Mitf

Functionⁱ

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) (PubMed:23207919).

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.

By similarity1 Publication

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, Developmental protein, DNA-binding
Biological process	Transcription, Transcription regulation

Enzyme and pathway databases

Reactomeⁱ	R-MMU-3232118, SUMOylation of transcription factors

Reactomeⁱ

R-MMU-3232118, SUMOylation of transcription factors

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Microphthalmia-associated transcription factor
Gene namesⁱ	Name:Mitf Synonyms:Bw, Mi, Vit
Organismⁱ	Mus musculus (Mouse)
Taxonomic identifierⁱ	10090 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus
Proteomesⁱ	UP000000589 Componentⁱ: Chromosome 6

Organism-specific databases

MGIⁱ	MGI:104554, Mitf
VEuPathDBⁱ	HostDB:ENSMUSG00000035158

Keywords - Cellular componentⁱ

Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Defects in Mitf are the cause of microphthalmia (mi), a condition characterized by loss of pigmentation; reduced eye size; failure of secondary bone resorption; reduced numbers of mast cells; early onset of deafness, and which gives rise to a number of different phenotypes. Among them, microphthalmia-eyeless white (mi-ew) has a normal appearance at the heterozygous state, but shows white coat; eyes almost absent and eyelids never open at homozygosity. Microphthalmia-black and white spot (mi-bws) is normal at heterozygosity, and presents white spots and black eyes at homozygous state. Microphthalmia-white (mi-wh) has reduced coat color and eye pigmentation; spots on toes, tail and belly; inner ear defects at heterozygosity, and at homozygosity shows white coat; eyes small and inner iris slightly pigmented; spinal ganglia, adrenal medulla and dermis smaller than normal, and inner ear defects. Microphthalmia-vitiligo (mi-vi) has normal phenotype at heterozygosity, but shows gradual depigmentation of coat, skin and eyes; and retinal degeneration at homozygosity. Microphthalmia-spotted (mi-sp) shows normal phenotype; at homozygosity, however, tyrosinase activity in skin is reduced. Microphthalmia-defective irism (mi-di) has reduced retinal pigmentation at heterozygosity and shows white coat; eyes of reduced sized and possible mild osteoporosis at homozygosity. Microphthalmia-cloudy eyed (mi-ce) has a normal appearance at the heterozygous state, but shows white coat; eyes of reduced size and unpigmented at homozygosity. Microphthalmia-red-eyed white (mi-rw) has a normal appearance at the homozygous state, but shows white coat with one or more pigmented spots around the head/and or tail; eyes are small and red at heterozygosity. Microphthalmia-black-eyed white (mi-bw) shows a white coat but normal sized eyes which reamin black at homozygosity.2 Publications

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	367 – 369	EQQ → AAA: Changes the structure of the leucine zipper and thereby confers the ability to form heterodimers with MAX. 1 Publication		3

Keywords - Diseaseⁱ

Deafness, Disease variant

Chemistry databases

ChEMBLⁱ	CHEMBL1075142

ChEMBLⁱ

CHEMBL1075142

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000127277	1 – 526	Microphthalmia-associated transcription factorAdd BLAST		526

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	180	Phosphoserine; by MAPKBy similarity	1
Cross-linkⁱ	289	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residueⁱ	405	Phosphoserine; by GSK3By similarity	1
Modified residueⁱ	414	PhosphoserineCombined sources	1
Cross-linkⁱ	423	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residueⁱ	491	PhosphoserineBy similarity	1
Modified residueⁱ	516	Phosphoserine; by RPS6KA1By similarity	1

Post-translational modificationⁱ

Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter (By similarity). Phosphorylated at Ser-180 and Ser-516 following KIT signaling, triggering a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome (By similarity). Phosphorylated in response to blue light (415nm) (By similarity).By similarity

Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation (By similarity).By similarity

Keywords - PTMⁱ

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q08874
PaxDbⁱ	Q08874
PeptideAtlas More...PeptideAtlasⁱ	Q08874
PRIDEⁱ	Q08874
ProteomicsDBⁱ	295620 [Q08874-1] 295621 [Q08874-2] 295622 [Q08874-3] 295623 [Q08874-4] 295624 [Q08874-5] 295625 [Q08874-6] 295626 [Q08874-7] 295627 [Q08874-8] 295628 [Q08874-9]

PTM databases

iPTMnetⁱ	Q08874
PhosphoSitePlusⁱ	Q08874

Expressionⁱ

Tissue specificityⁱ

In the adult, expressed at high levels in the heart, skin, skeletal muscle, intestine, stomach, kidney, ovary, lung, spleen and brain. In the embryo, expressed in developing eye, ear, skin and heart. Isoform M is expressed in melanocytes and also in the embryonic and adult heart while isoform A and isoform H are more widely expressed.1 Publication

Gene expression databases

Bgeeⁱ	ENSMUSG00000035158, Expressed in pineal body and 289 other tissues
ExpressionAtlasⁱ	Q08874, baseline and differential
Genevisibleⁱ	Q08874, MM

Interactionⁱ

Subunit structureⁱ

Homodimer or heterodimer; dimerization is mediated via the coiled coil region (PubMed:23207919). Efficient DNA binding requires dimerization with another bHLH protein (PubMed:23207919). Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC (By similarity). Binds DNA as a homodimer (in vitro) (PubMed:23207919).

Interacts with KARS1 (PubMed:14975237).

Identified in a complex with HINT1 and CTNNB1 (By similarity).

Interacts with VSX2 (PubMed:23028343).

By similarity3 Publications

GO - Molecular functionⁱ

protein dimerization activity
Source: UniProtKB
Inferred from physical interactionⁱ
- Ref.14
  "Restricted leucine zipper dimerization and specificity of DNA recognition of the melanocyte master regulator MITF."
  Pogenberg V., Ogmundsdottir M.H., Bergsteinsdottir K., Schepsky A., Phung B., Deineko V., Milewski M., Steingrimsson E., Wilmanns M.
  Genes Dev. 26:2647-2658(2012) [PubMed] [Europe PMC] [Abstract]
  Cited for: X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 324-403, FUNCTION, SUBUNIT, DOMAIN, COILED COIL, DNA-BINDING, MUTAGENESIS OF 367-GLU--GLN-369.

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	201427, 11 interactors
IntActⁱ	Q08874, 1 interactor
Molecular INTeraction database More...MINTⁱ	Q08874
STRINGⁱ	10090.ENSMUSP00000044938

Miscellaneous databases

RNActⁱ	Q08874, protein

RNActⁱ

Q08874, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	311 – 315	Combined sources	5
Helixⁱ	324 – 337	Combined sources	14
Beta strandⁱ	338 – 340	Combined sources	3
Helixⁱ	350 – 366	Combined sources	17
Helixⁱ	368 – 401	Combined sources	34

Show more details

3D structure databases

SMRⁱ	Q08874
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	311 – 364	bHLHPROSITE-ProRule annotationAdd BLAST		54

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	20 – 54	DisorderedSequence analysisAdd BLAST	35
Regionⁱ	155 – 179	DisorderedSequence analysisAdd BLAST	25
Regionⁱ	224 – 291	TransactivationBy similarityAdd BLAST	68
Regionⁱ	374 – 395	Leucine-zipper1 PublicationAdd BLAST	22
Regionⁱ	401 – 431	DNA binding regulationBy similarityAdd BLAST	31
Regionⁱ	496 – 526	DisorderedSequence analysisAdd BLAST	31

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	355 – 401	Sequence analysisAdd BLAST		47

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	28 – 54	Polar residuesSequence analysisAdd BLAST		27
Compositional biasⁱ	497 – 515	Polar residuesSequence analysisAdd BLAST		19

Domainⁱ

The leucine zipper region is part of a larger coiled coil.1 Publication

Sequence similaritiesⁱ

Belongs to the MiT/TFE family.Curated

Keywords - Domainⁱ

Coiled coil

Phylogenomic databases

eggNOGⁱ	KOG1318, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000156326
InParanoidⁱ	Q08874
OMAⁱ	MANTXCI
Database of Orthologous Groups More...OrthoDBⁱ	1211990at2759
PhylomeDBⁱ	Q08874
TreeFamⁱ	TF317174

Family and domain databases

Gene3Dⁱ	4.10.280.10, 1 hit
InterProⁱ	View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR021802, MiT/TFE_C IPR031867, MiT/TFE_N IPR030532, MITF
PANTHERⁱ	PTHR45776:SF4, PTHR45776:SF4, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF11851, DUF3371, 1 hit PF00010, HLH, 1 hit PF15951, MITF_TFEB_C_3_N, 1 hit
SMARTⁱ	View protein in SMART SM00353, HLH, 1 hit
SUPFAMⁱ	SSF47459, SSF47459, 1 hit
PROSITEⁱ	View protein in PROSITE PS50888, BHLH, 1 hit

Sequences (9+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 9 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 9 described isoforms and 4 potential isoforms that are computationally mapped.Show all Align All

Isoform A (identifier: Q08874-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MQSESGIVAD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH SGASKPPLSS 
        60         70         80         90        100
STMTSRILLR QQLMREQMQE QERREQQQKL QAAQFMQQRV AVSQTPAINV 
       110        120        130        140        150
SVPTTLPSAT QVPMEVLKVQ THLENPTKYH IQQAQRHQVK QYLSTTLANK 
       160        170        180        190        200
HASQVLSSPC PNQPGDHAMP PVPGSSAPNS PMAMLTLNSN CEKEAFYKFE 
       210        220        230        240        250
EQSRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE ILGLMDPALQ 
       260        270        280        290        300
MANTLPVSGN LIDLYSNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE 
       310        320        330        340        350
SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK 
       360        370        380        390        400
GTILKASVDY IRKLQREQQR AKDLENRQKK LEHANRHLLL RVQELEMQAR 
       410        420        430        440        450
AHGLSLIPST GLCSPDLVNR IIKQEPVLEN CSQELVQHQA DLTCTTTLDL 
       460        470        480        490        500
TDGTITFTNN LGTMPESSPA YSIPRKMGSN LEDILMDDAL SPVGVTDPLL 
       510        520 
SSVSPGASKT SSRRSSMSAE ETEHAC

Length:526

Mass (Da):58,605

Last modified:July 5, 2017 - v4

Checksum:ⁱA3CB0E4F27C8DCDB

GO

Isoform A1 (identifier: Q08874-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
139-194: Missing.

« Hide

        10         20         30         40         50
MQSESGIVAD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH SGASKPPLSS 
        60         70         80         90        100
STMTSRILLR QQLMREQMQE QERREQQQKL QAAQFMQQRV AVSQTPAINV 
       110        120        130        140        150
SVPTTLPSAT QVPMEVLKVQ THLENPTKYH IQQAQRHQAF YKFEEQSRAE 
       160        170        180        190        200
SECPGMNTHS RASCMQMDDV IDDIISLESS YNEEILGLMD PALQMANTLP 
       210        220        230        240        250
VSGNLIDLYS NQGLPPPGLT ISNSCPANLP NIKRELTACI FPTESEARAL 
       260        270        280        290        300
AKERQKKDNH NLIERRRRFN INDRIKELGT LIPKSNDPDM RWNKGTILKA 
       310        320        330        340        350
SVDYIRKLQR EQQRAKDLEN RQKKLEHANR HLLLRVQELE MQARAHGLSL 
       360        370        380        390        400
IPSTGLCSPD LVNRIIKQEP VLENCSQELV QHQADLTCTT TLDLTDGTIT 
       410        420        430        440        450
FTNNLGTMPE SSPAYSIPRK MGSNLEDILM DDALSPVGVT DPLLSSVSPG 
       460        470
ASKTSSRRSS MSAEETEHAC

Show »

Length:470

Mass (Da):52,746

Checksum:ⁱ7026C08084259180

GO

Isoform A2 (identifier: Q08874-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
     119-222: Missing.
     294-299: Missing.
     318-319: LI → LSKFV

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        10         20         30         40         50
MQSESGIVAD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH SGASKPPLSS 
        60         70         80         90        100
STMTSRILLR QQLMREQMQE QERREQQQKL QAAQFMQQRV AVSQTPAINV 
       110        120        130        140        150
SVPTTLPSAT QVPMEVLKMD DVIDDIISLE SSYNEEILGL MDPALQMANT 
       160        170        180        190        200
LPVSGNLIDL YSNQGLPPPG LTISNSCPAN LPNIKRELTE SEARALAKER 
       210        220        230        240        250
QKKDNHNLSK FVERRRRFNI NDRIKELGTL IPKSNDPDMR WNKGTILKAS 
       260        270        280        290        300
VDYIRKLQRE QQRAKDLENR QKKLEHANRH LLLRVQELEM QARAHGLSLI 
       310        320        330        340        350
PSTGLCSPDL VNRIIKQEPV LENCSQELVQ HQADLTCTTT LDLTDGTITF 
       360        370        380        390        400
TNNLGTMPES SPAYSIPRKM GSNLEDILMD DALSPVGVTD PLLSSVSPGA 
       410 
SKTSSRRSSM SAEETEHAC

Show »

Length:419

Mass (Da):46,815

Checksum:ⁱ22F23451EE2F989B

GO

Isoform H (identifier: Q08874-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-35: MQSESGIVADFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL

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        10         20         30         40         50
MEALRFEMLI PCSFESLCLS SAEHSGASKP PLSSSTMTSR ILLRQQLMRE 
        60         70         80         90        100
QMQEQERREQ QQKLQAAQFM QQRVAVSQTP AINVSVPTTL PSATQVPMEV 
       110        120        130        140        150
LKVQTHLENP TKYHIQQAQR HQVKQYLSTT LANKHASQVL SSPCPNQPGD 
       160        170        180        190        200
HAMPPVPGSS APNSPMAMLT LNSNCEKEAF YKFEEQSRAE SECPGMNTHS 
       210        220        230        240        250
RASCMQMDDV IDDIISLESS YNEEILGLMD PALQMANTLP VSGNLIDLYS 
       260        270        280        290        300
NQGLPPPGLT ISNSCPANLP NIKRELTACI FPTESEARAL AKERQKKDNH 
       310        320        330        340        350
NLIERRRRFN INDRIKELGT LIPKSNDPDM RWNKGTILKA SVDYIRKLQR 
       360        370        380        390        400
EQQRAKDLEN RQKKLEHANR HLLLRVQELE MQARAHGLSL IPSTGLCSPD 
       410        420        430        440        450
LVNRIIKQEP VLENCSQELV QHQADLTCTT TLDLTDGTIT FTNNLGTMPE 
       460        470        480        490        500
SSPAYSIPRK MGSNLEDILM DDALSPVGVT DPLLSSVSPG ASKTSSRRSS 
       510
MSAEETEHAC

Show »

Length:510

Mass (Da):56,818

Checksum:ⁱ47CD5802DDA9686D

GO

Isoform H1 (identifier: Q08874-5) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-35: MQSESGIVADFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
119-254: Missing.

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        10         20         30         40         50
MEALRFEMLI PCSFESLCLS SAEHSGASKP PLSSSTMTSR ILLRQQLMRE 
        60         70         80         90        100
QMQEQERREQ QQKLQAAQFM QQRVAVSQTP AINVSVPTTL PSATQVPMEV 
       110        120        130        140        150
LKLPVSGNLI DLYSNQGLPP PGLTISNSCP ANLPNIKREL TACIFPTESE 
       160        170        180        190        200
ARALAKERQK KDNHNLIERR RRFNINDRIK ELGTLIPKSN DPDMRWNKGT 
       210        220        230        240        250
ILKASVDYIR KLQREQQRAK DLENRQKKLE HANRHLLLRV QELEMQARAH 
       260        270        280        290        300
GLSLIPSTGL CSPDLVNRII KQEPVLENCS QELVQHQADL TCTTTLDLTD 
       310        320        330        340        350
GTITFTNNLG TMPESSPAYS IPRKMGSNLE DILMDDALSP VGVTDPLLSS 
       360        370 
VSPGASKTSS RRSSMSAEET EHAC

Show »

Length:374

Mass (Da):41,773

Checksum:ⁱD86B5FC7B42F1E1D

GO

Isoform H2 (identifier: Q08874-6) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MQSESGIVADFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
     119-254: Missing.
     294-319: ACIFPTESEARALAKERQKKDNHNLI → V

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        10         20         30         40         50
MEALRFEMLI PCSFESLCLS SAEHSGASKP PLSSSTMTSR ILLRQQLMRE 
        60         70         80         90        100
QMQEQERREQ QQKLQAAQFM QQRVAVSQTP AINVSVPTTL PSATQVPMEV 
       110        120        130        140        150
LKLPVSGNLI DLYSNQGLPP PGLTISNSCP ANLPNIKREL TVERRRRFNI 
       160        170        180        190        200
NDRIKELGTL IPKSNDPDMR WNKGTILKAS VDYIRKLQRE QQRAKDLENR 
       210        220        230        240        250
QKKLEHANRH LLLRVQELEM QARAHGLSLI PSTGLCSPDL VNRIIKQEPV 
       260        270        280        290        300
LENCSQELVQ HQADLTCTTT LDLTDGTITF TNNLGTMPES SPAYSIPRKM 
       310        320        330        340 
GSNLEDILMD DALSPVGVTD PLLSSVSPGA SKTSSRRSSM SAEETEHAC

Show »

Length:349

Mass (Da):38,906

Checksum:ⁱ950EA84CF9E74FD0

GO

Isoform H3 (identifier: Q08874-7) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-35: MQSESGIVADFEVGEEFHEEPKTYYELKSQPLKSS → MEALRFEMLIPCSFESLCL
139-194: Missing.

« Hide

        10         20         30         40         50
MEALRFEMLI PCSFESLCLS SAEHSGASKP PLSSSTMTSR ILLRQQLMRE 
        60         70         80         90        100
QMQEQERREQ QQKLQAAQFM QQRVAVSQTP AINVSVPTTL PSATQVPMEV 
       110        120        130        140        150
LKVQTHLENP TKYHIQQAQR HQAFYKFEEQ SRAESECPGM NTHSRASCMQ 
       160        170        180        190        200
MDDVIDDIIS LESSYNEEIL GLMDPALQMA NTLPVSGNLI DLYSNQGLPP 
       210        220        230        240        250
PGLTISNSCP ANLPNIKREL TACIFPTESE ARALAKERQK KDNHNLIERR 
       260        270        280        290        300
RRFNINDRIK ELGTLIPKSN DPDMRWNKGT ILKASVDYIR KLQREQQRAK 
       310        320        330        340        350
DLENRQKKLE HANRHLLLRV QELEMQARAH GLSLIPSTGL CSPDLVNRII 
       360        370        380        390        400
KQEPVLENCS QELVQHQADL TCTTTLDLTD GTITFTNNLG TMPESSPAYS 
       410        420        430        440        450
IPRKMGSNLE DILMDDALSP VGVTDPLLSS VSPGASKTSS RRSSMSAEET 

EHAC

Show »

Length:454

Mass (Da):50,958

Checksum:ⁱ47A5D6D453DC69CB

GO

Isoform M (identifier: Q08874-8) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-118: MQSESGIVAD...ATQVPMEVLK → MLEMLEYSHYQ

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        10         20         30         40         50
MLEMLEYSHY QVQTHLENPT KYHIQQAQRH QVKQYLSTTL ANKHASQVLS 
        60         70         80         90        100
SPCPNQPGDH AMPPVPGSSA PNSPMAMLTL NSNCEKEAFY KFEEQSRAES 
       110        120        130        140        150
ECPGMNTHSR ASCMQMDDVI DDIISLESSY NEEILGLMDP ALQMANTLPV 
       160        170        180        190        200
SGNLIDLYSN QGLPPPGLTI SNSCPANLPN IKRELTACIF PTESEARALA 
       210        220        230        240        250
KERQKKDNHN LIERRRRFNI NDRIKELGTL IPKSNDPDMR WNKGTILKAS 
       260        270        280        290        300
VDYIRKLQRE QQRAKDLENR QKKLEHANRH LLLRVQELEM QARAHGLSLI 
       310        320        330        340        350
PSTGLCSPDL VNRIIKQEPV LENCSQELVQ HQADLTCTTT LDLTDGTITF 
       360        370        380        390        400
TNNLGTMPES SPAYSIPRKM GSNLEDILMD DALSPVGVTD PLLSSVSPGA 
       410 
SKTSSRRSSM SAEETEHAC

Show »

Length:419

Mass (Da):46,769

Checksum:ⁱ2620A6F93CDED178

GO

Isoform M1 (identifier: Q08874-9) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-118: MQSESGIVAD...ATQVPMEVLK → MLEMLEYSHYQ
294-299: Missing.

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        10         20         30         40         50
MLEMLEYSHY QVQTHLENPT KYHIQQAQRH QVKQYLSTTL ANKHASQVLS 
        60         70         80         90        100
SPCPNQPGDH AMPPVPGSSA PNSPMAMLTL NSNCEKEAFY KFEEQSRAES 
       110        120        130        140        150
ECPGMNTHSR ASCMQMDDVI DDIISLESSY NEEILGLMDP ALQMANTLPV 
       160        170        180        190        200
SGNLIDLYSN QGLPPPGLTI SNSCPANLPN IKRELTESEA RALAKERQKK 
       210        220        230        240        250
DNHNLIERRR RFNINDRIKE LGTLIPKSND PDMRWNKGTI LKASVDYIRK 
       260        270        280        290        300
LQREQQRAKD LENRQKKLEH ANRHLLLRVQ ELEMQARAHG LSLIPSTGLC 
       310        320        330        340        350
SPDLVNRIIK QEPVLENCSQ ELVQHQADLT CTTTLDLTDG TITFTNNLGT 
       360        370        380        390        400
MPESSPAYSI PRKMGSNLED ILMDDALSPV GVTDPLLSSV SPGASKTSSR 
       410 
RSSMSAEETE HAC

Show »

Length:413

Mass (Da):46,136

Checksum:ⁱC1A44A4D643E435B

GO

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

E9PZ28	E9PZ28_MOUSE	Microphthalmia-associated transcrip... Microphthalmia-associated transcription factor	Mitf	501	Annotation score:
A0A0N4SV79	A0A0N4SV79_MOUSE	Microphthalmia-associated transcrip... Microphthalmia-associated transcription factor	Mitf	357	Annotation score:
A0A5H1ZRM6	A0A5H1ZRM6_MOUSE	Microphthalmia-associated transcrip... Microphthalmia-associated transcription factor	Mitf	520	Annotation score:
D6RCW2	D6RCW2_MOUSE	Microphthalmia-associated transcrip... Microphthalmia-associated transcription factor	Mitf	105	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	9	A → P in AAF81266 (PubMed:10790403).	1
Sequence conflictⁱ	9	A → P in AAF81267 (PubMed:10790403).	1
Sequence conflictⁱ	9	A → P in AAF81268 (PubMed:10790403).	1
Sequence conflictⁱ	9	A → P in AAF81269 (PubMed:10790403).	1
Sequence conflictⁱ	9	A → P in AAF81270 (PubMed:10790403).	1
Sequence conflictⁱ	9	A → P in AAF81271 (PubMed:10790403).	1
Sequence conflictⁱ	9	A → P in AAF81272 (PubMed:10790403).	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱ	36 – 118	Missing in microphthalmia-red-eyed white/mi-rw. Add BLAST	83
Natural variantⁱ	119 – 254	Missing in microphthalmia-white spot/mi-ws. 1 PublicationAdd BLAST	136
Natural variantⁱ	139 – 194	Missing in microphthalmia-black and white spot/mi-bws. Add BLAST	56
Natural variantⁱ	294 – 319	ACIFP…NHNLI → V in microphthalmia-eyeless-white/mi-ew. Add BLAST	26
Natural variantⁱ	294 – 299	Missing in microphthalmia-spotted/mi-sp.	6
Natural variantⁱ	319	I → N in microphthalmia-white/mi-wh.	1
Natural variantⁱ	323	Missing in microphthalmia/mi. 1 Publication	1
Natural variantⁱ	329	D → N in microphthalmia-vitiligo/mi-vi.	1
Natural variantⁱ	370 – 526	Missing in microphthalmia-cloudy-eyed/mi-ce and microphthalmia-defective iris/mi-di. Add BLAST	157

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_002130	1 – 118	MQSES…MEVLK → MLEMLEYSHYQ in isoform M and isoform M1. 1 PublicationAdd BLAST	118
Alternative sequenceⁱVSP_002129	1 – 35	MQSES…PLKSS → MEALRFEMLIPCSFESLCL in isoform H, isoform H1, isoform H2 and isoform H3. CuratedAdd BLAST	35
Alternative sequenceⁱVSP_002132	119 – 254	Missing in isoform H1 and isoform H2. CuratedAdd BLAST	136
Alternative sequenceⁱVSP_002131	119 – 222	Missing in isoform A2. CuratedAdd BLAST	104
Alternative sequenceⁱVSP_002133	139 – 194	Missing in isoform A1 and isoform H3. CuratedAdd BLAST	56
Alternative sequenceⁱVSP_002135	294 – 319	ACIFP…NHNLI → V in isoform H2. CuratedAdd BLAST	26
Alternative sequenceⁱVSP_002134	294 – 299	Missing in isoform A2 and isoform M1. 1 Publication	6
Alternative sequenceⁱVSP_002136	318 – 319	LI → LSKFV in isoform A2. Curated	2

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	Z23066 mRNA Translation: CAA80600.1 AF222344 Genomic DNA Translation: AAF63466.1 AF222959 AF222958 Genomic DNA Translation: AAF81266.2 AF222959 AF222958 Genomic DNA Translation: AAF81267.2 AF222959 AF222958 Genomic DNA Translation: AAF81268.2 AF222959 AF222958 Genomic DNA Translation: AAF81269.2 AF222959 AF222958 Genomic DNA Translation: AAF81270.2 AF222959 AF222958 Genomic DNA Translation: AAF81271.2 AF222959 AF222958 Genomic DNA Translation: AAF81272.2 AF222952 Genomic DNA No translation available. AK155350 mRNA Translation: BAE33209.1 AC131676 Genomic DNA No translation available. AC157098 Genomic DNA No translation available. AC158650 Genomic DNA No translation available. U19874 mRNA Translation: AAC52155.1 U19875 mRNA Translation: AAC52156.1 L22958 mRNA Translation: AAB47773.1 AB009397 mRNA Translation: BAA32329.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS20385.1 [Q08874-8] CCDS51861.1 [Q08874-1] CCDS51862.1 [Q08874-4]
PIRⁱ	A40728 I49244 PD0026
NCBI Reference Sequences More...RefSeqⁱ	NP_001106669.1, NM_001113198.1 [Q08874-1] NP_032627.1, NM_008601.3 [Q08874-8] XP_006505758.1, XM_006505695.3 [Q08874-9]

Genome annotation databases

Ensemblⁱ	ENSMUST00000043628; ENSMUSP00000044459; ENSMUSG00000035158 [Q08874-8] ENSMUST00000043637; ENSMUSP00000044938; ENSMUSG00000035158 [Q08874-1] ENSMUST00000101123; ENSMUSP00000098683; ENSMUSG00000035158 [Q08874-4]
GeneIDⁱ	17342
KEGGⁱ	mmu:17342
UCSC genome browser More...UCSCⁱ	uc009daz.2, mouse

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q08874-8	Microphthalmia-associated transcription factor		MOUSE		419	UniRef100_Q32MU7

Protein	Similar proteins		Species	Score	Length	Source
Q08874	Microphthalmia-associated transcription factor	)	HUMAN		526	UniRef90_O75030
Microphthalmia-associated transcription factor		RAT		526
Melanocyte inducing transcription factor		HORSE		641
Microphthalmia-associated transcription factor isoform M (Fragment)		VICPA		127
Microphthalmia-associated transcription factor Trnc-1 (Fragment)		SHEEP		91
+427
Q08874-2	Isoform H of Microphthalmia-associated transcription factor		MOUSE		510	UniRef90_Q08874-4
microphthalmia-associated transcription factor isoform X1		MUSCR		543
Melanocyte inducing transcription factor		PERMB		510
Microphthalmia-associated transcription factor		RAT		510
Melanogenesis associated transcription factor		MUSSI		510
+33
Q08874-3	microphthalmia-associated transcription factor isoform X11		MUSCR		504	UniRef90_Q08874-3
microphthalmia-associated transcription factor isoform X7		PERMB		413
Isoform M1 of Microphthalmia-associated transcription factor		MOUSE		413
MITF		CRIGR		413
+2
Q08874-8	microphthalmia-associated transcription factor isoform X6		MESAU		419	UniRef90_A0A1U8C191
(mimic poison frog) hypothetical protein		mimic poison frog		424
Melanogenesis associated transcription factor		CRIGR		419
Microphthalmia-associated transcription factor		MOUSE		419
Melanogenesis associated transcription factor		MUSSI		419
+8

Protein	Similar proteins		Species	Score	Length	Source
Q08874	Microphthalmia-associated transcription factor	)	HUMAN		526	UniRef50_O75030
Microphthalmia-associated transcription factor		RAT		526
Melanocyte inducing transcription factor		HORSE		641
Microphthalmia-associated transcription factor isoform M (Fragment)		VICPA		127
Microphthalmia-associated transcription factor Trnc-1 (Fragment)		SHEEP		91
+565
Q08874-2	Isoform A2 of Microphthalmia-associated transcription factor		HUMAN		520	UniRef50_O75030-2
Melanocyte inducing transcription factor		Equus asinus asinus		635
Microphthalmia-associated transcription factor (Fragment)		EQUZE		130
Microphthalmia-associated transcription factor (Fragment)		Persian onager		130
Microphthalmia-associated transcription factor (Fragment)		EQUBU		130
+1194
Q08874-3	Isoform H1 of Microphthalmia-associated transcription factor		HUMAN		510	UniRef50_O75030-7
Melanocyte inducing transcription factor		PANPA		510
Melanocyte inducing transcription factor		CERAT		510
Melanocyte inducing transcription factor		SAIBB		510
Transcription factor binding to IGHM enhancer 3b		SALFA		491
+645
Q08874-8	Isoform M2 of Microphthalmia-associated transcription factor		HUMAN		413	UniRef50_O75030-10
BHLH domain-containing protein		RHIRO		419
BHLH domain-containing protein		RHIBE		419
microphthalmia-associated transcription factor isoform X12		SAPAP		413
Melanocyte inducing transcription factor		MACMU		413
+435

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	Z23066 mRNA Translation: CAA80600.1 AF222344 Genomic DNA Translation: AAF63466.1 AF222959 AF222958 Genomic DNA Translation: AAF81266.2 AF222959 AF222958 Genomic DNA Translation: AAF81267.2 AF222959 AF222958 Genomic DNA Translation: AAF81268.2 AF222959 AF222958 Genomic DNA Translation: AAF81269.2 AF222959 AF222958 Genomic DNA Translation: AAF81270.2 AF222959 AF222958 Genomic DNA Translation: AAF81271.2 AF222959 AF222958 Genomic DNA Translation: AAF81272.2 AF222952 Genomic DNA No translation available. AK155350 mRNA Translation: BAE33209.1 AC131676 Genomic DNA No translation available. AC157098 Genomic DNA No translation available. AC158650 Genomic DNA No translation available. U19874 mRNA Translation: AAC52155.1 U19875 mRNA Translation: AAC52156.1 L22958 mRNA Translation: AAB47773.1 AB009397 mRNA Translation: BAA32329.1
CCDSⁱ	CCDS20385.1 [Q08874-8] CCDS51861.1 [Q08874-1] CCDS51862.1 [Q08874-4]
PIRⁱ	A40728 I49244 PD0026
RefSeqⁱ	NP_001106669.1, NM_001113198.1 [Q08874-1] NP_032627.1, NM_008601.3 [Q08874-8] XP_006505758.1, XM_006505695.3 [Q08874-9]

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4ATH	X-ray	1.95	A/B	324-403	[»]
	4ATI	X-ray	2.60	A/B	287-403	[»]
	4ATK	X-ray	2.95	A/B	287-403	[»]
	6FX5	X-ray	2.05	A/B	324-403	[»]
	6G1L	X-ray	2.40	A	287-403	[»]
SMRⁱ	Q08874
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	201427, 11 interactors
IntActⁱ	Q08874, 1 interactor
MINTⁱ	Q08874
STRINGⁱ	10090.ENSMUSP00000044938

Chemistry databases

ChEMBLⁱ	CHEMBL1075142

ChEMBLⁱ

CHEMBL1075142

PTM databases

iPTMnetⁱ	Q08874
PhosphoSitePlusⁱ	Q08874

Proteomic databases

MaxQBⁱ	Q08874
PaxDbⁱ	Q08874
PeptideAtlasⁱ	Q08874
PRIDEⁱ	Q08874
ProteomicsDBⁱ	295620 [Q08874-1] 295621 [Q08874-2] 295622 [Q08874-3] 295623 [Q08874-4] 295624 [Q08874-5] 295625 [Q08874-6] 295626 [Q08874-7] 295627 [Q08874-8] 295628 [Q08874-9]

Protocols and materials databases

Antibodypediaⁱ	923, 917 antibodies from 46 providers
The DNASU plasmid repository More...DNASUⁱ	17342

Genome annotation databases

Ensemblⁱ	ENSMUST00000043628; ENSMUSP00000044459; ENSMUSG00000035158 [Q08874-8] ENSMUST00000043637; ENSMUSP00000044938; ENSMUSG00000035158 [Q08874-1] ENSMUST00000101123; ENSMUSP00000098683; ENSMUSG00000035158 [Q08874-4]
GeneIDⁱ	17342
KEGGⁱ	mmu:17342
UCSCⁱ	uc009daz.2, mouse

Organism-specific databases

CTDⁱ	4286
MGIⁱ	MGI:104554, Mitf
VEuPathDBⁱ	HostDB:ENSMUSG00000035158

Phylogenomic databases

eggNOGⁱ	KOG1318, Eukaryota
GeneTreeⁱ	ENSGT00940000156326
InParanoidⁱ	Q08874
OMAⁱ	MANTXCI
OrthoDBⁱ	1211990at2759
PhylomeDBⁱ	Q08874
TreeFamⁱ	TF317174

Enzyme and pathway databases

Reactomeⁱ	R-MMU-3232118, SUMOylation of transcription factors

Reactomeⁱ

R-MMU-3232118, SUMOylation of transcription factors

Miscellaneous databases

BioGRID-ORCSⁱ	17342, 5 hits in 63 CRISPR screens
ChiTaRSⁱ	Mitf, mouse
Protein Ontology More...PROⁱ	PR:Q08874
RNActⁱ	Q08874, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSMUSG00000035158, Expressed in pineal body and 289 other tissues
ExpressionAtlasⁱ	Q08874, baseline and differential
Genevisibleⁱ	Q08874, MM

Family and domain databases

Gene3Dⁱ	4.10.280.10, 1 hit
InterProⁱ	View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR021802, MiT/TFE_C IPR031867, MiT/TFE_N IPR030532, MITF
PANTHERⁱ	PTHR45776:SF4, PTHR45776:SF4, 1 hit
Pfamⁱ	View protein in Pfam PF11851, DUF3371, 1 hit PF00010, HLH, 1 hit PF15951, MITF_TFEB_C_3_N, 1 hit
SMARTⁱ	View protein in SMART SM00353, HLH, 1 hit
SUPFAMⁱ	SSF47459, SSF47459, 1 hit
PROSITEⁱ	View protein in PROSITE PS50888, BHLH, 1 hit
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	MITF_MOUSE
Accessionⁱ	Q08874Primary (citable) accession number: Q08874 Secondary accession number(s): A0A0N4SVJ5 Q9JKX9
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
	Last sequence update:	July 5, 2017
	Last modified:	February 23, 2022
	This is version 200 of the entry and version 4 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Reference proteome

Documents

MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families

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UniProtKB - Q08874 (MITF_MOUSE)

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Microphthalmia-associated transcription factor

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Cytoplasm and Cytosol

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Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

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Keywords - Diseasei

Chemistry databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

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Coiled coil

Compositional bias

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

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Chemistry databases

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Proteomic databases

Protocols and materials databases

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Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ