PPP1R13L
RelA-associated inhibitor
Also known as: IASPP, IASPP_HUMAN, RAI
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8WUF5
- Gene
- PPP1R13L
- Ensembl
- ENSG00000104881
- Chromosome
- 19
- Canonical length
- 828 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
828 residues, UniProt reviewed canonical sequence.
>Q8WUF5|PPP1R13L
1 MDSEAFQSAR DFLDMNFQSL AMKHMDLKQM ELDTAAAKVD ELTKQLESLW SDSPAPPGPQ
61 AGPPSRPPRY SSSSIPEPFG SRGSPRKAAT DGADTPFGRS ESAPTLHPYS PLSPKGRPSS
121 PRTPLYLQPD AYGSLDRATS PRPRAFDGAG SSLGRAPSPR PGPGPLRQQG PPTPFDFLGR
181 AGSPRGSPLA EGPQAFFPER GPSPRPPATA YDAPASAFGS SLLGSGGSAF APPLRAQDDL
241 TLRRRPPKAW NESDLDVAYE KKPSQTASYE RLDVFARPAS PSLQLLPWRE SSLDGLGGTG
301 KDNLTSATLP RNYKVSPLAS DRRSDAGSYR RSLGSAGPSG TLPRSWQPVS RIPMPPSSPQ
361 PRGAPRQRPI PLSMIFKLQN AFWEHGASRA MLPGSPLFTR APPPKLQPQP QPQPQPQSQP
421 QPQLPPQPQT QPQTPTPAPQ HPQQTWPPVN EGPPKPPTEL EPEPEIEGLL TPVLEAGDVD
481 EGPVARPLSP TRLQPALPPE AQSVPELEEV ARVLAEIPRP LKRRGSMEQA PAVALPPTHK
541 KQYQQIISRL FHRHGGPGPG GPEPELSPIT EGSEARAGPP APAPPAPIPP PAPSQSSPPE
601 QPQSMEMRSV LRKAGSPRKA RRARLNPLVL LLDAALTGEL EVVQQAVKEM NDPSQPNEEG
661 ITALHNAICG ANYSIVDFLI TAGANVNSPD SHGWTPLHCA ASCNDTVICM ALVQHGAAIF
721 ATTLSDGATA FEKCDPYREG YADCATYLAD VEQSMGLMNS GAVYALWDYS AEFGDELSFR
781 EGESVTVLRR DGPEETDWWW AALHGQEGYV PRNYFGLFPR VKPQRSKVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PPP1R13L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.6
- Highest tissue expression
- 187 nTPM
Expression across tissuesHPA
Tissue
- skin: 187 nTPM
- esophagus: 157 nTPM
- heart muscle: 124 nTPM
- vagina: 73 nTPM
- cervix: 55 nTPM
- salivary gland: 46 nTPM
Single-cell type
- esophageal apical cells: 470 nCPM
- cardiomyocytes: 259 nCPM
- syncytiotrophoblasts: 248 nCPM
- esophageal suprabasal cells: 231 nCPM
- ocular epithelial cells: 190 nCPM
- suprabasal keratinocytes: 165 nCPM
Immune cell
- memory CD4 T-cell: 0.4 nTPM
- gdT-cell: 0.3 nTPM
- non-classical monocyte: 0.3 nTPM
- T-reg: 0.2 nTPM
- MAIT T-cell: 0.1 nTPM
- memory B-cell: 0.1 nTPM
Brain region
- hypothalamus: 15 nTPM
- thalamus: 10 nTPM
- white matter: 9.1 nTPM
- cerebral cortex: 9 nTPM
- medulla oblongata: 8.5 nTPM
- pons: 8.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PPP1R13L.
Disease | AllUniProt
Conditions PPP1R13L is implicated in, by any mechanism.
- Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (ARCME) MIM:620519
Disease | GeneticClinVar
13 pathogenic / likely-pathogenic of 216 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
- Primary dilated cardiomyopathy
- Cardio-cutaneous syndrome
- Orofacial cleft
- OMIM:607463
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.49
- gnomAD pLI
- 0.03
- gnomAD missense Z
- 1.54
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- cardiac muscle contraction
- cardiac right ventricle morphogenesis
- embryonic camera-type eye development
- hair cycle
- multicellular organism growth
- multicellular organismal-level homeostasis
- negative regulation of inflammatory response
- negative regulation of transcription by RNA polymerase II
- positive regulation of cell differentiation
- post-embryonic development
- regulation of transcription by RNA polymerase II
- ventricular cardiac muscle tissue development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- Ankyrin repeat
- SH3-like domain superfamily
- Ankyrin repeat-containing domain superfamily
- Ankyrin repeats (3 copies)
- Variant SH3 domain
- RelA-associated inhibitor
- RelA-associated inhibitor, SH3 domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PPP1R13L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PPP1R13L as an antibody target. Whether an autoantibody or antibody against PPP1R13L could matter depends on whether native PPP1R13L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PPP1R13L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PPP1R13L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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