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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  

(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


(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, high, with cataract and vitreoretinal degeneration. 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


(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 plasmidLRPAP1 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

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, 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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    Cloud-Clone Corp. Proteins for LRPAP1

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


    (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,
    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): Selected molecular function terms (see all 8):    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
         
    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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LRPAP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LRPAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LRPAP1

    miRNA
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    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 plasmidLRPAP1 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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    Addgene plasmids for LRPAP1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRPAP1


    (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


    (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

    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



    (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



    (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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      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 

    696 AceView cDNA sequences (see top 24):

    BX381548 BM700334 CR621877 BM727205 CA447726 CF265163 BQ575656 BU185055 
    CR595839 CB121214 CR613053 BQ881899 BM987580 BE275512 CD107520 AL518587 
    CR614498 W81715 BQ723211 CF132382 CB129347 BU859335 H98116 BI193075 
    CA428688 BM924592 CR605976 BQ675077 CB157694 BE383858 CR596948 BU579630 
    AA324002 AI572479 CR619388 BQ434613 AI151446 BQ668698 CD513115 AA311422 
    BM711920 AI089128 BG333801 BU675722 BE796768 AA088229 CR604363 BX399454 
    CR604735 CR591537 CR624552 BG323249 BQ683366 BQ950420 F07402 AW514873 
    BG281808 CR607197 AL577900 BQ689723 CR617514 AI815082 AA770339 CR625424 
    AI583516 BM852714 BX334930 CD517573 BQ637162 CD106275 AL520928 AI867074 
    CR619887 AI754943 CR611476 BQ669156 CR591442 BQ897642 BU156740 AA909714 
    BQ128256 BQ720360 BM709427 AU118613 BF025878 BX424900 BU179046 CF529220 
    CR606004 CB155075 BU186892 BQ950417 CF264726 AA346285 BU579870 CD251666 
    BU150674 BI913337 AA126097 BQ673271 AI537007 CF265155 BM314081 BQ067447 
    AA487306 CD675693 CA777028 BM829185 CR599568 CF242842 BQ646733 BX379126 
    CR597384 CR603866 CR607312 R32206 BQ677169 CR626102 AA364822 CR603821 
    BX458886 BU739271 CF131155 BI910583 H93142 AI624250 BM699312 BQ919623 
    CD368695 CR601277 AA315401 BQ708990 BX642367 CR616455 BU845958 BU155418 
    BX283931 CR618610 BG745392 BQ672325 CN481187 BM973798 BM700235 BG745631 
    BU180312 CR601788 AA954128 CA427917 CF264849 CF126327 BU149808 BU624312 
    CR607263 BQ681486 BQ008423 BM925025 BQ711429 R32165 BF724449 BM796862 
    BU161097 BI771239 CR625232 BU740767 CA432162 BU733368 CD106780 BU155748 
    BQ680640 BQ008640 BF724850 CD108126 BG334406 BM313801 CR625692 BI834575 
    BM263629 BU543816 CA307021 L34966 BP353134 BP382038 BF984627 BX375284 
    BX337024 BQ924135 BQ674900 BU185293 BM975054 BM984672 CA487951 AI272361 
    AA313744 BI827186 BP362260 BX357911 BI759002 AA478255 CA449229 AA401020 
    BM669531 AW304741 BG825886 BM996574 BG746209 CA395818 BE877426 AI188104 
    AA975677 AL555377 BI160867 BG477274 BG331403 BI916857 BM046593 CB137049 
    BM544005 AW247481 BE730977 BX353713 BQ674357 H52483 AA345319 BQ682814 
    CB129968 BF036684 BQ012505 AA374462 BX438827 BI912626 BV190061 BQ016049 
    CA419552 BF313017 AA535235 BV190196 BG167320 BQ127993 BP352597 BG822403 
    AA080928 AI079780 BI763226 AI811118 BE386418 BG163545 AA595072 BU737964 
    BM791746 BX385618 BQ215032 BG745757 CA777238 BQ923632 BE275900 BG110949 
    BI862113 BE274218 CA426974 BQ001629 BE540944 BG820093 BE909994 CB120898 
    BU173677 BM906307 BU737988 BX355802 BP369520 BM850877 BP381629 AA563744 
    BQ677459 BX492422 CB107134 AA583031 BP431946 BG430812 AW473343 BQ681160 
    AA365751 BG326979 F19128 CB161688 BU838910 CB148643 BQ682241 CA776747 
    BM711472 BM852155 BM310089 BI161041 AW247344 AW167361 BF347265 BM742353 
    AL580222 AW026266 BQ070364 AA829299 CF128084 BI669036 BM665720 BF342458 
    CD692683 CA424932 BM263338 BM826334 AA349095 BI754878 F08754 BM555362 
    AA594775 BF727197 BM091573 BI601792 BU171461 AW473267 BG722951 BM723833 
    BX357722 CF265009 CD614665 BX335156 NM_002337 AI589536 BM507200 BU163394 
    BX396548 CA438848 BX335155 BI601948 BF968932 BF034916 AA668921 BX355803 
    BQ683217 BG323705 AI368068 BE385001 BX337825 BF529652 BQ943219 CA748866 
    BU163148 BG282176 BG761204 BP381599 BI670330 BU683409 AL550423 AW006761 
    BM545224 AA322094 BG678989 BQ420620 BE645847 AV694332 BI602314 BE741320 
    AI129756 BX647984 CF131044 BQ684498 BU185712 BX399382 BP367523 BP336419 
    AW207565 AW190672 AI539861 BI763803 BE167478 BQ710363 BQ694313 BQ008372 
    AA975056 BF726664 BQ956089 CB123400 BX337934 BQ445888 BQ011634 CF126445 
    AA703528 AI890820 BX329562 BG168453 BU838233 BM857161 AW516952 BQ068386 
    AA165603 BG703958 AA487155 AL558387 AV684684 BE620421 BQ683934 BX357261 
    AL709309 BU167180 BG280920 BQ008982 BG701512 CF243155 BG168512 BG545725 
    BU194192 CA416735 BX376228 BX337935 BQ945010 BG539610 BQ948629 BQ072910 
    BM310352 BM686256 AI202759 BX476525 BF724494 BX380288 BQ045468 BQ776096 
    BQ448007 BQ054042 M63959 BG623450 BU190831 CB306089 AI131173 BI092977 
    BX357910 BX490082 CF140462 AA122233 AW117804 CD579407 AA654302 BM686699 
    W60426 F03638 BG282032 BI818941 BI824970 BU728056 AL518777 BG926728 
    AW276644 BG002462 AI300414 BF125470 AL547550 BF445926 BM091277 BF038402 
    AA676602 AA630483 T28875 BU192808 AI922920 BG105098 BE905094 AV694545 
    AW250582 AA622227 AA040390 BG402558 AI627592 AI693244 BM008390 AK128751 
    BC006574 AW672885 BQ710391 AU099889 AL035999 R01169 AA886301 BP370882 
    BF315181 BX375436 BX386966 AL518778 BQ677407 N79580 BG704282 AA151981 
    BU071491 BF529883 AA160306 BP381150 N90264 BC007841 AI784287 AL574287 
    BI602018 BX385617 BX337023 AL558992 BF347234 BF448985 AA348801 H46924 
    AA532777 AA595075 BG767447 BX642368 BC013950 AI149523 AA303462 AL548347 
    T15923 BQ678045 BC018955 AA299554 BI087739 AA146618 AL561929 BX340859 
    BX337824 BG231593 AW148499 W74711 W46142 BE047622 BE327982 CB956055 
    BF173199 AA563728 H50380 AI919544 AI093757 AI032610 AA121449 BG015933 
    AA121311 AI185129 AI932567 AI445446 H50347 AA364673 AA323943 T97998 
    BE540382 CD614662 AA384484 BI763151 BE727620 AA295569 AA885967 AA121454 
    BQ673436 BP353096 AU159628 AW515346 AW962060 BX376227 AW974976 AA088374 
    AV701777 W81252 AW275902 AU135239 CD614664 AI279861 CF141488 BI824306 
    AA223554 H47028 AW961997 AW262768 AA679106 AA844540 AI668871 AW250525 
    AA401029 CA776953 CD579573 AA293764 AI279643 AA478254 T80641 BG483519 
    AI559856 AA588088 N34241 CA944454 BF694098 AA243045 CD579826 BF812549 
    AA855172 AA486209 AA917572 AI313206 BI768691 BX380723 AA165484 N93206 
    AL046867 BG948944 AI089127 AI783812 BQ354685 AI356099 BF347800 AA617902 
    BE548236 AL580674 W74680 AA411319 AI077804 BE967657 N99909 L34970 
    N25642 AA917574 BG015938 BM477919 AA143549 BX386965 AL572435 BM714639 
    BE732050 BX357260 AI869746 AA576384 BG951603 BE929303 W46154 AI693789 
    BX417360 AA595267 AA876903 W16615 AA771905 CA434866 AA132375 BF871998 
    AA533736 BE298537 BM914761 BG702698 AL529267 CF139856 W39205 BU174324 
    BE281604 BI057918 BF058604 AA121317 BI552821 W56164 BI910608 AA829566 
    W25287 AA150529 AA040494 BE707518 AL558964 BX377274 H93173 AA132619 
    BI058182 AW675563 BG769388 BX351653 AI160555 AA622989 AA075750 AL544047 
    H46923 AL563400 AA776413 H46489 AL572938 T98076 T72463 AA555162 
    W38958 BQ369239 AW577008 AA126171 BQ369034 AA121110 CF264763 AA552040 
    AI186093 H52482 BG236822 BG960046 BI763024 AA243044 BX445233 R01280 

    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

    (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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRPAP1

    (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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (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)
    About This Section

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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

    (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

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    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, high, with cataract and vitreoretinal degeneration    myopia


    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

    (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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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

    (According to HUGE)
    About This Section

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    (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

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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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