LOC108783649 AMH 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108783649
Gene description: AMH 5' regulatory region
Gene type: biological region
Feature type(s): protein_bind
regulatory: enhancer, promoter, response_element
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This locus represents the 5' regulatory region of the anti-Mullerian hormone (AMH) gene and includes the proximal promoter as well as more distal regulatory elements. The proximal promoter is regulated by binding of nuclear receptor subfamily 5 group A member 1 (Nr5a1/Sf1) to a conserved recognition site. SRY-box 9, sex determining region Y, forkhead box L2, and GATA binding protein 4 may synergize with Nr5a1/Sf1 to increase gene expression, while binding by Wilms tumor 1 results in repression of activity. This region is stimulated by signalling by bone morphogenetic proteins, vitamin D, estrogen, and protein kinase A/cyclic AMP. A subregion was also shown to be an enhancer by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Orthologs: mouse all
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Genomic context

Location:: chromosome: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (2246334..2249405)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (2219898..2223048)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (2246333..2249331)

Chromosome 19 - NC_000019.10 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

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

ATAC-STARR-seq lymphoblastoid active region 13667
H3K4me1 hESC enhancer GRCh37_chr19:2246709-2247210

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.