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LOC108961161 POU5F1 5' regulatory region [ Homo sapiens (human) ]

Gene ID: 108961161, updated on 14-Mar-2024

Summary

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Gene symbol
LOC108961161
Gene description
POU5F1 5' regulatory region
Gene type
biological region
Feature type(s)
misc_feature: conserved_region
protein_bind
regulatory: GC_signal, enhancer, promoter
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region encompasses the proximal promoter and upstream regulatory elements of the POU class 5 homeobox 1 (POU5F1, commonly known as OCT3 or OCT4) gene. It includes several regions that are highly conserved with the corresponding mouse region and may have similar activity. This promoter is induced by signalling through estrogen receptor and downregulated by aryl hydrocarbon. Activity of this sequence is regulated by binding of nuclear receptor family member proteins, including Nr5a1/Sf1 and Nr5a2/Lrh1, as well as ETS domain-containing transcription factors. This region is epigenetically silenced by DNA methylation during differentiation. Four subregions were also shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells, where all subregions are associated with the OCT4 transcription factor and are marked by the H3K27ac and H3K4me1 histone modifications, and three of them are additionally associated with NANOG. [provided by RefSeq, Oct 2022]
Orthologs
mouse all
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Genomic context

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Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31170330..31173761)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31038028..31041458)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31138397..31141000)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene coiled-coil alpha-helical rod protein 1 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31123471-31124086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31124820-31125320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31125321-31125821 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:31127045-31127228 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:31128969-31129952 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:31129953-31130936 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:31132319-31132900 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31135533-31136390 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:31136391-31137248 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:31137249-31138106 Neighboring gene transcription factor 19 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31142488-31143384 Neighboring gene POU class 5 homeobox 1 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31145628-31146222 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31146755-31147256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31148363-31148906 Neighboring gene psoriasis susceptibility 1 candidate 3 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31153427-31154016 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31154017-31154604 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31158168-31158669 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31163380-31164262 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31166400-31167283 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31167284-31168166 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31169734-31170274 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31170275-31170813 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31170972-31171692 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31171693-31172412 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31172413-31173132 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31173133-31173851 Neighboring gene HLA complex group 27 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31178749-31179743 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:31180245-31180430 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31183567-31184468 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31190777-31191278 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31192075-31192697 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31192791-31193386 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31196240-31196741 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31197314-31197823 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31203152-31203653 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31207427-31207928 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:31212376-31213125 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31213660-31214161 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31217950-31218451 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31220759-31221378 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31221379-31221998 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31222367-31223043 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31227633-31228239 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31228743-31229244 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31234264-31235207 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31235343-31235902 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31236021-31236522 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31237308-31237809 Neighboring gene major histocompatibility complex, class I, C

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Tryptophan derivatives regulate the transcription of Oct4 in stem-like cancer cells. Cheng J, et al. Nat Commun, 2015 Jun 10. PMID 26059097, Free PMC Article
  2. Identification of small activating RNAs that enhance endogenous OCT4 expression in human mesenchymal stem cells. Wang J, et al. Stem Cells Dev, 2015 Feb 1. PMID 25232932, Free PMC Article
  3. Heat shock instructs hESCs to exit from the self-renewal program through negative regulation of OCT4 by SAPK/JNK and HSF1 pathway. Byun K, et al. Stem Cell Res, 2013 Nov. PMID 24090933
  4. Differentiation potential and profile of nuclear receptor expression during expanded culture of human adipose tissue-derived stem cells reveals PPARγ as an important regulator of Oct4 expression. Dao LT, et al. Stem Cells Dev, 2014 Jan 1. PMID 23998797
  5. Metformin represses self-renewal of the human breast carcinoma stem cells via inhibition of estrogen receptor-mediated OCT4 expression. Jung JW, et al. PLoS One, 2011. PMID 22132214, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

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

See Variation Viewer (GRCh37.p13)

General gene information

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Homology

Other Names

  • OCT3/4 promoter region
  • OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31138107-31138964
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31138965-31139822
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31139823-31140680
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31140681-31141538

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_051980.2 

    Range
    101..3532
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    31170330..31173761
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    2652772..2656202
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    2429664..2433094
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    2480850..2484281
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    2514464..2517894
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    2428380..2431811
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    2473762..2477192
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    31038028..31041458
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
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