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Mitf mitf [ Drosophila melanogaster (fruit fly) ]

Gene ID: 3885647, updated on 9-Dec-2024

Summary

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Official Symbol
Mitfprovided by FlyBase
Official Full Name
mitfprovided by FlyBase
Primary source
FLYBASE:FBgn0263112
Locus tag
Dmel_CG43369
See related
AllianceGenome:FB:FBgn0263112
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Drosophila melanogaster
Lineage
Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as
CG17469; CG40476; CG41130; CG43369; Dmel\CG43369; dMitf; mitf; MitF; MITF; TFEB
Old locus tag
Dmel_CG17469; Dmel_CG41130
Summary
Enables sequence-specific DNA binding activity. Involved in several processes, including lysosome organization; positive regulation of DNA-templated transcription; and positive regulation of autophagosome maturation. Predicted to be active in nucleus. Is expressed in several structures, including anlage in statu nascendi; antennal anlage; antennal primordium; ganglia; and head epidermis primordium. Used to study lysosomal storage disease. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg syndrome (multiple); familial melanoma; and renal cell carcinoma. Orthologous to several human genes including MITF (melanocyte inducing transcription factor); TFEB (transcription factor EB); and TFEC (transcription factor EC). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs
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Genomic context

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See Mitf in Genome Data Viewer
Location:
102F8-102F8; 4-0 cM
Exon count:
10
Annotation release Status Assembly Chr Location
Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 4 NC_004353.4 (1198852..1224467)
Release 5.57 previous assembly Release 5 (GCF_000001215.2) 4 NC_004353.3 (1219478..1228193)

Chromosome 4 - NC_004353.4Genomic Context describing neighboring genes Neighboring gene pleiohomeotic Neighboring gene uncharacterized protein Neighboring gene Phosphatidylinositol 5-phosphate 4-kinase Neighboring gene Dual-specificity tyrosine phosphorylation-regulated kinase 3 Neighboring gene Calcium-dependent secretion activator

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. Ouabain activates transcription factor EB and exerts neuroprotection in models of Alzheimer's disease. Song HL, et al. Mol Cell Neurosci, 2019 Mar. PMID 30594669
  2. Evolutionary sequence comparison of the Mitf gene reveals novel conserved domains. Hallsson JH, et al. Pigment Cell Res, 2007 Jun. PMID 17516926
  3. Cell cycle inhibitor p21/ WAF1/ CIP1 as a cofactor of MITF expression in melanoma cells. Sestáková B, et al. Pigment Cell Melanoma Res, 2010 Apr. PMID 20067556
  4. The basic helix-loop-helix leucine zipper transcription factor Mitf is conserved in Drosophila and functions in eye development. Hallsson JH, et al. Genetics, 2004 May. PMID 15166150, Free PMC Article
  5. The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease. Kinghorn KJ, et al. Neural Regen Res, 2017 Mar. PMID 28469644, Free PMC Article

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. lysosomal-associated functions regulated by the TFEB-V-ATPase axis might play a conserved role in shaping cell fate.
    Title: Control of lysosomal biogenesis and Notch-dependent tissue patterning by components of the TFEB-V-ATPase axis in Drosophila melanogaster.
  2. Mitf regulates the expression of genes encoding V-ATPase subunits as well as many additional genes involved in the lysosomal-autophagy pathway.
    Title: Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway.
  3. evidence points to an ancient module comprising Mitf, v-ATPase and TORC1 that serves as a dynamic modulator of metabolism for cellular homeostasis.
    Title: Mitf is a master regulator of the v-ATPase, forming a control module for cellular homeostasis with v-ATPase and TORC1.
  4. The MITF is a transcription factor which plays a central role in the expression of melanocyte-specific genes.
    Title: Cell cycle inhibitor p21/ WAF1/ CIP1 as a cofactor of MITF expression in melanoma cells.
  5. Mitf is conserved in Drosophila and functions in eye development
    Title: The basic helix-loop-helix leucine zipper transcription factor Mitf is conserved in Drosophila and functions in eye development.
  6. analysis of the Mitf gene reveals novel conserved domains in human, mouse and Drosophila
    Title: Evolutionary sequence comparison of the Mitf gene reveals novel conserved domains.
Submit: New GeneRIF Correction

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by FlyBase

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to starvation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in compound eye morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lipid catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lysosome organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
mitf
Names
CG43369-PA
CG43369-PB
CG43369-PC
CG43369-PD
Mitf-PA
Mitf-PB
Mitf-PC
Mitf-PD

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

  1. NC_004353.4 Reference assembly

    Range
    1198852..1224467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001038719.2 → NP_001033808.1  mitf, isoform A [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_001033808.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    Q6WSQ9
    Conserved Domains (2) summary
    cd00083
    Location:398 → 463
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam15951
    Location:158 → 197
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  2. NM_001258508.2 → NP_001245437.1  mitf, isoform D [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_001245437.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    H9XVQ2
    Conserved Domains (2) summary
    cd00083
    Location:372 → 437
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam15951
    Location:158 → 197
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  3. NM_001038718.2 → NP_001033807.1  mitf, isoform B [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_001033807.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    Q6WSQ9
    Conserved Domains (2) summary
    cd00083
    Location:398 → 463
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam15951
    Location:158 → 197
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  4. NM_001258507.1 → NP_001245436.1  mitf, isoform C [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_001245436.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    C3KGP2
    Conserved Domains (2) summary
    cd00083
    Location:505 → 570
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam15951
    Location:272 → 311
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
C3KGP2 C3KGP2
H9XVQ2 H9XVQ2
Q6WSQ9 Q6WSQ9

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