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    PPDPF pancreatic progenitor cell differentiation and proliferation factor [ Homo sapiens (human) ]

    Gene ID: 79144, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PPDPFprovided by HGNC
    Official Full Name
    pancreatic progenitor cell differentiation and proliferation factorprovided by HGNC
    Primary source
    HGNC:HGNC:16142
    See related
    Ensembl:ENSG00000125534 AllianceGenome:HGNC:16142
    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
    exdpf; C20orf149; dJ697K14.9
    Summary
    Predicted to be involved in cell differentiation. Predicted to act upstream of or within TORC1 signaling and liver development. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in colon (RPKM 131.3), stomach (RPKM 115.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPDPF in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63520741..63522206)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65333433..65334898)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62152094..62153559)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62133167-62133672 Neighboring gene uncharacterized LOC105372725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62133673-62134178 Neighboring gene uncharacterized LOC102723814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62149497-62150374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62150375-62151251 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62151252-62152128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13157 Neighboring gene Sharpr-MPRA regulatory region 4884 Neighboring gene protein tyrosine kinase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13159 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18227 Neighboring gene src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62175449-62176002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62178175-62178816

    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
    • 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. Circular RNA circ-FOXM1 facilitates cell progression as ceRNA to target PPDPF and MACC1 by sponging miR-1304-5p in non-small cell lung cancer. Liu G, et al. Biochem Biophys Res Commun, 2019 May 21. PMID 30954221
    2. Pancreatic progenitor epigenome maps prioritize type 2 diabetes risk genes with roles in development. Geusz RJ, et al. Elife, 2021 Feb 5. PMID 33544077, Free PMC Article
    3. PPDPF suppresses the development of hepatocellular carcinoma through TRIM21-mediated ubiquitination of RIPK1. Wang YK, et al. Cell Rep, 2023 Apr 25. PMID 37027301
    4. PPDPF alleviates hepatic steatosis through inhibition of mTOR signaling. Ma N, et al. Nat Commun, 2021 May 24. PMID 34031390, Free PMC Article
    5. PPDPF Promotes the Progression and acts as an Antiapoptotic Protein in Non-Small Cell Lung Cancer. Yun M, et al. Int J Biol Sci, 2022. PMID 34975328, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pancreatic progenitor epigenome maps prioritize type 2 diabetes risk genes with roles in development.
      Title: Pancreatic progenitor epigenome maps prioritize type 2 diabetes risk genes with roles in development.
    2. PPDPF alleviates hepatic steatosis through inhibition of mTOR signaling.
      Title: PPDPF alleviates hepatic steatosis through inhibition of mTOR signaling.
    3. Circ-FOXM1 upregulated the level of pancreatic progenitor cell differentiation and proliferation factor (PPDPF) and metastasis-associated in colon cancer 1 (MACC1) by sponging miR-1304-5p, thereby increasing the proliferation and invasion of non-small cell lung cancer cells.
      Title: Circular RNA circ-FOXM1 facilitates cell progression as ceRNA to target PPDPF and MACC1 by sponging miR-1304-5p in non-small cell lung cancer.
    Submit: New GeneRIF Correction

    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
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2479, FLJ21046

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in TORC1 signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    pancreatic progenitor cell differentiation and proliferation factor
    Names
    exocrine differentiation and proliferation factor
    pancreatic progenitor cell differentiation and proliferation factor homolog

    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.

    mRNA and Protein(s)

    1. NM_001353423.2 → NP_001340352.1  pancreatic progenitor cell differentiation and proliferation factor isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the 3' coding sequence compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL121829
      Conserved Domains (1) summary
      pfam15060
      Location:1 → 45
      PPDFL; Differentiation and proliferation regulator

    2. NM_024299.4 → NP_077275.1  pancreatic progenitor cell differentiation and proliferation factor isoform 1

      See identical proteins and their annotated locations for NP_077275.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL121829, BC002531, BP325433
      Consensus CDS
      CCDS13523.1
      UniProtKB/Swiss-Prot
      E1P5J2, Q4VXP1, Q9H3Y7, Q9H3Y8
      UniProtKB/TrEMBL
      X6R7I6
      Related
      ENSP00000359198.3, ENST00000370179.8
      Conserved Domains (1) summary
      pfam15060
      Location:1 → 110
      PPDFL; Differentiation and proliferation regulator

    RNA

    1. NR_148427.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL121829, BF727015

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      63520741..63522206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      65333433..65334898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3Y8.1 GenPept UniProtKB/Swiss-Prot:Q9H3Y8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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