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LOC112639999 ABO 3' regulatory region [ Homo sapiens (human) ]

Gene ID: 112639999, updated on 2-Mar-2021

Summary

Gene symbol
LOC112639999
Gene description
ABO 3' regulatory region
Gene type
biological region
Feature type(s)
protein_bind
regulatory: DNase_I_hypersensitive_site, enhancer, silencer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region is located at the 3' end of the ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase) gene on the q arm of chromosome 9. It includes a DNase I hypersensitive site in multiple cell types. A sub-region was shown to function as an ABO enhancer in transfected KATO III gastric cancer cells, with activity dependent on two binding sites for the epithelial transcription factor, Elf5. This genomic region also includes an adjacent sub-region that was shown to negatively regulate the ABO promoter in both KATO III gastric cancer and K562 erythroleukemia cells. [provided by RefSeq, Nov 2020]
Annotation information
Note: This locus has been reviewed for its involvement in coronavirus biology, and is involved in host gene regulation.
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Genomic context

See LOC112639999 in Genome Data Viewer
Location:
9q
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (133251819..133254521)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136127206..136129908)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene lipocalin 1 pseudogene 1 Neighboring gene ABO +36.0 downstream enhancer Neighboring gene ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase Neighboring gene ABO +5.8 intron 1 enhancer Neighboring gene ABO promoter region

Genomic regions, transcripts, and products

General gene information

Other Names

  • ABO +22.6 downstream enhancer
  • ABO 3' repressive region

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_060714.1 

    Range
    101..2803
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    133251819..133254521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_009646201.1 Reference GRCh38.p13 PATCHES

    Range
    77778..80480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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