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PAPPA Gene

protein-coding   GIFtS: 65
GCID: GC09P118916

Pregnancy-Associated Plasma Protein A, Pappalysin 1

  See PAPPA-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
Pregnancy-Associated Plasma Protein A, Pappalysin 11 2     ASBABP22
Aspecific BCL2 ARE-Binding Protein 21 2     DIPLA12
Differentially Placenta 1 Expressed Protein1 2     PAPA2
Insulin-Like Growth Factor-Dependent IGF Binding Protein-4 Protease1 2     PAPPA12
Insulin-Like Growth Factor-Dependent IGF-Binding Protein 4 Protease2 3     pappalysin-12
IGFBP-4ase2 3     Pregnacy-Associated Plasma Protein A2
PAPP-A2 3     EC 3.4.24.793
IGF-Dependent IGFBP-4 Protease2 3     Pregnancy-Associated Plasma Protein A3

External Ids:    HGNC: 86021   Entrez Gene: 50692   Ensembl: ENSG000001827527   OMIM: 1763855   UniProtKB: Q132193   

Export aliases for PAPPA gene to outside databases

Previous GC identifers: GC09P109744 GC09P110677 GC09P112369 GC09P114292 GC09P115995 GC09P117955


(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 PAPPA Gene:
This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs).
It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low
plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses.
(provided by RefSeq, Jul 2008)

GeneCards Summary for PAPPA Gene:
PAPPA (pregnancy-associated plasma protein A, pappalysin 1) is a protein-coding gene. Diseases associated with PAPPA include limb-girdle muscular dystrophy type 2h, and tricuspid valve insufficiency. GO annotations related to this gene include metallopeptidase activity and endopeptidase activity. An important paralog of this gene is PAPPA2.

UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219
Function: Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of bound IGF.
Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage of IGFBP-5 is slightly
inhibited by the presence of IGF

Gene Wiki entry for PAPPA (Pregnancy-associated plasma protein A) 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_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PAPPA gene promoter:
         Oct-B1   oct-B3   oct-B2   Nkx2-5   YY1   PPAR-alpha   PPAR-gamma1   PPAR-gamma2   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PAPPA promoter sequence
   Search Chromatin IP Primers for PAPPA

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


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

Entrez Gene cytogenetic band: 9q33.2   Ensembl cytogenetic band:  9q33.1   HGNC cytogenetic band: 9q33.1

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P118916:  view genomic region     (about GC identifiers)

Start:
118,916,071 bp from pter      End:
119,164,601 bp from pter
Size:
248,531 bases      Orientation:
plus 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., 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219 (See protein sequence)
Recommended Name: Pappalysin-1 precursor  
Size: 1627 amino acids; 180973 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homodimer; disulfide-linked. In pregnancy serum, predominantly found as a disulfide-linked 2:2
heterotetramer with the proform of PRG2
Developmental stage: Present in serum and placenta during pregnancy; levels increase throughout pregnancy
Sequence caution: Sequence=AAC50543.1; Type=Frameshift; Positions=51, 67;
Secondary accessions: B1AMF9 Q08371 Q68G52 Q9UDK7

Explore the universe of human proteins at neXtProt for PAPPA: NX_Q13219

Explore proteomics data for PAPPA at MOPED

Post-translational modifications: 

  • There appear to be no free sulfhydryl groups1
  • Glycosylation2 at Asn390, Asn402, Asn429, Asn480, Asn601, Asn619, Asn725, Asn825, Asn1026, Asn1222,
                                 Asn1226, Asn1323, Asn1465, Asn1519
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_002572.2  
    ENSEMBL proteins: 
     ENSP00000330658   ENSP00000441461  
    Reactome Protein details: Q13219

    PAPPA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for PAPPA (Pappalysin-1/PAPP-A)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PAPPA
    GenScript Custom Purified and Recombinant Proteins Services for PAPPA
    Novus Biologicals PAPPA Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PAPPA
    Cloud-Clone Corp. Proteins for PAPPA

     
    Search eBioscience for Proteins for PAPPA 

     
    antibodies-online proteins for PAPPA (15 products) 

     
    Search antibodies-online for peptides for PAPPA

    PAPPA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    ThermoFisher Antibodies for PAPPA
    LSBio Antibodies in human, mouse, rat for PAPPA
    antibodies-online antibodies for PAPPA (111 products) 

    PAPPA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for PAPPA (Pappalysin-1/PAPP-A)         (see all)
    GenScript Custom Assay Services for PAPPA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PAPPA
    Cloud-Clone Corp. CLIAs for PAPPA
    Search eBioscience for ELISAs for PAPPA 
    antibodies-online kits for PAPPA (32 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR024079 MetalloPept_cat_dom
     IPR011936 Myxo_disulph_rpt
     IPR013320 ConA-like_subgrp
     IPR000436 Sushi_SCR_CCP
     IPR008754 Peptidase_M43

    Graphical View of Domain Structure for InterPro Entry Q13219

    ProtoNet protein and cluster: Q13219

    1 Blocks protein domain: IPB000436 Sushi domain/SCR domain/CCP module

    UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219
    Similarity: Belongs to the peptidase M43B family
    Similarity: Contains 5 Sushi (CCP/SCR) domains


    Find genes that share domains with PAPPA           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: PAPP1_HUMAN, Q13219
    Function: Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of bound IGF.
    Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage of IGFBP-5 is slightly
    inhibited by the presence of IGF
    Catalytic activity: Cleavage of the 135-Met- -Lys-136 bond in insulin-like growth factor binding protein
    (IGFBP)-4, and the 143-Ser- -Lys-144 bond in IGFBP-5
    Enzyme regulation: Inhibited by complexation with the proform of PRG2
    Induction: By 8-bromoadenosine-3',5'-phosphate

         Genatlas biochemistry entry for PAPPA:
    pregnancy-associated plasma protein A

         Enzyme Number (IUBMB): EC 3.4.24.791

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity IEA--
    GO:0005515protein binding ----
    GO:0008233peptidase activity ----
    GO:0008237metallopeptidase activity NAS10913121
    GO:0008270zinc ion binding NAS10077652
         
    Find genes that share ontologies with PAPPA           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PAPPA:
     Bright nuclei 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pappa):
     cardiovascular system  growth/size/body  homeostasis/metabolism  normal  skeleton 

    Find genes that share phenotypes with PAPPA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pappatm1Cac for PAPPA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PAPPA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PAPPA

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target PAPPA:
    hsa-mir-26b-5p (MIRT029988), hsa-mir-7-5p (MIRT025857)

    Block miRNA regulation of human, mouse, rat PAPPA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PAPPA (see all 160):
    hsa-miR-411* hsa-miR-1321 hsa-miR-4305 hsa-miR-128 hsa-miR-3653 hsa-miR-761 hsa-miR-3690 hsa-miR-34c-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PAPPA
    Predesigned siRNA for gene silencing in human, mouse, rat PAPPA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PAPPA

    Clone
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    OriGene clones in human, mouse for PAPPA (see all 8)
    OriGene ORF clones in mouse, rat for PAPPA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PAPPA (NM_002581)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAPPA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAPPA

    Cell Line
    Products:
         
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PAPPA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAPPA


    (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
    PAPP1_HUMAN, Q13219: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular5
    plasma membrane2
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0016020membrane IEA--

    Find genes that share ontologies with PAPPA           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 PAPPA About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    2Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
    Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)


    Find genes that share SuperPaths with PAPPA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PAPPA
        Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)


        Pathway & Disease-focused RT2 Profiler PCR Array including PAPPA: 
              Neurotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PAPPA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for PAPPA (Q132192, 3 ENSP000003306584) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3, ENSP000002621604MINT-60923 I2D: score=1 STRING: ENSP00000262160
    SMAD3P840222, 3, ENSP000003329734MINT-61704 I2D: score=1 STRING: ENSP00000332973
    ATF7IPQ6VMQ62, 3MINT-61911 I2D: score=1 
    SMAD9O151982, 3, ENSP000003691544MINT-62069 MINT-62089 I2D: score=3 STRING: ENSP00000369154
    SKILP127572, 3, ENSP000002591194MINT-61644 I2D: score=1 STRING: ENSP00000259119
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0007565female pregnancy NAS10077652
    GO:0030154cell differentiation IEA--
    GO:0032354response to follicle-stimulating hormone IEA--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with PAPPA           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 PAPPA (PAPP1)

    Selected Novoseek inferred chemical compound relationships for PAPPA gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oestriol 71.8 21 7530437 (2), 10416969 (2), 8624312 (2), 20440736 (1) (see all 9)
    aopp 47.4 6 14739577 (2), 15354943 (1), 17191033 (1)
    pentosidine 23.2 3 15208163 (2), 14605280 (1)
    progesterone 21.9 31 18402945 (4), 11750960 (4), 16055453 (4), 8473440 (3) (see all 11)
    glycosaminoglycan 21.3 9 17145752 (2), 15066178 (1), 7508748 (1), 17040968 (1)
    heparin 13.5 47 19101225 (7), 19325014 (5), 1721035 (3), 1694154 (3) (see all 8)
    actinomycin d 4.15 5 17274906 (1), 11897673 (1), 14657012 (1), 16338976 (1)
    serine 4.02 3 7586586 (2), 14988014 (1)
    tyrosine 2.5 3 12571229 (1), 16258339 (1), 20373592 (1)
    glucose 1.74 7 15208163 (2), 18362295 (2), 1693271 (1), 17229078 (1) (see all 5)



    Find genes that share compounds with PAPPA           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 PAPPA gene: 
    NM_002581.3  

    Unigene Cluster for PAPPA:

    Pregnancy-associated plasma protein A, pappalysin 1
    Hs.643599  [show with all ESTs]
    Unigene Representative Sequence: NM_002581
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000328252(uc011lxp.1 uc004bjn.3 uc011lxq.2) ENST00000460463
    ENST00000483254 ENST00000534838
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PAPPA (see all 160):
    hsa-miR-411* hsa-miR-1321 hsa-miR-4305 hsa-miR-128 hsa-miR-3653 hsa-miR-761 hsa-miR-3690 hsa-miR-34c-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PAPPA
    Clone
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    OriGene ORF clones in mouse, rat for PAPPA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PAPPA (NM_002581)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAPPA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAPPA
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAPPA
      QuantiTect SYBR Green Assays in human, mouse, rat PAPPA
      QuantiFast Probe-based Assays in human, mouse, rat PAPPA

    Additional mRNA sequence: 

    AJ420429.1 AJ420467.1 AK094182.1 AK300128.1 AK300129.1 AK308154.1 AY140907.1 AY302185.2 
    AY623010.1 BC029404.1 BC054010.1 BC057782.1 BC062657.1 BC078657.1 X68280.1 

    Selected DOTS entries (see all 62):

    DT.91861595  DT.100822197  DT.91811577  DT.100822192  DT.97813532  DT.449795  DT.95260887  DT.40116919 
    DT.121144171  DT.86995514  DT.119830  DT.92012680  DT.40281278  DT.95260886  DT.101964341  DT.100824983 
    DT.121144072  DT.121144182  DT.95260898  DT.91974823  DT.75136774  DT.121144237  DT.91771685  DT.95176951 

    Selected AceView cDNA sequences (see all 1048):

    BC029404 AA599478 AW044418 AU140831 AU140498 AI740530 BP336833 AU140188 
    BG012970 AU140385 AU140687 AU140953 AU140960 AU141016 BF990581 BF995457 
    BF107266 AA156601 AU140460 AU140810 AU140389 AU140472 AU140425 AU140431 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PAPPA (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
    SP1:                                                                    -                 -                                                     -               
    SP2:                                      -     -     -     -     -     -                 -                                                                     
    SP3:                                                                                      -                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26
    SP1:  -                     
    SP2:                        
    SP3:                        
    SP4:  -                     
    SP5:                        


    ECgene alternative splicing isoforms for PAPPA

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


    PAPPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Mesoderm-like cells
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cushion Mesenchymal Cells Endocardium
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Somite (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
    PAPPA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAPPA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643599

    UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219
    Tissue specificity: High levels in placenta and pregnancy serum. In placenta, expressed in X cells in septa and
    anchoring villi, and in syncytiotrophoblasts in the chorionic villi. Lower levels are found in a variety of other
    tissues including kidney, myometrium, endometrium, ovaries, breast, prostate, bone marrow, colon, fibroblasts and
    osteoblasts

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PAPPA gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pappa1 , 5 pregnancy-associated plasma protein A1, 5 88.75(n)1
    91.44(a)1
      4 (34.14 cM)5
    184911  NM_021362.11  NP_067337.11 
     651241745 
    chicken
    (Gallus gallus)
    Aves PAPPA1 pregnancy-associated plasma protein A, pappalysin 1 78.05(n)
    79.08(a)
      417245  XM_415522.4  XP_415522.3 
    lizard
    (Anolis carolinensis)
    Reptilia PAPPA6
    pregnancy-associated plasma protein A, pappalysin ...
    71(a)
    1 ↔ 1
    GL343494.1(467334-630157)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pappa1 pregnancy-associated plasma protein A, pappalysin 1 69.28(n)
    68.76(a)
      100495014  XM_002935204.2  XP_002935250.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.171492 Transcribed sequence with weak similarity to protein more 75.98(n)    BM102714.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PAPPA gene
    PAPPA22  
    1 SIMAP similar gene for PAPPA using alignment to 3 protein entries:     PAPP1_HUMAN (see all proteins):
    PAPPA2

    Find genes that share paralogs with PAPPA           About GenesLikeMe



    (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 PAPPA (see all 4837)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs748744111,2
    F--118914116(+) CCACAA/CCTGAA 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1831477981,2
    --118914131(+) ATCAGC/TAGTCA 1 -- us2k10--------
    rs1869783101,2
    --118914538(+) CATCCA/GACAAA 1 -- us2k10--------
    rs1396744591,2
    --118914598(+) GAAGCA/GTGTAG 1 -- us2k10--------
    rs1914766331,2
    --118914611(+) ATGTTC/TCTAGC 1 -- us2k10--------
    rs1497779961,2
    C--118914642(+) AGCTCA/GGAAGA 1 -- us2k10--------
    rs1463114861,2
    --118914784(+) ATAGCG/TTGTAA 1 -- us2k10--------
    rs1393964501,2
    --118914845(+) AGAAGA/GTCTGT 1 -- us2k10--------
    rs1834730611,2
    --118915147(+) ACAGCG/TTCTGA 1 -- us2k10--------
    rs1893616761,2
    --118915285(+) CATCGC/TACAAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PAPPA (118916071 - 119164601 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PAPPA (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738975CNV Deletion23290073
    esv2047171CNV Deletion18987734
    esv2677393CNV Deletion23128226
    esv2738972CNV Deletion23290073
    esv2661287CNV Deletion23128226
    esv1223240CNV Deletion17803354
    esv2738974CNV Deletion23290073
    nsv825064CNV Loss20364138
    nsv825063CNV Gain20364138
    nsv893773CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 176385    OMIM disorders: --

    6 diseases for PAPPA:    
    About MalaCards
    limb-girdle muscular dystrophy type 2h    tricuspid valve insufficiency    triploidy    twin-to-twin transfusion syndrome
    edwards syndrome    patau syndrome

    10 diseases from the University of Copenhagen DISEASES database for PAPPA:
    Down syndrome     Edwards syndrome     Patau syndrome     pre-eclampsia
    Tricuspid valve insufficiency     Coronary heart disease     Turner syndrome     Placental abruption
    Myocardial infarction     twin-to-twin transfusion syndrome

    Find genes that share disorders with PAPPA           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PAPPA gene (see all 47)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 93.3 277 16388509 (6), 7508624 (5), 18432600 (5), 9746387 (4) (see all 99)
    trisomy 80.9 86 10416969 (6), 7528054 (5), 15906423 (4), 7526305 (3) (see all 33)
    edwards syndrome 74.7 1 10360515 (1)
    chromosomal aberrations 71.5 35 10820406 (3), 17278174 (2), 8863700 (2), 20088400 (2) (see all 25)
    preeclampsia 70.1 80 18000943 (6), 12648442 (5), 19215554 (5), 16493628 (5) (see all 26)
    pregnancy complications 65.2 9 11028579 (3), 16086443 (2), 11038455 (1), 14663836 (1) (see all 5)
    turners syndrome 60.1 5 10820406 (2), 19031473 (1), 16238533 (1), 19776597 (1)
    stillbirth 56.3 16 16952214 (2), 19672838 (2), 15536112 (2), 14712947 (2) (see all 8)
    preterm delivery 55.5 30 9516016 (4), 17962103 (3), 17992705 (3), 16219520 (3) (see all 15)
    miscarriage 55 16 15305104 (3), 12224070 (3), 11028579 (2), 15533385 (1) (see all 9)

    Genetic Association Database (GAD): PAPPA
    Human Genome Epidemiology (HuGE) Navigator: PAPPA (9 documents)

    Export disorders for PAPPA 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)
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    PubMed articles for PAPPA gene, integrated from 10 sources (see all 560):
    (articles sorted by number of sources associating them with PAPPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of pregnancy-associated plasma protein-A and colocalization of pregnancy-associated plasma protein-A messenger ribonucleic acid and eosinophil granule major basic protein messenger ribonucleic acid in placenta. (PubMed id 7526035)1, 2, 9 Bonno M.... Gleich G.J. (Lab. Invest. 1994)
    2. Pregnancy-associated plasma protein-A (PAPP-A) cleaves insulin-like growth factor binding protein (IGFBP)-5 independent of IGF: implications for the mechanism of IGFBP-4 proteolysis by PAPP-A. (PubMed id 11522292)1, 2, 9 Laursen L.S.... Oxvig C. (FEBS Lett. 2001)
    3. Expression of recombinant human pregnancy-associated plasma protein-A and identification of the proform of eosinophil major basic protein as its physiological inhibitor. (PubMed id 10913121)1, 2, 9 Overgaard M.T....Oxvig C. (J. Biol. Chem. 2000)
    4. Complex of pregnancy-associated plasma protein-A and the proform of eosinophil major basic protein. Disulfide structure and carbohydrate attachment sites. (PubMed id 12421832)1, 2, 9 Overgaard M.T.... Oxvig C. (J. Biol. Chem. 2003)
    5. Amino acid sequence of human pregnancy-associated plasma protein-A derived from cloned cDNA. (PubMed id 7508748)1, 2, 9 Kristensen T.... Sottrup-Jensen L. (Biochemistry 1994)
    6. Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes. (PubMed id 7679961)1, 3, 9 Silahtaroglu A.N....Tommerup N. (Cytogenet. Cell Genet. 1993)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage. (PubMed id 20716560)1, 4 Hanna C.W....Robinson W.P. (Hum. Reprod. 2010)
    9. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PubMed id 20583170)1, 4 Letra A....Vieira A.R. (Am. J. Med. Genet. A 2010)
    10. Identification of ten loci associated with height highlights new biological pathways in human growth. (PubMed id 18391950)1, 4 Lettre G.... Hirschhorn J.N. (Nat. Genet. 2008)

    (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)
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    Entrez Gene: 5069 HGNC: 8602 AceView: PAPPA Ensembl:ENSG00000182752 euGenes: HUgn5069
    ECgene: PAPPA H-InvDB: PAPPA

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for PAPPA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAPPA Genetics and Cytogenetics in Oncology and Haematology

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

    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, antibodies-online, 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
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