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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10848
Gene name	Protein phosphatase 1 regulatory subunit 13 like
Gene symbol	PPP1R13L
Synonyms (NCBI Gene)	ARCMECMAEAIASPPNKIP1RAIRAI4
Chromosome	19
Chromosome location	19q13.32
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]

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 assayWestern BlottingqRT-PCR	23691514
MIRT004042	hsa-miR-124-3p	Luciferase reporter assayWestern BlottingqRT-PCR	23691514
MIRT004042	hsa-miR-124-3p	Luciferase reporter assayWestern 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 (27)

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, 27880917, 28330616, 28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10336463
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	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
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0048871	Process	Multicellular organismal-level homeostasis	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IMP	28069640
GO:0060048	Process	Cardiac muscle contraction	IEA

MIM	HGNC	e!Ensembl
607463	18838	ENSG00000104881

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities	Pathogenic; Likely pathogenic	rs2123386598, rs2123382133, rs1114167453, rs1972735240, rs1972986097, rs1973093514	RCV003329408 RCV003329440 RCV003329290 RCV003329388 RCV003329389 RCV003329390
Cardio-cutaneous syndrome	Pathogenic	rs1114167453	RCV000491330
Multiple congenital anomalies/dysmorphic syndrome	Pathogenic	rs2123382133	RCV002272874
OMIM:607463	Pathogenic	rs2123386598	RCV001548752
Orofacial cleft	Likely pathogenic; Pathogenic	rs1973093514	RCV001258324
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs1972735240, rs1972986097, rs34338233, rs1290915929, rs1973093514	RCV001251079 RCV001251080 RCV001251083 RCV001251084 RCV001251081

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cardiovascular phenotype	Uncertain significance	rs767329487, rs556681209, rs765806704, rs756431805, rs752003459, rs764013244, rs368177844, rs201987582, rs376672896, rs950811560, rs529746041	RCV005405979 RCV005405984 RCV005405986 RCV005406109 RCV005406110 RCV005404109 RCV005404111 RCV005404246 RCV005404248 RCV005404249 RCV005404896
Gastric cancer	Uncertain significance	rs145367370	RCV005928889
PPP1R13L-associated cardiac phenotype	Uncertain significance	rs918977048	RCV002266620
PPP1R13L-related disorder	Uncertain significance; Likely benign	rs556681209, rs201321657	RCV004758923 RCV003971608

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)