Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| MITF | 4286 | microphthalmia-associated transcription factor | 3 | MI, bHLHe32 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 24767713 | 2014 | Cell line : - Source : Poland Population Sample Type : Population based case control study No. of Sample : 4,226 patients with various cancers (melanoma or cancer of the kidney, lung, prostate, colon, or breast) and 2,114 controls Stage : - | - | Unknown | - | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Basic helix-loop-helix proteins |
| Description | This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
| Chromosome | 3 |
| Location | 3p14.1-p12 |
| Start | 69788586 |
| End | 70017488 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 228903 |
| OMIM ID | 156845 |
| HGNC ID | HGNC:7105 |
| Unigene ID | Hs.166017 |
| Ensembl ID | ENSG00000187098 |
| PharmGKB ID | PA30823 |
mRNA Information
| mRNA ID | NM_198159.2 |
|---|---|
| Exon | join(1..267,139700..139949,198388..198615,199664..199747, 201802..201897,209617..209734,212396..212452, 217021..217096,219839..219986,225413..228903) | mRNA Sequence | Download Select all |
| Length | 4815 |
Protein Information
| Protein ID | NP_937802.1 |
|---|---|
| Protein Name | microphthalmia-associated transcription factor |
| Molecular Wt. (Da) | 104402 |
| Protein Sequence | Download Select all |
| Length | 520 |
| Uniprot ID | O60602 |
| Ensembl Protein ID | ENSP00000355846 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| K | Ubiquitination | 307 |
| K | Ubiquitination | 206 |
| K | Ubiquitination | 306 |
| K | Ubiquitination | 200 |
| K | Ubiquitination | 291 |
| K | Ubiquitination | 282 |
| S | Phosphorylation | 399 |
| S | Phosphorylation | 298 |
| S | Phosphorylation | 398 |
| S | Phosphorylation | 292 |
| S | Phosphorylation | 383 |
| S | Phosphorylation | 374 |
| K | Sumoylation | 182 |
| K | Sumoylation | 316 |
| K | Sumoylation | 288 |
| K | Sumoylation | 273 |
| K | Sumoylation | 264 |
| K | Sumoylation | 182 |
| K | Sumoylation | 416 |
| K | Sumoylation | 310 |
| K | Sumoylation | 401 |
| K | Sumoylation | 392 |
| S | Phosphorylation | 408 |
| S | Phosphorylation | 307 |
| S | Phosphorylation | 407 |
| S | Phosphorylation | 301 |
| S | Phosphorylation | 392 |
| S | Phosphorylation | 383 |
| S | Phosphorylation | 32 |
| S | Phosphorylation | 157 |
| S | Phosphorylation | 180 |
| S | Phosphorylation | 50 |
| S | Phosphorylation | 73 |
| S | Phosphorylation | 156 |
| S | Phosphorylation | 179 |
| S | Phosphorylation | 50 |
| S | Phosphorylation | 73 |
| S | Phosphorylation | 141 |
| S | Phosphorylation | 164 |
| S | Phosphorylation | 132 |
| S | Phosphorylation | 155 |
| S | Phosphorylation | 485 |
| S | Phosphorylation | 502 |
| S | Phosphorylation | 384 |
| S | Phosphorylation | 401 |
| S | Phosphorylation | 484 |
| S | Phosphorylation | 501 |
| S | Phosphorylation | 378 |
| S | Phosphorylation | 395 |
| S | Phosphorylation | 469 |
| S | Phosphorylation | 486 |
| S | Phosphorylation | 460 |
| S | Phosphorylation | 477 |
| S | Phosphorylation | 498 |
| S | Phosphorylation | 397 |
| S | Phosphorylation | 497 |
| S | Phosphorylation | 391 |
| S | Phosphorylation | 482 |
| S | Phosphorylation | 473 |
| S | Phosphorylation | 175 |
| S | Phosphorylation | 68 |
| S | Phosphorylation | 174 |
| S | Phosphorylation | 68 |
| S | Phosphorylation | 159 |
| S | Phosphorylation | 150 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 1432 | MAPK14 | 2619 | NP_001306.1 | in vitro;in vivo | 11792706 |
| 1499 | CTNNB1 | 286 | NP_001895.1 | in vivo | 15729346 |
| 2033 | EP300 | 4078 | NP_001420.2 | in vitro;in vivo | 9660747 |
| 5077 | PAX3 | 9421 | NP_852124.1 | in vivo | 15729346 |
| 5594 | MAPK1 | 1496 | NP_002736.3 | in vitro;in vivo | 9440696 |
| 6195 | RPS6KA1 | 3402 | NP_001006666.1 | in vitro;in vivo | 10673502 |
| 51176 | LEF1 | 1075 | NP_057353.1 | in vitro;in vivo;yeast 2-hybrid | 12032083 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Melanogenesis | hsa04916 |
| Melanoma | hsa05218 |
| Osteoclast differentiation | hsa04380 |
| Pathways in cancer | hsa05200 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00083 | 309-369 | HLH |
| cl00081 | 309-369 | HLH superfamily |
| pfam11851 | 397-510 | DUF3371 |
| cl13317 | 397-510 | DUF3371 superfamily |
| smart00353 | 317-369 | HLH |
| pfam00010 | 312-365 | HLH |
| PRK10884 | 332-398 | PRK10884 |
Ontology Information
| HPRD ID | 1855 |
|---|---|
| Molecular Class | Transcription factor |
| Molecular Function | Receptor binding (GO:0005102) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.