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LRPAP1 Gene

protein-coding   GIFtS: 64
GCID: GC04M003508

Low Density Lipoprotein Receptor-Related Protein Associated...

(Previous name: low density lipoprotein-related protein-associated protein...)
(Previous symbol: A2MRAP)
  See LRPAP1-related diseases
at
MalaCards
 

Aliases
for LRPAP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Low Density Lipoprotein Receptor-Related Protein Associated Protein
11 2
     HBP442
A2MRAP1 2 3 5     MRAP2
Low Density Lipoprotein-Related Protein-Associated Protein 1
(Alpha-2-Macroglobulin Receptor-Associated Protein 1)1 2
     alpha-2-MRAP2
RAP2 3     Alpha-2-Macroglobulin Receptor-Associated Protein2
MYP232 5     Alpha-2-MRAP3
39 KDa Receptor-Associated Protein2     Low Density Lipoprotein Receptor-Related Protein-Associated Protein 13
A2RAP2     

External Ids:    HGNC: 67011   Entrez Gene: 40432   Ensembl: ENSG000001639567   OMIM: 1042255   UniProtKB: P305333   

Export aliases for LRPAP1 gene to outside databases

Previous GC identifers: GC04M003517 GC04M003420 GC04M003545 GC04M003551


Summaries
for LRPAP1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LRPAP1 Gene:
This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and
facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have
been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Dec 2013)

GeneCards Summary for LRPAP1 Gene:
LRPAP1 (low density lipoprotein receptor-related protein associated protein 1) is a protein-coding gene. Diseases associated with LRPAP1 include myopia 23, autosomal recessive, and myopia. GO annotations related to this gene include heparin binding and low-density lipoprotein particle receptor binding.

UniProtKB/Swiss-Prot: AMRP_HUMAN, P30533
Function: Interacts with LRP1/alpha-2-macroglobulin receptor and glycoprotein 330

Gene Wiki entry for LRPAP1 (LDL-receptor-related protein associated protein) Gene


Genomic Views
for LRPAP1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_006051.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the LRPAP1 gene promoter:
         ER-alpha   AML1a   Sp1   YY1   STAT3   FOXO1a   FOXO1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LRPAP1 promoter sequence
   Search Chromatin IP Primers for LRPAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LRPAP1


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

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

LRPAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRPAP1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M003508:  view genomic region     (about GC identifiers)

Start:
 3,505,324 bp from pter      End:
 3,534,286 bp from pter
Size:
 28,963 bases      Orientation:
 minus strand

Proteins
for LRPAP1 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AMRP_HUMAN, P30533 (See protein sequence)
Recommended Name: Alpha-2-macroglobulin receptor-associated protein precursor  
Size: 357 amino acids; 41466 Da
Subunit: Present on cell surface forming a complex with the alpha-2-macroglobulin receptor heavy and light chains.
Binds LRP1B; binding is followed by internalization and degradation
Selected PDB 3D structures from and Proteopedia for LRPAP1 (see all 9):
1LRE (3D)        1NRE (3D)        1OP1 (3D)        1OV2 (3D)        2FCW (3D)        2FTU (3D)    
Secondary accessions: D3DVR9 Q2M310 Q53HQ3 Q53HS6

Explore the universe of human proteins at neXtProt for LRPAP1: NX_P30533

Explore proteomics data for LRPAP1 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Thr134, Asn268, Thr337, Ser346
  • Modification sites at PhosphoSitePlus

    • See LRPAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002328.1  
    ENSEMBL proteins: 
     ENSP00000421922   ENSP00000421648  

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    Novus Biologicals LRPAP1 Lysate
    Sino Biological Recombinant Protein for LRPAP1
    Sino Biological Cell Lysate for LRPAP1
    ProSpec Recombinant Protein for LRPAP1
    Cloud-Clone Corp. Proteins for LRPAP1

         		 Search eBioscience for Proteins for LRPAP1 

         		antibodies-online proteins for LRPAP1 (15 products) 

         		antibodies-online peptides for LRPAP1

    LRPAP1 Antibody Products:

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    antibodies-online antibodies for LRPAP1 (62 products) 

    LRPAP1 Assay Products:

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    Cloud-Clone Corp. CLIAs for LRPAP1
    Search eBioscience for ELISAs for LRPAP1 
    antibodies-online kits for LRPAP1 (6 products) 

    Domains /
    Families
    for LRPAP1 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 2 InterPro protein domains:
     IPR010483 Alpha_2_MRAP_C
     IPR009066 MG_RAP_rcpt_1

    Graphical View of Domain Structure for InterPro Entry P30533

    ProtoNet protein and cluster: P30533

    1 Blocks protein domain: IPB009066 Alpha-2-macroglobulin receptor-associated protein

    UniProtKB/Swiss-Prot: AMRP_HUMAN, P30533
    Similarity: Belongs to the alpha-2-MRAP family


    Find genes that share domains with LRPAP1           About GenesLikeMe


    Function
    for LRPAP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMRP_HUMAN, P30533
    Function: Interacts with LRP1/alpha-2-macroglobulin receptor and glycoprotein 330

         Genatlas biochemistry entry for LRPAP1:
    low density lipoprotein receptor related protein,associated protein 1

         Gene Ontology (GO): 8 molecular function terms (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004873asialoglycoprotein receptor activity TAS2229028
    GO:0005515protein binding IPI8083232
    GO:0008201heparin binding IEA--
    GO:0035473lipase binding IEA--
    GO:0048019receptor antagonist activity IDA8083232
    GO:0050750low-density lipoprotein particle receptor binding IDA16263759
    GO:0051082unfolded protein binding TAS8654360
    GO:0070326very-low-density lipoprotein particle receptor binding IPI8083232
         
    Find genes that share ontologies with LRPAP1           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Lrpap1):
     behavior/neurological  endocrine/exocrine gland  homeostasis/metabolism  mortality/aging  nervous system 
     normal  other  renal/urinary system  reproductive system 

    Find genes that share phenotypes with LRPAP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for LRPAP1: Lrpap1tm1Vln Lrpap1tm1Her

       genOway: Develop your customized and physiologically relevant rodent model for LRPAP1

    miRNA
    Products:            		miRTarBase miRNAs that target LRPAP1:
    hsa-mir-615-3p (MIRT040189), hsa-mir-26b-5p (MIRT029205)

    Block miRNA regulation of human, mouse, rat LRPAP1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate LRPAP1
    SwitchGear 3'UTR luciferase reporter plasmid: LRPAP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LRPAP1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: LRPAP1 (NM_002337)
    Sino Biological Human cDNA Clone for LRPAP1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LRPAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRPAP1
    Addgene plasmids for LRPAP1 

    Cell Line
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    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRPAP1


    Localization
    for LRPAP1 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AMRP_HUMAN, P30533: Endoplasmic reticulum. Cytoplasm. Cell surface. Note=Intracellular and associated with cell
    surface receptors. Found in the endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    extracellular4
    cytoskeleton2
    cytosol2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA8083232
    GO:0005783endoplasmic reticulum IDA--
    GO:0005886plasma membrane IDA16263759
    GO:0009986cell surface IEA--
    GO:0016021integral component of membrane TAS1712782

    Find genes that share ontologies with LRPAP1           About GenesLikeMe


    Pathways & Interactions
    for LRPAP1 gene

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LRPAP1 About    
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1Signaling events mediated by the Hedgehog family
    		Signaling events mediated by the Hedgehog family
    2Reelin signaling pathway
    		Reelin signaling pathway
    3Lissencephaly gene (LIS1) in neuronal migration and development
    		Lissencephaly gene (LIS1) in neuronal migration and development


    3 BioSystems Pathways for LRPAP1
        Lissencephaly gene (LIS1) in neuronal migration and development
    Reelin signaling pathway
    Signaling events mediated by the Hedgehog family



        Pathway & Disease-focused RT2 Profiler PCR Array including LRPAP1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LRPAP1

    Selected Interacting proteins for LRPAP1 (P305331, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLA2Q141812, 3MINT-63655 I2D: score=5 
    RTN4Q9NQC32, 3MINT-63654 I2D: score=5 
    PPM1GO153552, 3MINT-63653 I2D: score=4 
    VLDLRP981551, 3EBI-715927,EBI-9004309 I2D: score=2 
    CWC25Q9NXE83I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding TAS8654360
    GO:0006898receptor-mediated endocytosis TAS2229028
    GO:0010916negative regulation of very-low-density lipoprotein particle clearance IDA8083232
    GO:0016192vesicle-mediated transport TAS8654360
    GO:0032091negative regulation of protein binding IDA8083232

    Find genes that share ontologies with LRPAP1           About GenesLikeMe



    Drugs & Compounds
    for LRPAP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LRPAP1 (AMRP)

    Selected Novoseek inferred chemical compound relationships for LRPAP1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    exotoxin-a 58.2 3 10326762 (1), 8694779 (1)
    mannan 31.6 1 7579446 (1)
    heparin 30.2 20 11382778 (6), 9253767 (2), 2229028 (2), 12637503 (1) (see all 5)
    lovastatin 20.6 1 7822276 (1)
    suramin 20.3 2 11604390 (2)
    mannose 18.5 1 7579446 (1)
    lysine 12 8 15025528 (3), 12637503 (2)
    cholesterol 0 3 17987404 (1), 9030194 (1), 16704534 (1)
    sucrose 0 1 8322889 (1)
    lipid 0 2 12394648 (1), 18721259 (1)



    Find genes that share compounds with LRPAP1           About GenesLikeMe



    Transcripts
    for LRPAP1 gene

    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LRPAP1 gene: 
    NM_002337.3  

    Unigene Cluster for LRPAP1:

    Low density lipoprotein receptor-related protein associated protein 1
    Hs.40966  [show with all ESTs]
    Unigene Representative Sequence: NM_002337
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000500728(uc003ghh.4) ENST00000296325 ENST00000515119 ENST00000509198

    miRNA
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    Inhib. RNA
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    Clone
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      QuantiTect SYBR Green Assays in human, mouse, rat LRPAP1
      QuantiFast Probe-based Assays in human, mouse, rat LRPAP1

    Additional mRNA sequence: 

    AF085973.1 AK128751.1 AK222504.1 AK222527.1 AK292321.1 AK311600.1 AK312698.1 AL365520.1 
    AL365522.1 BC006574.2 BC007841.1 BC013950.2 BC018955.2 BC105074.1 BC112067.1 BX647984.1 
    M63959.1 

    21 DOTS entries:

    DT.91679654  DT.450524  DT.100879558  DT.95104282  DT.311312  DT.91696992  DT.422641  DT.97858164 
    DT.100810443  DT.100879555  DT.100879544  DT.80100088  DT.92450722  DT.100719826  DT.100804237  DT.100879568 
    DT.121225776  DT.40123802  DT.40304725  DT.80100089  DT.95104287 

    Selected AceView cDNA sequences (see all 696):

    BX381548 BM700334 CR621877 BM727205 CA447726 CF265163 BQ575656 BU185055 
    CR595839 CB121214 CR613053 BQ881899 BM987580 BE275512 CD107520 AL518587 
    CR614498 W81715 BQ723211 CF132382 CB129347 BU859335 H98116 BI193075 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LRPAP1 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11
    SP1:              -     -           -                                               -     -                     
    SP2:              -     -           -                       -     -     -           -     -                     
    SP3:              -     -           -                                                                           
    SP4:              -     -           -           -     -                                                         
    SP5:              -     -                                                                                       


    ECgene alternative splicing isoforms for LRPAP1

    Expression
    for LRPAP1 gene

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    LRPAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACAGAGTCC
    LRPAP1 Expression
    About this image


    LRPAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Diencephalic Roof Plate
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    LRPAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    LRPAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.40966
        Pathway & Disease-focused RT2 Profiler PCR Array including LRPAP1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat LRPAP1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRPAP1

    Orthologs
    for LRPAP1 gene

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for LRPAP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Lrpap11 , 5 low density lipoprotein receptor-related protein associated more1, 5 80.58(n)1
    77.18(a)1    		   5 (18.01 cM)5
    169761  NM_013587.21  NP_038615.21 
     350914905 
    chicken
    (Gallus gallus)    		 Aves LRPAP11 low density lipoprotein receptor-related protein associated more 67.77(n)
    68.28(a)    		   395936  NM_205062.1  NP_990393.1 
    lizard
    (Anolis carolinensis)    		 Reptilia LRPAP16
    		 low density lipoprotein receptor-related protein a...
    		 68(a)
    		 1 ↔ 1
    		 GL343585.1(442453-445917)
    African clawed frog
    (Xenopus laevis)    		 Amphibia LOC3986432 hypothetical protein LOC398643 72.93(n)    BC054293.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii lrpap12 low density lipoprotein receptor-related protein associated more 72.59(n)   333939  BC049517.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG85071 , 3 CG85071 35(a)3
    51.5(n)1
    37.5(a)1    		   85E93
    412051  NM_141693.31  NP_649950.11 


    ENSEMBL Gene Tree for LRPAP1 (if available)
    TreeFam Gene Tree for LRPAP1 (if available)

    Paralogs
    for LRPAP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Genomic Variants
    for LRPAP1 gene

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LRPAP1 (see all 1041)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 4 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs348975111,2
    		Cuntested13526636(-) CCTCAA/GTGGTA 2 N S mis11Minor allele frequency- G:0.01NA 76
    rs755795991,2
    		F--3504859(+) CACCCC/GCTCGG 1 -- ds50011Minor allele frequency- G:0.04EA 120
    rs28580241,2
    		C,F,A,H--3504863(+) CCCTCT/GGTTCA 1 -- ds500111Minor allele frequency- G:0.39NA WA CSA EA 374
    rs1422912371,2
    		--3504892(+) CTCTCA/GGCACC 1 -- ds50010--------
    rs1512683151,2
    		--3504902(+) CCGTGC/TCACAG 1 -- ds50010--------
    rs1152445971,2
    		F--3504933(+) CGAGGC/TGAGGC 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1393305721,2
    		--3504958(+) TGGCAA/CCGCAC 1 -- ds50010--------
    rs1500336261,2
    		C--3504969(+) ACTCAC/GGCCCC 1 -- ds50010--------
    rs1453586171,2
    		--3504980(+) ACACAC/TGGATG 1 -- ds50010--------
    rs1425919531,2
    		--3505008(+) AGCTAC/TCAGCA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for LRPAP1 (3505324 - 3534286 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LRPAP1 (see all 34):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726908CNV Deletion23290073
    esv2726905CNV Deletion23290073
    esv2726904CNV Deletion23290073
    esv1183049CNV Deletion17803354
    esv2726902CNV Deletion23290073
    esv2726900CNV Deletion23290073
    esv1102085CNV Deletion17803354
    esv2726907CNV Deletion23290073
    esv1447823CNV Deletion17803354
    esv2726903CNV Deletion23290073

    Human Gene Mutation Database (HGMD): LRPAP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LRPAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for LRPAP1

    Disorders / Diseases
    for LRPAP1 gene

    (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

    TryGeneCards Plus    		 OMIM gene information: 104225   
    OMIM disorders: 615431  
    UniProtKB/Swiss-Prot: AMRP_HUMAN, P30533
  • Myopia 23, autosomal recessive (MYP23) [MIM:615431]: A refractive error of the eye, in which parallel
    rays from a distant object come to focus in front of the retina, vision being better for near objects than for
    far. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=In complex with the alpha-2-MR or gp330, it may have some role in the pathogenesis of membrane
    glomerular nephritis

    • 3 diseases for LRPAP1:    
    About MalaCards
    myopia 23, autosomal recessive    myopia    myopia 6


    Find genes that share disorders with LRPAP1           About GenesLikeMe

    7 Novoseek inferred disease relationships for LRPAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nephropathy membranous 66.8 1 9207124 (1)
    glomerulonephritis 56.4 8 8238258 (2), 9207124 (1), 10886254 (1), 7579068 (1) (see all 7)
    alzheimers disease 25.6 2 16650578 (1), 16938309 (1)
    carcinoma embryonal 23 2 2229028 (1), 7615664 (1)
    atherosclerosis 0 1 7959795 (1)
    tumors 0 4 8640836 (2), 7957939 (1)
    carcinoma 0 2 8238258 (1), 7957939 (1)

    Genetic Association Database (GAD): LRPAP1
    Human Genome Epidemiology (HuGE) Navigator: LRPAP1 (21 documents)

    Export disorders for LRPAP1 gene to outside databases

    Publications
    for LRPAP1 gene

    (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

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    PubMed articles for LRPAP1 gene, integrated from 10 sources (see all 211):
    (articles sorted by number of sources associating them with LRPAP1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of the human LRPAP1 gene coding for the lipoprotein receptor-associated protein: identification of 22 polymorphisms and one mutation. (PubMed id 9782079)1, 2, 4, 9 Van Leuven F.... Nelissen B. (Genomics 1998)
    2. Primary structure of alpha 2-macroglobulin receptor-associated protein. Human homologue of a Heymann nephritis antigen. (PubMed id 1712782)1, 2, 3 Strickland D.K.... Argraves W.S. (J. Biol. Chem. 1991)
    3. 39 kDa receptor-associated protein is an ER resident protein and molecular chaperone for LDL receptor-related protein. (PubMed id 7774585)1, 2, 9 Bu G.... Schwartz A.L. (EMBO J. 1995)
    4. Cloning, characterization, and chromosomal localization to 4p16 of the human gene (LRPAP1) coding for the alpha 2-macroglobulin receptor- associated protein and structural comparison with the murine gene coding for the 44-kDa heparin-binding protein. (PubMed id 7789983)1, 2, 9 Van Leuven F.... Van den Berghe H. (Genomics 1995)
    5. The 39-kDa receptor-associated protein interacts with two members of the low density lipoprotein receptor family, alpha 2-macroglobulin receptor and glycoprotein 330. (PubMed id 1400426)1, 2, 9 Kounnas M.Z.... Strickland D.K. (J. Biol. Chem. 1992)
    6. Lipoprotein receptor associated protein (LRPAP1) insertion/deletion polymorphism: association with gallbladder cancer susceptibility. (PubMed id 17987404)1, 4, 9 Pandey S.N....Mittal B. (Int J Gastrointest Cancer 2006)
    7. Alpha2-macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease. (PubMed id 16650578)1, 4, 9 Depboylu C....Dodel R.C. (Neurosci. Lett. 2006)
    8. Low-density lipoprotein receptor-related protein-associated protein (LRPAP1) gene IVS5 insertion/deletion polymorphism is not a risk factor for gallstone disease in a Polish population. (PubMed id 17913606)1, 4, 9 Juzyszyn Z....DroA_dzik M. (Dig Liver Dis 2008)
    9. RAP uses a histidine switch to regulate its interaction with LRP in the ER and Golgi. (PubMed id 16678114)1, 2, 9 Lee D.... Wang Y.-X. (Mol. Cell 2006)
    10. Association of low density lipoprotein receptor related protein-associated protein (LRPAP1) gene insertion/deletion polymorphism with gallstone disease. (PubMed id 16704534)1, 4, 9 Dixit M....Mittal B. (J. Gastroenterol. Hepatol. 2006)

    External Searches for LRPAP1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing LRPAP1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 4043 HGNC: 6701 AceView: LRPAP1 Ensembl:ENSG00000163956 euGenes: HUgn4043
    ECgene: LRPAP1 H-InvDB: LRPAP1

    Other Databases showing LRPAP1 gene

    (According to HUGE)
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    Specialized Databases showing LRPAP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for LRPAP1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for LRPAP1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for LRPAP1 gene:
    Search GeneIP for patents involving LRPAP1

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



    Products
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