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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
    NEW
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    Try the new Transcript table

    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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