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LOC112679202 ABO promoter region [ Homo sapiens (human) ]

Gene ID: 112679202, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112679202
Gene description
ABO promoter region
Gene type
biological region
Feature type(s)
protein_bind
regulatory: promoter, 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 sequence represents the promoter region of the ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase) blood group gene on the q arm of chromosome 9. It includes the minimally active proximal promoter region that is predominantly used to drive transcription from the ABO gene, and which is mediated, at least in part, by binding of the Sp1 transcription factor. It also includes a repressive region located immediately upstream of the proximal promoter. In addition, this genomic region includes alternative upstream promoters that may drive expression of ABO transcript variants containing alternative 5' exons. Polymorphisms have been described for this genomic region in different ABO haplotypes, where some polymorphisms are known to affect ABO transcriptional activation. [provided by RefSeq, Jul 2018]
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

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Location:
9q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133275187..133276053)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145489062..145489928)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136150603..136151469)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136102720-136103675 Neighboring gene uncharacterized LOC124902294 Neighboring gene lipocalin 1 pseudogene 1 Neighboring gene ABO +36.0 downstream enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136114423-136115032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136115033-136115642 Neighboring gene ABO 3' regulatory region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136130804-136131336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136133484-136134469 Neighboring gene ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase Neighboring gene ABO +5.8 intron 1 enhancer Neighboring gene ABO upstream enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136179717-136180405 Neighboring gene lipocalin 1 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:136202031-136203002 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:136203003-136203973 Neighboring gene surfeit 6

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. [Comparison of Weak ABO Antigen and Normal ABO Antigen in Patients with Acute Leukemia]. Shao M, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2017 Oct. PMID 29070100
  2. [Effects of DNA methylation on ABO gene expression in leukemia]. Shao M, et al. Zhonghua Xue Ye Xue Za Zhi, 2016 Sep 14. PMID 27719724, Free PMC Article
  3. Presence of nucleotide substitutions in the ABO promoter in individuals with phenotypes A3 and B3. Isa K, et al. Vox Sang, 2016 Apr. PMID 26529276
  4. [Molecular mechanism of an individual with weaken B phenotype in ABO blood group]. Ying YL, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2011 Aug. PMID 21811978
  5. Identification and characterization of a novel antisense RNA transcribed from the opposite strand of the human blood group ABO gene. Hata Y, et al. Transfusion, 2007 May. PMID 17465949

See all (30) 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)

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_060716.1 

    Range
    101..967
    Download
    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    133275187..133276053
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_009646201.1 Reference GRCh38.p14 PATCHES

    Range
    101281..102147
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    145489062..145489928
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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