PEG10
Retrotransposon-derived protein PEG10
Also known as: HB-1, KIAA1051, Mar2, Mart2, MEF3L, PEG10_HUMAN, RGAG3, RTL2, SIRH1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q86TG7
- Gene
- PEG10
- Ensembl
- ENSG00000242265
- Chromosome
- 7
- Canonical length
- 708 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
708 residues, UniProt reviewed canonical sequence.
>Q86TG7|PEG10
1 MTERRRDELS EEINNLREKV MKQSEENNNL QSQVQKLTEE NTTLREQVEP TPEDEDDDIE
61 LRGAAAAAAP PPPIEEECPE DLPEKFDGNP DMLAPFMAQC QIFMEKSTRD FSVDRVRVCF
121 VTSMMTGRAA RWASAKLERS HYLMHNYPAF MMEMKHVFED PQRREVAKRK IRRLRQGMGS
181 VIDYSNAFQM IAQDLDWNEP ALIDQYHEGL SDHIQEELSH LEVAKSLSAL IGQCIHIERR
241 LARAAAARKP RSPPRALVLP HIASHHQVDP TEPVGGARMR LTQEEKERRR KLNLCLYCGT
301 GGHYADNCPA KASKSSPAGK LPGPAVEGPS ATGPEIIRSP QDDASSPHLQ VMLQIHLPGR
361 HTLFVRAMID SGASGNFIDH EYVAQNGIPL RIKDWPILVE AIDGRPIASG PVVHETHDLI
421 VDLGDHREVL SFDVTQSPFF PVVLGVRWLS THDPNITWST RSIVFDSEYC RYHCRMYSPI
481 PPSLPPPAPQ PPLYYPVDGY RVYQPVRYYY VQNVYTPVDE HVYPDHRLVD PHIEMIPGAH
541 SIPSGHVYSL SEPEMAALRD FVARNVKDGL ITPTIAPNGA QVLQVKRGWK LQVSYDCRAP
601 NNFTIQNQYP RLSIPNLEDQ AHLATYTEFV PQIPGYQTYP TYAAYPTYPV GFAWYPVGRD
661 GQGRSLYVPV MITWNPHWYR QPPVPQYPPP QPPPPPPPPP PPPSYSTLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PEG10 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 439 nTPM
Expression across tissuesHPA
Tissue
- placenta: 439 nTPM
- adrenal gland: 163 nTPM
- hypothalamus: 107 nTPM
- basal ganglia: 103 nTPM
- pituitary gland: 82 nTPM
- ovary: 69 nTPM
Single-cell type
- syncytiotrophoblasts: 2,987 nCPM
- cytotrophoblasts: 2,584 nCPM
- migrating cytotrophoblasts: 1,310 nCPM
- corticotrophs: 1,028 nCPM
- gonadotrophs: 933 nCPM
- transitional alveolar cells: 538 nCPM
Immune cell
- NK-cell: 0.9 nTPM
- naive B-cell: 0.6 nTPM
- memory B-cell: 0.5 nTPM
- memory CD8 T-cell: 0.2 nTPM
- gdT-cell: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- hypothalamus: 786 nTPM
- pons: 355 nTPM
- midbrain: 322 nTPM
- basal ganglia: 296 nTPM
- thalamus: 225 nTPM
- amygdala: 213 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PEG10.
Disease | ImmuneIEDB
Conditions an epitope on PEG10 was assayed in.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.43
- gnomAD pLI
- 0.87
- gnomAD missense Z
- 2.08
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- cell differentiation
- mRNA transport
- negative regulation of transforming growth factor beta receptor signaling pathway
- protein homooligomerization
- vesicle-mediated intercellular transport
- viral translational frameshifting
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PEG10 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PEG10 as an antibody target. Whether an autoantibody or antibody against PEG10 could matter depends on whether native PEG10 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PEG10 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PEG10 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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