Gene Gene information from NCBI Gene database.
Entrez ID 5069
Gene name Pappalysin 1
Gene symbol PAPPA
Synonyms (NCBI Gene)
ASBABP2DIPLA1IGFBP-4asePAPAPAPP-APAPPA1
Chromosome 9
Chromosome location 9q33.1
Summary This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathwa
miRNA miRNA information provided by mirtarbase database.
1027
miRTarBase ID miRNA Experiments Reference
MIRT025857 hsa-miR-7-5p Microarray 19073608
MIRT029988 hsa-miR-26b-5p Microarray 19088304
MIRT437513 hsa-miR-490-3p ChIP-seqELISALuciferase reporter assayMicroarrayqRT-PCRWestern blot 23821525
MIRT437513 hsa-miR-490-3p ChIP-seqELISALuciferase reporter assayMicroarrayqRT-PCRWestern blot 23821525
MIRT438677 hsa-miR-214-3p ImmunohistochemistryImmunoprecipitaionLuciferase reporter assayqRT-PCRWestern blot 23929716
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity EXP 11513734
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176385 8602 ENSG00000182752
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13219
Protein 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)
Protein 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. {
PDB 7UFG , 7Y5N , 7Y5Q , 8A7D , 8A7E , 8D8O , 8HGG , 8HGH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13385 Laminin_G_3 100 269 Domain
PF05572 Peptidase_M43 499 660 Pregnancy-associated plasma protein-A Family
PF00084 Sushi 1280 1342 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1346 1412 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 1415 1471 Sushi repeat (SCR repeat) Domain
Tissue specificity 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
MRLWSWVLHLGLLSAALGCGLAERPRRARRDPRAGRPPRPAAGPATCATRAARGRRASPP
PPPPPGGAWEAVRVPRRRQQREARGATEEPSPPSRALYFSGRGEQLRLRADLELPRDAFT
LQVWLRAEGGQRSPAVITGLYDKCSYISRDRGWVVGIHTISDQDNKDPRYFFSLKTDRAR
QVTTINAHRSYLPGQWVYLAATYDGQFMKLYVNGAQVATSGEQVGGIFSPLTQKCKVLML
GGSALNHNYRGYIEHFSLWKVARTQREIL
SDMETHGAHTALPQLLLQENWDNVKHAWSPM
KDGSSPKVEFSNAHGFLLDTSLEPPLCGQTLCDNTEVIASYNQLSSFRQPKVVRYRVVNL
YEDDHKNPTVTREQVDFQHHQLAEAFKQYNISWELDVLEVSNSSLRRRLILANCDISKIG
DENCDPECNHTLTGHDGGDCRHLRHPAFVKKQHNGVCDMDCNYERFNFDGGECCDPEITN
VTQTCFDPDSPHRAYLDVNELKNILKLDGSTHLNIFFAKSSEEELAGVATWPWDKEALMH
LGGIVLNPSFYGMPGHTHTMIHEIGHSLGLYHVFRGISEIQSCSDPCMETEPSFETGDLC
NDTNPAPKHKSCGDPGPGNDTCGFHSFFNTPYNNFMSYADDDCTDSFTPNQVARMHCYLD

LVYQGWQPSRKPAPVALAPQVLGHTTDSVTLEWFPPIDGHFFERELGSACHLCLEGRILV
QYASNASSPMPCSPSGHWSPREAEGHPDVEQPCKSSVRTWSPNSAVNPHTVPPACPEPQG
CYLELEFLYPLVPESLTIWVTFVSTDWDSSGAVNDIKLLAVSGKNISLGPQNVFCDVPLT
IRLWDVGEEVYGIQIYTLDEHLEIDAAMLTSTADTPLCLQCKPLKYKVVRDPPLQMDVAS
ILHLNRKFVDMDLNLGSVYQYWVITISGTEESEPSPAVTYIHGSGYCGDGIIQKDQGEQC
DDMNKINGDGCSLFCRQEVSFNCIDEPSRCYFHDGDGVCEEFEQKTSIKDCGVYTPQGFL
DQWASNASVSHQDQQCPGWVIIGQPAASQVCRTKVIDLSEGISQHAWYPCTISYPYSQLA
QTTFWLRAYFSQPMVAAAVIVHLVTDGTYYGDQKQETISVQLLDTKDQSHDLGLHVLSCR
NNPLIIPVVHDLSQPFYHSQAVRVSFSSPLVAISGVALRSFDNFDPVTLSSCQRGETYSP
AEQSCVHFACEKTDCPELAVENASLNCSSSDRYHGAQCTVSCRTGYVLQIRRDDELIKSQ
TGPSVTVTCTEGKWNKQVACEPVDCSIPDHHQVYAASFSCPEGTTFGSQCSFQCRHPAQL
KGNNSLLTCMEDGLWSFPEALC
ELMCLAPPPVPNADLQTARCRENKHKVGSFCKYKCKPG
YHVPGSSRKSKKRAFKTQCTQDGSWQEGACVP
VTCDPPPPKFHGLYQCTNGFQFNSECRI
KCEDSDASQGLGSNVIHCRKDGTWNGSFHVC
QEMQGQCSVPNELNSNLKLQCPDGYAIGS
ECATSCLDHNSESIILPMNVTVRDIPHWLNPTRVERVVCTAGLKWYPHPALIHCVKGCEP
FMGDNYCDAINNRAFCNYDGGDCCTSTVKTKKVTPFPMSCDLQGDCACRDPQAQEHSRKD
LRGYSHG
Sequence length 1627
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANGINA, UNSTABLE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 11586954
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 17223728, 18377765, 18855223
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 17700210, 21111564, 28381225, 28491088, 30058784, 31582904
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33931404 Associate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 23169786
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 6587344 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 31240733
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 23289277, 24177714 Associate
★☆☆☆☆
Found in Text Mining only
Angina Unstable Angina pectoris Pubtator 11586954 Stimulate
★☆☆☆☆
Found in Text Mining only
Angina, Unstable Intermediate coronary syndrome CTD_human_DG 11586954
★★☆☆☆
Found in Text Mining + Unknown/Other Associations