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MITF melanocyte inducing transcription factor [ Sus scrofa (pig) ]

Gene ID: 414902, updated on 3-Dec-2024

Summary

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Official Symbol
MITFprovided by VGNC
Official Full Name
melanocyte inducing transcription factorprovided by VGNC
Primary source
VGNC:VGNC:90243
See related
Ensembl:ENSSSCG00000011514
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Sus scrofa
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Suina; Suidae; Sus
Expression
Ubiquitous expression in heart (RPKM 5.0), subcutaneous adipose (RPKM 2.2) and 8 other tissues See more
Orthologs
human mouse all
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Genomic context

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See MITF in Genome Data Viewer
Location:
chromosome: 13
Exon count:
14
Annotation release Status Assembly Chr Location
106 current Sscrofa11.1 (GCF_000003025.6) 13 NC_010455.5 (51177356..51422096)
105 previous assembly Sscrofa10.2 (GCF_000003025.5) 13 NC_010455.4 (56593519..56594255, complement)

Chromosome 13 - NC_010455.5Genomic Context describing neighboring genes Neighboring gene FERM domain containing 4B Neighboring gene uncharacterized LOC110256517 Neighboring gene uncharacterized LOC110256268 Neighboring gene MyoD family inhibitor domain containing 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Transcriptome data used for gene annotation
  • Description: Nine kinds of tissues and a mixture of multiple tissues were sequenced for genome annotation
  • BioProject: PRJNA311523
  • Publication: PMID 27646534
  • Analysis date: Thu Dec 14 17:10:49 2017

Bibliography

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Related articles in PubMed

  1. A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs. Chen L, et al. BMC Biol, 2016 Jun 27. PMID 27349893, Free PMC Article
  2. Genetic and functional evaluation of MITF as a candidate gene for cutaneous melanoma predisposition in pigs. Bourneuf E, et al. Mamm Genome, 2011 Oct. PMID 21626174
  3. Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis. Hai T, et al. Hum Genet, 2017 Nov. PMID 29094203
  4. Sequencing, mapping and nucleotide variation of porcine coat colour genes EDNRB, MYO5A, KITLG, SLC45A2, RAB27A, SILV and MITF. Okumura N, et al. Anim Genet, 2006 Feb. PMID 16441305
  5. PEDE (Pig EST Data Explorer) has been expanded into Pig Expression Data Explorer, including 10 147 porcine full-length cDNA sequences. Uenishi H, et al. Nucleic Acids Res, 2007 Jan. PMID 17145712, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutations in MITF gene is associated with Waardenburg syndrome type 2A .
    Title: Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.
  2. Elimination of the MITF-M isoform alone is sufficient to cause deafness and depigmentation.
    Title: A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs.
  3. Although MITF does not seem to be the causal gene of the QTL initially observed, it can not be excluded that a prominent role of its transcription and function in the outbreak and evolution of the tumors observed in pigs.
    Title: Genetic and functional evaluation of MITF as a candidate gene for cutaneous melanoma predisposition in pigs.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
microphthalmia-associated transcription factor
Names
melanogenesis associated transcription factor
microphtalmia-associated transcription factor

NCBI Reference Sequences (RefSeq)

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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_001038001.2 → NP_001033090.1  microphthalmia-associated transcription factor isoform 3

    See identical proteins and their annotated locations for NP_001033090.1

    Status: VALIDATED

    Source sequence(s)
    AEMK02000086
    UniProtKB/TrEMBL
    A0A4X1V9Y0, A0A8D0WSB6, A0A8D1D803, Q4LE87
    Related
    ENSSSCP00000068733.1, ENSSSCT00000078093.2
    Conserved Domains (3) summary
    cd00083
    Location:196 → 256
    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:284 → 397
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:11 → 87
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  2. NM_001315782.2 → NP_001302711.2  microphthalmia-associated transcription factor isoform 2

    Status: VALIDATED

    Source sequence(s)
    AEMK02000086
    UniProtKB/TrEMBL
    A0A8D0WN30, A0A8D1BHD2, A0A8D1UQM7, D2JUK2, I3LTE0

  3. NM_001425284.1 → NP_001412213.1  microphthalmia-associated transcription factor isoform 1

    Status: VALIDATED

    Source sequence(s)
    AEMK02000086
    UniProtKB/TrEMBL
    A0A0B8RSL1, A0A287B431, A0A8D0WS60, A0A8D1D7M8, A0A8D1RBX1

RefSeqs of Annotated Genomes: Sus scrofa Annotation Release 106 details...Open this link in a new tab

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

Reference Sscrofa11.1 Primary Assembly

Genomic

  1. NC_010455.5 Reference Sscrofa11.1 Primary Assembly

    Range
    51177356..51422096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_021068590.1 → XP_020924249.1  microphthalmia-associated transcription factor isoform X8

    UniProtKB/TrEMBL
    A0A8D1A1T9
    Conserved Domains (3) summary
    cd00083
    Location:257 → 317
    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:345 → 464
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:4 → 142
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  2. XM_021068591.1 → XP_020924250.1  microphthalmia-associated transcription factor isoform X9

    UniProtKB/TrEMBL
    A0A8D1UQN8
    Conserved Domains (3) summary
    cd00083
    Location:253 → 313
    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:341 → 460
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:56 → 138
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  3. XM_021068583.1 → XP_020924242.1  microphthalmia-associated transcription factor isoform X1

    UniProtKB/TrEMBL
    A0A4X1V9W8, D2JUK1
    Conserved Domains (3) summary
    cd00083
    Location:309 → 369
    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:397 → 516
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:56 → 194
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  4. XM_021068592.1 → XP_020924251.1  microphthalmia-associated transcription factor isoform X10

    UniProtKB/TrEMBL
    A0A8D1UQN8
    Conserved Domains (3) summary
    cd00083
    Location:233 → 293
    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:321 → 440
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:56 → 118
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  5. XM_021068584.1 → XP_020924243.1  microphthalmia-associated transcription factor isoform X2

    UniProtKB/TrEMBL
    A0A4X1V9W8
    Conserved Domains (3) summary
    cd00083
    Location:308 → 368
    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:396 → 515
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:55 → 193
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  6. XM_021068585.1 → XP_020924244.1  microphthalmia-associated transcription factor isoform X3

    Related
    ENSSSCP00000051180.1, ENSSSCT00000046150.2
    Conserved Domains (3) summary
    cd00083
    Location:303 → 363
    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:391 → 510
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:56 → 194
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  7. XM_021068587.1 → XP_020924246.1  microphthalmia-associated transcription factor isoform X5

    UniProtKB/TrEMBL
    A0A8D0WN30, A0A8D1BHD2, D2JUK2
    Conserved Domains (3) summary
    cd00083
    Location:292 → 352
    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:380 → 499
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:39 → 177
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  8. XM_021068586.1 → XP_020924245.1  microphthalmia-associated transcription factor isoform X4

    Related
    ENSSSCP00000027385.2, ENSSSCT00000025535.4
    Conserved Domains (3) summary
    cd00083
    Location:293 → 353
    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:381 → 500
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:40 → 178
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  9. XM_021068589.1 → XP_020924248.1  microphthalmia-associated transcription factor isoform X7

    UniProtKB/TrEMBL
    A0A8D1UQW3
    Conserved Domains (3) summary
    cd00083
    Location:278 → 338
    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:366 → 485
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:25 → 163
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  10. XM_021068588.1 → XP_020924247.1  microphthalmia-associated transcription factor isoform X6

    UniProtKB/TrEMBL
    A0A8D0WN30, A0A8D1BHD2, D2JUK2
    Conserved Domains (3) summary
    cd00083
    Location:287 → 347
    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:375 → 494
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:40 → 178
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  11. XM_013981884.2 → XP_013837338.2  microphthalmia-associated transcription factor isoform X11

    UniProtKB/TrEMBL
    A0A4X1V9Y0, A0A8D0WSB6, A0A8D1D803, A0A8D1UQU3, D2JUK3
    Related
    ENSSSCP00000012271.2, ENSSSCT00000012600.2
    Conserved Domains (3) summary
    cd00083
    Location:202 → 262
    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:290 → 409
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:11 → 87
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  12. XM_021068593.1 → XP_020924252.1  microphthalmia-associated transcription factor isoform X12

    UniProtKB/TrEMBL
    A0A4X1V9Y0, A0A8D0WSB6, A0A8D1D803
    Conserved Domains (3) summary
    cd00083
    Location:140 → 200
    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:228 → 347
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:11 → 31
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
Nucleotide Protein
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