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PEG10 paternally expressed 10 [ Homo sapiens (human) ]

Gene ID: 23089, updated on 26-May-2016
Official Symbol
PEG10provided by HGNC
Official Full Name
paternally expressed 10provided by HGNC
Primary source
HGNC:HGNC:14005
See related
Ensembl:ENSG00000242265 MIM:609810; Vega:OTTHUMG00000155578
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; MEF3L; Mart2; RGAG3
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]
Orthologs
Location:
7q21
Exon count:
2
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (94656325..94669695)
105 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 sarcoglycan epsilon Neighboring gene ribosomal protein S3a pseudogene 25 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
retrotransposon-derived protein PEG10
Names
MEF3 like 1
embryonal carcinoma differentiation regulated
mammalian retrotransposon-derived protein 2
myelin expression factor 3-like protein 1
paternally expressed gene 10 protein
retrotransposon gag domain-containing protein 3
retrotransposon-derived gag-like polyprotein
ty3/Gypsy-like protein

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)

mRNA and Protein(s)

  1. NM_001040152.1NP_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, OTTHUMP00000208295, ENST00000482108, OTTHUMT00000340751
    Conserved Domains (4) summary
    pfam03732
    Location:119212
    Retrotrans_gag; Retrotransposon gag protein
    cd14686
    Location:1142
    bZIP; coiled coil [structural motif]
    cl02777
    Location:85119
    chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...
    cl21462
    Location:1148
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
  2. NM_001172437.2NP_001165908.1  retrotransposon-derived protein PEG10 isoform 3

    See identical proteins and their annotated locations for NP_001165908.1

    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 (3) derived from RF1/RF2 by -1 translational frameshifting has a longer and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AF216076, AK299837, BP250746, DA297295, DA683494
    UniProtKB/TrEMBL
    B4DSP0
    Conserved Domains (4) summary
    cd00303
    Location:441525
    retropepsin_like; Retropepsins; pepsin-like aspartate proteases
    smart00338
    Location:79125
    BRLZ; basic region leucin zipper
    pfam03732
    Location:195288
    Retrotrans_gag; Retrotransposon gag protein
    cd14686
    Location:87118
    bZIP; coiled coil [structural motif]
  3. NM_001172438.2NP_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, BP250746, DA297295, DA683494
    Consensus CDS
    CCDS75636.1
    UniProtKB/TrEMBL
    B4DSP0
    Related
    ENSP00000418944, OTTHUMP00000208296, ENST00000488574, OTTHUMT00000340752
    Conserved Domains (4) summary
    pfam03732
    Location:195288
    Retrotrans_gag; Retrotransposon gag protein
    cd14686
    Location:87118
    bZIP; coiled coil [structural motif]
    cl02777
    Location:161195
    chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...
    cl21462
    Location:87124
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
  4. NM_001184961.1NP_001171890.1  retrotransposon-derived protein PEG10 isoform 5

    See identical proteins and their annotated locations for NP_001171890.1

    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 (5) derived from RF1/RF2 by -1 translational frameshifting, and use of upstream non-AUG (CUG) start codon has a longer N-terminus compared to isoform 1.
    Source sequence(s)
    AB049150, AC069292, AF216076, BP250746, DA683494
    UniProtKB/Swiss-Prot
    Q86TG7
    Conserved Domains (4) summary
    cd00303
    Location:399483
    retropepsin_like; Retropepsins; pepsin-like aspartate proteases
    smart00338
    Location:3783
    BRLZ; basic region leucin zipper
    pfam03732
    Location:153246
    Retrotrans_gag; Retrotransposon gag protein
    cd14686
    Location:4576
    bZIP; coiled coil [structural motif]
  5. NM_001184962.1NP_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/Swiss-Prot
    Q86TG7
    Related
    ENSP00000482653, OTTHUMP00000275577, ENST00000615790, OTTHUMT00000476334
    Conserved Domains (4) summary
    pfam03732
    Location:153246
    Retrotrans_gag; Retrotransposon gag protein
    cd14686
    Location:4576
    bZIP; coiled coil [structural motif]
    cl02777
    Location:119153
    chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...
    cl21462
    Location:4582
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
  6. NM_015068.3NP_055883.2  retrotransposon-derived protein PEG10 isoform 1

    See identical proteins and their annotated locations for NP_055883.2

    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 (1) is derived from RF1/RF2 by -1 translational frameshifting and use of downstream AUG start codon.
    Source sequence(s)
    AB049150, AC069292, AF216076, BP250746, DA683494
    UniProtKB/Swiss-Prot
    Q86TG7
    Conserved Domains (4) summary
    cd00303
    Location:365449
    retropepsin_like; Retropepsins; pepsin-like aspartate proteases
    smart00338
    Location:349
    BRLZ; basic region leucin zipper
    pfam03732
    Location:119212
    Retrotrans_gag; Retrotransposon gag protein
    cd14686
    Location:1142
    bZIP; coiled coil [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    94215681..94228835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)