CPLM 1.0 - Compendium of Protein Lysine Modification
TagContent
CPLM ID CPLM-001096
UniProt Accession
Genbank Protein ID
Genbank Nucleotide ID
Protein Name
 Microphthalmia-associated transcription factor 
Protein Synonyms/Alias
 Class E basic helix-loop-helix protein 32; bHLHe32 
Gene Name
 MITF 
Gene Synonyms/Alias
 BHLHE32 
Created Date
 July 27, 2013 
Organism
 Homo sapiens (Human) 
NCBI Taxa ID
 9606 
Lysine Modification
Position
Peptide
Type
References
289PANLPNIKRELTACIsumoylation[1, 2]
423DLVNRIIKQEPVLENsumoylation[1, 2]
Reference
 [1] Sumoylation of MITF and its related family members TFE3 and TFEB.
 Miller AJ, Levy C, Davis IJ, Razin E, Fisher DE.
 J Biol Chem. 2005 Jan 7;280(1):146-55. [PMID: 15507434]
 [2] Sumoylation modulates transcriptional activity of MITF in a promoter-specific manner.
 Murakami H, Arnheiter H.
 Pigment Cell Res. 2005 Aug;18(4):265-77. [PMID: 16029420] 
Functional Description
 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. 
Sequence Annotation
 DOMAIN 311 364 bHLH.
 REGION 224 295 Transactivation.
 REGION 374 395 Leucine-zipper.
 REGION 401 431 DNA binding regulation.
 MOD_RES 180 180 Phosphoserine; by MAPK.
 MOD_RES 405 405 Phosphoserine; by GSK3.
 MOD_RES 414 414 Phosphoserine.
 MOD_RES 491 491 Phosphoserine.
 MOD_RES 516 516 Phosphoserine; by RPS6KA1.
 CROSSLNK 289 289 Glycyl lysine isopeptide (Lys-Gly)
 CROSSLNK 423 423 Glycyl lysine isopeptide (Lys-Gly)  
Keyword
 Activator; Albinism; Alternative splicing; Complete proteome; Deafness; Developmental protein; Disease mutation; DNA-binding; Isopeptide bond; Nucleus; Phosphoprotein; Polymorphism; Reference proteome; Transcription; Transcription regulation; Ubl conjugation; Waardenburg syndrome. 
Sequence Source
 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 
Protein Length
 526 AA 
Protein Sequence
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 526 
Gene Ontology
 GO:0005634; C:nucleus; NAS:UniProtKB.
 GO:0043234; C:protein complex; IDA:UniProtKB.
 GO:0003682; F:chromatin binding; IEA:Compara.
 GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
 GO:0001077; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; IDA:UniProtKB.
 GO:0003705; F:RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; IEA:Compara.
 GO:0046849; P:bone remodeling; IEA:Compara.
 GO:0043010; P:camera-type eye development; IEA:Compara.
 GO:0045165; P:cell fate commitment; IEA:Compara.
 GO:0030318; P:melanocyte differentiation; NAS:UniProtKB.
 GO:0043066; P:negative regulation of apoptotic process; IEA:Compara.
 GO:0030316; P:osteoclast differentiation; IEA:Compara.
 GO:0006461; P:protein complex assembly; IDA:UniProtKB.
 GO:0042127; P:regulation of cell proliferation; IEA:Compara.
 GO:0045670; P:regulation of osteoclast differentiation; IEA:Compara.
 GO:0016055; P:Wnt receptor signaling pathway; IEA:Compara. 
Interpro
 IPR011598; bHLH_dom.
 IPR024097; bHLH_ZIP_TF.
 IPR021802; bHLH_ZIP_TF_MiT/TFE. 
Pfam
 PF11851; DUF3371
 PF00010; HLH 
SMART
 SM00353; HLH 
PROSITE
 PS50888; BHLH 
PRINTS