Mitf melanocyte inducing transcription factor [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mitfprovided by RGD
Official Full Name: melanocyte inducing transcription factorprovided by RGD
Primary source: RGD:3092
See related: Ensembl:ENSRNOG00000008658 AllianceGenome:RGD:3092
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; E-box binding activity; and protein dimerization activity. Involved in transcription, DNA-templated. Predicted to be located in cytoplasm. Predicted to be part of protein-containing complex. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg syndrome type 2A; Waardenburg's syndrome; and familial melanoma. Orthologous to human MITF (melanocyte inducing transcription factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Heart (RPKM 176.5), Uterus (RPKM 105.3) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 4q34

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	4	NC_086022.1 (131965676..132177790)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	4	NC_051339.1 (130409020..130621145)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	4	NC_005103.4 (130172484..130425496)

Chromosome 4 - NC_086022.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MITF interacts with BRG1 to promote GATA4 expression in cardiac hypertrophy.
Title: MITF interacts with the SWI/SNF subunit, BRG1, to promote GATA4 expression in cardiac hypertrophy.
We have characterized the biological role of a 23-aa domain derived from PIAS3 that induces apoptosis in these cells by inhibiting the transcriptional activity of both MITF and STAT3.
Title: A specific epitope of protein inhibitor of activated STAT3 is responsible for the induction of apoptosis in rat transformed mast cells.

Submit: New GeneRIF Correction

General gene information

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Markers

Mitf (e-PCR), detects polymorphism
- UniSTS:143873

AU048069 (e-PCR)
- UniSTS:109903

d4rat116 (e-PCR)
- UniSTS:121946

D4Got97 (e-PCR)
- UniSTS:112862

RH139322 (e-PCR)
- UniSTS:221408

UniSTS:496619 (e-PCR)
- UniSTS:496619

Mitf (e-PCR), detects polymorphism
- UniSTS:496619

BE097660 (e-PCR)
- UniSTS:244715

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables E-box binding	IEA Inferred from Electronic Annotation more info
enables E-box binding	ISO Inferred from Sequence Orthology more info
enables E-box binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein dimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in bone remodeling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within bone remodeling	ISO Inferred from Sequence Orthology more info
involved_in camera-type eye development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within camera-type eye development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in cell fate commitment	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell fate commitment	ISO Inferred from Sequence Orthology more info
involved_in cellular response to zinc ion starvation	IEP Inferred from Expression Pattern more info	PubMed
involved_in melanocyte apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of melanocyte apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in melanocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanocyte differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within melanocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in osteoclast differentiation	IEA Inferred from Electronic Annotation more info
involved_in osteoclast differentiation	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within osteoclast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pigmentation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription initiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription initiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of RNA biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in regulation of osteoclast differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of osteoclast differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to ethanol	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: microphthalmia-associated transcription factor

Names: melanogenesis 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)

NM_001191089.5 → NP_001178018.1 microphthalmia-associated transcription factor isoform 1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000004

UniProtKB/Swiss-Prot

F1LQV3, O88368

Conserved Domains (3) summary

cd18926
Location:300 → 403

bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins

pfam11851
Location:397 → 522

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:56 → 194

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
NM_001398550.2 → NP_001385479.1 microphthalmia-associated transcription factor isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000004

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 → 516

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:56 → 194

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086022.1 Reference GRCr8

Range

131965676..132177790

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039107085.2 → XP_038963013.1 microphthalmia-associated transcription factor isoform X2

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 → 515

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:55 → 193

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
XM_039107083.2 → XP_038963011.1 microphthalmia-associated transcription factor isoform X1

Conserved Domains (3) summary

cd18926
Location:299 → 402

bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins

pfam11851
Location:396 → 521

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:55 → 193

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
XM_039107089.2 → XP_038963017.1 microphthalmia-associated transcription factor isoform X6

Conserved Domains (3) summary

cd18926
Location:196 → 299

bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins

pfam11851
Location:293 → 418

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:56 → 118

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
XM_063285575.1 → XP_063141645.1 microphthalmia-associated transcription factor isoform X7
XM_063285574.1 → XP_063141644.1 microphthalmia-associated transcription factor isoform X5

UniProtKB/TrEMBL

A0A8L2ULS4
XM_039107087.2 → XP_038963015.1 microphthalmia-associated transcription factor isoform X5

UniProtKB/TrEMBL

A0A8I5ZYC4, A0A8L2ULS4, A6IBG2

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 → 470

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:4 → 142

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
XM_063285573.1 → XP_063141643.1 microphthalmia-associated transcription factor isoform X4
XM_017592478.3 → XP_017447967.1 microphthalmia-associated transcription factor isoform X3

UniProtKB/TrEMBL

A0A0G2K5U8, A0A8I5ZYC4, A6IBG2

Related

ENSRNOP00000073565.1
XM_063285576.1 → XP_063141646.1 microphthalmia-associated transcription factor isoform X8