LOC110408762 CYP17A1 promoter [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC110408762
Gene description: CYP17A1 promoter
Gene type: biological region
Feature type(s): protein_bind
regulatory: promoter
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 the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene. This promoter is induced by cyclic AMP and is regulated by binding of nuclear factor I, nuclear receptor subfamily 5 group A family members (e.g. Sf1/Lrh1), Sp1/3 transcription factors, and GATA binding proteins to defined recognition sites in this sequence. Signaling through transforming growth factor beta inhibits promoter activity. A polymorphism in the proximal promoter region (rs140012815) has been implicated by some studies in the risk of several reproductive hormone-related conditions, including polycystic ovarian syndrome and prostate cancer; however, these genetic associations were not confirmed in other studies or metastudies. [provided by RefSeq, Jun 2017]
Orthologs: mouse all
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Genomic context

Location:: chromosome: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (102837373..102838185)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (103723158..103723970)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (104597130..104597942)

Chromosome 10 - NC_000010.11 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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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.