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LOC111258525 NOS1 1f and 1g alternate promoter region [ Homo sapiens (human) ]

Gene ID: 111258525, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111258525
Gene description
NOS1 1f and 1g alternate promoter region
Gene type
biological region
Feature type(s)
protein_bind
regulatory: TATA_box, promoter
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 represents one of several alternate promoter regions of the nitric oxide synthase 1 (NOS1) gene, also known as nNOS. This sequence includes two separable promoters for the 1f and 1g alternate 5' UTR exons. Activity of these promoters may be induced by POU class 2 homeobox 2 and nerve growth factor, and binding by nuclear factor kappa B and hypoxia inducible factor 1 alpha to sites in this sequence. A polymorphic dinucleotide repeat in the upstream 1f promoter has been observed to affect risk of neurological disorders such as Alzheimer's disease. [provided by RefSeq, Oct 2017]
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Genomic context

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Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (117361127..117363404)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (117342180..117344459)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (117798932..117801209)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:117580597-117581796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117645205-117645705 Neighboring gene F-box protein 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117657550-117658106 Neighboring gene MPRA-validated peak1985 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:117670646-117670812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117674691-117675195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117674186-117674690 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:117718941-117719440 Neighboring gene nitric oxide synthase 1 Neighboring gene elongin C pseudogene 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117826376-117826876 Neighboring gene NOS1 1c alternate promoter Neighboring gene uncharacterized LOC105370012 Neighboring gene Sharpr-MPRA regulatory region 11046 Neighboring gene kinase suppressor of ras 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:118021615-118022115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:118066292-118066792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:118066793-118067293 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:118078225-118078724 Neighboring gene uncharacterized LOC105370011 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:118274024-118274569

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. The untranslated region of exon 2 of the human neuronal nitric oxide synthase (NOS1) gene exerts regulatory activity. Bros M, et al. Gene, 2007 Dec 15. PMID 17949925
  2. Identification of nuclear factor-kappaB responsive element within the neuronal nitric oxide synthase exon 1f-specific promoter. Li Y, et al. Acta Biochim Biophys Sin (Shanghai), 2007 Apr. PMID 17417679
  3. Regulation of neuronal nitric oxide synthase exon 1f gene expression by nuclear factor-kappaB acetylation in human neuroblastoma cells. Li Y, et al. J Neurochem, 2007 Jun. PMID 17250678
  4. The 5'2 promoter of the neuronal nitric oxide synthase dual promoter complex mediates inducibility by nerve growth factor. Rife TK, et al. Brain Res Mol Brain Res, 2000 Feb 22. PMID 10686343
  5. Neuronal NOS: gene structure, mRNA diversity, and functional relevance. Wang Y, et al. Crit Rev Neurobiol, 1999. PMID 10223522

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

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

See Variation Viewer (GRCh37.p13)

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_055614.1 

    Range
    101..2378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    117361127..117363404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    117342180..117344459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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