| Gene Symbol |
MITF
|
| Entrez Gene |
4286
|
| Alt Symbol |
CMM8, MI, WS2, WS2A, bHLHe32
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
microphthalmia-associated transcription factor
|
| Other Description |
class E basic helix-loop-helix protein 32
|
| Swissprots |
Q9P2Y8 B4DJL2 Q14841 E9PFN0 O75030 Q9P2V1 D3K197 Q9P2V0 Q9P2V2
|
| Accessions |
AAC39639 AIZ97493 BAA95206 BAA95207 BAA95208 BAA95209 EAW65479 EAW65480 EAW65481 EAW65482 EAW65483 EAW65484 O75030 AB006909 BAA32288 AB006988 BAB83926 AB006989 BAC16749 AB061771 BAB85121 AK291318 BAF84007 AK296129 BAG58874 AK297858 BAG60189 AL110195 CAB53672 AL117653 AW242257 AY632572 BC011461 BC012503 BC026961 AAH26961 BC065243 AAH65243 BM800230 BQ219650 BU167035 DA058963 DC388606 GU355676 ADB90411 Z29678 CAA82775 XM_005264754 XP_005264811 XM_005264755 XP_005264812 XM_006713164 XP_006713227 XM_011533722 XP_011532024 XM_011533723 XP_011532025 XM_011533724 XP_011532026 XM_011533725 XP_011532027 XM_011533726 XP_011532028 NM_000248 NP_000239 NM_001184967 NP_001171896 NM_001184968 NP_001171897 NM_006722 NP_006713 NM_198158 NP_937801 NM_198159 NP_937802 NM_198177 NP_937820 NM_198178 NP_937821
|
| Function |
Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to symmetrical DNA sequences (E-boxes) (5'- CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest- derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. {ECO:0000269|PubMed:10587587, ECO:0000269|PubMed:22647378}.
|
| Subcellular Location |
Nucleus.
|
| Tissue Specificity |
Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but not in melanocyte-lineage cells. Isoform Mdel is widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines. {ECO:0000269|PubMed:20163701}.
|
| Top Pathways |
Melanoma, Melanogenesis, Osteoclast differentiation
|
![Western Blot: MiTF Overexpression Lysate (Adult Normal) [NBL1-13118] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for MiTF.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/10559_MiTF%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-13118-img0002.jpg)
![Western Blot: MiTF Overexpression Lysate (Adult Normal) [NBP2-09070] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for MiTF.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/5734_MiTF%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBP2-09070-img0001.jpg)