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

Gene ID: 89932, updated on 10-Oct-2024

Summary

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
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Genomic context

See PAPLN in Genome Data Viewer
Location:
14q24.2
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73235805..73274623)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67441298..67480056)
RS_2024_09 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

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
involved_in negative regulation of peptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

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_001365906.3NP_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:2980
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:11391219
    IG; Immunoglobulin
    pfam07679
    Location:10491119
    I-set; Immunoglobulin I-set domain
    pfam00014
    Location:753805
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:183298
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:12351267
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:814905
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:914978
    Ig; Immunoglobulin domain
  2. NM_001365907.2NP_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:2980
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:11231203
    IG; Immunoglobulin
    pfam07679
    Location:10331103
    I-set; Immunoglobulin I-set domain
    pfam00014
    Location:753789
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:183298
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:12191251
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:798889
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:898962
    Ig; Immunoglobulin domain
  3. NM_173462.4NP_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:10301089
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:2980
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:10231102
    IG_like; Immunoglobulin like
    pfam00014
    Location:726778
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:197271
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:12081240
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:787878
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:887951
    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_2024_08

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_011537292.4XP_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:2980
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:11391219
    IG; Immunoglobulin
    pfam07679
    Location:10491119
    I-set; Immunoglobulin I-set domain
    pfam00014
    Location:753805
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:183298
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:12351267
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:814905
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:914978
    Ig; Immunoglobulin domain
  2. XM_011537291.4XP_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:2980
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:11391219
    IG; Immunoglobulin
    pfam07679
    Location:10491119
    I-set; Immunoglobulin I-set domain
    pfam00014
    Location:753805
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:183298
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:12351267
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:814905
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:914978
    Ig; Immunoglobulin domain
  3. XM_047431874.1XP_047287830.1  papilin isoform X6

  4. XM_047431875.1XP_047287831.1  papilin isoform X8

    Related
    ENSP00000451803.1, ENST00000554301.5
  5. XM_047431872.1XP_047287828.1  papilin isoform X1

  6. XM_011537294.3XP_011535596.1  papilin isoform X4

    Conserved Domains (8) summary
    smart00408
    Location:10131072
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:264317
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:10061085
    IG_like; Immunoglobulin like
    pfam00014
    Location:709761
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
    pfam05986
    Location:139254
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:11911223
    PLAC; PLAC (protease and lacunin) domain
    pfam16626
    Location:770861
    Papilin_u7; Linking region between Kunitz_BPTI and I-set on papilin
    cl11960
    Location:870934
    Ig; Immunoglobulin domain
  7. XM_047431873.1XP_047287829.1  papilin isoform X5

  8. XM_011537293.4XP_011535595.2  papilin isoform X3

  9. XM_017021749.3XP_016877238.2  papilin isoform X7

  10. XM_011537296.3XP_011535598.2  papilin isoform X9

  11. XM_047431876.1XP_047287832.1  papilin isoform X10

    Related
    ENSP00000216658.5, ENST00000216658.9
  12. XM_047431877.1XP_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_054376914.1XP_054232889.1  papilin isoform X2

  2. XM_054376913.1XP_054232888.1  papilin isoform X2

  3. XM_054376918.1XP_054232893.1  papilin isoform X6

  4. XM_054376920.1XP_054232895.1  papilin isoform X8

  5. XM_054376912.1XP_054232887.1  papilin isoform X1

  6. XM_054376916.1XP_054232891.1  papilin isoform X4

  7. XM_054376917.1XP_054232892.1  papilin isoform X5

  8. XM_054376915.1XP_054232890.1  papilin isoform X3

  9. XM_054376919.1XP_054232894.1  papilin isoform X7

  10. XM_054376921.1XP_054232896.1  papilin isoform X9

  11. XM_054376922.1XP_054232897.1  papilin isoform X10

  12. XM_054376923.1XP_054232898.1  papilin isoform X11