon xanthomata, and premature atherosclerosis. LDL receptor (LDLR) activity measured in skin
    fibroblasts is normal, as the LDL binding ability

    8 diseases for LDLRAP1:    About MalaCards
    hypercholesterolemia    xanthomatosis    familial hypercholesterolemia    scrapie
    hepatitis b    myeloma    hepatitis    cholesterol

    6 Novoseek 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)

    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 57):
    (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. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. Molecular mechanisms of autosomal recessive hypercholesterolemia. (PubMed id 12417523)1, 2 Wilund K.R.... Cohen J.C. (2002)
    8. 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)
    9. Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene. (PubMed id 17686643)1, 9 Quagliarini F....Arca M. (2007)
    10. A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. (PubMed id 15599766)1, 9 Canizales-Quinteros S....Tusie-Luna M.T. (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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