PPP1R13L protein phosphatase 1 regulatory subunit 13 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R13Lprovided by HGNC
Official Full Name: protein phosphatase 1 regulatory subunit 13 likeprovided by HGNC
Primary source: HGNC:HGNC:18838
See related: Ensembl:ENSG00000104881 MIM:607463; AllianceGenome:HGNC:18838
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAI; RAI4; ARCME; CMAEA; IASPP; NKIP1
Summary: IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]
Expression: Broad expression in skin (RPKM 27.0), placenta (RPKM 6.4) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45379638..45406361, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48206875..48234343, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45882896..45909619, complement)

Chromosome 19 - NC_000019.10 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.
Title: Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.
Common variants of pro-inflammatory gene IL1B and interactions with PPP1R13L and POLR1G in relation to lung cancer among Northeast Chinese.
Title: Common variants of pro-inflammatory gene IL1B and interactions with PPP1R13L and POLR1G in relation to lung cancer among Northeast Chinese.
Chitosan-Gelatin-EGCG Nanoparticle-Meditated LncRNA TMEM44-AS1 Silencing to Activate the P53 Signaling Pathway for the Synergistic Reversal of 5-FU Resistance in Gastric Cancer.
Title: Chitosan-Gelatin-EGCG Nanoparticle-Meditated LncRNA TMEM44-AS1 Silencing to Activate the P53 Signaling Pathway for the Synergistic Reversal of 5-FU Resistance in Gastric Cancer.
TP53 common variants and interaction with PPP1R13L and CD3EAP SNPs and lung cancer risk and smoking behavior in a Chinese population.
Title: TP53 common variants and interaction with PPP1R13L and CD3EAP SNPs and lung cancer risk and smoking behavior in a Chinese population.
iASPP is essential for HIF-1alpha stabilization to promote angiogenesis and glycolysis via attenuating VHL-mediated protein degradation.
Title: iASPP is essential for HIF-1α stabilization to promote angiogenesis and glycolysis via attenuating VHL-mediated protein degradation.
iASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca(2+) homeostasis and control tumor growth and drug resistance.
Title: iASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca(2+) homeostasis and control tumor growth and drug resistance.
iASPP contributes to cell cortex rigidity, mitotic cell rounding, and spindle positioning.
Title: iASPP contributes to cell cortex rigidity, mitotic cell rounding, and spindle positioning.
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
Title: Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
A previously identified apoptosis inhibitor iASPP confers resistance to chemotherapeutic drugs by suppressing senescence in cancer cells.
Title: A previously identified apoptosis inhibitor iASPP confers resistance to chemotherapeutic drugs by suppressing senescence in cancer cells.
Study revealed increased iASPP and DeltaNp63 expression in cutaneous squamous cell carcinoma (cSCC) clinical samples, but also highlighted a significant alteration of iASPP cellular localization, with consequent deregulation of its function. Data suggest that while direct effects of iASPP and p63 upon each other's expression are maintained in cSCC, epigenetic dysregulation of the feedback loop occurs at the microRNA le...
Title: Epigenetic Regulation of iASPP-p63 Feedback Loop in Cutaneous Squamous Cell Carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (101)

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

Associated conditions

Description	Tests
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities MedGen: C5882696 OMIM: 620519 GeneReviews: Not available	not available

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

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2279 (e-PCR)
- UniSTS:473907

STS-R48186 (e-PCR)
- UniSTS:66890

D19S393 (e-PCR)
- UniSTS:46936

STS-W67936 (e-PCR)
- UniSTS:11944

D19S543 (e-PCR)
- UniSTS:149166

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	TAS Traceable Author Statement more info	PubMed

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

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: relA-associated inhibitor

Names: NFkB interacting protein 1; PPP1R13B-like protein; inhibitor of ASPP protein; inhibitor of apoptosis stimulating protein of p53; protein iASPP; protein phosphatase 1, regulatory (inhibitor) subunit 13 like; retinoic acid induced 4

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_001142502.2 → NP_001135974.1 relA-associated inhibitor

See identical proteins and their annotated locations for NP_001135974.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC092309, BC064913, DB209153

Consensus CDS

CCDS33050.1

UniProtKB/Swiss-Prot

Q2PNZ9, Q5DU71, Q5I1X4, Q6P1R7, Q6PKF8, Q8WUF5, Q9Y290

Related

ENSP00000403902.1, ENST00000418234.6

Conserved Domains (4) summary

cd11952
Location:761 → 817

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

cd00204
Location:626 → 748

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:631 → 722

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:631 → 657

ANK; ANK repeat [structural motif]
NM_006663.4 → NP_006654.2 relA-associated inhibitor

See identical proteins and their annotated locations for NP_006654.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC092309, BC032298

Consensus CDS

CCDS33050.1

UniProtKB/Swiss-Prot

Q2PNZ9, Q5DU71, Q5I1X4, Q6P1R7, Q6PKF8, Q8WUF5, Q9Y290

Related

ENSP00000354218.4, ENST00000360957.10

Conserved Domains (4) summary

cd11952
Location:761 → 817

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

cd00204
Location:626 → 748

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:631 → 722

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:631 → 657

ANK; ANK repeat [structural motif]

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

45379638..45406361 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017026178.2 → XP_016881667.1 relA-associated inhibitor isoform X1

UniProtKB/Swiss-Prot

Q2PNZ9, Q5DU71, Q5I1X4, Q6P1R7, Q6PKF8, Q8WUF5, Q9Y290

Conserved Domains (4) summary

cd11952
Location:761 → 817

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

cd00204
Location:626 → 748

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:631 → 722

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:631 → 657

ANK; ANK repeat [structural motif]
XM_017026177.2 → XP_016881666.1 relA-associated inhibitor isoform X1

UniProtKB/Swiss-Prot

Q2PNZ9, Q5DU71, Q5I1X4, Q6P1R7, Q6PKF8, Q8WUF5, Q9Y290

Conserved Domains (4) summary

cd11952
Location:761 → 817

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

cd00204
Location:626 → 748

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:631 → 722

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:631 → 657

ANK; ANK repeat [structural motif]
XM_017026179.2 → XP_016881668.1 relA-associated inhibitor isoform X2