HSERVPRODH human-specific endogenous retroviral insert PRODH enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: HSERVPRODH
Gene description: human-specific endogenous retroviral insert PRODH enhancer
Gene type: biological region
Feature type(s): mobile_element
protein_bind
regulatory: enhancer, promoter, silencer, transcriptional_cis_regulatory_region
repeat_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: hsERV_PRODH
Summary: This region includes an endogenous retrovirus long-terminal repeat (LTR)-derived sequence that binds SRY (sex determining region Y)-box 2 (SOX2) and functions as an enhancer of the proline dehydrogenase (oxidase) 1 (PRODH) gene in Tera-1 (testicular embryonal germ cell tumor) cells. The LTR sequence acts synergistically with a CG-rich region downstream of the transcription start site to promote expression of the PRODH gene. Cytosine methylation of the LTR element but not the CG-region can prevent enhancer activity. The orthologous sequence in chimpanzee does not function as an enhancer, suggesting that regulation by this region is human-specific. A subregion of the LTR element was also validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 3:PromF, promoter flanking), but the same subregion displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). A subregion was also shown to be an enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac histone modification. [provided by RefSeq, Dec 2022]
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Genomic context

Location:: 22q11.21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (18936275..18939737)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (19311664..19315131)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (18923788..18927250)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

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General gene information

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Other Names

OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:18926365-18926872
PRODH 5' regulatory region
Sharpr-MPRA regulatory region 122

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.