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LOC110013311 hereditary persistence of fetal hemoglobin-6 3' breakpoint enhancer [ Homo sapiens (human) ]

Gene ID: 110013311, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110013311
Gene description
hereditary persistence of fetal hemoglobin-6 3' breakpoint enhancer
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This locus represents an enhancer that is present downstream of the beta-globin gene cluster on chromosome 11 (with respect to the direction of beta-globin gene transcription). It is located 0.5 kb downstream of the 3' breakpoint of a deletion found in patients with hereditary persistence of fetal hemoglobin-6 (HPFH-6), where the deletion removes one of the fetal globin genes (HBG1), the adult beta-globin genes (HBD and HBB) and a 3' DNase I hypersensitive site 1 (3'HS1). In this deletion, it is thought that the juxtaposition of the enhancer next to the remaining fetal Ggamma-globin gene (HBG2) is responsible for its persistent expression in adult blood. Experiments in transgenic mice show that this enhancer can result in persistent expression of a gamma-globin gene in adult blood. [provided by RefSeq, Apr 2017]
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Genomic context

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See LOC110013311 in Genome Data Viewer
Location:
11p15.4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5170745..5172221)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5230102..5231578)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5191975..5193451)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 52 subfamily A member 5 Neighboring gene hereditary persistence of fetal hemoglobin-1 and -2 3' breakpoint enhancers Neighboring gene olfactory receptor family 52 subfamily A member 1 Neighboring gene olfactory receptor family 51 subfamily A member 1 pseudogene Neighboring gene olfactory receptor family 52 subfamily Z member 1 pseudogene Neighboring gene hereditary persistence of fetal hemoglobin-3 3' breakpoint enhancer Neighboring gene olfactory receptor family 51 subfamily V member 1

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. Phenotypic expression of Hb F in common high Hb F determinants in Thailand: roles of α-thalassemia, 5' δ-globin BCL11A binding region and 3' β-globin enhancer. Prakobkaew N, et al. Eur J Haematol, 2014 Jan. PMID 24112054
  2. Molecular cloning of the breakpoints of the hereditary persistence of fetal hemoglobin type-6 (HPFH-6) deletion and sequence analysis of the novel juxtaposed region from the 3' end of the beta-globin gene cluster. Kosteas T, et al. Hum Genet, 1997 Sep. PMID 9272169
  3. A sequence with homology to human HPFH-linked enhancer elements and to a family of G-protein linked membrane receptor genes is located downstream of the chicken beta-globin locus. Staines DM, et al. Gene, 1999 Jul 8. PMID 10395908
  4. Molecular basis of hereditary persistence of fetal hemoglobin. Forget BG. Ann N Y Acad Sci, 1998 Jun 30. PMID 9668525
  5. Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences. Katsantoni EZ, et al. Blood, 2003 Nov 1. PMID 12855570

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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Other Names

  • HPFH-6 enhancer

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_053095.1 

    Range
    101..1577
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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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    5170745..5172221
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    5230102..5231578
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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