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

Gene ID: 79144, updated on 2-Nov-2024

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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_001353423.2NP_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:145
    PPDFL; Differentiation and proliferation regulator
  2. NM_024299.4NP_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:1110
    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)