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LOC111818957 Mthfr promoter region [ Mus musculus (house mouse) ]

Gene ID: 111818957, updated on 9-Aug-2024

Summary

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Gene symbol
LOC111818957
Gene description
Mthfr promoter region
Gene type
biological region
Feature type(s)
protein_bind
regulatory: promoter
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rr366818
Summary
This region encompasses the upstream and downstream promoters of the methylenetetrahydrofolate reductase (Mthfr) gene, and also overlaps the promoter region of the adjacent Clcn6 gene. The two distinct Mthfr promoters are able to direct gene expression in the brain and testis, though with slight differences in the precise tissue and developmental stage. Methylation of the corresponding region in human male reproductive cells is associated with infertility, and may also increase risk for preeclampsia and spontaneous abortion. This locus also includes a B cell regulatory element that was identified by FAIRE-seq (formaldehyde-assisted isolation of regulatory elements sequencing), and which was validated as an enhancer by STARR-seq (self-transcribing active regulatory region sequencing) in lipopolysaccharide-activated mouse splenic B cells. [provided by RefSeq, Oct 2023]
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Genomic context

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See LOC111818957 in Genome Data Viewer
Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (148122984..148125668)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (148038527..148041211)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene natriuretic peptide type A Neighboring gene chloride channel, voltage-sensitive 6 Neighboring gene STARR-seq mESC enhancer starr_12064 Neighboring gene NSA2 ribosome biogenesis homolog pseudogene Neighboring gene methylenetetrahydrofolate reductase Neighboring gene predicted gene 13201 Neighboring gene STARR-positive B cell enhancer ABC_E6283 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2, pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E4727 Neighboring gene STARR-seq mESC enhancer starr_12067 Neighboring gene angiotensin II, type I receptor-associated protein Neighboring gene STARR-seq mESC enhancer starr_12068

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation. Pickell L, et al. Mamm Genome, 2011 Dec. PMID 21769670
  2. Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency. Roy M, et al. J Cell Biochem, 2008 Oct 1. PMID 18615588, Free PMC Article
  3. The human and mouse methylenetetrahydrofolate reductase (MTHFR) genes: genomic organization, mRNA structure and linkage to the CLCN6 gene. Gaughan DJ, et al. Gene, 2000 Oct 31. PMID 11080594
  4. Regulatory studies of murine methylenetetrahydrofolate reductase reveal two major promoters and NF-kappaB sensitivity. Pickell L, et al. Biochim Biophys Acta, 2005 Nov 10. PMID 16274753
  5. Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1). Kornak U, et al. Biochim Biophys Acta, 1999 Oct 6. PMID 10500249

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Other Names

  • STARR-positive B cell enhancer ABC_E1044
  • regulatory region 366818

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.

Genomic

  1. NG_056204.1 

    Range
    101..2785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    148122984..148125668
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version