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LOC107988030 MITF-M promoter region [ Homo sapiens (human) ]

Gene ID: 107988030, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107988030
Gene description
MITF-M promoter region
Gene type
biological region
Feature type(s)
protein_bind
regulatory: promoter, transcriptional_cis_regulatory_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 the promoter of the melanocyte-specific transcript variant of the melanogenesis associated transcription factor gene (MITF-M). Expression is stimulated by binding of lymphoid enhancer binding factor 1 in a complex with catenin beta 1 and melanogenesis associated transcription factor. This promoter contains several binding sites for SRY-box 10 which mediate upregulation and may synergize with binding of paired box 3. Additional proteins, including POU class 3 homeobox 2, one cut homeobox 2, and histidine triad nucleotide binding protein 1, also regulate expression of this region. [provided by RefSeq, Jun 2016]
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Genomic context

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See LOC107988030 in Genome Data Viewer
Location:
chromosome: 3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (69934398..69936727)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (69971351..69973680)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (69983549..69985878)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene FERM domain containing 4B Neighboring gene NANOG hESC enhancer GRCh37_chr3:69655392-69655947 Neighboring gene H1-8 pseudogene 1 Neighboring gene NFE2L2 motif-containing MPRA enhancer 231 Neighboring gene MITF-A promoter region Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:69818568-69819767 Neighboring gene RNA, 7SL, cytoplasmic 418, pseudogene Neighboring gene MITF-H promoter region Neighboring gene melanocyte inducing transcription factor Neighboring gene MITF-M distal enhancer Neighboring gene survival associated mitochondrial melanoma specific oncogenic non-coding RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20057 Neighboring gene RNA binding region (RNP1, RRM) containing 3 pseudogene 1 Neighboring gene ubiquinol-cytochrome c reductase hinge protein pseudogene 4

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. Inhibition of oncogenic BRAF activity by indole-3-carbinol disrupts microphthalmia-associated transcription factor expression and arrests melanoma cell proliferation. Kundu A, et al. Mol Carcinog, 2017 Jan. PMID 26878440, Free PMC Article
  2. Repression of the melanocyte-specific promoter of the microphthalmia-associated transcription factor by the adenoviral E1A 12S oncoprotein. Drdová B, et al. Folia Biol (Praha), 2004. PMID 15581068
  3. Involvement of ITF2 in the transcriptional regulation of melanogenic genes. Furumura M, et al. J Biol Chem, 2001 Jul 27. PMID 11382753
  4. Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. Lee M, et al. J Biol Chem, 2000 Dec 1. PMID 10973953
  5. Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. Verastegui C, et al. J Biol Chem, 2000 Oct 6. PMID 10938265

See all (33) 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)

General gene information

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Other Names

  • MITF melanocyte specific promoter

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_050802.1 

    Range
    101..2430
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    69934398..69936727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    69971351..69973680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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