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

PAPPA Gene

protein-coding   GIFtS: 63
GCID: GC09P118916

pregnancy-associated plasma protein A, pappalysin 1
 Explore 55 diseases affiliated with
PAPPA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PAPPA    

Aliases
for PAPPA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Pregnancy-Associated Plasma Protein A, Pappalysin 11 2     IGF-Dependent IGFBP-4 Protease2 3
IGFBP-4ase1 2 3     Aspecific BCL2 ARE-Binding Protein 22
PAPP-A1 2 3     Differentially Placenta 1 Expressed Protein2
ASBABP21 2     Insulin-Like Growth Factor-Dependent IGF Binding Protein-4 Protease2
DIPLA11 2     Pappalysin-11
PAPA1 2     Pregnacy-Associated Plasma Protein A2
PAPPA11 2     EC 3.4.24.793
Insulin-Like Growth Factor-Dependent IGF-Binding Protein 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


Summaries
for PAPPA gene

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

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)


Genomic Views
for PAPPA 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PAPPA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PAPPA gene

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

Post-translational modifications:

  • There appear to be no free sulfhydryl groups1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13219

    • PAPPA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002572.2  
    ENSEMBL proteins: 
     ENSP00000330658   ENSP00000441461  
    Reactome Protein details: Q13219
    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 Protein Services for PAPPA 
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    Novus Biologicals PAPPA Proteins
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for PAPPA
    Uscn Proteins for PAPPA

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    PAPPA for ontologies           About GeneDecksing



    PAPPA Antibody Products: 
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    OriGene Custom Antibody Services for PAPPA 
    GenScript Custom Superior Antibodies Services for PAPPA
    Novus Biologicals PAPPA Antibodies
    Search for Antibodies for PAPPA at Abcam  
    Uscn Antibodies for PAPPA
    ThermoFisher Antibodies for PAPPA

    Assay Products for PAPPA: 
    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
    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
    Uscn ELISAs and CLIAs for PAPPA

    Protein Domains /
    Families
    for PAPPA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PAPPA for domains           About GeneDecksing

    5/8 InterPro domains/families (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 family: 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


    Function
    for PAPPA gene

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

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: PAPPA
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAPPA
    8/160 QIAGEN miScript miRNA 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:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAPPA (see all 7)
    OriGene shRNA RFP: PAPPA
    OriGene siRNA: PAPPA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAPPA

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PAPPA (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PAPPA (see all 2)
    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:             		GenScript Custom overexpressing Cell Line Services for PAPPA
    Search LifeMap BioReagents cell lines for PAPPA

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAPPA

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity IEA--
    GO:0008237metallopeptidase activity NAS10913121
    GO:0008270zinc ion binding NAS10077652


    PAPPA for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PAPPA:
     Bright nuclei 

    Animal Models:
         Mouse knock-out Pappatm1Cac for PAPPA
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pappa):
     growth/size  skeleton 

    PAPPA for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PAPPA gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation 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)1.00
    2Asparagine N-linked glycosylation
    		Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2        Reactome Pathways for PAPPA
        Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
    Metabolism of proteins



    PAPPA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAPPA

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

    5/19 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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0007565female pregnancy NAS10077652
    GO:0030154cell differentiation IEA--
    GO:0032354response to follicle-stimulating hormone stimulus IEA--
    GO:0051384response to glucocorticoid stimulus IEA--


    PAPPA for ontologies           About GeneDecksing



    Drugs & Compounds
    for PAPPA gene

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

    PAPPA for compounds           About GeneDecksing

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

    Browse Tocris compounds for PAPPA
    10/30 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about PAPPA / PAPP1 

    Transcripts
    for PAPPA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
    Products:             		 OriGene 3'-UTR Clone: PAPPA
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAPPA
    8/160 QIAGEN miScript miRNA 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:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAPPA (see all 7)
    OriGene shRNA RFP: PAPPA
    OriGene siRNA: PAPPA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAPPA
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PAPPA (see all 3)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PAPPA (NM_002581)
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    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PAPPA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PAPPA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PAPPA

    Additional cDNA 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 

    24/49 DOTS entries (see all 49):

    DT.91861595  DT.91811577  DT.100822197  DT.95260887  DT.100822192  DT.97813532  DT.40116919  DT.121144171 
    DT.449795  DT.40281278  DT.95260886  DT.92012680  DT.100824983  DT.121144072  DT.101964341  DT.121144182 
    DT.95260898  DT.91974823  DT.75136774  DT.121144237  DT.95176951  DT.95155754  DT.95260885  DT.91777115 

    24/1048 AceView cDNA sequences (see all 1048):

    AU140345 AU140531 AU140935 AU140414 AU140714 AU140381 AU141017 AU140651 
    BF109378 BG012954 AA708613 AU140190 AW193364 AU140413 BG006843 BF995457 
    AU140385 AU140183 H62263 BG619828 AA369734 AU140425 AU140978 AU140472 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for PAPPA 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PAPPA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATTTGTTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PAPPA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEndocardiumCushion Mesenchymal CellsEndocardium
    HeartEndocardiumEndocardial Tube CellsEndocardium
    OvaryPrimary FollicleGranulosa CellsOvary
    SomiteThoracic Ventrolateral Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    CartilageLumbar Intervertebral DiscCartilage
    HeartRight VentricleHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    CD31, CD144 positive cells (Two-step protocol fo...)
    Podocalyxin+, CD24+, GCTM2 (low) (Derivation and sorti...)

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

    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

        SABiosciences Expression via Pathway-Focused PCR Array including PAPPA: 
              Neurotoxicity in human mouse rat

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    Orthologs
    for PAPPA 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
    This gene was present in the common ancestor of chordates.

    Orthologs for PAPPA gene from 4/13 species (see all 13)    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(n)
    79.08(a)    		   417245  XM_415522.3  XP_415522.3 
    lizard
    (Anolis carolinensis)    		 Reptilia PAPPA6
    --
    		 --
    		 72(a)
    63(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343494.1(467348-630052)
    GL344616.1(76-24178)
    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
    for PAPPA gene

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

    PAPPA for paralogs           About GeneDecksing



    Genomic Variants
    for PAPPA gene

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

    10/4104 NCBI SNPs in PAPPA are shown (see all 4104)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs748744111,2
    		--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
    		--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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PAPPA
         1 Indel: 47636

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    Disorders / Diseases
    for PAPPA 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
    PAPPA for disorders           About GeneDecksing

    OMIM gene information: 176385    OMIM disorders: --

    20/55 diseases for PAPPA (see all 55):    About MalaCards
    limb-girdle muscular dystrophy type 2h    limb-girdle muscular dystrophy    cornelia de lange syndrome    twin-to-twin transfusion syndrome
    twin twin transfusion syndrome    cleft lip/palate    pre-eclampsia    myocardial infarction
    placental abruption    acute myocardial infarction    muscular dystrophy    cleft lip
    edwards syndrome    intermediate coronary syndrome    ectopic pregnancy    type 2 diabetes mellitus
    coronary heart disease    placental insufficiency    triploidy    spontaneous abortion

    9 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

    10/47 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PAPPA (9 documents)

    Export disorders for PAPPA gene to outside databases

    Publications
    for PAPPA 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

    PubMed articles for PAPPA gene, integrated from 9 sources (see all 542):
    (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. (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. (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. (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. (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. (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. (1993)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. (PubMed id 11822024)1, 2 Frosk P.... Wrogemann K. (2002)
    9. The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A. (PubMed id 10077652)1, 2 Lawrence J.B.... Conover C.A. (1999)
    10. Messenger ribonucleic acid levels of pregnancy-associated plasma protein-A and the proform of eosinophil major basic protein: expression in human reproductive and nonreproductive tissues. (PubMed id 10491647)1, 2 Overgaard M.T.... Haaning J. (1999)

    External Searches for PAPPA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PAPPA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5069 HGNC: 8602 AceView: PAPPA Ensembl:ENSG00000182752 euGenes: HUgn5069
    ECgene: PAPPA H-InvDB: PAPPA

    Other Databases showing PAPPA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PAPPA gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PAPPA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PAPPA Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for PAPPA gene

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



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