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PEG10 paternally expressed 10 [ Homo sapiens (human) ]

Gene ID: 23089, updated on 3-Nov-2024

Summary

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Official Symbol
PEG10provided by HGNC
Official Full Name
paternally expressed 10provided by HGNC
Primary source
HGNC:HGNC:14005
See related
Ensembl:ENSG00000242265 MIM:609810; AllianceGenome:HGNC:14005
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
EDR; HB-1; Mar2; RTL2; MEF3L; Mart2; RGAG3; SIRH1
Summary
This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014]
Expression
Biased expression in placenta (RPKM 304.5), adrenal (RPKM 114.1) and 3 other tissues See more
Orthologs
mouse all
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Genomic context

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See PEG10 in Genome Data Viewer
Location:
7q21.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (94656325..94669695)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (95892249..95905573)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (94285637..94299007)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375404 Neighboring gene CAS1 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26288 Neighboring gene sarcoglycan epsilon Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:94269649-94270150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:94270151-94270650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:94284793-94285570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18381 Neighboring gene Sharpr-MPRA regulatory region 6132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26292 Neighboring gene RPS3A pseudogene 25 Neighboring gene RNA, U6 small nuclear 956, pseudogene

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GPC3 and PEG10 peptides associated with placental gp96 elicit specific T cell immunity against hepatocellular carcinoma.
    Title: GPC3 and PEG10 peptides associated with placental gp96 elicit specific T cell immunity against hepatocellular carcinoma.
  2. Paternal Expressed Gene 10 (PEG10) is decreased in early-onset preeclampsia.
    Title: Paternal Expressed Gene 10 (PEG10) is decreased in early-onset preeclampsia.
  3. UBQLN2 restrains the domesticated retrotransposon PEG10 to maintain neuronal health in ALS.
    Title: UBQLN2 restrains the domesticated retrotransposon PEG10 to maintain neuronal health in ALS.
  4. LncRNA NALT1 promotes colorectal cancer progression via targeting PEG10 by sponging microRNA-574-5p.
    Title: LncRNA NALT1 promotes colorectal cancer progression via targeting PEG10 by sponging microRNA-574-5p.
  5. Folate deficiency disturbs PEG10 methylation modifications in human spina bifida.
    Title: Folate deficiency disturbs PEG10 methylation modifications in human spina bifida.
  6. Transcriptional regulator CTR9 promotes hepatocellular carcinoma progression and metastasis via increasing PEG10 transcriptional activity.
    Title: Transcriptional regulator CTR9 promotes hepatocellular carcinoma progression and metastasis via increasing PEG10 transcriptional activity.
  7. CRISPR activation screen identifies TGFbeta-associated PEG10 as a crucial tumor suppressor in Ewing sarcoma.
    Title: CRISPR activation screen identifies TGFβ-associated PEG10 as a crucial tumor suppressor in Ewing sarcoma.
  8. PEG10 amplification at 7q21.3 potentiates large-cell transformation in cutaneous T-cell lymphoma.
    Title: PEG10 amplification at 7q21.3 potentiates large-cell transformation in cutaneous T-cell lymphoma.
  9. Circ_0075804 promotes the malignant behaviors of retinoblastoma cells by binding to miR-138-5p to induce PEG10 expression.
    Title: Circ_0075804 promotes the malignant behaviors of retinoblastoma cells by binding to miR-138-5p to induce PEG10 expression.
  10. Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.
    Title: Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.
Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-08-22)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-08-22)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

  • KIAA1051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding HDA PubMed 
enables mRNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein homooligomerization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in vesicle-mediated intercellular transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in viral translational frameshifting IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in extracellular vesicle ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
retrotransposon-derived protein PEG10
Names
MEF3 like 1
Sushi-Ichi retrotransposon homolog 1
embryonal carcinoma differentiation regulated
mammalian retrotransposon-derived 2
mammalian retrotransposon-derived protein 2
myelin expression factor 3-like protein 1
paternally expressed gene 10 protein
retrotransposon Gag like 2
retrotransposon gag domain-containing protein 3
retrotransposon-derived gag-like polyprotein
ty3/Gypsy-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.

Genomic

  1. NG_011340.1 RefSeqGene

    Range
    5001..18371
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1097

mRNA and Protein(s)

  1. NM_001040152.2 → NP_001035242.1  retrotransposon-derived protein PEG10 isoform 2

    See identical proteins and their annotated locations for NP_001035242.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has two overlapping open reading frames (RF1 and RF2) and two in-frame translation initiation codons: an upstream non-AUG (CUG) and a downstream AUG. This isoform (2) produced from RF1 in the absence of -1 translational frameshifting, and use of downstream AUG start codon has a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AB049150, AC069292, AF216076, BP250746, DA683494
    Consensus CDS
    CCDS55126.1
    UniProtKB/Swiss-Prot
    Q86TG7
    Related
    ENSP00000417587.1, ENST00000482108.1
    Conserved Domains (3) summary
    pfam17078
    Location:3 → 49
    SHE3; SWI5-dependent HO expression protein 3
    pfam03732
    Location:119 → 212
    Retrotrans_gag; Retrotransposon gag protein
    pfam16297
    Location:78 → 158
    DUF4939; Domain of unknown function (DUF4939)

  2. NM_001172437.2 → NP_001165908.1  retrotransposon-derived protein PEG10 isoform 3

    See identical proteins and their annotated locations for NP_001165908.1

    Status: REVIEWED

    Source sequence(s)
    AF216076, AK299837, BP250746, DA297295, DA683494
    UniProtKB/TrEMBL
    A0A087WX23
    Conserved Domains (4) summary
    cd00303
    Location:441 → 525
    retropepsin_like; Retropepsins; pepsin-like aspartate proteases
    smart00338
    Location:79 → 125
    BRLZ; basic region leucin zipper
    pfam03732
    Location:195 → 288
    Retrotrans_gag; Retrotransposon gag protein
    pfam16297
    Location:154 → 234
    DUF4939; Domain of unknown function (DUF4939)

  3. NM_001172438.3 → NP_001165909.1  retrotransposon-derived protein PEG10 isoform 4

    See identical proteins and their annotated locations for NP_001165909.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has two overlapping open reading frames (RF1 and RF2). It uses an alternate donor splice site at the 5' terminal exon and initiates translation from an alternate, upstream AUG compared to variant 1. This isoform (4) produced from RF1 in the absence of -1 translational frameshifting has a longer and distinct N-terminus, but a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AF216076, AK299837, DA297295, DA683494
    Consensus CDS
    CCDS75636.1
    UniProtKB/TrEMBL
    B4DSP0
    Related
    ENSP00000418944.2, ENST00000488574.5
    Conserved Domains (3) summary
    pfam03732
    Location:195 → 288
    Retrotrans_gag; Retrotransposon gag protein
    pfam06785
    Location:83 → 133
    UPF0242; Uncharacterized protein family (UPF0242)
    cl29674
    Location:153 → 234
    Retrotrans_gag; Retrotransposon gag protein

  4. NM_001184961.1 → NP_001171890.1  retrotransposon-derived protein PEG10 isoform 5

    See identical proteins and their annotated locations for NP_001171890.1

    Status: REVIEWED

    Source sequence(s)
    AB049150, AC069292, AF216076, BP250746, DA683494
    UniProtKB/TrEMBL
    A0A087WUL4
    Conserved Domains (4) summary
    cd00303
    Location:399 → 483
    retropepsin_like; Retropepsins; pepsin-like aspartate proteases
    smart00338
    Location:37 → 83
    BRLZ; basic region leucin zipper
    pfam03732
    Location:153 → 246
    Retrotrans_gag; Retrotransposon gag protein
    pfam16297
    Location:112 → 192
    DUF4939; Domain of unknown function (DUF4939)

  5. NM_001184962.2 → NP_001171891.1  retrotransposon-derived protein PEG10 isoform 6

    See identical proteins and their annotated locations for NP_001171891.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has two overlapping open reading frames (RF1 and RF2) and two in-frame translation initiation codons: an upstream non-AUG (CUG) and a downstream AUG. This isoform (6) produced from RF1 in the absence of -1 translational frameshifting, and use of upstream non-AUG (CUG) start codon has a longer N-terminus, but a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AB049150, AC069292, AF216076, BP250746, DA683494
    Consensus CDS
    CCDS75637.1
    UniProtKB/TrEMBL
    A0A087WZG9
    Related
    ENSP00000482653.2, ENST00000615790.5
    Conserved Domains (3) summary
    pfam03732
    Location:153 → 246
    Retrotrans_gag; Retrotransposon gag protein
    pfam16297
    Location:112 → 192
    DUF4939; Domain of unknown function (DUF4939)
    cl21462
    Location:45 → 82
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

  6. NM_015068.3 → NP_055883.2  retrotransposon-derived protein PEG10 isoform 1

    See identical proteins and their annotated locations for NP_055883.2

    Status: REVIEWED

    Source sequence(s)
    AB049150, AC069292, AF216076, BP250746, DA683494
    UniProtKB/Swiss-Prot
    B4DSP0, Q86TG7, Q96A68, Q9UPV1
    UniProtKB/TrEMBL
    A0A087WXK2
    Conserved Domains (4) summary
    cd00303
    Location:365 → 449
    retropepsin_like; Retropepsins; pepsin-like aspartate proteases
    smart00338
    Location:3 → 49
    BRLZ; basic region leucin zipper
    pfam03732
    Location:119 → 212
    Retrotrans_gag; Retrotransposon gag protein
    pfam16297
    Location:78 → 158
    DUF4939; Domain of unknown function (DUF4939)

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    94656325..94669695
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    95892249..95905573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86TG7.2 GenPept UniProtKB/Swiss-Prot:Q86TG7

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Chemical Information
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