Protein Description

Gene Symbol MITF
Entrez ID 4286
Uniprot ID O75030
Description microphthalmia-associated transcription factor
Chromosomal Location chr3: 69,739,435-69,968,337
Ontology GO ID GO Term Definition Evidence

BP

GO:0000122

negative regulation of transcription from RNA polymerase II promoter

Any process that stops, prevents, or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IMP

BP

GO:0006355

regulation of transcription, DNA-templated

Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

NAS

BP

GO:0006366

transcription from RNA polymerase II promoter

The synthesis of RNA from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

IEA

BP

GO:0006461

protein complex assembly

The aggregation, arrangement and bonding together of a set of components to form a protein complex.

IDA

BP

GO:0007275

multicellular organism development

The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).

IEA

BP

GO:0010628

positive regulation of gene expression

Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form.

IDA|IMP

BP

GO:0016925

protein sumoylation

The process in which a SUMO protein (small ubiquitin-related modifier) is conjugated to a target protein via an isopeptide bond between the carboxyl terminus of SUMO with an epsilon-amino group of a lysine residue of the target protein.

TAS

BP

GO:0030318

melanocyte differentiation

The process in which a relatively unspecialized cell acquires specialized features of a melanocyte.

IBA|NAS

BP

GO:0042981

regulation of apoptotic process

Any process that modulates the occurrence or rate of cell death by apoptotic process.

IEA

BP

GO:0045670

regulation of osteoclast differentiation

Any process that modulates the frequency, rate or extent of osteoclast differentiation.

IEA

BP

GO:0045893

positive regulation of transcription, DNA-templated

Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.

IDA|NAS

BP

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IDA|IMP

BP

GO:0097531

mast cell migration

The movement of a mast cell within or between different tissues and organs of the body.

IEA

BP

GO:2000144

positive regulation of DNA-templated transcription, initiation

Any process that activates or increases the frequency, rate or extent of DNA-templated transcription initiation.

IDA

BP

GO:2001141

regulation of RNA biosynthetic process

Any process that modulates the frequency, rate or extent of RNA biosynthetic process.

IDA

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

NAS

CC

GO:0005654

nucleoplasm

That part of the nuclear content other than the chromosomes or the nucleolus.

TAS

CC

GO:0043234

protein complex

A stable macromolecular complex composed (only) of two or more polypeptide subunits along with any covalently attached molecules (such as lipid anchors or oligosaccharide) or non-protein prosthetic groups (such as nucleotides or metal ions). Prosthetic group in this context refers to a tightly bound cofactor. The component polypeptide subunits may be identical.

IDA

MF

GO:0000978

RNA polymerase II core promoter proximal region sequence-specific DNA binding

Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II.

IDA

MF

GO:0001077

transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding

Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II (RNAP II) in order to activate or increase the frequency, rate or extent of transcription from the RNAP II promoter.

IDA|IMP

MF

GO:0001227

transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding

Interacting selectively and non-covalently with a sequence of DNA that is in the regulatory region for RNA polymerase II (RNAP II) in order to stop, prevent, or reduce the frequency, rate or extent of transcription from an RNA polymerase II promoter.

NAS

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0046983

protein dimerization activity

The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits.

IEA

Domain ID Description

IPR011598

Myc-type, basic helix-loop-helix (bHLH) domain

IPR021802

MiT/TFE transcription factors, C-terminal

IPR030532

Microphthalmia-associated transcription factor

IPR031867

MiT/TFE transcription factors, N-terminal

Pathway ID Pathway Term Pathway Source

hsa04137

Mitophagy - animal

KEGG

hsa04380

Osteoclast differentiation

KEGG

hsa04916

Melanogenesis

KEGG

hsa05200

Pathways in cancer

KEGG

hsa05218

Melanoma

KEGG

WP304

Kit receptor signaling pathway

WikiPathways

WP2064

Neural Crest Differentiation

WikiPathways

WP2018

RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway

WikiPathways

h_melanocytepathway

Melanocyte Development and Pigmentation Pathway

BioCarta

UMLS CUI UMLS Term

C0007134

Renal Cell Carcinoma

C0007621

Neoplastic Cell Transformation

C0011053

Deafness

C0027672

Neoplastic Syndromes, Hereditary

C0078918

Albinism, Oculocutaneous

C0549567

Pigmentation Disorders

C1306837

Papillary Renal Cell Carcinoma

Tissue Cell Type

skin

melanocytes

No databases found.

Pubmed ID Author Year Title

17148555

Wood et al.

2007

Molecular Abnormalities in Oocytes from Women with Polycystic Ovary Syndrome Revealed by Microarray Analysis

Gene Symbol Entrez ID Uniprot ID Score

RPS6KB1

6198

P23443

0.00

TYR

7299

P14679

0.00

TCF7L1

83439

Q9HCS4

0.00

CTNNB1

1499

P35222

0.52

PAX3

5077

P23760

0.52

MAPK14

1432

Q16539

0.55

MAPK1

5594

P28482

0.55

RPS6KA1

6195

Q15418

0.55

APP

351

P05067

0.56

YWHAZ

7534

P63104

0.56

PIAS1

8554

O75925

0.56

PIAS2

9063

O75928

0.56

MARK3

4140

P27448

0.63

EBP

10682

Q15125

0.63

EP300

2033

Q09472

0.67

HINT1

3094

P49773

0.72

PSMD14

10213

O00487

0.72

LEF1

51176

Q9UJU2

0.89

CREB1

1385

P16220

0.00

CREBBP

1387

Q92793

0.00

DCT

1638

P40126

0.00

CREB3

10488

O43889

0.00

GSK3B

2932

P49841

0.52

OTX2

5015

P32243

0.52

ELAVL1

1994

Q15717

0.63

EPAS1

2034

Q99814

0.63

HK3

3101

P52790

0.63

XPO1

7514

O14980

0.63

STUB1

10273

Q9UNE7

0.63

RRAGA

10670

Q7L523

0.63

SUMO2

6613

P61956

0.73

SPI1

6688

P17947

0.75

SUMO1

7341

P63165

0.78

PATZ1

23598

Q9HBE1

0.79

FOS

2353

P01100

0.83

TFE3

7030

P19532

0.83

TFEC

22797

O14948

0.83

TFEB

7942

P19484

0.84

UBE2I

7329

P63279

0.89

PAX6

5080

P26367

0.92

PIAS3

10401

Q9Y6X2

0.96