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Aliases for PAPLN Gene

Aliases for PAPLN Gene

  • Papilin, Proteoglycan Like Sulfated Glycoprotein 2 3 5
  • Papilin 3

External Ids for PAPLN Gene

Previous GeneCards Identifiers for PAPLN Gene

  • GC14P071694
  • GC14P071696
  • GC14P072774
  • GC14P073704
  • GC14P053869

Summaries for PAPLN Gene

GeneCards Summary for PAPLN Gene

PAPLN (Papilin, Proteoglycan Like Sulfated Glycoprotein) is a Protein Coding gene. GO annotations related to this gene include peptidase activity and serine-type endopeptidase inhibitor activity. An important paralog of this gene is ADAMTS9.

Gene Wiki entry for PAPLN Gene

Additional gene information for PAPLN Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAPLN Gene

Genomics for PAPLN Gene

Regulatory Elements for PAPLN Gene

Enhancers for PAPLN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H073178 1.2 VISTA Ensembl ENCODE 18.1 -55.3 -55329 3 FOXA2 MAX CEBPG RAD21 YY1 GTF3C2 FOXA3 HLF CEBPB EP300 PAPLN LOC100420966 ELMSAN1 ZNF410 RBM25 PSEN1 DCAF4 RNU6-419P NUMB LOC101928123
GH14H073242 0.8 Ensembl ENCODE 19.5 +6.9 6858 0 EED IKZF1 CEBPB CEBPG RUNX3 IKZF2 PAPLN LOC101928123
GH14H073240 0.6 Ensembl 19.5 +5.2 5158 0 EED IKZF1 EBF1 ETV6 DPF2 IKZF2 SPI1 PAPLN PSEN1 LOC101928123
GH14H073057 1.1 ENCODE 9.7 -177.2 -177219 2 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 ZNF207 ZNF410 LOC101928123 RBM25 ELMSAN1 LOC100420966 ZFYVE1 NUMB PAPLN DCAF4 PSEN1
GH14H073135 1 ENCODE 10.6 -98.8 -98814 2 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A DMAP1 BRCA1 ETS1 ELK1 RBM25 LOC101928123 PNMA1 ENSG00000258891 DNAL1 LIN52 ENSG00000258443 PAPLN ELMSAN1 ENSG00000258695
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PAPLN on UCSC Golden Path with GeneCards custom track

Genomic Location for PAPLN Gene

Chromosome:
14
Start:
73,235,843 bp from pter
End:
73,274,640 bp from pter
Size:
38,798 bases
Orientation:
Plus strand

Genomic View for PAPLN Gene

Genes around PAPLN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAPLN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAPLN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAPLN Gene

Proteins for PAPLN Gene

  • Protein details for PAPLN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95428-PPN_HUMAN
    Recommended name:
    Papilin
    Protein Accession:
    O95428
    Secondary Accessions:
    • B4DES8
    • B4DGE6
    • Q659F2
    • Q6UXJ4
    • Q6ZNM1
    • Q6ZUJ0
    • Q7Z681
    • Q8IVU0

    Protein attributes for PAPLN Gene

    Size:
    1278 amino acids
    Molecular mass:
    137700 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC97963.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAC86235.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG57189.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG57189.1; Type=Erroneous termination; Positions=1216; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=BAG57757.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH56406.1; Type=Miscellaneous discrepancy; Note=Partially unspliced mRNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for PAPLN Gene

neXtProt entry for PAPLN Gene

Post-translational modifications for PAPLN Gene

  • Glycosylation at posLast=701701, posLast=702702, Thr706, posLast=872872, Ser897, Ser1221, and Thr1225
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PAPLN Gene

Domains & Families for PAPLN Gene

Gene Families for PAPLN Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for PAPLN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95428

UniProtKB/Swiss-Prot:

PPN_HUMAN :
  • Belongs to the papilin family.
Family:
  • Belongs to the papilin family.
genes like me logo Genes that share domains with PAPLN: view

Function for PAPLN Gene

Phenotypes From GWAS Catalog for PAPLN Gene

Gene Ontology (GO) - Molecular Function for PAPLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with PAPLN: view
genes like me logo Genes that share phenotypes with PAPLN: view

Animal Models for PAPLN Gene

MGI Knock Outs for PAPLN:

Animal Model Products

  • Taconic Biosciences Mouse Models for PAPLN

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PAPLN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PAPLN Gene

Localization for PAPLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAPLN Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAPLN gene
Compartment Confidence
extracellular 5
plasma membrane 3
mitochondrion 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PAPLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with PAPLN: view

Pathways & Interactions for PAPLN Gene

SuperPathways for PAPLN Gene

No Data Available

Interacting Proteins for PAPLN Gene

Gene Ontology (GO) - Biological Process for PAPLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with PAPLN: view

No data available for Pathways by source and SIGNOR curated interactions for PAPLN Gene

Drugs & Compounds for PAPLN Gene

(1) Drugs for PAPLN Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citalopram Approved Pharma 520
genes like me logo Genes that share compounds with PAPLN: view

Transcripts for PAPLN Gene

Unigene Clusters for PAPLN Gene

Papilin, proteoglycan-like sulfated glycoprotein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PAPLN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PAPLN Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^ 17
SP1: -
SP2:
SP3:
SP4: -
SP5:
SP6: - - -
SP7:
SP8:

Relevant External Links for PAPLN Gene

GeneLoc Exon Structure for
PAPLN
ECgene alternative splicing isoforms for
PAPLN

Expression for PAPLN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PAPLN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAPLN Gene

This gene is overexpressed in Nerve - Tibial (x4.7).

Protein differential expression in normal tissues from HIPED for PAPLN Gene

This gene is overexpressed in Skin (20.8), Serum (14.9), and Amniocyte (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PAPLN Gene



NURSA nuclear receptor signaling pathways regulating expression of PAPLN Gene:

PAPLN

SOURCE GeneReport for Unigene cluster for PAPLN Gene:

Hs.509909

Evidence on tissue expression from TISSUES for PAPLN Gene

  • Spleen(4.2)
  • Nervous system(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with PAPLN: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAPLN Gene

Orthologs for PAPLN Gene

This gene was present in the common ancestor of animals.

Orthologs for PAPLN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAPLN 33 34
  • 96.4 (n)
dog
(Canis familiaris)
Mammalia PAPLN 33
  • 81.92 (n)
-- 34
  • 76 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Papln 33 16 34
  • 79.02 (n)
rat
(Rattus norvegicus)
Mammalia Papln 33
  • 78.71 (n)
cow
(Bos Taurus)
Mammalia PAPLN 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAPLN 34
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 27 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PAPLN 33 34
  • 60.27 (n)
lizard
(Anolis carolinensis)
Reptilia PAPLN 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia papln 33
  • 56.28 (n)
zebrafish
(Danio rerio)
Actinopterygii papln 33
  • 54.68 (n)
paplna 34
  • 42 (a)
OneToMany
paplnb 34
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001662 33
  • 49.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ppn 33 34
  • 47.42 (n)
worm
(Caenorhabditis elegans)
Secernentea mig-6 34
  • 16 (a)
OneToOne
Species where no ortholog for PAPLN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAPLN Gene

ENSEMBL:
Gene Tree for PAPLN (if available)
TreeFam:
Gene Tree for PAPLN (if available)

Paralogs for PAPLN Gene

genes like me logo Genes that share paralogs with PAPLN: view

Variants for PAPLN Gene

Sequence variations from dbSNP and Humsavar for PAPLN Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000047121 -- 73,238,611(+) CAGGG(G/T)GCTCC intron-variant, upstream-variant-2KB
rs1000089435 -- 73,235,229(+) GAGGG(C/T)GTCTC upstream-variant-2KB
rs1000154164 -- 73,270,251(+) GGCCC(-/CGCGCT)CAGCG intron-variant
rs1000282165 -- 73,256,336(+) GACCC(A/G)CCTGG intron-variant
rs1000335493 -- 73,260,226(+) AAGTG(A/C)ATCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PAPLN Gene

Variant ID Type Subtype PubMed ID
dgv1932n100 CNV gain 25217958
dgv1933n100 CNV gain 25217958
dgv1934n100 CNV loss 25217958
esv33062 CNV gain 17666407
nsv1035460 CNV gain 25217958
nsv1038340 CNV gain+loss 25217958
nsv1041358 CNV gain 25217958
nsv1042100 CNV loss 25217958
nsv516851 CNV loss 19592680
nsv85407 CNV deletion 16902084
nsv85914 CNV deletion 16902084

Variation tolerance for PAPLN Gene

Residual Variation Intolerance Score: 99.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.80; 96.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAPLN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAPLN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAPLN Gene

Disorders for PAPLN Gene

Relevant External Links for PAPLN

Genetic Association Database (GAD)
PAPLN
Human Genome Epidemiology (HuGE) Navigator
PAPLN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAPLN

No disorders were found for PAPLN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PAPLN Gene

Publications for PAPLN Gene

  1. Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients. (PMID: 19724244) Laje G … McMahon FJ (Pharmacogenetics and genomics 2009) 3 22 45 60
  2. Papilin in development; a pericellular protein with a homology to the ADAMTS metalloproteinases. (PMID: 11076767) Kramerova IA … Fessler JH (Development (Cambridge, England) 2000) 2 3 22 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. (PMID: 19734141) Apte SS (The Journal of biological chemistry 2009) 2 3 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for PAPLN Gene

Sources for PAPLN Gene

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