Ppp1r13l protein phosphatase 1, regulatory subunit 13 like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ppp1r13lprovided by MGI
Official Full Name: protein phosphatase 1, regulatory subunit 13 likeprovided by MGI
Primary source: MGI:MGI:3525053
See related: Ensembl:ENSMUSG00000040734 AllianceGenome:MGI:3525053
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: wa3; IASPP; Nkip1
Summary: Predicted to enable identical protein binding activity. Involved in negative regulation of inflammatory response. Acts upstream of or within several processes, including cardiac muscle contraction; heart development; and negative regulation of transcription by RNA polymerase II. Predicted to be located in cell junction; cytosol; and intercellular bridge. Is expressed in esophagus; sensory organ; submandibular gland primordium; and vibrissa. Used to study arrhythmogenic right ventricular cardiomyopathy. Orthologous to human PPP1R13L (protein phosphatase 1 regulatory subunit 13 like). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis adult (RPKM 16.3), stomach adult (RPKM 11.1) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 9.62 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (19093639..19112465)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (19359724..19378540)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

p53 inhibitor iASPP is an unexpected suppressor of KRAS and inflammation-driven pancreatic cancer.
Title: p53 inhibitor iASPP is an unexpected suppressor of KRAS and inflammation-driven pancreatic cancer.
Inhibitor of apoptosis-stimulating protein of p53 inhibits ferroptosis and alleviates intestinal ischemia/reperfusion-induced acute lung injury.
Title: Inhibitor of apoptosis-stimulating protein of p53 inhibits ferroptosis and alleviates intestinal ischemia/reperfusion-induced acute lung injury.
Upregulation of iASPP ameliorates hypoxia/reoxygenation-induced apoptosis and oxidative stress in cardiomyocytes by upregulating Nrf2 signaling.
Title: Upregulation of iASPP ameliorates hypoxia/reoxygenation-induced apoptosis and oxidative stress in cardiomyocytes by upregulating Nrf2 signaling.
iASPP protects the heart from ischemia injury by inhibiting p53 expression and cardiomyocyte apoptosis.
Title: iASPP protects the heart from ischemia injury by inhibiting p53 expression and cardiomyocyte apoptosis.
The identification of a cell autonomous role of iASPP deficiency in causing cardiocutaneous syndrome, impaired eyelid development and wound healing suggests that variants in the iASPP gene also may contribute to polygenic heart and skin diseases.
Title: Cell autonomous role of iASPP deficiency in causing cardiocutaneous disorders.
miR-182 plays an aggressive role in the cerebral ischemia injury, and this is associated with inhibited iASPP expression.
Title: MicroRNA-182 aggravates cerebral ischemia injury by targeting inhibitory member of the ASPP family (iASPP).
iASPP expression may act as a predictive marker of prostate cancer progression.
Title: Nuclear iASPP may facilitate prostate cancer progression.
These data demonstrate that by interacting with desmoplakin and desmin, iASPP is an important regulator of desmosomal function both in vitro and in vivo.
Title: iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death.
p53-mediated neuronal cell death after stroke can be nontranscriptionally regulated by a novel mechanism involving suppression of endogenous cell death inhibitors by miR-124.
Title: MicroRNA-124-mediated regulation of inhibitory member of apoptosis-stimulating protein of p53 family in experimental stroke.
PPP1R13L has an essential role in embryonic eyelid closure as well in development of meibomian glands and the anterior segment of the eye
Title: Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l) gene.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (4)
Spontaneous (3) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac right ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inflammatory response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ventricular cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell junction	IEA Inferred from Electronic Annotation more info
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intercellular bridge	IEA Inferred from Electronic Annotation more info
located_in intercellular bridge	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: relA-associated inhibitor

Names: NFkB interacting protein 1; PPP1R13B-like protein; inhibitor of ASPP protein; protein iASPP; protein phosphatase 1, regulatory (inhibitor) subunit 13 like

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_001010836.4 → NP_001010836.1 relA-associated inhibitor

See identical proteins and their annotated locations for NP_001010836.1

Status: VALIDATED

Source sequence(s)

AC118017, AC148988

Consensus CDS

CCDS20899.1

UniProtKB/Swiss-Prot

Q5I1X5

UniProtKB/TrEMBL

Q3TCU2

Related

ENSMUSP00000047839.8, ENSMUST00000047621.14

Conserved Domains (4) summary

cd11952
Location:757 → 813

SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)

PHA03247
Location:46 → 364

PHA03247; large tegument protein UL36; Provisional

sd00045
Location:627 → 653

ANK; ANK repeat [structural motif]

pfam12796
Location:627 → 713

Ank_2; Ankyrin repeats (3 copies)
NM_001419335.1 → NP_001406264.1 relA-associated inhibitor

Status: VALIDATED

Source sequence(s)

AC118017, AC148988

UniProtKB/Swiss-Prot

Q5I1X5

UniProtKB/TrEMBL

Q3TCU2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

19093639..19112465

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540128.4 → XP_006540191.1 relA-associated inhibitor isoform X1

See identical proteins and their annotated locations for XP_006540191.1

UniProtKB/Swiss-Prot

Q5I1X5

UniProtKB/TrEMBL

Q3TCU2

Conserved Domains (4) summary

cd11952
Location:757 → 813

SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)

PHA03247
Location:46 → 364

PHA03247; large tegument protein UL36; Provisional

sd00045
Location:627 → 653

ANK; ANK repeat [structural motif]

pfam12796
Location:627 → 713

Ank_2; Ankyrin repeats (3 copies)
XM_006540126.3 → XP_006540189.1 relA-associated inhibitor isoform X1

See identical proteins and their annotated locations for XP_006540189.1

UniProtKB/Swiss-Prot

Q5I1X5

UniProtKB/TrEMBL

Q3TCU2

Conserved Domains (4) summary

cd11952
Location:757 → 813

SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)

PHA03247
Location:46 → 364

PHA03247; large tegument protein UL36; Provisional

sd00045
Location:627 → 653

ANK; ANK repeat [structural motif]

pfam12796
Location:627 → 713

Ank_2; Ankyrin repeats (3 copies)
XM_036153184.1 → XP_036009077.1 relA-associated inhibitor isoform X1

UniProtKB/Swiss-Prot

Q5I1X5

UniProtKB/TrEMBL

Q3TCU2

Conserved Domains (4) summary

cd11952
Location:757 → 813

SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)

PHA03247
Location:46 → 364

PHA03247; large tegument protein UL36; Provisional

sd00045
Location:627 → 653

ANK; ANK repeat [structural motif]

pfam12796
Location:627 → 713

Ank_2; Ankyrin repeats (3 copies)
XM_006540127.5 → XP_006540190.1 relA-associated inhibitor isoform X1

See identical proteins and their annotated locations for XP_006540190.1

UniProtKB/Swiss-Prot

Q5I1X5

UniProtKB/TrEMBL

Q3TCU2

Conserved Domains (4) summary

cd11952
Location:757 → 813

SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)

PHA03247
Location:46 → 364

PHA03247; large tegument protein UL36; Provisional

sd00045
Location:627 → 653

ANK; ANK repeat [structural motif]

pfam12796
Location:627 → 713

Ank_2; Ankyrin repeats (3 copies)
XM_030242701.2 → XP_030098561.1 relA-associated inhibitor isoform X1

UniProtKB/Swiss-Prot

Q5I1X5

UniProtKB/TrEMBL

Q3TCU2

Conserved Domains (4) summary

cd11952
Location:757 → 813

SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)

PHA03247
Location:46 → 364

PHA03247; large tegument protein UL36; Provisional

sd00045
Location:627 → 653

ANK; ANK repeat [structural motif]

pfam12796
Location:627 → 713

Ank_2; Ankyrin repeats (3 copies)
XM_030242700.2 → XP_030098560.1 relA-associated inhibitor isoform X1

UniProtKB/Swiss-Prot

Q5I1X5

UniProtKB/TrEMBL

Q3TCU2

Conserved Domains (4) summary

cd11952
Location:757 → 813

SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)

PHA03247
Location:46 → 364

PHA03247; large tegument protein UL36; Provisional

sd00045
Location:627 → 653

ANK; ANK repeat [structural motif]

pfam12796
Location:627 → 713

Ank_2; Ankyrin repeats (3 copies)