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PAPPA (pappalysin 1)

Identity

Alias_namespregnancy-associated plasma protein A
Alias_symbol (synonym)PAPP-A
PAPPA1
IGFBP-4ase
PAPA
ASBABP2
DIPLA1
Other alias
HGNC (Hugo) PAPPA
LocusID (NCBI) 5069
Atlas_Id 41637
Location 9q33.1  [Link to chromosome band 9q33]
Location_base_pair Starts at 116153792 and ends at 116402321 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ASPH (8q12.3) / PAPPA (9q33.1)CLK1 (2q33.1) / PAPPA (9q33.1)CSH1 (17q23.3) / PAPPA (9q33.1)
KIAA2026 (9p24.1) / PAPPA (9q33.1)LARP1 (5q33.2) / PAPPA (9q33.1)LMOD1 (1q32.1) / PAPPA (9q33.1)
LRP2 (2q31.1) / PAPPA (9q33.1)MIR205HG (1q32.2) / PAPPA (9q33.1)MIR3134 (9q31.3) / PAPPA (9q33.1)
NUP107 (12q15) / PAPPA (9q33.1)PAPPA (9q33.1) / DCAF7 (17q23.3)PAPPA (9q33.1) / DDX25 (11q24.2)
PAPPA (9q33.1) / DTWD2 (5q23.1)PAPPA (9q33.1) / EPAS1 (2p21)PAPPA (9q33.1) / INPP5A (10q26.3)
PAPPA (9q33.1) / LRP2 (2q31.1)PAPPA (9q33.1) / MEIS2 (15q14)PAPPA (9q33.1) / PAPPA (9q33.1)
PAPPA (9q33.1) / PSG3 (19q13.2)PAPPA (9q33.1) / RPGR (Xp11.4)PAPPA (9q33.1) / RPS24 (10q22.3)
PAPPA (9q33.1) / TNFRSF11A (18q21.33)RCN3 (19q13.33) / PAPPA (9q33.1)UNC13D (17q25.1) / PAPPA (9q33.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PAPPA   8602
Cards
Entrez_Gene (NCBI)PAPPA  5069  pappalysin 1
AliasesASBABP2; DIPLA1; IGFBP-4ase; PAPA; 
PAPP-A; PAPPA1
GeneCards (Weizmann)PAPPA
Ensembl hg19 (Hinxton)ENSG00000182752 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182752 [Gene_View]  chr9:116153792-116402321 [Contig_View]  PAPPA [Vega]
ICGC DataPortalENSG00000182752
TCGA cBioPortalPAPPA
AceView (NCBI)PAPPA
Genatlas (Paris)PAPPA
WikiGenes5069
SOURCE (Princeton)PAPPA
Genetics Home Reference (NIH)PAPPA
Genomic and cartography
GoldenPath hg38 (UCSC)PAPPA  -     chr9:116153792-116402321 +  9q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAPPA  -     9q33.1   [Description]    (hg19-Feb_2009)
EnsemblPAPPA - 9q33.1 [CytoView hg19]  PAPPA - 9q33.1 [CytoView hg38]
Mapping of homologs : NCBIPAPPA [Mapview hg19]  PAPPA [Mapview hg38]
OMIM176385   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_002581
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAPPA
Cluster EST : UnigeneHs.643599 [ NCBI ]
CGAP (NCI)Hs.643599
Alternative Splicing GalleryENSG00000182752
Gene ExpressionPAPPA [ NCBI-GEO ]   PAPPA [ EBI - ARRAY_EXPRESS ]   PAPPA [ SEEK ]   PAPPA [ MEM ]
Gene Expression Viewer (FireBrowse)PAPPA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5069
GTEX Portal (Tissue expression)PAPPA
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13219   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13219  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13219
Splice isoforms : SwissVarQ13219
Catalytic activity : Enzyme3.4.24.79 [ Enzyme-Expasy ]   3.4.24.793.4.24.79 [ IntEnz-EBI ]   3.4.24.79 [ BRENDA ]   3.4.24.79 [ KEGG ]   
PhosPhoSitePlusQ13219
Domaine pattern : Prosite (Expaxy)SUSHI (PS50923)    ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)ConA-like_dom    LamG-like    MetalloPept_cat_dom    Myxo_disulph_rpt    Notch_dom    PAPPA    Peptidase_M43    Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)Peptidase_M43 (PF05572)    Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam05572    pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  LamGL (SM00560)  NL (SM00004)  
Conserved Domain (NCBI)PAPPA
DMDM Disease mutations5069
Blocks (Seattle)PAPPA
SuperfamilyQ13219
Human Protein AtlasENSG00000182752
Peptide AtlasQ13219
HPRD01448
IPIIPI00001869   IPI00909728   IPI01015619   IPI00385303   IPI00329409   IPI00816191   
Protein Interaction databases
DIP (DOE-UCLA)Q13219
IntAct (EBI)Q13219
FunCoupENSG00000182752
BioGRIDPAPPA
STRING (EMBL)PAPPA
ZODIACPAPPA
Ontologies - Pathways
QuickGOQ13219
Ontology : AmiGOmetalloendopeptidase activity  metalloendopeptidase activity  extracellular region  extracellular region  extracellular region  extracellular space  proteolysis  female pregnancy  metallopeptidase activity  metallopeptidase activity  zinc ion binding  response to follicle-stimulating hormone  cellular protein metabolic process  response to glucocorticoid  
Ontology : EGO-EBImetalloendopeptidase activity  metalloendopeptidase activity  extracellular region  extracellular region  extracellular region  extracellular space  proteolysis  female pregnancy  metallopeptidase activity  metallopeptidase activity  zinc ion binding  response to follicle-stimulating hormone  cellular protein metabolic process  response to glucocorticoid  
NDEx NetworkPAPPA
Atlas of Cancer Signalling NetworkPAPPA
Wikipedia pathwaysPAPPA
Orthology - Evolution
OrthoDB5069
GeneTree (enSembl)ENSG00000182752
Phylogenetic Trees/Animal Genes : TreeFamPAPPA
HOVERGENQ13219
HOGENOMQ13219
Homologs : HomoloGenePAPPA
Homology/Alignments : Family Browser (UCSC)PAPPA
Gene fusions - Rearrangements
Fusion : MitelmanNUP107/PAPPA [12q15/9q33.1]  [t(9;12)(q33;q15)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAPPA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAPPA
dbVarPAPPA
ClinVarPAPPA
1000_GenomesPAPPA 
Exome Variant ServerPAPPA
ExAC (Exome Aggregation Consortium)PAPPA (select the gene name)
Genetic variants : HAPMAP5069
Genomic Variants (DGV)PAPPA [DGVbeta]
DECIPHERPAPPA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAPPA 
Mutations
ICGC Data PortalPAPPA 
TCGA Data PortalPAPPA 
Broad Tumor PortalPAPPA
OASIS PortalPAPPA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAPPA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAPPA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PAPPA
DgiDB (Drug Gene Interaction Database)PAPPA
DoCM (Curated mutations)PAPPA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAPPA (select a term)
intoGenPAPPA
Cancer3DPAPPA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176385   
Orphanet
MedgenPAPPA
Genetic Testing Registry PAPPA
NextProtQ13219 [Medical]
TSGene5069
GENETestsPAPPA
Target ValidationPAPPA
Huge Navigator PAPPA [HugePedia]
snp3D : Map Gene to Disease5069
BioCentury BCIQPAPPA
ClinGenPAPPA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5069
Chemical/Pharm GKB GenePA32935
Clinical trialPAPPA
Miscellaneous
canSAR (ICR)PAPPA (select the gene name)
Probes
Litterature
PubMed213 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAPPA
EVEXPAPPA
GoPubMedPAPPA
iHOPPAPPA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:02:38 CEST 2017

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