PEG10
Identifiers
AliasesPEG10, EDR, HB-1, MEF3L, Mar2, Mart2, RGAG3, paternally expressed 10, SIRH1, RTL2
External IDsOMIM: 609810 MGI: 2157785 HomoloGene: 116067 GeneCards: PEG10
Orthologs
SpeciesHumanMouse
Entrez

23089

170676

Ensembl

ENSG00000242265

ENSMUSG00000092035

UniProt

Q86TG7

Q7TN75

RefSeq (mRNA)

NM_001040611
NM_130877

RefSeq (protein)

NP_001035701
NP_570947

Location (UCSC)Chr 7: 94.66 – 94.67 MbChr 6: 4.75 – 4.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Retrotransposon-derived protein PEG10 is a protein that in humans is encoded by the PEG10 gene.[5][6][7][8]

Function

This gene includes two overlapping reading frames of the same transcript encoding distinct isoforms. The shorter isoform has a CCHC-type zinc finger motif containing a sequence characteristic of gag proteins of most retroviruses and some retrotransposons, and it functions in part by interacting with members of the TGF-beta receptor family. The longer isoform has the active-site DSG consensus sequence of the protease domain of pol proteins. The longer isoform is the result of -1 translational frameshifting that is also seen in some retroviruses. Expression of these two isoforms only comes from the paternal allele due to imprinting. Increased gene expression (as observed by an increase in mRNA levels) is associated with hepatocellular carcinomas.[8]

PEG10 is a paternally expressed imprinted gene that is expressed in adult and embryonic tissues.[9] Most notable expression occurs in the placenta. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC). This gene has been reported to play 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. In preeclampsia placental tissue, PEG10 has been shown to be downregulated[10] and upregulated[11] implicating it as a possible causal role in the occurrence of preeclampsia.

Interactions

PEG10 has been shown to interact with SIAH2[12] and SIAH1.[12]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000242265 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000092035 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ono R, Kobayashi S, Wagatsuma H, Aisaka K, Kohda T, Kaneko-Ishino T, Ishino F (Apr 2001). "A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21". Genomics. 73 (2): 232–7. doi:10.1006/geno.2001.6494. PMID 11318613.
  6. ^ Brandt J, Schrauth S, Veith AM, Froschauer A, Haneke T, Schultheis C, Gessler M, Leimeister C, Volff JN (Jan 2005). "Transposable elements as a source of genetic innovation: expression and evolution of a family of retrotransposon-derived neogenes in mammals". Gene. 345 (1): 101–11. doi:10.1016/j.gene.2004.11.022. PMID 15716091.
  7. ^ Brandt J, Veith AM, Volff JN (Aug 2005). "A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian genomes". Cytogenetic and Genome Research. 110 (1–4): 307–17. doi:10.1159/000084963. PMID 16093683. S2CID 38398479.
  8. ^ a b "Entrez Gene: PEG10 paternally expressed 10".
  9. ^ "PEG10 paternally expressed 10 [ Homo sapiens (human) ]". Pubmed. Retrieved 14 April 2015.
  10. ^ Liang XY, Chen X, Jin YZ, Chen XO, Chen QZ (Dec 18, 2014). "Expression and significance of the imprinted gene PEG10 in placenta of patients with preeclampsia". Genetics and Molecular Research. 13 (4): 10607–14. doi:10.4238/2014.December.18.2. PMID 25526181.
  11. ^ Chen H, Sun M, Zhao G, Liu J, Gao W, Si S, Meng T (Oct 2012). "Elevated expression of PEG10 in human placentas from preeclamptic pregnancies". Acta Histochemica. 114 (6): 589–93. doi:10.1016/j.acthis.2011.11.003. PMID 22137777.
  12. ^ a b Okabe H, Satoh S, Furukawa Y, Kato T, Hasegawa S, Nakajima Y, Yamaoka Y, Nakamura Y (Jun 2003). "Involvement of PEG10 in human hepatocellular carcinogenesis through interaction with SIAH1". Cancer Research. 63 (12): 3043–8. PMID 12810624.

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