Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10848
Gene name Gene Name - the full gene name approved by the HGNC.	Protein phosphatase 1 regulatory subunit 13 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PPP1R13L
Synonyms (NCBI Gene) Gene synonyms aliases	ARCME, CMAEA, IASPP, NKIP1, RAI, RAI4
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ARCME, RAI
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.	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]

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1114167453	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained

Show/Hide all(45)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004042	hsa-miR-124-3p	Microarray	15685193
MIRT004042	hsa-miR-124-3p	Microarray	18668037
MIRT004042	hsa-miR-124-3p	Luciferase reporter assay, Western Blotting, qRT-PCR	23691514
MIRT004042	hsa-miR-124-3p	Luciferase reporter assay, Western Blotting, qRT-PCR	23691514
MIRT004042	hsa-miR-124-3p	Luciferase reporter assay, Western blot	23624869
MIRT1255889	hsa-miR-3613-3p	CLIP-seq
MIRT1255890	hsa-miR-4652-3p	CLIP-seq
MIRT1255891	hsa-miR-516b	CLIP-seq
MIRT1255892	hsa-miR-548p	CLIP-seq
MIRT1255893	hsa-miR-1275	CLIP-seq
MIRT1255894	hsa-miR-323-5p	CLIP-seq
MIRT1255895	hsa-miR-3612	CLIP-seq
MIRT1255896	hsa-miR-3622b-5p	CLIP-seq
MIRT1255897	hsa-miR-3682-3p	CLIP-seq
MIRT1255898	hsa-miR-3689a-3p	CLIP-seq
MIRT1255899	hsa-miR-3689c	CLIP-seq
MIRT1255900	hsa-miR-3920	CLIP-seq
MIRT1255901	hsa-miR-4477b	CLIP-seq
MIRT1255902	hsa-miR-4505	CLIP-seq
MIRT1255903	hsa-miR-4520b-3p	CLIP-seq
MIRT1255904	hsa-miR-4525	CLIP-seq
MIRT1255905	hsa-miR-4529-3p	CLIP-seq
MIRT1255906	hsa-miR-4536	CLIP-seq
MIRT1255907	hsa-miR-4665-5p	CLIP-seq
MIRT1255908	hsa-miR-4723-5p	CLIP-seq
MIRT1255909	hsa-miR-4728-5p	CLIP-seq
MIRT1255910	hsa-miR-4731-5p	CLIP-seq
MIRT1255911	hsa-miR-4764-5p	CLIP-seq
MIRT1255912	hsa-miR-4804-5p	CLIP-seq
MIRT1255913	hsa-miR-513a-3p	CLIP-seq
MIRT1255914	hsa-miR-625	CLIP-seq
MIRT1255915	hsa-miR-637	CLIP-seq
MIRT1255916	hsa-miR-650	CLIP-seq
MIRT1255917	hsa-miR-876-3p	CLIP-seq
MIRT1255910	hsa-miR-4731-5p	CLIP-seq
MIRT1255894	hsa-miR-323-5p	CLIP-seq
MIRT1255895	hsa-miR-3612	CLIP-seq
MIRT1255896	hsa-miR-3622b-5p	CLIP-seq
MIRT1255897	hsa-miR-3682-3p	CLIP-seq
MIRT1255898	hsa-miR-3689a-3p	CLIP-seq
MIRT1255899	hsa-miR-3689c	CLIP-seq
MIRT1255906	hsa-miR-4536	CLIP-seq
MIRT1255909	hsa-miR-4728-5p	CLIP-seq
MIRT1255916	hsa-miR-650	CLIP-seq
MIRT1255917	hsa-miR-876-3p	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003229	Process	Ventricular cardiac muscle tissue development	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	10336463
GO:0005515	Function	Protein binding	IPI	17906639, 18275817, 18985028, 21513714, 21998301, 22321011, 23623661, 24855949, 26496610, 27173435, 28330616, 28514442
GO:0005634	Component	Nucleus	TAS	10336463
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006351	Process	Transcription, DNA-templated	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006915	Process	Apoptotic process	IEA
GO:0008134	Function	Transcription factor binding	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0030054	Component	Cell junction	IDA
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042633	Process	Hair cycle	IEA
GO:0042802	Function	Identical protein binding	IPI	18275817, 23623661
GO:0045171	Component	Intercellular bridge	IDA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045597	Process	Positive regulation of cell differentiation	IBA	21873635
GO:0048871	Process	Multicellular organismal homeostasis	IEA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS

MIM	HGNC	e!Ensembl
607463	18838	ENSG00000104881

Protein

UniProt ID

Q8WUF5

Protein name

RelA-associated inhibitor (Inhibitor of ASPP protein) (Protein iASPP) (NFkB-interacting protein 1) (PPP1R13B-like protein)

Protein function

Regulator that plays a central role in regulation of apoptosis and transcription via its interaction with NF-kappa-B and p53/TP53 proteins. Blocks transcription of HIV-1 virus by inhibiting the action of both NF-kappa-B and SP1. Also inhibits p5

PDB

2VGE , 6DCX , 6HL6 , 6RZ3 , 9GFO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	631 → 723	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	672 → 756	Ankyrin repeats (3 copies)	Repeat
PF14604	SH3_9	765 → 815	Variant SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart, placenta and prostate. Weakly expressed in brain, liver, skeletal muscle, testis and peripheral blood leukocyte. {ECO:0000269|PubMed:10336463}.

Sequence

MDSEAFQSARDFLDMNFQSLAMKHMDLKQMELDTAAAKVDELTKQLESLWSDSPAPPGPQ
AGPPSRPPRYSSSSIPEPFGSRGSPRKAATDGADTPFGRSESAPTLHPYSPLSPKGRPSS
PRTPLYLQPDAYGSLDRATSPRPRAFDGAGSSLGRAPSPRPGPGPLRQQGPPTPFDFLGR
AGSPRGSPLAEGPQAFFPERGPSPRPPATAYDAPASAFGSSLLGSGGSAFAPPLRAQDDL
TLRRRPPKAWNESDLDVAYEKKPSQTASYERLDVFARPASPSLQLLPWRESSLDGLGGTG
KDNLTSATLPRNYKVSPLASDRRSDAGSYRRSLGSAGPSGTLPRSWQPVSRIPMPPSSPQ
PRGAPRQRPIPLSMIFKLQNAFWEHGASRAMLPGSPLFTRAPPPKLQPQPQPQPQPQSQP
QPQLPPQPQTQPQTPTPAPQHPQQTWPPVNEGPPKPPTELEPEPEIEGLLTPVLEAGDVD
EGPVARPLSPTRLQPALPPEAQSVPELEEVARVLAEIPRPLKRRGSMEQAPAVALPPTHK
KQYQQIISRLFHRHGGPGPGGPEPELSPITEGSEARAGPPAPAPPAPIPPPAPSQSSPPE
QPQSMEMRSVLRKAGSPRKARRARLNPLVLLLDAALTGELEVVQQAVKEMNDPSQPNEEG
ITALHNAICGANYSIVDFLITAGANVNSPDSHGWTPLHCAASCNDTVICMALVQHGAAIF
ATTLSDGATAFEKCDPYREGYADCATYLADVEQSMGLMNSGAVYALWDYSAEFGDELSFR
EGESVTVLRRDGPEETDWWWAALHGQEGYVPRNYFGLFPRVKPQRSKV

Sequence length

828

Interactions

View interactions

	KEGG		Reactome
	NF-kappa B signaling pathway p53 signaling pathway		Regulation of TP53 Activity through Association with Co-factors

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Cardiomyopathy	Cardiomyopathy, Dilated	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377 View all (900 more)
Leopard syndrome	LEOPARD Syndrome	rs28933386, rs121918455, rs121918456, rs121918461, rs121918457, rs121918462, rs121918463, rs121918468, rs121918469, rs121918470, rs267606990, rs80338796, rs80338797, rs180177035, rs387906661 View all (19 more)	25691752, 15661756, 19016676
Leukemia	leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	19299014

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Myopathy	dilated cardiomyopathy	GenCC
Alzheimer disease	Alzheimer disease	GWAS

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining
Arrhythmogenic Right Ventricular Dysplasia	Associate	35933355
Astrocytoma	Associate	26628298
Breast Neoplasms	Associate	18588689
Carcinogenesis	Associate	20800021, 27765948
Carcinoma Hepatocellular	Associate	20800021
Carcinoma Non Small Cell Lung	Associate	21192816
Carcinoma Squamous Cell	Associate	30710576
Choriocarcinoma	Associate	31615473
Chromosomal Instability	Inhibit	26151317
Colorectal Neoplasms	Associate	23691514, 29750311, 36380064
Diabetes Mellitus Transient Neonatal 1	Associate	27075368
Fractures Malunited	Associate	28489738
Genetic Diseases Inborn	Associate	29743530
Gestational Trophoblastic Disease	Associate	31615473
Glioma	Associate	26628298
Hydatidiform Mole	Stimulate	31615473
Leukemia	Inhibit	28402264
Leukemia	Associate	29179704
Leukemia Myeloid Acute	Associate	28402264
Lung Neoplasms	Associate	18709642, 21192816, 26563375, 27183913, 31483011, 35351459, 37147350
Lymphatic Metastasis	Stimulate	28489738
Melanoma	Inhibit	25675294
Metabolic Syndrome	Associate	31739726
Neoplasm Metastasis	Associate	29750311
Neoplasms	Associate	18588689, 20800021, 24966937, 26628298, 27183913, 27765948, 28489738, 29033244, 29743530, 30710576, 34705028, 36380064
Obesity	Associate	31013288
Pancreatic Neoplasms	Associate	26787707
Poisoning	Associate	26681190
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24604828
Prostatic Neoplasms	Associate	24966937
Stomach Neoplasms	Associate	29161238
Trophoblastic Neoplasms	Associate	31615473
Urinary Bladder Neoplasms	Stimulate	28489738
Uterine Cervical Neoplasms	Associate	27765948

PPP1R13L (protein phosphatase 1 regulatory subunit 13 like)