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PAPLN papilin, proteoglycan like sulfated glycoprotein [ Homo sapiens (human) ]

Gene ID: 89932, updated on 3-Apr-2024

Summary

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Official Symbol
PAPLNprovided by HGNC
Official Full Name
papilin, proteoglycan like sulfated glycoproteinprovided by HGNC
Primary source
HGNC:HGNC:19262
See related
Ensembl:ENSG00000100767 MIM:617785; AllianceGenome:HGNC:19262
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PPN
Summary
Predicted to enable metalloendopeptidase activity. Predicted to be involved in extracellular matrix organization. Predicted to be located in basement membrane. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in spleen (RPKM 9.2), kidney (RPKM 8.9) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
14q24.2
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73235805..73274623)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67441298..67480056)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (73704214..73741331)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene Neighboring gene RNA binding motif protein 25 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:73591861-73592400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5904 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73635088-73636024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73636025-73636961 Neighboring gene NANOG hESC enhancer GRCh37_chr14:73637234-73637812 Neighboring gene presenilin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:73651850-73652468 Neighboring gene NANOG hESC enhancer GRCh37_chr14:73689643-73690155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:73693769-73694664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8695 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr14:73702487-73703059 and GRCh37_chr14:73703060-73703631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:73704205-73704775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73713969-73714470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73721535-73722035 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73725609-73726296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73726297-73726982 Neighboring gene PAPLN antisense RNA 1 Neighboring gene RNA, U6 small nuclear 419, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73743236-73743736 Neighboring gene NUMB endocytic adaptor protein Neighboring gene NANOG hESC enhancer GRCh37_chr14:73864401-73864904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5910 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:73925581-73926114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:73926115-73926648 Neighboring gene uncharacterized LOC101928143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8698

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. Apte SS. J Biol Chem, 2009 Nov 13. PMID 19734141, Free PMC Article
  2. Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients. Laje G, et al. Pharmacogenet Genomics, 2009 Sep. PMID 19724244, Free PMC Article
  3. The role of ADAMTS-2, collagen type-1, TIMP-3 and papilin levels of uterosacral and cardinal ligaments in the etiopathogenesis of pelvic organ prolapse among women without stress urinary incontinence. Tola EN, et al. Eur J Obstet Gynecol Reprod Biol, 2018 Dec. PMID 30388611
  4. Papilin in development; a pericellular protein with a homology to the ADAMTS metalloproteinases. Kramerova IA, et al. Development, 2000 Dec. PMID 11076767
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ADAMTS-2, collagen type-1, TIMP-3 and papilin levels of the uterosacral ligament play essential roles in the etiopathogenesis of pelvic organ prolapse among postmenopausal women without stress urinary incontinence.
    Title: The role of ADAMTS-2, collagen type-1, TIMP-3 and papilin levels of uterosacral and cardinal ligaments in the etiopathogenesis of pelvic organ prolapse among women without stress urinary incontinence.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC50452, DKFZp434F053

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
papilin

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_001365906.3 → NP_001352835.1  papilin isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC004846
    Consensus CDS
    CCDS91898.1
    UniProtKB/Swiss-Prot
    B4DES8, B4DGE6, O95428, Q659F2, Q6UXJ4, Q6ZNM1, Q6ZUJ0, Q7Z681, Q8IVU0
    Related
    ENSP00000495882.2, ENST00000644200.2
    Conserved Domains (8) summary
    smart00209
    Location:29 → 80
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:1139 → 1219
    IG; Immunoglobulin
    pfam07679
    Location:1049 → 1119
    I-set; Immunoglobulin I-set domain
    pfam00014
    Location:753 → 805
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:183 → 298
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:1235 → 1267
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:814 → 905
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:914 → 978
    Ig; Immunoglobulin domain

  2. NM_001365907.2 → NP_001352836.1  papilin isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC004846
    Consensus CDS
    CCDS91899.1
    Related
    ENSP00000451729.1, ENST00000555445.5
    Conserved Domains (8) summary
    smart00209
    Location:29 → 80
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:1123 → 1203
    IG; Immunoglobulin
    pfam07679
    Location:1033 → 1103
    I-set; Immunoglobulin I-set domain
    pfam00014
    Location:753 → 789
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:183 → 298
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:1219 → 1251
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:798 → 889
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:898 → 962
    Ig; Immunoglobulin domain

  3. NM_173462.4 → NP_775733.3  papilin isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC004846
    Consensus CDS
    CCDS32114.1
    UniProtKB/Swiss-Prot
    O95428
    UniProtKB/TrEMBL
    B3KXI1
    Related
    ENSP00000345395.5, ENST00000340738.9
    Conserved Domains (8) summary
    smart00408
    Location:1030 → 1089
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:29 → 80
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:1023 → 1102
    IG_like; Immunoglobulin like
    pfam00014
    Location:726 → 778
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:197 → 271
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:1208 → 1240
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:787 → 878
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:887 → 951
    Ig; Immunoglobulin domain

RNA

  1. NR_158677.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004846

  2. NR_158678.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004846

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    73235805..73274623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537292.4 → XP_011535594.1  papilin isoform X2

    See identical proteins and their annotated locations for XP_011535594.1

    UniProtKB/Swiss-Prot
    B4DES8, B4DGE6, O95428, Q659F2, Q6UXJ4, Q6ZNM1, Q6ZUJ0, Q7Z681, Q8IVU0
    Conserved Domains (8) summary
    smart00209
    Location:29 → 80
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:1139 → 1219
    IG; Immunoglobulin
    pfam07679
    Location:1049 → 1119
    I-set; Immunoglobulin I-set domain
    pfam00014
    Location:753 → 805
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:183 → 298
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:1235 → 1267
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:814 → 905
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:914 → 978
    Ig; Immunoglobulin domain

  2. XM_011537291.4 → XP_011535593.1  papilin isoform X2

    See identical proteins and their annotated locations for XP_011535593.1

    UniProtKB/Swiss-Prot
    B4DES8, B4DGE6, O95428, Q659F2, Q6UXJ4, Q6ZNM1, Q6ZUJ0, Q7Z681, Q8IVU0
    Conserved Domains (8) summary
    smart00209
    Location:29 → 80
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:1139 → 1219
    IG; Immunoglobulin
    pfam07679
    Location:1049 → 1119
    I-set; Immunoglobulin I-set domain
    pfam00014
    Location:753 → 805
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:183 → 298
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:1235 → 1267
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:814 → 905
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:914 → 978
    Ig; Immunoglobulin domain

  3. XM_047431874.1 → XP_047287830.1  papilin isoform X6

  4. XM_047431875.1 → XP_047287831.1  papilin isoform X8

    Related
    ENSP00000451803.1, ENST00000554301.5

  5. XM_047431872.1 → XP_047287828.1  papilin isoform X1

  6. XM_011537294.3 → XP_011535596.1  papilin isoform X4

    Conserved Domains (8) summary
    smart00408
    Location:1013 → 1072
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:264 → 317
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:1006 → 1085
    IG_like; Immunoglobulin like
    pfam00014
    Location:709 → 761
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:139 → 254
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:1191 → 1223
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:770 → 861
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:870 → 934
    Ig; Immunoglobulin domain

  7. XM_047431873.1 → XP_047287829.1  papilin isoform X5

  8. XM_011537293.4 → XP_011535595.2  papilin isoform X3

  9. XM_017021749.3 → XP_016877238.2  papilin isoform X7

  10. XM_011537296.3 → XP_011535598.2  papilin isoform X9

  11. XM_047431876.1 → XP_047287832.1  papilin isoform X10

    Related
    ENSP00000216658.5, ENST00000216658.9

  12. XM_047431877.1 → XP_047287833.1  papilin isoform X11

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    67441298..67480056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376914.1 → XP_054232889.1  papilin isoform X2

  2. XM_054376913.1 → XP_054232888.1  papilin isoform X2

  3. XM_054376918.1 → XP_054232893.1  papilin isoform X6

  4. XM_054376920.1 → XP_054232895.1  papilin isoform X8

  5. XM_054376912.1 → XP_054232887.1  papilin isoform X1

  6. XM_054376916.1 → XP_054232891.1  papilin isoform X4

  7. XM_054376917.1 → XP_054232892.1  papilin isoform X5

  8. XM_054376915.1 → XP_054232890.1  papilin isoform X3

  9. XM_054376919.1 → XP_054232894.1  papilin isoform X7

  10. XM_054376921.1 → XP_054232896.1  papilin isoform X9

  11. XM_054376922.1 → XP_054232897.1  papilin isoform X10

  12. XM_054376923.1 → XP_054232898.1  papilin isoform X11

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95428.4 GenPept UniProtKB/Swiss-Prot:O95428

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