Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PAPPA Gene

Aliases for PAPPA Gene

  • Pappalysin 1 2 3
  • Pregnancy-Associated Plasma Protein A, Pappalysin 1 2 3 5
  • Insulin-Like Growth Factor-Dependent IGF Binding Protein-4 Protease 2 3
  • Insulin-Like Growth Factor-Dependent IGF-Binding Protein 4 Protease 3 4
  • Differentially Placenta 1 Expressed Protein 2 3
  • Aspecific BCL2 ARE-Binding Protein 2 2 3
  • IGF-Dependent IGFBP-4 Protease 3 4
  • IGFBP-4ase 3 4
  • PAPP-A 3 4
  • Pregnancy-Associated Plasma Protein A 4
  • Pregnacy-Associated Plasma Protein A 3
  • EC 3.4.24.79 4
  • ASBABP2 3
  • DIPLA1 3
  • PAPPA1 3
  • PAPA 3

External Ids for PAPPA Gene

Previous GeneCards Identifiers for PAPPA Gene

  • GC09P109744
  • GC09P110677
  • GC09P112369
  • GC09P114292
  • GC09P115995
  • GC09P117955
  • GC09P118916

Summaries for PAPPA Gene

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 (Pappalysin 1) is a Protein Coding gene. Diseases associated with PAPPA include orofaciodigital syndrome viii and down syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). GO annotations related to this gene include metalloendopeptidase activity and endopeptidase activity. An important paralog of this gene is PAPPA2.

UniProtKB/Swiss-Prot for PAPPA Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAPPA Gene

Genomics for PAPPA Gene

Regulatory Elements for PAPPA Gene

Enhancers for PAPPA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PAPPA on UCSC Golden Path with GeneCards custom track

Promoters for PAPPA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PAPPA on UCSC Golden Path with GeneCards custom track

Genomic Location for PAPPA Gene

Chromosome:
9
Start:
116,153,792 bp from pter
End:
116,402,322 bp from pter
Size:
248,531 bases
Orientation:
Plus strand

Genomic View for PAPPA Gene

Genes around PAPPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAPPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAPPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAPPA Gene

Proteins for PAPPA Gene

  • Protein details for PAPPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13219-PAPP1_HUMAN
    Recommended name:
    Pappalysin-1
    Protein Accession:
    Q13219
    Secondary Accessions:
    • B1AMF9
    • Q08371
    • Q68G52
    • Q9UDK7

    Protein attributes for PAPPA Gene

    Size:
    1627 amino acids
    Molecular mass:
    180973 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer; disulfide-linked. In pregnancy serum, predominantly found as a disulfide-linked 2:2 heterotetramer with the proform of PRG2.
    SequenceCaution:
    • Sequence=AAC50543.1; Type=Frameshift; Positions=51, 67; Evidence={ECO:0000305};

neXtProt entry for PAPPA Gene

Proteomics data for PAPPA Gene at MOPED

Post-translational modifications for PAPPA Gene

  • There appear to be no free sulfhydryl groups.
  • Glycosylation at Asn 390, Asn 402, Asn 429, Asn 480, Asn 601, Asn 619, Asn 725, Asn 825, Asn 1026, Asn 1222, Asn 1226, Asn 1323, Asn 1465, and Asn 1519
  • Modification sites at PhosphoSitePlus

Other Protein References for PAPPA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PAPPA (Pappalysin-1/PAPP-A)

No data available for DME Specific Peptides for PAPPA Gene

Domains & Families for PAPPA Gene

Gene Families for PAPPA Gene

Graphical View of Domain Structure for InterPro Entry

Q13219

UniProtKB/Swiss-Prot:

PAPP1_HUMAN :
  • Contains 5 Sushi (CCP/SCR) domains.
  • Belongs to the peptidase M43B family.
Domain:
  • Contains 5 Sushi (CCP/SCR) domains.
Family:
  • Belongs to the peptidase M43B family.
genes like me logo Genes that share domains with PAPPA: view

Function for PAPPA Gene

Molecular function for PAPPA Gene

GENATLAS Biochemistry:
pregnancy-associated plasma protein A
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by complexation with the proform of PRG2.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By 8-bromoadenosine-3,5-phosphate.

Enzyme Numbers (IUBMB) for PAPPA Gene

Gene Ontology (GO) - Molecular Function for PAPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA,TAS --
genes like me logo Genes that share ontologies with PAPPA: view
genes like me logo Genes that share phenotypes with PAPPA: view

Animal Models for PAPPA Gene

MGI Knock Outs for PAPPA:

Animal Model Products

  • Taconic Biosciences Mouse Models for PAPPA

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PAPPA Gene

Localization for PAPPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAPPA Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAPPA Gene COMPARTMENTS Subcellular localization image for PAPPA gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
cytoskeleton 1
lysosome 1
nucleus 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for PAPPA Gene

Pathways & Interactions for PAPPA Gene

genes like me logo Genes that share pathways with PAPPA: view

Gene Ontology (GO) - Biological Process for PAPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007565 female pregnancy NAS 10077652
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with PAPPA: view

No data available for SIGNOR curated interactions for PAPPA Gene

Drugs & Compounds for PAPPA Gene

(12) Drugs for PAPPA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(18) Additional Compounds for PAPPA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PAPPA: view

Transcripts for PAPPA Gene

Unigene Clusters for PAPPA Gene

Pregnancy-associated plasma protein A, pappalysin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PAPPA Gene

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:
SP6:
SP7: -
SP8: -
SP9:

ExUns: 23 ^ 24 ^ 25 ^ 26
SP1: -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for PAPPA Gene

GeneLoc Exon Structure for
PAPPA
ECgene alternative splicing isoforms for
PAPPA

Expression for PAPPA Gene

mRNA expression in normal human tissues for PAPPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PAPPA Gene

This gene is overexpressed in Placenta (45.3), Gallbladder (12.0), and Testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PAPPA Gene



SOURCE GeneReport for Unigene cluster for PAPPA Gene Hs.643599

mRNA Expression by UniProt/SwissProt for PAPPA Gene

Q13219-PAPP1_HUMAN
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.
genes like me logo Genes that share expression patterns with PAPPA: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for PAPPA Gene

Orthologs for PAPPA Gene

This gene was present in the common ancestor of chordates.

Orthologs for PAPPA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PAPPA 35
  • 89.23 (n)
  • 90.82 (a)
PAPPA 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAPPA 35
  • 89.57 (n)
  • 92.01 (a)
PAPPA 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pappa 35
  • 88.75 (n)
  • 91.44 (a)
Pappa 16
Pappa 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAPPA 35
  • 99.36 (n)
  • 99.2 (a)
PAPPA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pappa 35
  • 88.29 (n)
  • 91.18 (a)
oppossum
(Monodelphis domestica)
Mammalia PAPPA 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAPPA 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAPPA 35
  • 78.05 (n)
  • 79.08 (a)
PAPPA 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAPPA 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pappa 35
  • 69.28 (n)
  • 68.76 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.17149 35
pappab 35
  • 63.94 (n)
  • 61.86 (a)
pappaa 36
  • 59 (a)
OneToMany
pappab 36
  • 59 (a)
OneToMany
Species with no ortholog for PAPPA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PAPPA Gene

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

Paralogs for PAPPA Gene

Paralogs for PAPPA Gene

(1) SIMAP similar genes for PAPPA Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PAPPA: view

Variants for PAPPA Gene

Sequence variations from dbSNP and Humsavar for PAPPA Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs717963 -- 116,173,212(+) AAAGC(A/G)TTTTT intron-variant
rs719398 -- 116,159,409(-) TCCCC(A/C)GCAAC intron-variant
rs731146 -- 116,332,266(-) CACAT(G/T)GGGGT intron-variant
rs731147 -- 116,332,223(-) GGGCT(A/G)CTACT intron-variant
rs731148 -- 116,331,970(-) taaag(C/T)gtgta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PAPPA Gene

Variant ID Type Subtype PubMed ID
nsv7434 OTHER Inversion 18451855
nsv825063 CNV Gain 20364138
esv2677393 CNV Deletion 23128226
esv2738972 CNV Deletion 23290073
esv2661287 CNV Deletion 23128226
nsv825064 CNV Loss 20364138
esv2738974 CNV Deletion 23290073
esv2047171 CNV Deletion 18987734
esv2738975 CNV Deletion 23290073
esv1223240 CNV Deletion 17803354
nsv893773 CNV Gain 21882294

Variation tolerance for PAPPA Gene

Residual Variation Intolerance Score: 15.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.27; 62.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAPPA Gene

HapMap Linkage Disequilibrium report
PAPPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAPPA Gene

Disorders for PAPPA Gene

MalaCards: The human disease database

(12) MalaCards diseases for PAPPA Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
orofaciodigital syndrome viii
  • edwards syndrome
down syndrome
  • complete trisomy 21 syndrome
pre-eclampsia
  • preeclampsia
gestational diabetes
  • gdm
tricuspid valve insufficiency
  • tricuspid incompetence
- elite association - COSMIC cancer census association via MalaCards
Search PAPPA in MalaCards View complete list of genes associated with diseases

Relevant External Links for PAPPA

Genetic Association Database (GAD)
PAPPA
Human Genome Epidemiology (HuGE) Navigator
PAPPA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAPPA
genes like me logo Genes that share disorders with PAPPA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAPPA Gene

Publications for PAPPA Gene

  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. (PMID: 7526035) Bonno M. … Gleich G.J. (Lab. Invest. 1994) 3 4 23 67
  2. Association of first-trimester low PAPP-A levels with preterm birth. (PMID: 20087924) Goetzinger K.R. … Odibo A.O. (Prenat. Diagn. 2010) 3 23
  3. Pregnancy-associated plasma protein-A as a marker for long-term mortality in patients with peripheral atherosclerosis: inconclusive findings from the Linz Peripheral Arterial Disease (LIPAD) study. (PMID: 20148724) Mueller T. … Haltmayer M. (Clin. Chem. Lab. Med. 2010) 3 23
  4. Pregnancy associated plasma protein A, a potential marker for vulnerable plaque in patients with non-ST-segment elevation acute coronary syndrome. (PMID: 19318028) Iversen K.K. … Grande P. (Clin. Biochem. 2009) 3 23
  5. Relationship between pregnancy-associated plasma protein-A and lung cancer. (PMID: 19365167) Bulut I. … Gulcan E. (Am. J. Med. Sci. 2009) 3 23

Products for PAPPA Gene

Sources for PAPPA Gene

Content