Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 5069
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol PAPPA   Gene   UCSC   Ensembl
Aliases ASBABP2, DIPLA1, IGFBP-4ase, PAPA, PAPP-A, PAPPA1
Gene name pappalysin 1
Alternate names pappalysin-1, IGF-dependent IGFBP-4 protease, aspecific BCL2 ARE-binding protein 2, differentially placenta 1 expressed protein, insulin-like growth factor-dependent IGF binding protein-4 protease, pregnacy-associated plasma protein A, pregnancy-associated plas,
Gene location 9q33.1 (116153751: 116402320)     Exons: 22     NC_000009.12
Gene summary(Entrez) 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]
OMIM 176385

Protein Summary
Protein general information Q13219  

Name: Pappalysin 1 (EC 3.4.24.79) (Insulin like growth factor dependent IGF binding protein 4 protease) (IGF dependent IGFBP 4 protease) (IGFBP 4ase) (Pregnancy associated plasma protein A) (PAPP A)

Length: 1627  Mass: 180,973

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, myo

Sequence MRLWSWVLHLGLLSAALGCGLAERPRRARRDPRAGRPPRPAAGPATCATRAARGRRASPPPPPPPGGAWEAVRVP
RRRQQREARGATEEPSPPSRALYFSGRGEQLRLRADLELPRDAFTLQVWLRAEGGQRSPAVITGLYDKCSYISRD
RGWVVGIHTISDQDNKDPRYFFSLKTDRARQVTTINAHRSYLPGQWVYLAATYDGQFMKLYVNGAQVATSGEQVG
GIFSPLTQKCKVLMLGGSALNHNYRGYIEHFSLWKVARTQREILSDMETHGAHTALPQLLLQENWDNVKHAWSPM
KDGSSPKVEFSNAHGFLLDTSLEPPLCGQTLCDNTEVIASYNQLSSFRQPKVVRYRVVNLYEDDHKNPTVTREQV
DFQHHQLAEAFKQYNISWELDVLEVSNSSLRRRLILANCDISKIGDENCDPECNHTLTGHDGGDCRHLRHPAFVK
KQHNGVCDMDCNYERFNFDGGECCDPEITNVTQTCFDPDSPHRAYLDVNELKNILKLDGSTHLNIFFAKSSEEEL
AGVATWPWDKEALMHLGGIVLNPSFYGMPGHTHTMIHEIGHSLGLYHVFRGISEIQSCSDPCMETEPSFETGDLC
NDTNPAPKHKSCGDPGPGNDTCGFHSFFNTPYNNFMSYADDDCTDSFTPNQVARMHCYLDLVYQGWQPSRKPAPV
ALAPQVLGHTTDSVTLEWFPPIDGHFFERELGSACHLCLEGRILVQYASNASSPMPCSPSGHWSPREAEGHPDVE
QPCKSSVRTWSPNSAVNPHTVPPACPEPQGCYLELEFLYPLVPESLTIWVTFVSTDWDSSGAVNDIKLLAVSGKN
ISLGPQNVFCDVPLTIRLWDVGEEVYGIQIYTLDEHLEIDAAMLTSTADTPLCLQCKPLKYKVVRDPPLQMDVAS
ILHLNRKFVDMDLNLGSVYQYWVITISGTEESEPSPAVTYIHGSGYCGDGIIQKDQGEQCDDMNKINGDGCSLFC
RQEVSFNCIDEPSRCYFHDGDGVCEEFEQKTSIKDCGVYTPQGFLDQWASNASVSHQDQQCPGWVIIGQPAASQV
CRTKVIDLSEGISQHAWYPCTISYPYSQLAQTTFWLRAYFSQPMVAAAVIVHLVTDGTYYGDQKQETISVQLLDT
KDQSHDLGLHVLSCRNNPLIIPVVHDLSQPFYHSQAVRVSFSSPLVAISGVALRSFDNFDPVTLSSCQRGETYSP
AEQSCVHFACEKTDCPELAVENASLNCSSSDRYHGAQCTVSCRTGYVLQIRRDDELIKSQTGPSVTVTCTEGKWN
KQVACEPVDCSIPDHHQVYAASFSCPEGTTFGSQCSFQCRHPAQLKGNNSLLTCMEDGLWSFPEALCELMCLAPP
PVPNADLQTARCRENKHKVGSFCKYKCKPGYHVPGSSRKSKKRAFKTQCTQDGSWQEGACVPVTCDPPPPKFHGL
YQCTNGFQFNSECRIKCEDSDASQGLGSNVIHCRKDGTWNGSFHVCQEMQGQCSVPNELNSNLKLQCPDGYAIGS
ECATSCLDHNSESIILPMNVTVRDIPHWLNPTRVERVVCTAGLKWYPHPALIHCVKGCEPFMGDNYCDAINNRAF
CNYDGGDCCTSTVKTKKVTPFPMSCDLQGDCACRDPQAQEHSRKDLRGYSHG
Structural information
Protein Domains
 Sushi (1213-1282)
Sushi (1283-1344)
Sushi (1345-1412)
Sushi (1413-1473)
Interpro:  IPR013320 IPR013783 IPR006558 IPR024079 IPR011936 IPR000800 IPR030433 IPR008754 IPR000436
Prosite:   PS50923 PS00142

Pfam:  		 PF05572 PF00084
CDD:   cd00033 cd04275
MINT:   1193478
STRING:   ENSP00000330658;
Other Databases GeneCards:  PAPPA;  Malacards:  PAPPA

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004222 metalloendopeptidase acti
vity
 EXP molecular_function
GO:0004222 metalloendopeptidase acti
vity
 TAS molecular_function
GO:0005576 extracellular region
 IDA cellular_component
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0006508 proteolysis
 IEA biological_process
GO:0007565 female pregnancy
 NAS biological_process
GO:0007565 female pregnancy
 NAS biological_process
GO:0008237 metallopeptidase activity
 IDA molecular_function
GO:0008237 metallopeptidase activity
 NAS molecular_function
GO:0008270 zinc ion binding
 NAS molecular_function
GO:0008270 zinc ion binding
 NAS molecular_function
GO:0044267 cellular protein metaboli
c process
 TAS biological_process
GO:0004175 endopeptidase activity
 IEA molecular_function
GO:0004222 metalloendopeptidase acti
vity
 IEA molecular_function
GO:0004222 metalloendopeptidase acti
vity
 EXP molecular_function
GO:0004222 metalloendopeptidase acti
vity
 TAS molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IDA cellular_component
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0006508 proteolysis
 IEA biological_process
GO:0006508 proteolysis
 IEA biological_process
GO:0007565 female pregnancy
 NAS biological_process
GO:0007565 female pregnancy
 NAS biological_process
GO:0007565 female pregnancy
 TAS biological_process
GO:0008233 peptidase activity
 IEA molecular_function
GO:0008237 metallopeptidase activity
 IEA molecular_function
GO:0008237 metallopeptidase activity
 IEA molecular_function
GO:0008237 metallopeptidase activity
 IDA molecular_function
GO:0008237 metallopeptidase activity
 NAS molecular_function
GO:0008270 zinc ion binding
 NAS molecular_function
GO:0008270 zinc ion binding
 NAS molecular_function
GO:0008270 zinc ion binding
 TAS molecular_function
GO:0016787 hydrolase activity
 IEA molecular_function
GO:0044267 cellular protein metaboli
c process
 TAS biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0004222 metalloendopeptidase acti
vity
 EXP molecular_function
GO:0004222 metalloendopeptidase acti
vity
 TAS molecular_function
GO:0005576 extracellular region
 IDA cellular_component
GO:0005576 extracellular region
 NAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0007565 female pregnancy
 NAS biological_process
GO:0007565 female pregnancy
 NAS biological_process
GO:0007565 female pregnancy
 TAS biological_process
GO:0008237 metallopeptidase activity
 IDA molecular_function
GO:0008237 metallopeptidase activity
 NAS molecular_function
GO:0008270 zinc ion binding
 NAS molecular_function
GO:0008270 zinc ion binding
 NAS molecular_function
GO:0008270 zinc ion binding
 TAS molecular_function
GO:0044267 cellular protein metaboli
c process
 TAS biological_process

Diseases

Associated diseases References
Embryo development PMID: 17070193
Endometrial cancer PMID: 24171308
Endometriosis PMID: 15985492
Female infertility PMID: 19342032
Follicular development PMID: 26297643
Poor ovarian response INFBASE21474127
Endometriosis INFBASE12765344
Oocyte maturation PMID: 17070193
Ovarian hyperstimulation syndrome (OHSS) PMID: 19514652
Polycystic ovary syndrome (PCOS) PMID: 20528206
Preeclampsia PMID: 25573795

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21474127 Endometrio
sis
117 (35 control
s (no ovarian f
actor, NOF), 28
poor responder
s (PR), 32 pati
ents with endom
etriosis (EM),
and 22 patients
with polycysti
c ovary syndrom
e (PCOS))
 Female infertility FSHR
PAPP
and Cyp19A1
 Show abstract
12765344 Endometrio
sis
98 (60 women wi
th endometriosi
s, 38 women wit
hout endometrio
sis)
 PAPP-A
 Show abstract
16635455 Endometrio
sis
132 (77 women w
ere diagnosed w
ith endometrios
is, 55 women we
re free of the
disease and ser
ved as control
subjects)
 PAPPA
glycodelin
osteoprotegerin
CD163
 Show abstract