| Tag | Content |
|---|---|
| UniProt Accession | MITF_HUMAN; O75030; |
| Entrez ID | 4286 |
| GenBank Protein ID | NM_000248.3; NM_001184967.1; NM_006722.2; NM_198158.2; NM_198159.2; NM_198177.2; NM_198178.2; XM_005264754.1; XM_005264755.3; XM_017006444.1; XM_017006448.1; |
| GenBank Nucleotide ID | NP_000239.1; NP_001171896.1; NP_006713.1; NP_937801.1; NP_937802.1; NP_937820.1; NP_937821.2; XP_005264811.1; XP_005264812.1; XP_016861933.1; XP_016861937.1; |
| Protein Name | Microphthalmia-associated transcription factor (Class E basic helix-loop-helix protein 32) (bHLHe32) |
| Gene Name | MITF; BHLHE32 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and 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. |
| Sequence (Fasta) | MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS SSMTSRILLR 60 QQLMREQMQE QERREQQQKL QAAQFMQQRV PVSQTPAINV SVPTTLPSAT QVPMEVLKVQ 120 THLENPTKYH IQQAQRQQVK QYLSTTLANK HANQVLSLPC PNQPGDHVMP PVPGSSAPNS 180 PMAMLTLNSN CEKEGFYKFE EQNRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE 240 ILGLMDPALQ MANTLPVSGN LIDLYGNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE 300 SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK GTILKASVDY 360 IRKLQREQQR AKELENRQKK LEHANRHLLL RIQELEMQAR AHGLSLIPST GLCSPDLVNR 420 IIKQEPVLEN CSQDLLQHHA DLTCTTTLDL TDGTITFNNN LGTGTEANQA YSVPTKMGSK 480 LEDILMDDTL SPVGVTDPLL SSVSPGASKT SSRRSSMSME ETEHTC 527 |
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| Database | Annotation |
|---|---|
| Cancer Gene Census | melanoma |
| CTD (Curated) (count: 13) (view all) | MESH:C537043
; Albinism ocular late onset sensorineural deafness MESH:D016115 ; Albinism, Oculocutaneous MESH:D002292 ; Carcinoma, Renal Cell MESH:D002471 ; Cell Transformation, Neoplastic OMIM:617306 ; COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS MESH:D003638 ; Deafness |
| DisGeNet (Curated) (count: 68) (view all) | C0001916; Albinism
C0007134; Renal Cell Carcinoma C0007621; Neoplastic Cell Transformation C0011053; Deafness C0016689; Freckles C0018784; Sensorineural Hearing Loss (disorder) |
| HGMD (count: 16) (view all) | CD972852; Waardenburg syndrome 2; Small deletions
CD951776; Waardenburg syndrome; Small deletions CD962652; Waardenburg syndrome 2; Small deletions CD084160; Waardenburg syndrome 2; Small deletions CG077481; Waardenburg syndrome; Gross deletions CG071484; Tietz/Waardenburg type 2A-like syndrome; Gross deletions |
| GWASdb (count: 5) | rs12489786; Multiple complex diseases; Null
rs13073599; Glucose levels; type 2 diabetes mellitus rs78356356; Chagas cardiomyopathy in Tripanosoma cruzi seropositivity; Chagas disease|cardiomyopathy rs6805563; Glucose levels; type 2 diabetes mellitus rs17006615; Multiple complex diseases; Null |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 23) (view all) | 157 KHANQVLSLPCPNQP dbPAF
175 VMPPVPGSSAPNSPM dbPAF 176 MPPVPGSSAPNSPMA dbPAF 180 PGSSAPNSPMAMLTL dbPAF 216 CPGMNTHSRASCMQM dbPAF 301 ACIFPTESEARALAK dbPAF |
| Acetylation (count: 2) | 128 THLENPTKYHIQQAQ PLMD
45 AEHPGASKPPISSSS PLMD |
| Sumoylation (count: 4) | 140 QAQRQQVKQYLSTTL PLMD
289 PANLPNIKRELTACI PLMD 423 DLVNRIIKQEPVLEN PLMD 79 ERREQQQKLQAAQFM PLMD |
| Network | Interaction | ||
|---|---|---|---|
| A | B | Source | |