LOC110283621 SPP1 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC110283621
Gene description: SPP1 5' regulatory region
Gene type: biological region
Feature type(s): protein_bind
regulatory: enhancer, promoter, 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 region represents the promoter of secreted phosphoprotein 1 (SPP1), also known as osteopontin. This promoter is regulated by binding of runt related transcription factors, MYC proto-oncogene, and AP-1 family factors. This region contains several common polymorphisms (including rs11730582, rs11439060, and rs28357094) that can affect promoter activity and are associated with the risk of cancer, hepatitis C, and other diseases. This sequence also includes the first intron of the SPP1 gene, which contains nuclear factor kappa B and CCAAT/enhancer binding protein sites that positively regulate promoter activity. A subregion was also shown to be an enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive and primed human embryonic stem cells, where it is marked by the H3K27ac histone modification. [provided by RefSeq, Dec 2022]
Orthologs: mouse all
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Genomic context

Location:: chromosome: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (87973468..87976881)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (91299956..91303372)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (88894620..88898033)

Chromosome 4 - NC_000004.12 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

What's a GeneRIF?

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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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Other Names

H3K27ac hESC enhancer GRCh37_chr4:88896507-88897006
osteopontin promoter

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.