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

    Gene ID: 196500, updated on 2-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
    mouse all
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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 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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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