Mitf mitf [Drosophila melanogaster (fruit fly)] - Gene

Summary

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: all
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Genomic context

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_004353.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

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

NC_004353.4 Reference assembly

Range

1198852..1224467

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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