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PIANP PILR alpha associated neural protein [ Homo sapiens (human) ]

Gene ID: 196500, updated on 27-Nov-2024

Summary

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Official Symbol
PIANPprovided by HGNC
Official Full Name
PILR alpha associated neural proteinprovided by HGNC
Primary source
HGNC:HGNC:25338
See related
Ensembl:ENSG00000139200 MIM:616065; AllianceGenome:HGNC:25338
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PANP; LEDA1; leda-1; C12orf53
Summary
This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011]
Expression
Biased expression in brain (RPKM 10.4), endometrium (RPKM 2.8) and 3 other tissues See more
Orthologs
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Genomic context

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See PIANP in Genome Data Viewer
Location:
12p13.31
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6692178..6700815, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6704146..6711170, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6802957..6809981, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1551 silencer Neighboring gene inhibitor of growth family member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5874 Neighboring gene zinc finger protein 384 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:6798393-6799019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5875 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6808761-6809262 Neighboring gene RNA, U6 small nuclear 781, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5878 Neighboring gene COP9 signalosome subunit 7A

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. Leda-1/Pianp is targeted to the basolateral plasma membrane by a distinct intracellular juxtamembrane region and modulates barrier properties and E-Cadherin processing. Evdokimov K, et al. Biochem Biophys Res Commun, 2016 Jul 8. PMID 27216462
  2. Liver sinusoidal endothelium: a microenvironment-dependent differentiation program in rat including the novel junctional protein liver endothelial differentiation-associated protein-1. Géraud C, et al. Hepatology, 2010 Jul. PMID 20578158
  3. Proteolytic cleavage of LEDA-1/PIANP by furin-like proprotein convertases precedes its plasma membrane localization. Evdokimov K, et al. Biochem Biophys Res Commun, 2013 Apr 26. PMID 23558288
  4. PANP is a novel O-glycosylated PILRα ligand expressed in neural tissues. Kogure A, et al. Biochem Biophys Res Commun, 2011 Feb 18. PMID 21241660, Free PMC Article
  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 (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Functionally, Leda-1/Pianp increased the transepithelial electrical resistance generated by a polarized cell sheet. While Claudin 1 and 4 expression and activities of small GTPases were not affected, gamma-Secretase-mediated cleavage of E-Cadherin was attenuated by Leda-1/Pianp.
    Title: Leda-1/Pianp is targeted to the basolateral plasma membrane by a distinct intracellular juxtamembrane region and modulates barrier properties and E-Cadherin processing.
  2. Furin-like proprotein convertase-dependent processing precedes the plasma membrane localization of LEDA-1/PIANP that is required for functional receptor-ligand interactions in vitro and in vivo.
    Title: Proteolytic cleavage of LEDA-1/PIANP by furin-like proprotein convertases precedes its plasma membrane localization.
  3. These results suggest that PANP is involved in immune regulation as a ligand of the PILRalpha.
    Title: PANP is a novel O-glycosylated PILRα ligand expressed in neural tissues.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp547D2210

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cerebellum development IEA
Inferred from Electronic Annotation
more info
  
involved_in dentate gyrus development IEA
Inferred from Electronic Annotation
more info
  
involved_in gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in glutamate secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in homeostasis of number of cells IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in response to stress IEA
Inferred from Electronic Annotation
more info
  
involved_in social behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in visual learning IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in presynapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
PILR alpha-associated neural protein
Names
PILR-associating neural protein
liver endothelial differentiation-associated protein-1
paired immunoglobin-like type 2 receptor-associating neural protein

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.

Genomic

  1. NG_029972.2 RefSeqGene

    Range
    5029..12053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001244014.2 → NP_001230943.1  PILR alpha-associated neural protein isoform b precursor

    See identical proteins and their annotated locations for NP_001230943.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate segment in the 3' coding region and UTR, compared to variant 1. It encodes isoform b, which is shorter than isoform a.
    Source sequence(s)
    AY358534, DA090039
    Consensus CDS
    CCDS58205.1
    UniProtKB/TrEMBL
    B3KRH6
    Related
    ENSP00000443919.1, ENST00000534837.6
    Conserved Domains (1) summary
    pfam15298
    Location:195 → 236
    AJAP1_PANP_C; AJAP1/PANP C-terminus

  2. NM_001244015.2 → NP_001230944.1  PILR alpha-associated neural protein isoform a precursor

    See identical proteins and their annotated locations for NP_001230944.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode isoform a.
    Source sequence(s)
    AA653479, AK095854, BM703122
    Consensus CDS
    CCDS44818.1
    UniProtKB/Swiss-Prot
    A8K0T3, B3KPF7, B3KRI6, Q6UX35, Q8IYJ0
    UniProtKB/TrEMBL
    B3KRH6
    Related
    ENSP00000442157.1, ENST00000540656.5
    Conserved Domains (1) summary
    pfam15298
    Location:195 → 236
    AJAP1_PANP_C; AJAP1/PANP C-terminus

  3. NM_153685.4 → NP_710152.1  PILR alpha-associated neural protein isoform a precursor

    See identical proteins and their annotated locations for NP_710152.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC035736, DA090039
    Consensus CDS
    CCDS44818.1
    UniProtKB/Swiss-Prot
    A8K0T3, B3KPF7, B3KRI6, Q6UX35, Q8IYJ0
    UniProtKB/TrEMBL
    B3KRH6
    Related
    ENSP00000317818.5, ENST00000320591.9
    Conserved Domains (1) summary
    pfam15298
    Location:195 → 236
    AJAP1_PANP_C; AJAP1/PANP C-terminus

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    6692178..6700815 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520926.4 → XP_011519228.1  PILR alpha-associated neural protein isoform X1

    See identical proteins and their annotated locations for XP_011519228.1

    UniProtKB/TrEMBL
    B3KRH6
    Conserved Domains (1) summary
    pfam15298
    Location:195 → 236
    AJAP1_PANP_C; AJAP1/PANP C-terminus

  2. XM_047428488.1 → XP_047284444.1  PILR alpha-associated neural protein isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    6704146..6711170 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYJ0.1 GenPept UniProtKB/Swiss-Prot:Q8IYJ0

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