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    PPP1R13B protein phosphatase 1 regulatory subunit 13B [ Homo sapiens (human) ]

    Gene ID: 23368, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PPP1R13Bprovided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory subunit 13Bprovided by HGNC
    Primary source
    HGNC:HGNC:14950
    See related
    Ensembl:ENSG00000088808 MIM:606455; AllianceGenome:HGNC:14950
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p85; ASPP1; p53BP2-like
    Summary
    This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in thyroid (RPKM 17.5), testis (RPKM 15.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1R13B in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (103733195..103848814, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (97969263..98085448, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104199532..104313912, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104106328-104106828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6168 Neighboring gene kinesin light chain 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:104140157-104140656 Neighboring gene MPRA-validated peak2255 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104172251-104172810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104172811-104173372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104180589-104181274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104184511-104185021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104187639-104188139 Neighboring gene X-ray repair cross complementing 3 Neighboring gene zinc finger FYVE-type containing 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104209353-104210134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6175 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:104260985-104261486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:104261487-104261986 Neighboring gene small nucleolar RNA SNORD51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6179 Neighboring gene PPP1R13B divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6180 Neighboring gene uncharacterized LOC105370689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9113 Neighboring gene Sharpr-MPRA regulatory region 8463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104347808-104348489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104377123-104377623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104387521-104388196 Neighboring gene ATP synthase membrane subunit j

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Downregulation of ASPP1 in gestational trophoblastic disease: correlation with hypermethylation, apoptotic activity and clinical outcome. Mak VC, et al. Mod Pathol, 2011 Apr. PMID 21102414
    2. An indirect role for ASPP1 in limiting p53-dependent p21 expression and cellular senescence. Vigneron AM, et al. EMBO J, 2012 Jan 18. PMID 22068052, Free PMC Article
    3. ASPP1 deficiency promotes epithelial-mesenchymal transition, invasion and metastasis in colorectal cancer. Liu D, et al. Cell Death Dis, 2020 Apr 8. PMID 32269211, Free PMC Article
    4. ASPP1, a common activator of TP53, is inactivated by aberrant methylation of its promoter in acute lymphoblastic leukemia. Agirre X, et al. Oncogene, 2006 Mar 23. PMID 16314841
    5. ASPP1 and ASPP2 bind active RAS, potentiate RAS signalling and enhance p53 activity in cancer cells. Wang Y, et al. Cell Death Differ, 2013 Apr. PMID 23392125, Free PMC Article

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ASPP1 deficiency promotes epithelial-mesenchymal transition, invasion and metastasis in colorectal cancer.
      Title: ASPP1 deficiency promotes epithelial-mesenchymal transition, invasion and metastasis in colorectal cancer.
    2. Apoptosis stimulating protein of p53 (ASPP) 1 and ASPP2 m-RNA expression in oral cancer.
      Title: Apoptosis stimulating protein of p53 (ASPP) 1 and ASPP2 m-RNA expression in oral cancer.
    3. results provide new insights into EGR-1/ASPP1 regulatory loop in sensitizing Quercetin-induced apoptosis. EGR-1/ASPP1, therefore, may be potentially used as therapeutic targets to improve cancer's response to pro-apoptosis treatments.
      Title: EGR-1/ASPP1 inter-regulatory loop promotes apoptosis by inhibiting cyto-protective autophagy.
    4. Results showed that the protein expression levels of ASPP1 in esophageal squamous cell carcinoma (ESCC) tissues and in paired noncancerous tissues were similar but was significantly associated with histological differentiation and invasive depth which suggest that it might be involved in the progression of ESCC.
      Title: Prognostic values of apoptosis-stimulating P53-binding protein 1 and 2 and their relationships with clinical characteristics of esophageal squamous cell carcinoma patients: a retrospective study.
    5. Increased expression of p53 and ASPP1 and downregulation of iASPP.
      Title: A novel all-trans retinoic acid derivative 4-amino‑2‑trifluoromethyl-phenyl retinate inhibits the proliferation of human hepatocellular carcinoma HepG2 cells by inducing G0/G1 cell cycle arrest and apoptosis via upregulation of p53 and ASPP1 and downregulation of iASPP.
    6. ASPP1/2-PP1 complexes are required for chromosome segregation and kinetochore-microtubule attachments.
      Title: ASPP1/2-PP1 complexes are required for chromosome segregation and kinetochore-microtubule attachments.
    7. ASPP1/2 interacted with centrosome linker protein C-Nap1. Co-depletion of ASPP1 and ASPP2 inhibited re-association of C-Nap1 with centrosome at the end of mitosis.
      Title: The tumor suppressor proteins ASPP1 and ASPP2 interact with C-Nap1 and regulate centrosome linker reassembly.
    8. ASPP1 and ASPP2 cooperate with oncogenic RAS to enhance the transcription and apoptotic function of p53.
      Title: ASPP1 and ASPP2 bind active RAS, potentiate RAS signalling and enhance p53 activity in cancer cells.
    9. When the Px(T)PxR motif is deleted or mutated via insertion of a phosphorylation site mimic (T311D), PP-1c fails to bind to all three ASPP proteins, ASPP1, ASPP2 and iASPP.
      Title: Molecular mechanisms underlying the interaction of protein phosphatase-1c with ASPP proteins.
    10. the mRNA expression of ASPP1 and ASPP2 was frequently dowregulated in tumor tissues, and this decreased significantly in samples expressing wild-type p53
      Title: Abnormal expression pattern of the ASPP family of proteins in human non-small cell lung cancer and regulatory functions on apoptosis through p53 by iASPP.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of protein phosphatase 1, regulatory subunit 13B (PPP1R13B) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0771

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables p53 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell cycle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    apoptosis-stimulating of p53 protein 1
    Names
    apoptosis-stimulating protein of p53, 1
    protein phosphatase 1, regulatory (inhibitor) subunit 13B

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_046915.1 RefSeqGene

      Range
      6393..120773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015316.3 → NP_056131.2  apoptosis-stimulating of p53 protein 1

      See identical proteins and their annotated locations for NP_056131.2

      Status: REVIEWED

      Source sequence(s)
      AJ318887, AL049840, AW295594, BC035446, DB461586
      Consensus CDS
      CCDS41997.1
      UniProtKB/Swiss-Prot
      B2RMX5, O94870, Q96KQ4
      UniProtKB/TrEMBL
      A0A3B3ISJ2
      Related
      ENSP00000202556.9, ENST00000202556.14
      Conserved Domains (5) summary
      cd11954
      Location:1022 → 1078
      SH3_ASPP1; Src Homology 3 domain of Apoptosis Stimulating of p53 protein 1
      cd00204
      Location:886 → 1009
      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 ...
      sd00045
      Location:892 → 918
      ANK; ANK repeat [structural motif]
      cl25732
      Location:149 → 317
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26464
      Location:445 → 863
      Atrophin-1; Atrophin-1 family

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      103733195..103848814 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267487.6 → XP_005267544.1  apoptosis-stimulating of p53 protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A3B3ISJ2
      Conserved Domains (8) summary
      cd11954
      Location:1090 → 1146
      SH3_ASPP1; Src Homology 3 domain of Apoptosis Stimulating of p53 protein 1
      cd00204
      Location:954 → 1077
      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 ...
      pfam06484
      Location:780 → 936
      Ten_N; Teneurin Intracellular Region
      pfam07321
      Location:222 → 385
      YscO; Type III secretion protein YscO
      pfam12796
      Location:960 → 1046
      Ank_2; Ankyrin repeats (3 copies)
      pfam13863
      Location:221 → 315
      DUF4200; Domain of unknown function (DUF4200)
      sd00045
      Location:960 → 986
      ANK; ANK repeat [structural motif]
      cl09111
      Location:276 → 386
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

    2. XM_011536593.4 → XP_011534895.1  apoptosis-stimulating of p53 protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3ISJ2
      Conserved Domains (8) summary
      cd11954
      Location:1125 → 1181
      SH3_ASPP1; Src Homology 3 domain of Apoptosis Stimulating of p53 protein 1
      cd00204
      Location:989 → 1112
      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 ...
      pfam06484
      Location:857 → 971
      Ten_N; Teneurin Intracellular Region
      pfam07321
      Location:222 → 385
      YscO; Type III secretion protein YscO
      pfam12796
      Location:995 → 1081
      Ank_2; Ankyrin repeats (3 copies)
      pfam13863
      Location:221 → 315
      DUF4200; Domain of unknown function (DUF4200)
      sd00045
      Location:995 → 1021
      ANK; ANK repeat [structural motif]
      cl09111
      Location:276 → 386
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

    3. XM_017021116.2 → XP_016876605.1  apoptosis-stimulating of p53 protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A3B3ISJ2

    4. XM_047431171.1 → XP_047287127.1  apoptosis-stimulating of p53 protein 1 isoform X5

      Related
      ENSP00000497343.1, ENST00000647748.1

    5. XM_017021117.2 → XP_016876606.1  apoptosis-stimulating of p53 protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A3B3ISJ2

    6. XM_047431170.1 → XP_047287126.1  apoptosis-stimulating of p53 protein 1 isoform X4

    7. XM_017021119.2 → XP_016876608.1  apoptosis-stimulating of p53 protein 1 isoform X7

    8. XM_047431172.1 → XP_047287128.1  apoptosis-stimulating of p53 protein 1 isoform X6

    RNA

    1. XR_007063997.1 RNA Sequence

    2. XR_001750206.3 RNA Sequence

    3. XR_001750205.3 RNA Sequence

    4. XR_001750204.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      97969263..98085448 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375720.1 → XP_054231695.1  apoptosis-stimulating of p53 protein 1 isoform X2

    2. XM_054375718.1 → XP_054231693.1  apoptosis-stimulating of p53 protein 1 isoform X1

    3. XM_054375721.1 → XP_054231696.1  apoptosis-stimulating of p53 protein 1 isoform X3

    4. XM_054375725.1 → XP_054231700.1  apoptosis-stimulating of p53 protein 1 isoform X5

    5. XM_054375722.1 → XP_054231697.1  apoptosis-stimulating of p53 protein 1 isoform X4

    6. XM_054375723.1 → XP_054231698.1  apoptosis-stimulating of p53 protein 1 isoform X4

    7. XM_054375727.1 → XP_054231702.1  apoptosis-stimulating of p53 protein 1 isoform X7

    8. XM_054375724.1 → XP_054231699.1  apoptosis-stimulating of p53 protein 1 isoform X9

    9. XM_054375719.1 → XP_054231694.1  apoptosis-stimulating of p53 protein 1 isoform X8

    10. XM_054375726.1 → XP_054231701.1  apoptosis-stimulating of p53 protein 1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96KQ4.3 GenPept UniProtKB/Swiss-Prot:Q96KQ4

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