LOC107133510 origin of replication at HBB [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107133510
Gene description: origin of replication at HBB
Gene type: biological region
Feature type(s): regulatory: DNase_I_hypersensitive_site, matrix_attachment_region, replication_regulatory_region
rep_origin
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This region spans the HBB (hemoglobin subunit beta) gene and contains multiple sequences that can function as origins of DNA replication, both endogenously and in ectopic contexts. These origins replicate late in many cell types but early in cells that express hemoglobin, indicating that replication initiation in this region may depend on activity of the globin LCR (locus control region). Indeed, 3C chromatin capture analysis detected an interaction between this region and the HS2 element in the LCR (PMID:21690294), and both replication and transcription factors associate in a single multiprotein complex. Replication may also depend on association of this region with the nuclear matrix, as two scaffold/matrix attachment regions (S/MARs) are also found here. In addition, a DNase I hypersensitive site coincides with a core sequence important for origin activity. [provided by RefSeq, Jan 2016]
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Genomic context

Location:: 11p15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5222166..5229620)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5281534..5288993)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5243396..5250850)

Chromosome 11 - NC_000011.10 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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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.