PPP1R13L (protein phosphatase 1 regulatory subunit 13 like)

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]
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1114167453 G>C Pathogenic Coding sequence variant, genic downstream transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
45
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607463 18838 ENSG00000104881
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  NF-kappa B signaling pathway
p53 signaling pathway 		  Regulation of TP53 Activity through Association with Co-factors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities Pathogenic; Likely pathogenic rs2123386598, rs2123382133, rs1114167453, rs1972735240, rs1972986097, rs1973093514 RCV003329408
RCV003329440
RCV003329290
RCV003329388
RCV003329389
View all (1 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-cutaneous syndrome Pathogenic rs1114167453 RCV000491330
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple congenital anomalies/dysmorphic syndrome Pathogenic rs2123382133 RCV002272874
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OMIM:607463 Pathogenic rs2123386598 RCV001548752
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (114)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 15607367, 24668753, 28402264
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 24604828
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16817948
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 16817948
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 16817948
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 24604828
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 28318881
★★★★★
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy BEFREE 25691752
★★★★★
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy Pubtator 35933355 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 26628298 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only