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

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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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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

NG_029972.2 RefSeqGene

Range

5029..12053

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

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

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

6692178..6700815 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B3KRH6

Conserved Domains (1) summary

pfam15298
Location:195 → 236

AJAP1_PANP_C; AJAP1/PANP C-terminus
XM_047428488.1 → XP_047284444.1 PILR alpha-associated neural protein isoform X1

UniProtKB/TrEMBL

B3KRH6