Pianp PILR alpha associated neural protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pianpprovided by MGI
Official Full Name: PILR alpha associated neural proteinprovided by MGI
Primary source: MGI:MGI:2441908
See related: Ensembl:ENSMUSG00000030329 AllianceGenome:MGI:2441908
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Panp; C530028O21Rik
Summary: Enables protein domain specific binding activity. Acts upstream of or within several processes, including brain development; glutamate secretion; and visual learning. Is active in presynapse. Used to study autism spectrum disorder. Orthologous to human PIANP (PILR alpha associated neural protein). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in frontal lobe adult (RPKM 36.2), cortex adult (RPKM 30.0) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 F2; 6 59.17 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (124973683..124980059)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (124996720..125003096)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pianp deficiency links GABAB receptor signaling and hippocampal and cerebellar neuronal cell composition to autism-like behavior.
Title: Pianp deficiency links GABA(B) receptor signaling and hippocampal and cerebellar neuronal cell composition to autism-like behavior.
Thus, Leda-1/Pianp is constitutively processed by proprotein convertases, sheddases including MMPs and ADAM10/17 and intramembrane protease gamma-secretase.
Title: Posttranslational proteolytic processing of Leda-1/Pianp involves cleavage by MMPs, ADAM10/17 and gamma-secretase.
demonstrate that counter-regulation of the ligand-receptor pair Leda-1/Pianp and Pilralpha is part of the complex innate immune response of macrophages and its genetically determined strain-specific modulation
Title: Counter-regulation of the ligand-receptor pair Leda-1/Pianp and Pilrα during the LPS-mediated immune response of murine macrophages.
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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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU067746 (e-PCR)
- UniSTS:179463

RH136027 (e-PCR)
- UniSTS:210023

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein domain specific binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within cerebellum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dentate gyrus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glutamate secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
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
is_active_in presynapse	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: PILR alpha-associated neural protein

Names: PILR-associating neural protein; brain 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.

mRNA and Protein(s)

NM_001145926.1 → NP_001139398.1 PILR alpha-associated neural protein precursor

See identical proteins and their annotated locations for NP_001139398.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate 5' UTR exon, as compared to variant 1.

Source sequence(s)

AK082984, AK148352, BC065170

Consensus CDS

CCDS20540.1

UniProtKB/Swiss-Prot

Q3UFR0, Q6P1B3, Q71A40, Q8BHU8

Related

ENSMUSP00000124160.2, ENSMUST00000160704.8

Conserved Domains (1) summary

pfam15298
Location:191 → 232

AJAP1_PANP_C; AJAP1/PANP C-terminus
NM_001145927.1 → NP_001139399.1 PILR alpha-associated neural protein precursor

See identical proteins and their annotated locations for NP_001139399.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an alternate 5' UTR exon, as compared to variant 1.

Source sequence(s)

AK082984, BC065170

Consensus CDS

CCDS20540.1

UniProtKB/Swiss-Prot

Q3UFR0, Q6P1B3, Q71A40, Q8BHU8

Related

ENSMUSP00000123940.2, ENSMUST00000162170.8

Conserved Domains (1) summary

pfam15298
Location:191 → 232

AJAP1_PANP_C; AJAP1/PANP C-terminus
NM_175696.4 → NP_783627.2 PILR alpha-associated neural protein precursor

See identical proteins and their annotated locations for NP_783627.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longest transcript. Variants 1-3 encode the same protein.

Source sequence(s)

AK082984, BB868634, BC065170

Consensus CDS

CCDS20540.1

UniProtKB/Swiss-Prot

Q3UFR0, Q6P1B3, Q71A40, Q8BHU8

Related

ENSMUSP00000032479.5, ENSMUST00000032479.11

Conserved Domains (1) summary

pfam15298
Location:191 → 232

AJAP1_PANP_C; AJAP1/PANP C-terminus