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

Gene ID: 492307, updated on 27-Nov-2024

Summary

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Official Symbol
PPDPFLprovided by HGNC
Official Full Name
pancreatic progenitor cell differentiation and proliferation factor likeprovided by HGNC
Primary source
HGNC:HGNC:31745
See related
Ensembl:ENSG00000168333 AllianceGenome:HGNC:31745
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
C8orf22
Summary
Predicted to be involved in cell differentiation. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in prostate (RPKM 1.7), esophagus (RPKM 0.6) and 1 other tissue See more
Orthologs
all
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Genomic context

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See PPDPFL in Genome Data Viewer
Location:
8q11.21
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (49054336..49076093)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (49432165..49453922)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (49966895..49988652)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27334 Neighboring gene uncharacterized LOC107986942 Neighboring gene snail family transcriptional repressor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:49930905-49931404 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:50005272-50005851 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:50022257-50023456 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:50041656-50042855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27336 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:50079889-50081088 Neighboring gene uncharacterized LOC105375826 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:50119678-50119830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27338 Neighboring gene Sharpr-MPRA regulatory region 5408 Neighboring gene RN7SK pseudogene 294

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. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
pancreatic progenitor cell differentiation and proliferation factor-like protein
Names
exocrine differentiation and proliferation factor-like protein

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_001007176.5 → NP_001007177.1  pancreatic progenitor cell differentiation and proliferation factor-like protein isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the shortest isoform (a).
    Source sequence(s)
    AC044893, BC017981, DA820911
    Consensus CDS
    CCDS47854.1
    UniProtKB/Swiss-Prot
    Q8WWR9
    Related
    ENSP00000382561.4, ENST00000399653.8
    Conserved Domains (1) summary
    pfam15060
    Location:1 → 69
    PPDFL; Differentiation and proliferation regulator

  2. NM_001256596.1 → NP_001243525.1  pancreatic progenitor cell differentiation and proliferation factor-like protein isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform b, which has a longer and distinct C-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AC044893, BC017981, BG202040
    Consensus CDS
    CCDS59102.1
    UniProtKB/Swiss-Prot
    Q8WWR9
    Related
    ENSP00000430392.1, ENST00000517663.5
    Conserved Domains (1) summary
    pfam15060
    Location:1 → 82
    PPDFL; Differentiation and proliferation regulator

  3. NM_001256597.2 → NP_001243526.1  pancreatic progenitor cell differentiation and proliferation factor-like protein isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform b, which has a longer and distinct C-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AC044893, BC017981, DA900243
    Consensus CDS
    CCDS59102.1
    UniProtKB/Swiss-Prot
    Q8WWR9
    Related
    ENSP00000428773.1, ENST00000522267.6
    Conserved Domains (1) summary
    pfam15060
    Location:1 → 82
    PPDFL; Differentiation and proliferation regulator

  4. NM_001256598.2 → NP_001243527.1  pancreatic progenitor cell differentiation and proliferation factor-like protein isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform c, which has a longer and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC044893, AJ276240, BC017981, DA820911
    Consensus CDS
    CCDS59101.1
    UniProtKB/Swiss-Prot
    G3V137, Q8WVI1, Q8WWR9
    Related
    ENSP00000304926.8, ENST00000303202.8
    Conserved Domains (1) summary
    pfam15060
    Location:1 → 69
    PPDFL; Differentiation and proliferation regulator

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    49054336..49076093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    49432165..49453922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WWR9.1 GenPept UniProtKB/Swiss-Prot:Q8WWR9

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