Gene name: MITF

Uniprot entry:

O75030

Protein names:

Microphthalmia-associated transcription factor (Class E basic helix-loop-helix protein 32) (bHLHe32)

Protein sequence:

1_MQSES 6_ GIVPD 11_ FEVGE 16_ EFHEE 21_ PKTYY 26_ ELKSQ 31_ PLKSS 36_ SSAEH 41_ PGASK 46_ PPISS 51_ SSMTS 56_ RILLR 61_ QQLMR 66_ EQMQE 71_ QERRE 76_ QQQKL 81_ QAAQF 86_ MQQRV 91_ PVSQT 96_ PAINV 101_ SVPTT 106_ LPSAT 111_ QVPME 116_ VLKVQ 121_ THLEN 126_ PTKYH 131_ IQQAQ 136_ RQQVK 141_ QYLST 146_ TLANK 151_ HANQV 156_ LSLPC 161_ PNQPG 166_ DHVMP 171_ PVPGS 176_ SAPNS 181_ PMAML 186_ TLNSN 191_ CEKEG 196_ FYKFE 201_ EQNRA 206_ ESECP 211_ GMNTH 216_ SRASC 221_ MQMDD 226_ VIDDI 231_ ISLES 236_ SYNEE 241_ ILGLM 246_ DPALQ 251_ MANTL 256_ PVSGN 261_ LIDLY 266_ GNQGL 271_ PPPGL 276_ TISNS 281_ CPANL 286_ PNIKR 291_ ELTAC 296_ IFPTE 301_ SEARA 306_ LAKER 311_ QKKDN 316_ HNLIE 321_ RRRRF 326_ NINDR 331_ IKELG 336_ TLIPK 341_ SNDPD 346_ MRWNK 351_ GTILK 356_ ASVDY 361_ IRKLQ 366_ REQQR 371_ AKELE 376_ NRQKK 381_ LEHAN 386_ RHLLL 391_ RIQEL 396_ EMQAR 401_ AHGLS 406_ LIPST 411_ GLCSP 416_ DLVNR 421_ IIKQE 426_ PVLEN 431_ CSQDL 436_ LQHHA 441_ DLTCT 446_ TTLDL 451_ TDGTI 456_ TFNNN 461_ LGTGT 466_ EANQA 471_ YSVPT 476_ KMGSK 481_ LEDIL 486_ MDDTL 491_ SPVGV 496_ TDPLL 501_ SSVSP 506_ GASKT 511_ SSRRS 516_ SMSME 521_ETEHT

Protein annotations

Protein functions:

1: Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, MITF phosphorylation by MTOR promotes its inactivation (PubMed:36608670). Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity (PubMed:36608670). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). 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 (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758)