LOC106804613 hemoglobin subunit alpha 1 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106804613
Gene description: hemoglobin subunit alpha 1 recombination region
Gene type: biological region
Feature type(s): misc_recomb: non_allelic_homologous
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the hemoglobin subunit alpha 2 (HBA2) recombination region, located about 900 bp centromere-distal to this region, in direct orientation on the reference genome. Genomic rearrangements including duplications and deletions of the intervening sequence as a result of NAHR between these recombination regions have been observed. Unequal crossing-over between repeats sharing high sequence similarity can produce 3.7 kb and 4.2 kb deletions, resulting in alpha-thalassemia caused by a hemoglobin subunit alpha gene deletion. Regions of shared similarity with the HBA2 recombination region are subdivided into regions known as the X box, Y box and Z box (X1, Y1 and Z1 boxes for the HBA1 recombination region). Recombination between X box regions results in the 4.2 kb deletion, while recombination between Z box regions results in the 3.7 kb deletion. Recombination events between Y box regions has also been observed. Other deletions causing alpha-thalassemias have also been reported, but many of these deletions are not the result of homologous recombination between regions sharing high sequence similarity, and are not represented here. [provided by RefSeq, Oct 2016]
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Genomic context

Location:: 16p13.3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (174618..177541)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (168660..171583)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (224617..227540)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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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

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General gene information

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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.