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HUMAN:MITF

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) MITF (synonyms: BHLHE32)
Protein Name(s) Microphthalmia-associated transcription factor

Class E basic helix-loop-helix protein 32 bHLHe32

External Links
UniProt O75030
EMBL AB006909
AB006989
Z29678
GU355676
AL110195
AK296129
AC099326
AC104445
AC104449
AC124915
BC026961
BC065243
AF034755
AB032359
AB032358
AB032357
AB009608
CCDS CCDS2913.1
CCDS43106.1
CCDS43107.1
CCDS46865.1
CCDS46866.2
CCDS54607.1
PIR I38024
T14752
RefSeq NP_000239.1
NP_001171896.1
NP_006713.1
NP_937801.1
NP_937802.1
NP_937820.1
NP_937821.2
XP_005264811.1
XP_005264812.1
UniGene Hs.166017
Hs.618266
PDB 4C7N
PDBsum 4C7N
ProteinModelPortal O75030
SMR O75030
BioGrid 110432
DIP DIP-59573N
IntAct O75030
MINT MINT-7997258
STRING 9606.ENSP00000295600
ChEMBL CHEMBL1741165
PhosphoSite O75030
MaxQB O75030
PaxDb O75030
PRIDE O75030
Ensembl ENST00000314557
ENST00000314589
ENST00000328528
ENST00000352241
ENST00000394351
ENST00000448226
ENST00000472437
ENST00000531774
GeneID 4286
KEGG hsa:4286
UCSC uc003dnz.3
uc003doa.3
uc003dob.3
uc003doe.3
uc003dof.3
uc021xam.1
CTD 4286
GeneCards GC03P069788
HGNC HGNC:7105
HPA CAB002578
HPA003259
MIM 103470
103500
156845
193510
614456
neXtProt NX_O75030
Orphanet 319276
293822
352740
319298
42665
895
PharmGKB PA30823
eggNOG NOG251286
GeneTree ENSGT00390000004402
HOGENOM HOG000231368
HOVERGEN HBG006768
InParanoid O75030
KO K09455
OMA VLENCNQ
OrthoDB EOG72G182
PhylomeDB O75030
TreeFam TF317174
SignaLink O75030
GeneWiki Microphthalmia-associated_transcription_factor
GenomeRNAi 4286
NextBio 16861
PMAP-CutDB O75030
PRO PR:O75030
Proteomes UP000005640
Bgee O75030
CleanEx HS_MITF
ExpressionAtlas O75030
Genevestigator O75030
GO GO:0005634
GO:0043234
GO:0003682
GO:0000978
GO:0001077
GO:0000979
GO:0003705
GO:0001227
GO:0046849
GO:0043010
GO:0044336
GO:0045165
GO:0030318
GO:0000122
GO:0030316
GO:0045944
GO:0045893
GO:0006461
GO:0042127
GO:0045670
GO:0006355
Gene3D 4.10.280.10
InterPro IPR011598
IPR021802
Pfam PF11851
PF00010
SMART SM00353
SUPFAM SSF47459
PROSITE PS50888

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:2001141

regulation of RNA biosynthetic process

PMID:16411896[1]

ECO:0000314

P

figure 5b1 and 5b2 show that MITF-M transfection upregulates PKC-beta promoter activity approximately 60-fold over control vector transfection.

complete
CACAO 3536

GO:0010628

positive regulation of gene expression

PMID:22234890[2]

ECO:0000314

P

The over-expression of the transcription factor MITF in HEMn-LP cells (cells with the C-allele, which have lighter pigmentation)led to increased OCA2 expression, which darkened the pigmentation of the cell (Figure 4-E).

complete
CACAO 9954

GO:0010628

positive regulation of gene expression

PMID:22234890[2]

ECO:0000315

P

The over-expression of the negative transcription form of MITF in HEMn-LP cells (dnMITF )led to decreased OCA2 expression, which lightened the pigmentation of the cell (Figure 4E). This was an IMP was the conclusion about the role of MITF was drawn from a mutant phenotype.

complete
CACAO 9956

GO:2000144

positive regulation of DNA-templated transcription, initiation

PMID:12204775[3]

ECO:0000314

P

Figure 2. CATGTG is a DNA sequence conserved in human MC1R genes, which are responsible for melanin synthesis. A PicaGene Luciferase assay was conducted using luciferase as a reporter gene to measure the activity of the MC1R promoter. When transcription factor MITF was introduced into a human cell with CATGTG present, luciferase activity increased, indicating that the MITF bound to CATGTG and increased MC1R promoter activity. A human -447 cell without CATGTG was used as a negative control; luciferase activity was unaffected by the presence of MITF. Human cells with the tryrosinase enzyme and the TRP-1 gene were used as positive controls, because MITF has already been shown to positively regulate their transcription in other experiments. The findings of this control were consistent with the expected results because the presence of MITF increased luciferase activty. Overall, this proves that the presence of MITF initiates transactivation of MC1R by binding with CATGTG.

complete
CACAO 9958

GO:0010628

positive regulation of gene expression

PMID:12204775[3]

ECO:0000314

P

Figure 2. CATGTG is a DNA sequence conserved in human MC1R genes, which are responsible for melanin synthesis. A PicaGene Luciferase assay was conducted using luciferase as a reporter gene to measure the activity of the MC1R promoter. When transcription factor MITF was introduced into a human cell with CATGTG present, luciferase activity increased, indicating that the MITF bound to CATGTG and increased MC1R promoter activity. A human -447 cell without CATGTG was used as a negative control; luciferase activity was unaffected by the presence of MITF. Human cells with the tryrosinase enzyme and the TRP-1 gene were used as positive controls, because MITF has already been shown to positively regulate their transcription in other experiments. The findings of this control were consistent with the expected results because the presence of MITF increased luciferase activty. Overall, this proves that the presence of MITF correlates with an increase of melanin synthesis and positively regulates the gene expression of MC1R.

complete
CACAO 9960

GO:2000144

positive regulation of DNA-templated transcription, initiation

PMID:8995290[4]

ECO:0000314

P

Figure 1A/B. Transient cotransfection assays using luciferase as a reporter gene were performed on two types of cells (pigmented and unpigmented) to determine the result of overexpression of MITF. The psV2 gene is derived from luciferase and therefore is used as a control because its luciferase activity will not be affected by MITF. Luciferase activity increased more than the control when MITF was overproduced in both cells containing the TRP-1 gene, indicating that MITF transactivates the TRP-1 gene promoter.

complete
CACAO 9963

GO:0010628

positive regulation of gene expression

PMID:22523078[5]

ECO:0000315

P

Human fetal cells were transfected with MITF siRNA versus control siRNA. Figure 4B shows that a knockdown (reduction) of MITF causes a down-reguation of the gene TRPM1 when all other factors are held constant. Therefore, MITF is responsible for the upregulation of TRPM1.

complete
CACAO 9965

enables

GO:0000981

DNA-binding transcription factor activity, RNA polymerase II-specific

PMID:19274049[6]

ECO:0000303

author statement without traceable support used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0000981

DNA-binding transcription factor activity, RNA polymerase II-specific

PMID:19274049[6]

ECO:0000255

match to sequence model evidence used in manual assertion

InterPro:IPR011598

F

Seeded From UniProt

complete

enables

GO:0000981

DNA-binding transcription factor activity, RNA polymerase II-specific

GO_REF:0000113

ECO:0005556

multiple sequence alignment evidence used in manual assertion

UniProtKB:Q08874

F

Seeded From UniProt

complete

involved_in

GO:0030336

negative regulation of cell migration

PMID:19188590[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

PMID:27889061[8]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0070888

E-box binding

PMID:27889061[8]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:27889061[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0010628

positive regulation of gene expression

PMID:22523078[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:2000144

positive regulation of DNA-templated transcription, initiation

PMID:8995290[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:2000144

positive regulation of DNA-templated transcription, initiation

PMID:12204775[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0010628

positive regulation of gene expression

PMID:22234890[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0010628

positive regulation of gene expression

PMID:22234890[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0001227

DNA-binding transcription repressor activity, RNA polymerase II-specific

PMID:24769727[9]

ECO:0000303

author statement without traceable support used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:2001141

regulation of RNA biosynthetic process

PMID:16411896[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0000122

negative regulation of transcription by RNA polymerase II

PMID:24769727[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

has_regulation_target:(UniProtKB:P37275)

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:14737107[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

has_regulation_target:(NCBI_Gene:17229)

Seeded From UniProt

complete

enables

GO:0001228

DNA-binding transcription activator activity, RNA polymerase II-specific

PMID:14737107[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

occurs_at:(SO:0001952)

Seeded From UniProt

complete

enables

GO:0001228

DNA-binding transcription activator activity, RNA polymerase II-specific

PMID:14737107[10]

ECO:0000314

direct assay evidence used in manual assertion

F

occurs_at:(SO:0001952)

Seeded From UniProt

complete

enables

GO:0000978

RNA polymerase II proximal promoter sequence-specific DNA binding

PMID:14737107[10]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:21209915[11]

ECO:0000314

direct assay evidence used in manual assertion

P

has_regulation_target:(UniProtKB:Q14956)

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:20530484[12]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:9647758[13]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:10578055[14]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0032991

protein-containing complex

PMID:20530484[12]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0030318

melanocyte differentiation

PMID:9647758[13]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0065003

protein-containing complex assembly

PMID:20530484[12]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

PMID:9647758[13]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

PMID:10578055[14]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:9647758[13]

ECO:0000303

author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:10578055[14]

ECO:0000303

author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0001228

DNA-binding transcription activator activity, RNA polymerase II-specific

PMID:20530484[12]

ECO:0000314

direct assay evidence used in manual assertion

F

occurs_at:(SO:0001952)

Seeded From UniProt

complete

involved_in

GO:0030318

melanocyte differentiation

PMID:21873635[15]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:104554
PANTHER:PTN000000820

P

Seeded From UniProt

complete

involved_in

GO:0006351

transcription, DNA-templated

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O88368
ensembl:ENSRNOP00000044350

P

Seeded From UniProt

complete

enables

GO:0070888

E-box binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

F

Seeded From UniProt

complete

enables

GO:0046983

protein dimerization activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

F

Seeded From UniProt

complete

involved_in

GO:0046849

bone remodeling

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0045670

regulation of osteoclast differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0045165

cell fate commitment

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0044336

canonical Wnt signaling pathway involved in negative regulation of apoptotic process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0043473

pigmentation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0043066

negative regulation of apoptotic process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0043010

camera-type eye development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0042127

regulation of cell population proliferation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0030318

melanocyte differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0030316

osteoclast differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0030154

cell differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0016055

Wnt signaling pathway

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0010468

regulation of gene expression

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0006357

regulation of transcription by RNA polymerase II

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

C

Seeded From UniProt

complete

enables

GO:0003700

DNA-binding transcription factor activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

F

Seeded From UniProt

complete

enables

GO:0003682

chromatin binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

F

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

F

Seeded From UniProt

complete

enables

GO:0001228

DNA-binding transcription activator activity, RNA polymerase II-specific

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

F

Seeded From UniProt

complete

enables

GO:0000981

DNA-binding transcription factor activity, RNA polymerase II-specific

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

F

Seeded From UniProt

complete

enables

GO:0000978

RNA polymerase II proximal promoter sequence-specific DNA binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q08874
ensembl:ENSMUSP00000044938

F

Seeded From UniProt

complete

enables

GO:0003700

DNA-binding transcription factor activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030532

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030532

C

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR021802
InterPro:IPR024097

P

Seeded From UniProt

complete

involved_in

GO:0006357

regulation of transcription by RNA polymerase II

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR030532

P

Seeded From UniProt

complete

enables

GO:0046983

protein dimerization activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR011598
InterPro:IPR036638

F

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-3232162

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

involved_in

GO:0007275

multicellular organism development

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0217

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 Park, HY et al. (2006) MITF mediates cAMP-induced protein kinase C-beta expression in human melanocytes. Biochem. J. 395 571-8 PubMed GONUTS page
  2. 2.0 2.1 2.2 2.3 Visser, M et al. (2012) HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Genome Res. 22 446-55 PubMed GONUTS page
  3. 3.0 3.1 3.2 Aoki, H & Moro, O (2002) Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R). Life Sci. 71 2171-9 PubMed GONUTS page
  4. 4.0 4.1 Yasumoto, K et al. (1997) Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes. J. Biol. Chem. 272 503-9 PubMed GONUTS page
  5. 5.0 5.1 Adijanto, J et al. (2012) Microphthalmia-associated transcription factor (MITF) promotes differentiation of human retinal pigment epithelium (RPE) by regulating microRNAs-204/211 expression. J. Biol. Chem. 287 20491-503 PubMed GONUTS page
  6. 6.0 6.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
  7. Segura, MF et al. (2009) Aberrant miR-182 expression promotes melanoma metastasis by repressing FOXO3 and microphthalmia-associated transcription factor. Proc. Natl. Acad. Sci. U.S.A. 106 1814-9 PubMed GONUTS page
  8. 8.0 8.1 8.2 George, A et al. (2016) Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am. J. Hum. Genet. 99 1388-1394 PubMed GONUTS page
  9. 9.0 9.1 Denecker, G et al. (2014) Identification of a ZEB2-MITF-ZEB1 transcriptional network that controls melanogenesis and melanoma progression. Cell Death Differ. 21 1250-61 PubMed GONUTS page
  10. 10.0 10.1 10.2 10.3 Joo, A et al. (2004) STAT3 and MITF cooperatively induce cellular transformation through upregulation of c-fos expression. Oncogene 23 726-34 PubMed GONUTS page
  11. Hong, SB et al. (2010) Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization. PLoS ONE 5 e15793 PubMed GONUTS page
  12. 12.0 12.1 12.2 12.3 Masuda, T & Esumi, N (2010) SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium. J. Biol. Chem. 285 26933-44 PubMed GONUTS page
  13. 13.0 13.1 13.2 13.3 Amae, S et al. (1998) Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. Biochem. Biophys. Res. Commun. 247 710-5 PubMed GONUTS page
  14. 14.0 14.1 14.2 Fuse, N et al. (1999) Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus. J. Biochem. 126 1043-51 PubMed GONUTS page
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