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PAPPA pappalysin 1 [ Homo sapiens (human) ]

Gene ID: 5069, updated on 22-Aug-2021

Summary

Official Symbol
PAPPAprovided by HGNC
Official Full Name
pappalysin 1provided by HGNC
Primary source
HGNC:HGNC:8602
See related
Ensembl:ENSG00000182752 MIM:176385
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAPA; DIPLA1; PAPP-A; PAPPA1; ASBABP2; IGFBP-4ase
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 pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017]
Expression
Biased expression in placenta (RPKM 34.5) and kidney (RPKM 1.5) See more
Orthologs
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Genomic context

See PAPPA in Genome Data Viewer
Location:
9q33.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (116153752..116402321)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (118916070..119164600)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 474 Neighboring gene uncharacterized LOC105376236 Neighboring gene PAPPA antisense RNA 2 Neighboring gene PAPPA antisense RNA 1 Neighboring gene GATA motif-containing MPRA enhancer 254 Neighboring gene Sharpr-MPRA regulatory region 10185 Neighboring gene ASTN2 antisense RNA 1 Neighboring gene astrotactin 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of maternal and inherited loci for conotruncal heart defects.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Identification of ten loci associated with height highlights new biological pathways in human growth.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metalloendopeptidase activity EXP
Inferred from Experiment
more info
PubMed 
enables metalloendopeptidase activity TAS
Traceable Author Statement
more info
 
enables metallopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables metallopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular protein metabolic process TAS
Traceable Author Statement
more info
 
involved_in female pregnancy NAS
Non-traceable Author Statement
more info
PubMed 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in response to follicle-stimulating hormone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pappalysin-1
Names
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
pregnancy-associated plasma protein A, pappalysin 1
NP_002572.2
XP_006717192.1
XP_016870273.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002581.5NP_002572.2  pappalysin-1 preproprotein

    See identical proteins and their annotated locations for NP_002572.2

    Status: REVIEWED

    Source sequence(s)
    AK300129, AL137024, AL691426, AU134599, AY623010, BC078657, BY795841, X68280
    Consensus CDS
    CCDS6813.1
    UniProtKB/Swiss-Prot
    Q13219
    UniProtKB/TrEMBL
    B4DTA8, Q7Z613
    Related
    ENSP00000330658.3, ENST00000328252.4
    Conserved Domains (7) summary
    cd00033
    Location:13461421
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00004
    Location:15471583
    NL; Domain found in Notch and Lin-12
    TIGR02232
    Location:944983
    myxo_disulf_rpt; Myxococcus cysteine-rich repeat
    smart00560
    Location:117266
    LamGL; LamG-like jellyroll fold domain
    cd04275
    Location:424660
    ZnMc_pappalysin_like; Zinc-dependent metalloprotease, pappalysin_like subfamily. The pregnancy-associated plasma protein A (PAPP-A or pappalysin-1) cleaves insulin-like growth factor-binding proteins 4 and 5, thereby promoting cell growth by releasing bound growth factor. ...
    pfam00084
    Location:14151471
    Sushi; Sushi repeat (SCR repeat)
    pfam13948
    Location:946972
    DUF4215; Domain of unknown function (DUF4215)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    116153752..116402321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014784.2XP_016870273.1  pappalysin-1 isoform X1

  2. XM_006717129.3XP_006717192.1  pappalysin-1 isoform X2

    Conserved Domains (4) summary
    cd00033
    Location:648723
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00004
    Location:849885
    NL; Domain found in Notch and Lin-12
    TIGR02232
    Location:246285
    myxo_disulf_rpt; Myxococcus cysteine-rich repeat
    pfam00084
    Location:717773
    Sushi; Sushi repeat (SCR repeat)
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