Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5069
Gene name Gene Name - the full gene name approved by the HGNC.
Pappalysin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PAPPA
Synonyms (NCBI Gene) Gene synonyms aliases
ASBABP2, DIPLA1, IGFBP-4ase, PAPA, PAPP-A, PAPPA1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PAPA
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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-seq, ELISA, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 23821525
MIRT437513 hsa-miR-490-3p ChIP-seq, ELISA, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 23821525
MIRT438677 hsa-miR-214-3p Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot 23929716
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0005515 Function Protein binding IPI 7685339, 12421832
GO:0005576 Component Extracellular region IDA 10077652
GO:0005576 Component Extracellular region NAS 10913121
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176385 8602 ENSG00000182752
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 11586954
Unknown
Disease term Disease name Evidence References Source
Coronary syndrome Acute Coronary Syndrome 11586954 ClinVar
Endometriosis Endometriosis 21063030 ClinVar
Myocardial infarction Myocardial Infarction 11586954 ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Associate 35013837
Acute Coronary Syndrome Stimulate 11586954
Acute Coronary Syndrome Associate 22997483, 28381225
Alzheimer Disease Associate 33931404
Anemia Sickle Cell Associate 6587344
Aneuploidy Associate 23289277, 24177714
Angina Unstable Stimulate 11586954
Arthritis Rheumatoid Associate 37868981
Arthropathy progressive pseudorheumatoid of childhood Associate 10441570
Ascites Associate 26336825