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Mitf melanogenesis associated transcription factor [ Mus musculus (house mouse) ]

Gene ID: 17342, updated on 7-Oct-2018

Summary

Official Symbol
Mitfprovided by MGI
Official Full Name
melanogenesis associated transcription factorprovided by MGI
Primary source
MGI:MGI:104554
See related
Ensembl:ENSMUSG00000035158 Vega:OTTMUSG00000023284
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Wh; bw; mi; vit; BCC2; Bhlhe32; Gsfbcc2; Vitiligo
Summary
This transcription factor serves at a critical point between extracellular signaling and downstream targets in cell specification in early eye and neural crest development. Mutant alleles have been identified that generate distinct phenotypes. Some of these alleles are being used to model the human diseases Waardenburg syndrome IIa and Tietz syndrome. [provided by RefSeq, Jul 2008]
Expression
Biased expression in placenta adult (RPKM 9.0), heart adult (RPKM 4.3) and 12 other tissues See more
Orthologs

Genomic context

See Mitf in Genome Data Viewer
Location:
6 D3; 6 45.05 cM
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 6 NC_000072.6 (97807002..98021360)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (97757052..97971352)

Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene FERM domain containing 4B Neighboring gene predicted gene, 32247 Neighboring gene predicted gene, 32481 Neighboring gene ribosomal protein S27 pseudogene Neighboring gene predicted gene, 32592 Neighboring gene predicted gene, 32535 Neighboring gene predicted gene 765

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from BioSystems

  • Kit Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Kit Receptor Signaling Pathway, organism-specific biosystemKit is a receptor protein tyrosine kinase, which is a receptor for stem cell factor or kit ligand. Signaling through Kit is important for formation of red cells, lymphocytes, mast cells and platelets...
  • Melanogenesis, organism-specific biosystem (from KEGG)
    Melanogenesis, organism-specific biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
  • Melanogenesis, conserved biosystem (from KEGG)
    Melanogenesis, conserved biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
  • Melanoma, organism-specific biosystem (from KEGG)
    Melanoma, organism-specific biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Melanoma, conserved biosystem (from KEGG)
    Melanoma, conserved biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • Mitophagy - animal, organism-specific biosystem (from KEGG)
    Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Mitophagy - animal, conserved biosystem (from KEGG)
    Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Osteoclast differentiation, organism-specific biosystem (from KEGG)
    Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Osteoclast differentiation, conserved biosystem (from KEGG)
    Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • PluriNetWork, organism-specific biosystem (from WikiPathways)
    PluriNetWork, organism-specific biosystemThe aim of the PluriNetWork is to give an overview of specific mechanisms associated with pluripotency in mouse. Each node represents a gene and its corresponding protein product. As stated, we inten...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
    SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • SUMOylation of transcription factors, organism-specific biosystem (from REACTOME)
    SUMOylation of transcription factors, organism-specific biosystemcomputationally inferred pathway (not manually curated)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC124309, MGC124310

Gene Ontology Provided by MGI

Process Evidence Code Pubs
Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
bone remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
camera-type eye development IGI
Inferred from Genetic Interaction
more info
PubMed 
canonical Wnt signaling pathway involved in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
melanocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanocyte differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
osteoclast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
pigmentation IGI
Inferred from Genetic Interaction
more info
PubMed 
pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of DNA-templated transcription, initiation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
 
regulation of RNA biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of osteoclast differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of osteoclast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISO
Inferred from Sequence Orthology
more info
 
protein-containing complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
microphthalmia-associated transcription factor
Names
black eyed white
microphtalmia-associated transcription factor

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001113198.1NP_001106669.1  microphthalmia-associated transcription factor isoform 1

    See identical proteins and their annotated locations for NP_001106669.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as Mitf-A).
    Source sequence(s)
    AC131676, AC157098, AC158650
    Consensus CDS
    CCDS51861.1
    UniProtKB/Swiss-Prot
    Q08874
    Related
    ENSMUSP00000044938.7, OTTMUSP00000027089, ENSMUST00000043637.13, OTTMUST00000056376
    Conserved Domains (3) summary
    cd00083
    Location:309369
    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, ...
    pfam11851
    Location:397522
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:56194
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  2. NM_001178049.1NP_001171520.1  microphthalmia-associated transcription factor isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3, also known as Mitf-H) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC157098, AC158650, AK052895, CF733424
    Consensus CDS
    CCDS51862.1
    UniProtKB/TrEMBL
    Q8C6Y4
    Related
    ENSMUSP00000098683.3, OTTMUSP00000027090, ENSMUST00000101123.9, OTTMUST00000056378
    Conserved Domains (3) summary
    cd00083
    Location:293353
    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, ...
    pfam11851
    Location:381506
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:40178
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  3. NM_008601.3NP_032627.1  microphthalmia-associated transcription factor isoform 2

    See identical proteins and their annotated locations for NP_032627.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2, also known as Mitf-M) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC158650, BC108976, BY152267
    Consensus CDS
    CCDS20385.1
    UniProtKB/Swiss-Prot
    Q08874
    UniProtKB/TrEMBL
    Q32MU7
    Related
    ENSMUSP00000044459.6, OTTMUSP00000027092, ENSMUST00000043628.12, OTTMUST00000056381
    Conserved Domains (3) summary
    cd00083
    Location:202262
    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, ...
    pfam11851
    Location:290415
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:1187
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000072.6 Reference GRCm38.p4 C57BL/6J

    Range
    97807002..98021360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006505685.3XP_006505748.1  microphthalmia-associated transcription factor isoform X2

    Related
    ENSMUSP00000145132.1, OTTMUSP00000073971, ENSMUST00000203884.2, OTTMUST00000141589
    Conserved Domains (3) summary
    cd00083
    Location:303363
    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, ...
    pfam11851
    Location:391516
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:56194
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  2. XM_006505684.2XP_006505747.1  microphthalmia-associated transcription factor isoform X1

    Conserved Domains (3) summary
    cd00083
    Location:308368
    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, ...
    pfam11851
    Location:396521
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:55193
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  3. XM_006505696.1XP_006505759.1  microphthalmia-associated transcription factor isoform X8

    Conserved Domains (3) summary
    cd00083
    Location:194254
    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, ...
    pfam11851
    Location:282407
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:479
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  4. XM_006505693.1XP_006505756.1  microphthalmia-associated transcription factor isoform X6

    See identical proteins and their annotated locations for XP_006505756.1

    Related
    ENSMUSP00000108965.1, OTTMUSP00000027091, ENSMUST00000113339.7, OTTMUST00000056380
    Conserved Domains (3) summary
    cd00083
    Location:257317
    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, ...
    pfam11851
    Location:345470
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:4142
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  5. XM_006505692.3XP_006505755.1  microphthalmia-associated transcription factor isoform X6

    See identical proteins and their annotated locations for XP_006505755.1

    Conserved Domains (3) summary
    cd00083
    Location:257317
    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, ...
    pfam11851
    Location:345470
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:4142
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  6. XM_006505691.3XP_006505754.1  microphthalmia-associated transcription factor isoform X4

    Conserved Domains (3) summary
    cd00083
    Location:281341
    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, ...
    pfam11851
    Location:369494
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:28166
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  7. XM_017321428.1XP_017176917.1  microphthalmia-associated transcription factor isoform X5

  8. XM_006505689.3XP_006505752.1  microphthalmia-associated transcription factor isoform X3

    Conserved Domains (3) summary
    cd00083
    Location:292352
    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, ...
    pfam11851
    Location:380505
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:39177
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  9. XM_006505694.1XP_006505757.1  microphthalmia-associated transcription factor isoform X6

    See identical proteins and their annotated locations for XP_006505757.1

    Conserved Domains (3) summary
    cd00083
    Location:257317
    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, ...
    pfam11851
    Location:345470
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:4142
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  10. XM_011241244.2XP_011239546.1  microphthalmia-associated transcription factor isoform X9

    Conserved Domains (3) summary
    cd00083
    Location:141201
    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, ...
    pfam11851
    Location:229354
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:126
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  11. XM_006505695.3XP_006505758.1  microphthalmia-associated transcription factor isoform X7

    UniProtKB/Swiss-Prot
    Q08874
    Related
    ENSMUSP00000144988.1, OTTMUSP00000073972, ENSMUST00000203938.1, OTTMUST00000141590
    Conserved Domains (3) summary
    cd00083
    Location:196256
    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, ...
    pfam11851
    Location:284409
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:1187
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
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