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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

    Expression

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    • 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

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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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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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