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MITF melanocyte inducing transcription factor [ Bos taurus (domestic cattle) ]

Gene ID: 407219, updated on 27-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:31487
See related
BGD:BT10341; Ensembl:ENSBTAG00000006679
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Bos taurus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Orthologs
human mouse all
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Genomic context

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See MITF in Genome Data Viewer
Location:
chromosome: 22
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_12 current ARS-UCD2.0 (GCF_002263795.3) 22 NC_037349.1 (31614654..31843489, complement)

Chromosome 22 - NC_037349.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC104976682 Neighboring gene uncharacterized LOC132343544 Neighboring gene transfer RNA tryptophan (anticodon CCA) Neighboring gene transfer RNA serine (anticodon GGA) Neighboring gene FERM domain containing 4B Neighboring gene ras-related protein Rab-2B-like Neighboring gene leiomodin 3

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_037349.1 Chromosome 22 Reference ARS-UCD2.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Dominette sequence data
  • BioProject: PRJNA294306
  • Analysis date: Tue Dec 17 08:57:05 2024

Bibliography

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Related articles in PubMed

  1. White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF. Petersen JL, et al. Anim Genet, 2023 Aug. PMID 37062854
  2. A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted coat in Brown Swiss cattle. Hofstetter S, et al. Anim Genet, 2019 Feb. PMID 30506810
  3. A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. Philipp U, et al. PLoS One, 2011. PMID 22174915, Free PMC Article
  4. Linkage mapping of Microphthalmia-associated transcription factor to cattle chromosome 22. Strom SA, et al. Anim Genet, 2004 Jun. PMID 15147408
  5. Microphthalmia-associated transcription factor mutations are associated with white-spotted coat color in swamp buffalo. Yusnizar Y, et al. Anim Genet, 2015 Dec. PMID 26417640, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF.
    Title: White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF.
  2. rs722765315 in MITF represents the most likely causative variant for the white-spotting phenotype observed in Brown Swiss cattle
    Title: A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted coat in Brown Swiss cattle.
  3. Variability in the MITF gene clearly explained the differences between spotted and non-spotted cattle phenotypes but, at the same time, it is evident that this gene is not the only genetic factor determining piebaldism in two of the studied cattle breeds.
    Title: Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds.
  4. The objectives of this study were to characterize the phenotypes of German White Fleckvieh and to identify the mutation responsible for this newly detected phenotype in cattle using genome-wide association analyses and re-sequencing of MITF.
    Title: A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle.
Submit: New GeneRIF Correction

Pathways from PubChem

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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
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_001001150.2 → NP_001001150.1  microphthalmia-associated transcription factor isoform M-

    See identical proteins and their annotated locations for NP_001001150.1

    Status: PROVISIONAL

    Source sequence(s)
    AY398689
    UniProtKB/TrEMBL
    F1MCS8, Q6TGR1
    Related
    ENSBTAP00000059022.1, ENSBTAT00000080989.2
    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

RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2024_12

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

Reference ARS-UCD2.0 Primary Assembly

Genomic

  1. NC_037349.1 Reference ARS-UCD2.0 Primary Assembly

    Range
    31614654..31843489 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024982417.2 → XP_024838185.1  microphthalmia-associated transcription factor isoform X4

    UniProtKB/TrEMBL
    A0AAA9SVL5
    Conserved Domains (3) summary
    cd18926
    Location:293 → 396
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    pfam11851
    Location:390 → 509
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:55 → 193
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  2. XM_015459503.3 → XP_015314989.1  microphthalmia-associated transcription factor isoform X2

    UniProtKB/TrEMBL
    A0AAA9SVL5
    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

  3. XM_059879470.1 → XP_059735453.1  microphthalmia-associated transcription factor isoform X9

    UniProtKB/TrEMBL
    A0AAA9SVL5

  4. XM_059879469.1 → XP_059735452.1  microphthalmia-associated transcription factor isoform X8

    UniProtKB/TrEMBL
    A0AAA9SVL5

  5. XM_005222626.4 → XP_005222683.1  microphthalmia-associated transcription factor isoform X3

    See identical proteins and their annotated locations for XP_005222683.1

    UniProtKB/TrEMBL
    A0AAA9SVL5
    Related
    ENSBTAP00000089360.1, ENSBTAT00000109509.1
    Conserved Domains (3) summary
    cd18926
    Location:294 → 397
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    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

  6. XM_015459502.3 → XP_015314988.1  microphthalmia-associated transcription factor isoform X1

    UniProtKB/TrEMBL
    A0AAA9SVL5
    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

  7. XM_024982419.2 → XP_024838187.1  microphthalmia-associated transcription factor isoform X7

    UniProtKB/TrEMBL
    A0A3Q1MS52
    Conserved Domains (3) summary
    cd18926
    Location:248 → 351
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    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

  8. XM_015459508.3 → XP_015314994.1  microphthalmia-associated transcription factor isoform X7

    UniProtKB/TrEMBL
    A0A3Q1MS52
    Conserved Domains (3) summary
    cd18926
    Location:248 → 351
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    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

  9. XM_024982418.2 → XP_024838186.1  microphthalmia-associated transcription factor isoform X7

    UniProtKB/TrEMBL
    A0A3Q1MS52
    Conserved Domains (3) summary
    cd18926
    Location:248 → 351
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    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

  10. XM_059879466.1 → XP_059735449.1  microphthalmia-associated transcription factor isoform X7

    UniProtKB/TrEMBL
    A0A3Q1MS52

  11. XM_059879465.1 → XP_059735448.1  microphthalmia-associated transcription factor isoform X7

    UniProtKB/TrEMBL
    A0A3Q1MS52

  12. XM_059879471.1 → XP_059735454.1  microphthalmia-associated transcription factor isoform X10

    UniProtKB/TrEMBL
    A0AAA9T8D0

  13. XM_005222628.5 → XP_005222685.1  microphthalmia-associated transcription factor isoform X6

    See identical proteins and their annotated locations for XP_005222685.1

    UniProtKB/TrEMBL
    A0A3Q1MCQ1, A0AAA9T8D0
    Related
    ENSBTAP00000068639.1, ENSBTAT00000070573.2
    Conserved Domains (3) summary
    cd18926
    Location:278 → 381
    bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
    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

  14. XM_015459504.3 → XP_015314990.1  microphthalmia-associated transcription factor isoform X5

    UniProtKB/TrEMBL
    A0AAA9T8D0
    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

  15. XM_059879467.1 → XP_059735450.1  microphthalmia-associated transcription factor isoform X7

    UniProtKB/TrEMBL
    A0A3Q1MS52

  16. XM_024982423.2 → XP_024838191.1  microphthalmia-associated transcription factor isoform X11

    UniProtKB/TrEMBL
    F1MCS8
    Related
    ENSBTAP00000008789.3, ENSBTAT00000008789.4
    Conserved Domains (3) summary
    cd00083
    Location:199 → 259
    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:287 → 406
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:8 → 84
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
Nucleotide Protein Strain
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