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

    Gene ID: 10848, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PPP1R13L in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10761 Neighboring gene ribosomal protein S16 pseudogene 9 Neighboring gene Sharpr-MPRA regulatory region 10062 Neighboring gene kinesin light chain 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45860553-45860719 Neighboring gene ERCC excision repair 2, TFIIH core complex helicase subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45872585-45873426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45878599-45879436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45879437-45880275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45894822-45895340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45895341-45895857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45901839-45902837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45908213-45909008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14794 Neighboring gene RNA polymerase I subunit G Neighboring gene ERCC excision repair 1, endonuclease non-catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45923066-45923566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14796 Neighboring gene Sharpr-MPRA regulatory region 13779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10765 Neighboring gene microRNA 6088

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA 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

    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)

    NEW Try the new Transcript table

    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)

    1. NM_001142502.2NP_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:761817
      SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)
      cd00204
      Location:626748
      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:631722
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:631657
      ANK; ANK repeat [structural motif]
    2. NM_006663.4NP_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:761817
      SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)
      cd00204
      Location:626748
      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:631722
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:631657
      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

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45379638..45406361 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q2PNZ9, Q5DU71, Q5I1X4, Q6P1R7, Q6PKF8, Q8WUF5, Q9Y290
      Conserved Domains (4) summary
      cd11952
      Location:761817
      SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)
      cd00204
      Location:626748
      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:631722
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:631657
      ANK; ANK repeat [structural motif]
    2. XM_017026177.2XP_016881666.1  relA-associated inhibitor isoform X1

      UniProtKB/Swiss-Prot
      Q2PNZ9, Q5DU71, Q5I1X4, Q6P1R7, Q6PKF8, Q8WUF5, Q9Y290
      Conserved Domains (4) summary
      cd11952
      Location:761817
      SH3_iASPP; Src Homology 3 (SH3) domain of Inhibitor of ASPP protein (iASPP)
      cd00204
      Location:626748
      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:631722
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:631657
      ANK; ANK repeat [structural motif]
    3. XM_017026179.2XP_016881668.1  relA-associated inhibitor isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48206875..48234343 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319575.1XP_054175550.1  relA-associated inhibitor isoform X1

      UniProtKB/Swiss-Prot
      Q2PNZ9, Q5DU71, Q5I1X4, Q6P1R7, Q6PKF8, Q8WUF5, Q9Y290
    2. XM_054319574.1XP_054175549.1  relA-associated inhibitor isoform X1

      UniProtKB/Swiss-Prot
      Q2PNZ9, Q5DU71, Q5I1X4, Q6P1R7, Q6PKF8, Q8WUF5, Q9Y290
    3. XM_054319576.1XP_054175551.1  relA-associated inhibitor isoform X3