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Aliases & Descriptions for PAPPA
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ASBABP2 1, 2 | | DIPLA1 1, 2 | | EC 3.4.24.79 3 | | IGFBP-4ase 1, 2, 3 | | OTTHUMP00000022806 2 | | PAPA 1, 2 | | PAPP-A 1, 2, 3 | | PAPPA1 1, 2 |
| | | Descriptions |
|---|
| IGF-dependent IGFBP-4 protease 3 | Insulin-like growth factor-dependent IGF-binding protein 4 protease 3 | | Pregnancy-associated plasma protein A 2, 3 | | aspecific BCL2 ARE-binding protein 2 2 | | differentially placenta 1 expressed protein 2 | insulin-like growth factor-dependent IGF binding protein-4 protease 2 | | pregnacy-associated plasma protein A 2 | | pregnancy-associated plasma protein A, pappalysin 1 2 |
|
| | Search outside databases for aliases for PAPPA genePrevious GC identifers: GC09P109744 GC09P110677 GC09P112369 GC09P114292 GC09P115995 |
Summaries for PAPPA(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219Function: 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 IGFGene Wiki entry for PAPPA (Pregnancy-associated_plasma_protein_A) |
Genomic Location for PAPPA
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the PAPPA gene 
Entrez Gene cytogenetic band: 9q33.2 Ensembl cytogenetic band: 9q33.1 HGNC cytogenetic band: 9q33.1PAPPA Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P117955:
(about GC identifiers)
Start:
|
117,955,892 bp from pter |
End:
|
118,204,421 bp from pter |
Size:
|
248,530 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000009.10 NT_008470.18
| Proteins for PAPPA
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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 Q9UDK7Post-translational modifications:
There appear to be no free sulfhydryl groups1
REFSEQ proteins: NP_002572.2
ENSEMBL proteins: ENSP00000330658
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for PAPPA: Assays for PAPPA: | Protein
Domains/ Families for PAPPA(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q13219Similarity: Belongs to the peptidase M43B familySimilarity: Contains 5 Sushi (CCP/SCR) domains | Gene Function for PAPPA
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002581
Applied Biosystems Silencer® siRNAs for PAPPA
Sigma-Aldrich siRNA and siRNA Panels for PAPPA  Sigma-Aldrich shRNA for PAPPA  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002581                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002581                                  untagged cDNA clones in CMV expression vector (see all 2): NM_002581 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002581
UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219Function: 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 IGFCatalytic 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-5Enzyme regulation: Inhibited by complexation with the proform of PRG2Induction: By 8-bromoadenosine-3',5'-phosphateEnzyme Number (IUBMB): EC 3.4.24.79 Genatlas biochemistry entry for PAPPA:pregnancy-associated plasma protein A2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Pappa):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for PAPPA
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for PAPPA (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for PAPPA 
5/21 Interacting proteins for PAPPA (ENSP000003306583 Q132192) via UniProtKB, MINT, and/or STRING (see all 21
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for PAPPA(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for PAPPA 10/20 Novoseek chemical compound relationships for PAPPA gene (see all 20
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| oestriol |
71.64 |
18 |
7530437 (2), 10416969 (2), 8624312 (2), 10416963 (1) (see all 8) |
| aopp |
50.92 |
6 |
14739577 (2), 15354943 (1), 17191033 (1) |
| pentosidine |
25.84 |
3 |
15208163 (2), 14605280 (1) |
| glycosaminoglycan |
24.19 |
9 |
17145752 (2), 15066178 (1), 7508748 (1), 17040968 (1) |
| progesterone |
22.74 |
31 |
18402945 (4), 11750960 (4), 16055453 (4), 8473440 (3) (see all 11) |
| glucose |
2.25 |
7 |
15208163 (2), 18362295 (2), 1693271 (1), 17229078 (1) (see all 5) |
| tyrosine |
1.67 |
2 |
12571229 (1), 16258339 (1) |
| lipid |
1.31 |
6 |
14661010 (2), 18362295 (2), 16706128 (1) |
| calcium |
1.09 |
6 |
17243917 (2), 18000148 (1), 15262980 (1) |
| estradiol |
0.00 |
6 |
15271447 (1) |
About this table
|
Transcripts for PAPPA(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002581
Sigma-Aldrich siRNA and siRNA Panels for PAPPA  Sigma-Aldrich shRNA for PAPPA  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_002581 REFSEQ mRNAs for PAPPA gene: NM_002581.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002581               OriGene GFP tagged cDNA clone in CMV expression vector: NM_002581                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002581                                  untagged cDNA clones in CMV expression vector (see all 2): NM_002581  Additional cDNA sequence: AK094182.1 AY623011.1 AY623012.1 CR597268.1 24/61 DOTS entries (see all 61
): DT.91861595 DT.100822197 DT.91811577 DT.100822192 DT.97813532 DT.449795 DT.95260887 DT.40116919 DT.121144171 DT.119830 DT.86995514 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 24/1048 AceView cDNA sequences (see all 1048
):BF992397 AU135944 BG012577 AU141023 AU140651 AA705356 AA595787 AU134784 AU140928 AA620683 AU141017 BF990581 AI057251 AU140334 AU140381 AI492481 AU140498 BU752032 BX640901 AU140460 AA368580 AI168453 AU140431 H40199
highest scoring ESTs for PAPPA:AA156838 AA148534 AA004267 AA004406 AA029105 AA043911 AA046219 AA082581 AA085579 AA088178 Unigene Clusters for PAPPA: Pregnancy-associated plasma protein A, pappalysin 1 Hs.643599 [show with all ESTs], Hs.713596 [show with all ESTs]Unigene Representative Sequences: NM_002581, AY623011
GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PAPPA (see all 9
)
| 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: | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for PAPPA
1 Ensembl transcript including schematic representation: ENST00000328252
|
Expression for PAPPA
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| PAPPA expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for PAPPA
1 / 2 / 3 21 probe-sets matching PAPPA gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GATTTGTTTT
SOURCE GeneReport for Unigene clusters: Hs.643599 Hs.713596
Expression variation in blood from EXPOLDB for PAPPA UniProtKB/Swiss-Prot: PAPP1_HUMAN, Q13219Tissue 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 |
Orthologs for PAPPA
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for PAPPA gene from 5/6 species (see all 6
)
About this table Species with no ortholog for PAPPA
ENSEMBL Gene Tree for PAPPA | Paralogs for PAPPA(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for PAPPA gene
- PAPPA22
|
SNPs/Variants for PAPPA(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for PAPPA (up to first 250kb)
|
Disorders & Mutations for PAPPA
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 176385
10/46 Novoseek disease relationships for PAPPA gene (see all 46
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| down syndrome |
93.05 |
253 |
16388509 (6), 7508624 (5), 18432600 (5), 9746387 (4) (see all 99) |
| trisomy |
80.07 |
79 |
10416969 (6), 7528054 (5), 15906423 (4), 7526305 (3) (see all 28) |
| edwards syndrome |
76.26 |
1 |
10360515 (1) |
| chromosomal aberrations |
70.71 |
30 |
10820406 (3), 17278174 (2), 8863700 (2), 17154335 (2) (see all 22) |
| pregnancy complications |
63.59 |
9 |
11028579 (3), 16086443 (2), 11038455 (1), 14663836 (1) (see all 5) |
| preeclampsia |
62.41 |
67 |
18000943 (6), 12648442 (5), 16493628 (5), 19215554 (5) (see all 17) |
| stillbirth |
56.28 |
12 |
16952214 (2), 14712947 (2), 15536112 (2), 16394054 (1) (see all 6) |
| spontaneous abortion |
55.25 |
16 |
15305104 (3), 12224070 (3), 11028579 (2), 15533385 (1) (see all 9) |
| turners syndrome |
53.83 |
4 |
10820406 (2), 19031473 (1), 16238533 (1) |
| preterm delivery |
47.50 |
26 |
9516016 (4), 17962103 (3), 16219520 (3), 17992705 (3) (see all 11) |
About this table
|
Medical News for PAPPA(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for PAPPA (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/447 PubMed articles for PAPPA gene (see all 447
):- 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, 3, 4 Bonno M.... Gleich G.J. (1994)
- 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, 3, 4 Laursen L.S.... Oxvig C. (2001)
- 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, 3, 4 Overgaard M.T....Oxvig C. (2000)
- 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, 3, 4 Overgaard M.T.... Oxvig C. (2003)
- Amino acid sequence of human pregnancy-associated plasma protein-A derived from cloned cDNA. (PubMed id 7508748)1, 3, 4 Kristensen T.... Sottrup-Jensen L. (1994)
- 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, 2, 3 Silahtaroglu A.N....Tommerup N. (1993)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. (PubMed id 11822024)3, 4 Frosk P.... Wrogemann K. (2002)
- 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)3, 4 Lawrence J.B.... Conover C.A. (1999)
- 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)3, 4 Overgaard M.T.... Haaning J. (1999)
|
Search for PAPPA
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing PAPPA
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing PAPPA
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PAPPA(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for PAPPA(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
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Incremental update: 13 Oct 2009
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