Aliases for PAPLN Gene

Aliases for PAPLN Gene

  • Papilin, Proteoglycan Like Sulfated Glycoprotein 2 3 5
  • Papilin 3 4
  • PPN 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. Gene Ontology (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 Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAPLN Gene

Genomics for PAPLN Gene

GeneHancer (GH) Regulatory Elements for PAPLN Gene

Promoters and enhancers for PAPLN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAPLN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PAPLN gene promoter:
  • AREB6
  • c-Myb
  • C/EBPalpha
  • CHOP-10
  • GATA-3
  • HOXA5
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT5A
  • ZID

Genomic Locations for PAPLN Gene

Genomic Locations for PAPLN Gene
chr14:73,235,843-73,274,640
(GRCh38/hg38)
Size:
38,798 bases
Orientation:
Plus strand
chr14:73,704,205-73,741,348
(GRCh37/hg19)
Size:
37,144 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 Ser1221, Thr1225, Ser701, Thr702, Thr706, Thr872, Ser897, and Ser904
  • 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:
  • PAPLN protein (B9EGP7_HUMAN)
  • Papilin (PPN_HUMAN)

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:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0008233 peptidase activity 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:
  • Papln Papln<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for PAPLN

CRISPR Products

Clone Products

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 4
plasma membrane 2
mitochondrion 0
cytosol 0
lysosome 0

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

PathCards logo

SuperPathways for PAPLN Gene

No Data Available

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 573
genes like me logo Genes that share compounds with PAPLN: view

Transcripts for PAPLN Gene

mRNA/cDNA for PAPLN Gene

CRISPR Products

Clone Products

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 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

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 32
  • 96.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PAPLN 32
  • 81.92 (n)
-- 33
  • 76 (a)
OneToMany
-- 33
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Papln 17 33 32
  • 79.02 (n)
rat
(Rattus norvegicus)
Mammalia Papln 32
  • 78.71 (n)
cow
(Bos Taurus)
Mammalia PAPLN 33
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAPLN 33
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 27 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PAPLN 33 32
  • 60.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAPLN 33
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia papln 32
  • 56.28 (n)
zebrafish
(Danio rerio)
Actinopterygii papln 32
  • 54.68 (n)
paplna 33
  • 42 (a)
OneToMany
paplnb 33
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001662 32
  • 49.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ppn 33 32
  • 47.42 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mig-6 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PAPLN: view image

Paralogs for PAPLN Gene

(9) SIMAP similar genes for PAPLN Gene using alignment to 6 proteins:

  • PPN_HUMAN
  • B5MDP7_HUMAN
  • B9EGP7_HUMAN
  • G3V5P6_HUMAN
  • H0YJA1_HUMAN
  • H0YMM2_HUMAN
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 Variation AA Info Type
rs1000047121 -- 73,238,611(+) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000089435 -- 73,235,229(+) C/A/T upstream_transcript_variant
rs1000154164 -- 73,270,251(+) CGCGCTC/C genic_downstream_transcript_variant, intron_variant
rs1000282165 -- 73,256,336(+) G/A/T intron_variant
rs1000335493 -- 73,260,226(+) C/A 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)

Additional Variant Information for PAPLN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PAPLN Gene

Additional Disease Information for PAPLN

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

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 23 43 56
  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 23 56
  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 43 56
  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 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for PAPLN Gene

Sources for PAPLN Gene