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Aliases for PAPLN Gene

Aliases for PAPLN Gene

  • Papilin, Proteoglycan-Like Sulfated Glycoprotein 2 3
  • 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. Diseases associated with PAPLN include weill-marchesani syndrome. GO annotations related to this gene include metalloendopeptidase activity and serine-type endopeptidase inhibitor activity. An important paralog of this gene is ADAMTSL1.

Gene Wiki entry for PAPLN Gene

No data available for Entrez Gene 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PAPLN Gene

Start:
73,237,497 bp from pter
End:
73,274,640 bp from pter
Size:
37,144 bases
Orientation:
Plus strand

Genomic View for PAPLN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PAPLN Gene at MOPED

Post-translational modifications for PAPLN Gene

  • Glycosylation at Ser701, Thr702, Thr706, Thr872, Ser897, Ser904, Ser1221, and Thr1225
  • Modification sites at PhosphoSitePlus

Other Protein References for PAPLN Gene

No data available for DME Specific Peptides for PAPLN Gene

Domains for PAPLN Gene

Gene Families for PAPLN Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
IUPHAR :

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 :
  • O95428
Domain:
  • Contains 1 BPTI/Kunitz inhibitor domain.
  • Contains 3 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 PLAC domain.
  • Contains 5 TSP type-1 domains.
Family:
  • Belongs to the papilin family.
genes like me logo Genes that share domains with PAPLN: view

Function 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:0005515 protein binding --
GO:0008233 peptidase activity --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with PAPLN: view

Phenotypes for PAPLN Gene

GenomeRNAi human phenotypes for PAPLN:
genes like me logo Genes that share phenotypes with PAPLN: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PAPLN Gene

Localization for PAPLN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAPLN Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAPLN Gene COMPARTMENTS Subcellular localization image for PAPLN gene
Compartment Confidence
extracellular 3
plasma membrane 3
cytosol 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PAPLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix --
GO:0005604 basement membrane IEA --
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with PAPLN: view

Pathways for PAPLN Gene

SuperPathways for PAPLN Gene

No Data Available

Interacting Proteins for PAPLN Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000345395%0d%0a9606.ENSP00000280527%0d%0a9606.ENSP00000368190%0d%0a9606.ENSP00000201031%0d%0a9606.ENSP00000424243%0d%0a9606.ENSP00000346964%0d%0a
Selected Interacting proteins: ENSP00000345395 O95428-PPN_HUMAN for PAPLN Gene via STRING I2D

Gene Ontology (GO) - Biological Process for PAPLN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis 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 for PAPLN Gene

Transcripts for PAPLN Gene

Unigene Clusters for PAPLN Gene

Papilin, proteoglycan-like sulfated glycoprotein:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAPLN

Primer Products

Flow Cytometry 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 for PAPLN Gene

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

This gene is overexpressed in Nerve - Tibial (4.7).

Protein differential expression in normal tissues for PAPLN Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PAPLN Gene

SOURCE GeneReport for Unigene cluster for PAPLN Gene Hs.509909

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

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Expression partners 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
dog
(Canis familiaris)
Mammalia PAPLN 35
  • 81.92 (n)
  • 77.92 (a)
-- 36
  • 76 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Papln 35
  • 79.02 (n)
  • 75.24 (a)
Papln 16
Papln 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAPLN 35
  • 96.4 (n)
  • 95.61 (a)
PAPLN 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Papln 35
  • 78.71 (n)
  • 74.61 (a)
cow
(Bos Taurus)
Mammalia PAPLN 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAPLN 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 27 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PAPLN 35
  • 60.27 (n)
  • 53.77 (a)
PAPLN 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAPLN 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia papln 35
  • 56.28 (n)
  • 51.76 (a)
zebrafish
(Danio rerio)
Actinopterygii papln 35
  • 54.68 (n)
  • 48.34 (a)
paplna 36
  • 42 (a)
OneToMany
paplnb 36
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001662 35
  • 49.76 (n)
  • 38.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ppn 35
  • 47.42 (n)
  • 37.7 (a)
Ppn 36
  • 13 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mig-6 36
  • 16 (a)
OneToOne
Species with no ortholog for PAPLN:
  • 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

Selected SIMAP similar genes for PAPLN Gene using alignment to 6 proteins:

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 MAF
rs125505 -- 73,242,307(+) CCTGA(C/T)GGCCA intron-variant
rs177382 -- 73,269,236(-) tgacc(A/G)gtgga intron-variant
rs177383 -- 73,265,594(-) CATGC(C/G)CTAGC intron-variant
rs177384 -- 73,265,287(+) GGGCC(A/G)CCAGG intron-variant
rs177385 -- 73,263,582(+) CACTG(A/C/G/T)TTAGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv902081 CNV Gain 21882294
dgv1957n71 CNV Loss 21882294
nsv902085 CNV Gain 21882294
nsv516851 CNV Loss 19592680
nsv85914 CNV Loss 16902084
nsv85407 CNV Loss 16902084
esv33062 CNV Gain 17666407

Relevant External Links for PAPLN Gene

HapMap Linkage Disequilibrium report
PAPLN

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

Disorders for PAPLN Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for PAPLN Gene in MalaCards »

(1) Diseases for PAPLN Gene including...

(1) University of Copenhagen DISEASES for PAPLN Gene

Relevant External Links for PAPLN

Genetic Association Database (GAD)
PAPLN
Human Genome Epidemiology (HuGE) Navigator
PAPLN
genes like me logo Genes that share disorders with PAPLN: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for PAPLN Gene

Publications for PAPLN Gene

  1. Papilin in development; a pericellular protein with a homology to the ADAMTS metalloproteinases. (PMID: 11076767) Kramerova I.A. … Fessler J.H. (Development 2000) 2 3 23
  2. Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients. (PMID: 19724244) Laje G. … McMahon F.J. (Pharmacogenet. Genomics 2009) 3 23 48
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. (PMID: 19734141) Apte S.S. (J. Biol. Chem. 2009) 2 3

Products for PAPLN Gene

Sources for PAPLN Gene

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