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

Gene ID: 17342, updated on 6-Jul-2021

Summary

Official Symbol
Mitfprovided by MGI
Official Full Name
melanogenesis associated transcription factorprovided by MGI
Primary source
MGI:MGI:104554
See related
Ensembl:ENSMUSG00000035158
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
m; Wh; bw; mi; vit; BCC2; Gsfbcc; bHLHe3; 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
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Genomic context

See Mitf in Genome Data Viewer
Location:
6 D3; 6 45.05 cM
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (97783966..97998321)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (97807002..98021360)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (97757052..97971352)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 24565 Neighboring gene predicted gene, 23703 Neighboring gene ribosomal protein S27 pseudogene Neighboring gene predicted gene, 53321 Neighboring gene predicted gene, 53320 Neighboring gene VISTA enhancer mm60

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 Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC124309, MGC124310

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
enables E-box binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein dimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within bone remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within camera-type eye development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within canonical Wnt signaling pathway involved in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in melanocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within melanocyte differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within melanocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within osteoclast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within pigmentation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within pigmentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription, initiation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
involved_in protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of RNA biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of osteoclast differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within regulation of osteoclast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
involved_in transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IC
Inferred by Curator
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of 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)

NEW Try the new Transcript table

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
    ENSMUSP00000044938.8, ENSMUST00000043637.14
    Conserved Domains (3) summary
    cd18926
    Location:300403
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    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
    ENSMUSP00000098683.4, ENSMUST00000101123.10
    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
    ENSMUSP00000044459.7, ENSMUST00000043628.13
    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 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    97783966..97998321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036165905.1XP_036021798.1  microphthalmia-associated transcription factor isoform X11

    Conserved Domains (3) summary
    cd18926
    Location:164267
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    pfam11851
    Location:261386
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:56118
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  2. XM_006505685.4XP_006505748.1  microphthalmia-associated transcription factor isoform X2

    Related
    ENSMUSP00000145132.2, ENSMUST00000203884.3
    Conserved Domains (3) summary
    cd18926
    Location:294397
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    pfam11851
    Location:391516
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:56194
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  3. XM_006505684.3XP_006505747.1  microphthalmia-associated transcription factor isoform X1

    Conserved Domains (3) summary
    pfam11851
    Location:396521
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:55193
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    cd18926
    Location:299402
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
  4. XM_030255210.2XP_030111070.1  microphthalmia-associated transcription factor isoform X3

    Conserved Domains (3) summary
    pfam11851
    Location:390515
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:55193
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    cd18926
    Location:293396
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
  5. XM_030255212.2XP_030111072.1  microphthalmia-associated transcription factor isoform X8

    Conserved Domains (3) summary
    cd18926
    Location:248351
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    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_030255214.2XP_030111074.1  microphthalmia-associated transcription factor isoform X9

    Conserved Domains (3) summary
    pfam11851
    Location:339464
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:4142
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    cd18926
    Location:242345
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
  7. XM_036165908.1XP_036021801.1  microphthalmia-associated transcription factor isoform X13

    Conserved Domains (3) summary
    cd18926
    Location:126229
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    pfam11851
    Location:223348
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:126
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  8. XM_030255213.2XP_030111073.1  microphthalmia-associated transcription factor isoform X8

    Conserved Domains (3) summary
    cd18926
    Location:248351
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    pfam11851
    Location:345470
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:4142
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  9. XM_006505692.5XP_006505755.1  microphthalmia-associated transcription factor isoform X8

    See identical proteins and their annotated locations for XP_006505755.1

    Conserved Domains (3) summary
    cd18926
    Location:248351
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    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_006505691.5XP_006505754.1  microphthalmia-associated transcription factor isoform X6

    Conserved Domains (3) summary
    pfam11851
    Location:369494
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:28166
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    cd18926
    Location:272375
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
  11. XM_017321428.3XP_017176917.1  microphthalmia-associated transcription factor isoform X7

    Conserved Domains (3) summary
    pfam11851
    Location:368493
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:27165
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    cd18926
    Location:271374
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
  12. XM_030255211.2XP_030111071.1  microphthalmia-associated transcription factor isoform X5

    Conserved Domains (3) summary
    pfam11851
    Location:375500
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:40178
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    cd18926
    Location:278381
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
  13. XM_006505689.5XP_006505752.1  microphthalmia-associated transcription factor isoform X4

    Conserved Domains (3) summary
    pfam11851
    Location:380505
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:39177
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    cd18926
    Location:283386
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
  14. XM_006505694.1XP_006505757.1  microphthalmia-associated transcription factor isoform X8

    See identical proteins and their annotated locations for XP_006505757.1

    Related
    ENSMUSP00000108965.2, ENSMUST00000113339.8
    Conserved Domains (3) summary
    cd18926
    Location:248351
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    pfam11851
    Location:345470
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:4142
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  15. XM_036165907.1XP_036021800.1  microphthalmia-associated transcription factor isoform X12

    Conserved Domains (3) summary
    cd18926
    Location:132235
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    pfam11851
    Location:229354
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:126
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  16. XM_036165906.1XP_036021799.1  microphthalmia-associated transcription factor isoform X12

    Conserved Domains (3) summary
    cd18926
    Location:132235
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    pfam11851
    Location:229354
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:126
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
  17. XM_006505695.5XP_006505758.1  microphthalmia-associated transcription factor isoform X10

    UniProtKB/Swiss-Prot
    Q08874
    Related
    ENSMUSP00000144988.2, ENSMUST00000203938.2
    Conserved Domains (3) summary
    pfam11851
    Location:284409
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:1187
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    cd18926
    Location:187290
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
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