LOC111832670 alpha fetoprotein (AFP) 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC111832670
Gene description: alpha fetoprotein (AFP) 5' regulatory region
Gene type: biological region
Feature type(s): misc_feature: sequence_alteration
protein_bind
regulatory: TATA_box, enhancer, promoter, silencer, transcriptional_cis_regulatory_region
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 region encompasses the promoter and associated regulatory regions of the alpha fetoprotein (AFP) gene. Multiple enhancer elements and negative regulatory regions have been characterized upstream of the core promoter region. These elements are regulated by binding of zinc finger homeobox 3 (ATBF1/Zfhx3), HNF1 homeobox A, and CCAAT/enhancer binding proteins to defined binding sites in this sequence. Activity of this region is induced by glucocorticoids and repressed by transforming growth factor beta signalling, Hras oncogene, and tumor protein p53. A rare mutation in the proximal promoter increases HNF1 binding and is linked to increased AFP expression. [provided by RefSeq, Feb 2018]
Orthologs: mouse all
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Genomic context

Location:: 4q13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (73430193..73436247)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (76773903..76779969)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (74295910..74301964)

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

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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.