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LOC112637023 ABO upstream enhancer [ Homo sapiens (human) ]

Gene ID: 112637023, updated on 4-Mar-2025

Summary

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Gene symbol
LOC112637023
Gene description
ABO upstream enhancer
Gene type
biological region
Feature type(s)
protein_bind
regulatory: enhancer
repeat_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 approximately 3.7 kb upstream 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 a 43 bp minisatellite repeat sequence that is present in variable copy numbers in different alleles, from one copy in individuals with A1-type (as present in the GRCh38 reference genome sequence) and O2-type alleles, to four copies in individuals with A2-, B1- and O1-type alleles. This region can enhance expression of the minimal ABO promoter, especially when present in four copies. The heteromeric transcription factor CBF/NF-Y binds to the repeat unit, and mutation of the binding sites results in reduced enhancer activity. [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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See LOC112637023 in Genome Data Viewer
Location:
9q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133278438..133279007)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145492343..145493041)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 (PATCHES) NW_003315925.1 (104532..105101)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902294 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 promoter region 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. [Past and present studies on ABO blood group system]. Takizawa H. Nihon Hoigaku Zasshi, 1998 Oct. PMID 10077971
  2. Allele-related variation in minisatellite repeats involved in the transcription of the blood group ABO gene. Irshaid NM, et al. Transfus Med, 1999 Sep. PMID 10555816
  3. A novel B(weak) hybrid allele lacks three enhancer repeats but generates normal ABO transcript levels. Thuresson B, et al. Vox Sang, 2012 Jan. PMID 21592135
  4. Antigen structure and genetic basis of histo-blood groups A, B and O: their changes associated with human cancer. Hakomori S. Biochim Biophys Acta, 1999 Dec 6. PMID 10580143
  5. Prevalence, serologic and genetic studies of high expressers of the blood group A antigen on platelets*. Sant'Anna Gomes BM, et al. Transfus Med, 2010 Oct. PMID 20553427, Free PMC Article

See all (20) 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_060711.1 

    Range
    101..670
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    133278438..133279007
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_009646201.1 Reference GRCh38.p14 PATCHES

    Range
    104532..105101
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    145492343..145493041
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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