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 |
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 |