Pak1ip1 PAK1 interacting protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pak1ip1provided by MGI
Official Full Name: PAK1 interacting protein 1provided by MGI
Primary source: MGI:MGI:1915333
See related: Ensembl:ENSMUSG00000038683 AllianceGenome:MGI:1915333
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: PIP1; Gdpd1; 5830431I15Rik; 5930415H02Rik
Summary: Acts upstream of or within cell population proliferation and roof of mouth development. Located in nucleolus. Is expressed in chondrocranium and liver lobe. Orthologous to human PAK1IP1 (PAK1 interacting protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 48.3), adrenal adult (RPKM 35.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A3.3; 13 20.23 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (41154486..41166509)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (41001010..41013033)

Chromosome 13 - NC_000079.7 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?

A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.
Title: A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.
Results suggest that the PAK-PIX-GIT1 complex is critical for Erk-dependent myosin phosphorylation and vascular permeability.
Title: Induction of vascular permeability: beta PIX and GIT1 scaffold the activation of extracellular signal-regulated kinase by PAK.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126867 (e-PCR)
- UniSTS:208920

AI314040 (e-PCR)
- UniSTS:160289

AW556169 (e-PCR)
- UniSTS:185970

NoName (e-PCR)
- UniSTS:237001

NoName (e-PCR)
- UniSTS:492279

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell population proliferation	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of signal transduction by p53 class mediator	ISO Inferred from Sequence Orthology more info
involved_in ribosomal large subunit biogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ribosome biogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: p21-activated protein kinase-interacting protein 1

Names: glycerophosphodiester phosphodiesterase domain containing 1; putative PAK inhibitor Skb15

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_026550.3 → NP_080826.2 p21-activated protein kinase-interacting protein 1

See identical proteins and their annotated locations for NP_080826.2

Status: VALIDATED

Source sequence(s)

AK150919, AV225950, BY055321, BY788898

Consensus CDS

CCDS36638.1

UniProtKB/Swiss-Prot

Q3UBK7, Q80UT4, Q8C5N6, Q923K2, Q9D3E9, Q9DCE5

UniProtKB/TrEMBL

Q3UX26

Related

ENSMUSP00000040846.10, ENSMUST00000046951.10

Conserved Domains (3) summary

COG2319
Location:3 → 282

WD40; WD40 repeat [General function prediction only]

sd00039
Location:86 → 121

7WD40; WD40 repeat [structural motif]

cl02567
Location:28 → 274

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...