ZFIN ID: ZDB-GENE-990910-11
Gene Name: melanocyte inducing transcription factor a
Gene Symbol: mitfa    Nomenclature History

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Names: Mitf2 (1), Mitf-related gene, nac, nacre, z3A.1 (1)

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 6 Mapping Details/Browsers
Description: Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in circadian rhythm; melanocyte differentiation; and transcription, DNA-templated. Predicted to localize to the nucleoplasm. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg's syndrome (multiple); familial melanoma; and ocular albinism with sensorineural deafness. Is expressed in several structures, including immature eye; iridoblast; melanoblast; neural crest; and pigment cell. Orthologous to human MITF (melanocyte inducing transcription factor).
Genome Resources: Alliance (1),  Gene:30080 (1),  Ensembl(GRCz11):ENSDARG00000003732 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
b692 Point Mutation Unknown Missense
  • Zebrafish International Resource Center (ZIRC) (order this)
  • b1085 Unknown Unknown Unknown
    la025593Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • mitfa_unspecified Unspecified Unknown Unknown
    s170 Unknown Unknown Unknown
    s184 Unknown Unknown Unknown
    vc7 Point Mutation Donor Splice Site of Intron 6 Intron Gain of Intron 6
    w2 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • z25 Point Mutation Unknown Missense ENU
    zf2192Tg Transgenic Insertion Unknown Unknown DNA_AND_CRISPR
    DISEASE ASSOCIATED WITH mitfa HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Tietz syndrome Alliance Tietz albinism-deafness syndrome 103500
    Waardenburg syndrome type 2A Alliance Waardenburg syndrome, type 2A 193510
    COMMAD syndrome 617306
    Waardenburg syndrome/ocular albinism, digenic 103470
    {Melanoma, cutaneous malignant, susceptibility to, 8} 614456
    DISEASE ASSOCIATED WITH mitfa VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process circadian rhythm (more)
    Cellular Component nucleoplasm (more)
    Molecular Function DNA-binding transcription factor activity, RNA polymerase II-specific (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
    Domain IPR021802 MiT/TFE transcription factors, C-terminal
    Domain IPR031867 MiT/TFE transcription factors, N-terminal
    Family IPR030532 Microphthalmia-associated transcription factor
    Homologous_superfamily IPR036638 Helix-loop-helix DNA-binding domain superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA mitfa-201 (1)    Ensembl 1652
    mitfa-202 (1)    Ensembl 636
    mitfa-203 (1)    Ensembl 1794
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    CONSTRUCTS WITH SEQUENCES FROM mitfa
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(5xUAS:EGFP,mitfa,cryaa:DsRed) cryaa DsRedEGFPmitfa Danio rerio 1 3
    Tg(ATTB:mitfa) mitfa Danio rerio 1 2
    Tg(cryaa:Venus,mitfa:gnaq_Q209P) cryaamitfa gnaqVenus Danio rerio 3 1
    Tg(mitfa-Hsa.NRAS_Q61L:cryaa-Venus) mitfa cryaaVenus Danio rerioHomo sapiens 1 1
    tg(mitfa:cahsa.gna11_q209l) mitfa Danio rerioHomo sapiens 2 1
    tg(mitfa:cahsa.gna11_q209l_ee) mitfa Danio rerioHomo sapiens 2 1
    tg(mitfa:cahsa.gnaq_q209l_ee) mitfa Danio rerioHomo sapiens 3 1
    Tg(mitfa:Cre-ERT2-SV40,myl7:EGFP) mitfamyl7 CreEGFPERT2 Danio rerio 1 1
    Tg(mitfa:cx41.8) mitfa gja5b Danio rerio 1 4
    Tg(mitfa:cx43) mitfa cx43 Danio rerio 1 2
    Tg(mitfa:cx44.1) mitfa gja8b Danio rerio 1 2
    Tg(mitfa:dlc) mitfa dlc Danio rerio 1 3
    Tg(mitfa:dnatg5_K130R) mitfa atg5 Danio rerio 1 1
    Tg(mitfa:DsRed) mitfa DsRed Danio rerio 1 3
    tg(mitfa:egfp) mitfa EGFP Danio rerio 1 2
    tg(mitfa:egfp-caax) mitfa CAAXEGFP Danio rerio 1 1
    Tg(mitfa:EGFP-Hsa.NRAS_Q61K) mitfa EGFP Danio rerioHomo sapiens 2 4
    Tg(mitfa:GAL4-VP16,UAS:mCherry) mitfaUAS GAL4mCherryVP16 Danio rerio 1 3
    Tg(mitfa:GFP) mitfa GFP Danio rerio 1 24
    Tg(mitfa:gja3) mitfa gja3 Danio rerio 1 2
    Tg(mitfa:gja5b_I203F) mitfa gja5b Danio rerio 1 1
    Tg(mitfa:Hsa.APP,mitfa:EGFP) mitfa EGFP Danio rerioHomo sapiens 2 3
    Tg(mitfa:Hsa.BRAF_V600E) mitfa Danio rerioHomo sapiens 2 29
    Tg(mitfa:Hsa.BRAF_V600E,mitfa:GFP) mitfa GFP Danio rerioHomo sapiens 1 6
    Tg(mitfa:Hsa.HIST1H2BJ-RFP) mitfa RFP Danio rerioHomo sapiens 1 3
    Tg(mitfa:Hsa.HRAS_G12V,mitfa:Bta.Pik3r1) mitfa Bos taurusDanio rerioHomo sapiens 1 3
    Tg(mitfa:Hsa.HRAS_G12V,mitfa:GFP) mitfa GFP Danio rerioHomo sapiens 1 11
    tg(mitfa:hsa.nras_g12d,cryaa:egfp) cryaamitfa EGFP Danio rerioHomo sapiens 1 1
    Tg(mitfa:Hsa.RAC1_V12G,krt4:GFP) krt4mitfa GFP Danio rerioHomo sapiens 2 3
    Tg(mitfa:igsf11) mitfa igsf11 Danio rerio 1 3
    Tg(mitfa:kcnj2) mitfa DsRedkcnj2a Danio rerio 1 3
    Tg(mitfa:kcnj13) mitfa DsRedkcnj13 Danio rerio 1 3
    Tg(mitfa:LIFEACT-GFP) mitfa GFPLIFEACT Danio rerio 1 2
    Tg(mitfa:mitfa) mitfa mitfa Danio rerio 8 22
    Tg(mitfa:NLS-Venus-2A-notch1a) mitfa 2ANLSnotch1aVenus Danio rerio 1 1
    Tg(mitfa:notch1a) mitfa notch1a Danio rerio 1 3
    Tg(mitfa:sat1b) mitfa sat1b Danio rerio 2 2
    Tg(mitfa:TETA-GBD,TETRE:NLS-Venus-2A-dnrbpja) mitfaTETRE 2ANLSrbpjaTETA-GBDVenus Danio rerio 1 1
    Tg2(mitfa:cx41.8) mitfa gja5b Danio rerio 1 3
    tg2(mitfa:gfp) mitfa GFP Danio rerio 1 1
    Tg3(mitfa:cx41.8) mitfa gja5b Danio rerio 2 3
    Tg4(mitfa:gja5b) mitfa gja5b Danio rerio 1 1
    TgBAC(mitfa:LEXPR-Cerulean) mitfa CeruleanLEXPR Danio rerio 1 2
    MARKER RELATIONSHIPS
    mitfa Contained in: [BAC] CH211-170N20 (1)
    mitfa Encodes: [EST] cegs2213 (1) (order this)
    [cDNA] MGC:65859 (1), MGC:77339 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_130923 (1) 1595 nt
    Genomic GenBank:BX927362 (1) 131893 nt
    Select Tool
    Polypeptide UniProtKB:Q9PWC2 (1) 412 aa
    Sequence Information (all 24)
    ORTHOLOGY for mitfa ( Chr: 6 )
    CITATIONS (747)