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). 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.4 Publications

GO - Molecular functionⁱ

chromatin binding Source: Ensembl
E-box binding
Source: UniProtKB
Inferred from direct assayⁱ
- 27889061
protein dimerization activity Source: Ensembl
RNA polymerase II proximal promoter sequence-specific DNA binding
Source: NTNU_SB
Inferred from direct assayⁱ
- 14737107
RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 20530484
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding
Source: BHF-UCL
Non-traceable author statementⁱ
- 24769727
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

bone remodeling Source: Ensembl
camera-type eye development Source: Ensembl
canonical Wnt signaling pathway involved in negative regulation of apoptotic process Source: Ensembl
cell fate commitment Source: Ensembl
melanocyte differentiation Source: GO_Central
negative regulation of cell migration
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19188590
negative regulation of transcription by RNA polymerase II
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 24769727
osteoclast differentiation Source: Ensembl
positive regulation of DNA-templated transcription, initiation
Source: CACAO
Inferred from direct assayⁱ
- 12204775
- 8995290
positive regulation of gene expression
Source: CACAO
Inferred from direct assayⁱ
- 22234890
positive regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
- 9647758
positive regulation of transcription by RNA polymerase II
Source: UniProtKB
Inferred from direct assayⁱ
- 20530484
- 21209915
protein-containing complex assembly
Source: UniProtKB
Inferred from direct assayⁱ
- 20530484
regulation of cell proliferation Source: Ensembl
regulation of osteoclast differentiation Source: Ensembl
regulation of RNA biosynthetic process
Source: CACAO
Inferred from direct assayⁱ
- 16411896
regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 27889061

View the complete GO annotation on QuickGO ...

Keywordsⁱ

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

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3232118 SUMOylation of transcription factors
SignaLinkⁱ	O75030
SIGNORⁱ	O75030

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Microphthalmia-associated transcription factor Alternative name(s): Class E basic helix-loop-helix protein 32 Short name: bHLHe32
Gene namesⁱ	Name:MITF Synonyms:BHLHE32
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [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 › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 3

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000187098.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:7105 MITF
MIMⁱ	156845 gene
neXtProtⁱ	NX_O75030

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Waardenburg syndrome 2A (WS2A)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionWS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.

Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis.

Tietz albinism-deafness syndrome (TADS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_010298	317	N → K in TADS. 1 PublicationCorresponds to variant dbSNP:rs104893745Ensembl.		1

Melanoma, cutaneous malignant 8 (CMM8)2 Publications

Disease susceptibility is associated with variations affecting the gene represented in this entry.

Disease descriptionA malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_067367	425	E → K in CMM8; associated with disease susceptibility; also associated with pheochromocytomas and paragangliomas susceptibility; results in impaired sumoylation. 3 PublicationsCorresponds to variant dbSNP:rs149617956Ensembl.		1

Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)1 Publication

The disease is caused by mutations affecting the gene represented in this entry. An allelic combination involving at least one dominant-negative mutation, inherited in a recessive manner, represents the underlying molecular mechanism leading to COMMAD syndrome.1 Publication

Disease descriptionAn autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_077922	313	K → N in COMMAD; has both cytoplasmic and nuclear localization; decreased binding to M-box or E-box DNA sequences. 1 PublicationCorresponds to variant dbSNP:rs1057519325Ensembl.		1
Natural variantⁱVAR_077923	324	R → G in COMMAD. 1 PublicationCorresponds to variant dbSNP:rs1057519326Ensembl.		1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	180	S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-516. 1 Publication	1
Mutagenesisⁱ	289	K → R: Loss of sumoylation; when associated with R-423. 1 Publication	1
Mutagenesisⁱ	405	S → A or P: Loss of phosphorylation and function. 1 Publication	1
Mutagenesisⁱ	423	K → R: Loss of sumoylation; when associated with R-289. 1 Publication	1
Mutagenesisⁱ	516	S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-180. 1 Publication	1

Keywords - Diseaseⁱ

Albinism, Deafness, Disease mutation, Microphthalmia, Osteopetrosis, Waardenburg syndrome

Organism-specific databases

DisGeNET More...DisGeNETⁱ	4286
MalaCards human disease database More...MalaCardsⁱ	MITF
MIMⁱ	103470 phenotype 103500 phenotype 193510 phenotype 614456 phenotype 617306 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000187098
Orphanetⁱ	404511 Clear cell papillary renal cell carcinoma 293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome 352740 Ocular albinism with congenital sensorineural deafness 319298 Papillary renal cell carcinoma 42665 Tietz syndrome 895 Waardenburg syndrome type 2
PharmGKBⁱ	PA30823

Chemistry databases

ChEMBLⁱ	CHEMBL1741165

ChEMBLⁱ

CHEMBL1741165

Polymorphism and mutation databases

BioMutaⁱ	MITF

BioMutaⁱ

MITF

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000127276	1 – 526	Microphthalmia-associated transcription factorAdd BLAST		526

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	180	Phosphoserine; by MAPK1 Publication	1
Cross-linkⁱ	289	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residueⁱ	405	Phosphoserine; by GSK31 Publication	1
Modified residueⁱ	414	PhosphoserineCombined sources	1
Cross-linkⁱ	423	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residueⁱ	491	PhosphoserineCombined sources	1
Modified residueⁱ	516	Phosphoserine; by RPS6KA11 Publication	1

Post-translational modificationⁱ

Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. Phosphorylated at Ser-180 and Ser-516 following KIT signaling, trigerring 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.2 Publications

Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation.1 Publication

Keywords - PTMⁱ

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O75030
PaxDbⁱ	O75030
PeptideAtlas More...PeptideAtlasⁱ	O75030
PRIDEⁱ	O75030
ProteomicsDBⁱ	49704 49705 [O75030-10] 49706 [O75030-2] 49707 [O75030-3] 49708 [O75030-4] 49709 [O75030-5] 49710 [O75030-6] 49711 [O75030-7] 49712 [O75030-8] 49713 [O75030-9]

PTM databases

iPTMnetⁱ	O75030
PhosphoSitePlusⁱ	O75030

Miscellaneous databases

PMAP-CutDBⁱ	O75030

PMAP-CutDBⁱ

O75030

Expressionⁱ

Tissue specificityⁱ

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.2 Publications

Gene expression databases

Bgeeⁱ	ENSG00000187098 Expressed in 237 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_MITF
ExpressionAtlasⁱ	O75030 baseline and differential
Genevisibleⁱ	O75030 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB002578 HPA003259

HPAⁱ

CAB002578
HPA003259

Interactionⁱ

Subunit structureⁱ

Homodimer or heterodimer; dimerization is mediated via the coiled coil region (PubMed:24631970). Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC. Interacts with KARS (PubMed:14975237). Identified in a complex with HINT1 and CTNNB1 (PubMed:22647378).3 Publications

GO - Molecular functionⁱ

protein dimerization activity Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	110432, 28 interactors
Database of interacting proteins More...DIPⁱ	DIP-59573N
IntActⁱ	O75030, 7 interactors
Molecular INTeraction database More...MINTⁱ	O75030
STRINGⁱ	9606.ENSP00000295600

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Helixⁱ	357 – 401	Combined sources		45

Show more details

3D structure databases

ProteinModelPortalⁱ	O75030
SMRⁱ	O75030
ModBaseⁱ	Search...
MobiDBⁱ	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	224 – 295	TransactivationAdd BLAST	72
Regionⁱ	374 – 395	Leucine-zipper1 PublicationAdd BLAST	22
Regionⁱ	401 – 431	DNA binding regulationAdd BLAST	31

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	355 – 402	1 PublicationAdd BLAST		48

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 ENOG4110SME LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000004402
HOGENOMⁱ	HOG000231368
HOVERGENⁱ	HBG006768
InParanoidⁱ	O75030
KEGG Orthology (KO) More...KOⁱ	K09455
OMAⁱ	MEDTDHA
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0QCO
PhylomeDBⁱ	O75030
TreeFamⁱ	TF317174

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00083 HLH, 1 hit
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	PTHR12565:SF91 PTHR12565:SF91, 2 hits
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 (12+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 12 isoformsⁱ produced by alternative splicing. Align Add to basket

Note: The X2-type isoforms differ from the X1-type isoforms by the absence of a 6 residue insert.

This entry has 12 described isoforms and 6 potential isoforms that are computationally mapped.Show all Align All

Isoform A1 (identifier: O75030-1) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS 
        60         70         80         90        100
SSMTSRILLR QQLMREQMQE QERREQQQKL QAAQFMQQRV PVSQTPAINV 
       110        120        130        140        150
SVPTTLPSAT QVPMEVLKVQ THLENPTKYH IQQAQRQQVK QYLSTTLANK 
       160        170        180        190        200
HANQVLSLPC PNQPGDHVMP PVPGSSAPNS PMAMLTLNSN CEKEGFYKFE 
       210        220        230        240        250
EQNRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE ILGLMDPALQ 
       260        270        280        290        300
MANTLPVSGN LIDLYGNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE 
       310        320        330        340        350
SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK 
       360        370        380        390        400
GTILKASVDY IRKLQREQQR AKELENRQKK LEHANRHLLL RIQELEMQAR 
       410        420        430        440        450
AHGLSLIPST GLCSPDLVNR IIKQEPVLEN CSQDLLQHHA DLTCTTTLDL 
       460        470        480        490        500
TDGTITFNNN LGTGTEANQA YSVPTKMGSK LEDILMDDTL SPVGVTDPLL 
       510        520 
SSVSPGASKT SSRRSSMSME ETEHTC

Length:526

Mass (Da):58,795

Last modified:February 21, 2001 - v2

Checksum:ⁱ136EBED3044C1986

GO

Isoform A2 (identifier: O75030-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
294-299: Missing.

« Hide

        10         20         30         40         50
MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS 
        60         70         80         90        100
SSMTSRILLR QQLMREQMQE QERREQQQKL QAAQFMQQRV PVSQTPAINV 
       110        120        130        140        150
SVPTTLPSAT QVPMEVLKVQ THLENPTKYH IQQAQRQQVK QYLSTTLANK 
       160        170        180        190        200
HANQVLSLPC PNQPGDHVMP PVPGSSAPNS PMAMLTLNSN CEKEGFYKFE 
       210        220        230        240        250
EQNRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE ILGLMDPALQ 
       260        270        280        290        300
MANTLPVSGN LIDLYGNQGL PPPGLTISNS CPANLPNIKR ELTESEARAL 
       310        320        330        340        350
AKERQKKDNH NLIERRRRFN INDRIKELGT LIPKSNDPDM RWNKGTILKA 
       360        370        380        390        400
SVDYIRKLQR EQQRAKELEN RQKKLEHANR HLLLRIQELE MQARAHGLSL 
       410        420        430        440        450
IPSTGLCSPD LVNRIIKQEP VLENCSQDLL QHHADLTCTT TLDLTDGTIT 
       460        470        480        490        500
FNNNLGTGTE ANQAYSVPTK MGSKLEDILM DDTLSPVGVT DPLLSSVSPG 
       510        520
ASKTSSRRSS MSMEETEHTC

Show »

Length:520

Mass (Da):58,163

Checksum:ⁱDEE08CB1E59B9511

GO

Isoform B1 (identifier: O75030-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MLYAFWFSH

« Hide

        10         20         30         40         50
MLYAFWFSHS SSAEHPGASK PPISSSSMTS RILLRQQLMR EQMQEQERRE 
        60         70         80         90        100
QQQKLQAAQF MQQRVPVSQT PAINVSVPTT LPSATQVPME VLKVQTHLEN 
       110        120        130        140        150
PTKYHIQQAQ RQQVKQYLST TLANKHANQV LSLPCPNQPG DHVMPPVPGS 
       160        170        180        190        200
SAPNSPMAML TLNSNCEKEG FYKFEEQNRA ESECPGMNTH SRASCMQMDD 
       210        220        230        240        250
VIDDIISLES SYNEEILGLM DPALQMANTL PVSGNLIDLY GNQGLPPPGL 
       260        270        280        290        300
TISNSCPANL PNIKRELTAC IFPTESEARA LAKERQKKDN HNLIERRRRF 
       310        320        330        340        350
NINDRIKELG TLIPKSNDPD MRWNKGTILK ASVDYIRKLQ REQQRAKELE 
       360        370        380        390        400
NRQKKLEHAN RHLLLRIQEL EMQARAHGLS LIPSTGLCSP DLVNRIIKQE 
       410        420        430        440        450
PVLENCSQDL LQHHADLTCT TTLDLTDGTI TFNNNLGTGT EANQAYSVPT 
       460        470        480        490        500
KMGSKLEDIL MDDTLSPVGV TDPLLSSVSP GASKTSSRRS SMSMEETEHT 

C

Show »

Length:501

Mass (Da):56,038

Checksum:ⁱ57BB6D9C60C50A76

GO

Isoform B2 (identifier: O75030-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MLYAFWFSH
294-299: Missing.

« Hide

        10         20         30         40         50
MLYAFWFSHS SSAEHPGASK PPISSSSMTS RILLRQQLMR EQMQEQERRE 
        60         70         80         90        100
QQQKLQAAQF MQQRVPVSQT PAINVSVPTT LPSATQVPME VLKVQTHLEN 
       110        120        130        140        150
PTKYHIQQAQ RQQVKQYLST TLANKHANQV LSLPCPNQPG DHVMPPVPGS 
       160        170        180        190        200
SAPNSPMAML TLNSNCEKEG FYKFEEQNRA ESECPGMNTH SRASCMQMDD 
       210        220        230        240        250
VIDDIISLES SYNEEILGLM DPALQMANTL PVSGNLIDLY GNQGLPPPGL 
       260        270        280        290        300
TISNSCPANL PNIKRELTES EARALAKERQ KKDNHNLIER RRRFNINDRI 
       310        320        330        340        350
KELGTLIPKS NDPDMRWNKG TILKASVDYI RKLQREQQRA KELENRQKKL 
       360        370        380        390        400
EHANRHLLLR IQELEMQARA HGLSLIPSTG LCSPDLVNRI IKQEPVLENC 
       410        420        430        440        450
SQDLLQHHAD LTCTTTLDLT DGTITFNNNL GTGTEANQAY SVPTKMGSKL 
       460        470        480        490 
EDILMDDTLS PVGVTDPLLS SVSPGASKTS SRRSSMSMEE TEHTC

Show »

Length:495

Mass (Da):55,405

Checksum:ⁱ8D10FAE2E7A855FD

GO

Isoform C1 (identifier: O75030-5) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSR

« Hide

        10         20         30         40         50
MGHLENTSVV FPRAIFSLCE KETRKLTLCL FSRSSSAEHP GASKPPISSS 
        60         70         80         90        100
SMTSRILLRQ QLMREQMQEQ ERREQQQKLQ AAQFMQQRVP VSQTPAINVS 
       110        120        130        140        150
VPTTLPSATQ VPMEVLKVQT HLENPTKYHI QQAQRQQVKQ YLSTTLANKH 
       160        170        180        190        200
ANQVLSLPCP NQPGDHVMPP VPGSSAPNSP MAMLTLNSNC EKEGFYKFEE 
       210        220        230        240        250
QNRAESECPG MNTHSRASCM QMDDVIDDII SLESSYNEEI LGLMDPALQM 
       260        270        280        290        300
ANTLPVSGNL IDLYGNQGLP PPGLTISNSC PANLPNIKRE LTACIFPTES 
       310        320        330        340        350
EARALAKERQ KKDNHNLIER RRRFNINDRI KELGTLIPKS NDPDMRWNKG 
       360        370        380        390        400
TILKASVDYI RKLQREQQRA KELENRQKKL EHANRHLLLR IQELEMQARA 
       410        420        430        440        450
HGLSLIPSTG LCSPDLVNRI IKQEPVLENC SQDLLQHHAD LTCTTTLDLT 
       460        470        480        490        500
DGTITFNNNL GTGTEANQAY SVPTKMGSKL EDILMDDTLS PVGVTDPLLS 
       510        520 
SVSPGASKTS SRRSSMSMEE TEHTC

Show »

Length:525

Mass (Da):58,664

Checksum:ⁱE9976026708CA76E

GO

Isoform C2 (identifier: O75030-6) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-34: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKS → MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSR
294-299: Missing.

« Hide

        10         20         30         40         50
MGHLENTSVV FPRAIFSLCE KETRKLTLCL FSRSSSAEHP GASKPPISSS 
        60         70         80         90        100
SMTSRILLRQ QLMREQMQEQ ERREQQQKLQ AAQFMQQRVP VSQTPAINVS 
       110        120        130        140        150
VPTTLPSATQ VPMEVLKVQT HLENPTKYHI QQAQRQQVKQ YLSTTLANKH 
       160        170        180        190        200
ANQVLSLPCP NQPGDHVMPP VPGSSAPNSP MAMLTLNSNC EKEGFYKFEE 
       210        220        230        240        250
QNRAESECPG MNTHSRASCM QMDDVIDDII SLESSYNEEI LGLMDPALQM 
       260        270        280        290        300
ANTLPVSGNL IDLYGNQGLP PPGLTISNSC PANLPNIKRE LTESEARALA 
       310        320        330        340        350
KERQKKDNHN LIERRRRFNI NDRIKELGTL IPKSNDPDMR WNKGTILKAS 
       360        370        380        390        400
VDYIRKLQRE QQRAKELENR QKKLEHANRH LLLRIQELEM QARAHGLSLI 
       410        420        430        440        450
PSTGLCSPDL VNRIIKQEPV LENCSQDLLQ HHADLTCTTT LDLTDGTITF 
       460        470        480        490        500
NNNLGTGTEA NQAYSVPTKM GSKLEDILMD DTLSPVGVTD PLLSSVSPGA 
       510 
SKTSSRRSSM SMEETEHTC

Show »

Length:519

Mass (Da):58,031

Checksum:ⁱ90083765F3F0AA7C

GO

Isoform H1 (identifier: O75030-7) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MEALRVQMFM PCSFESLYLS SAEHPGASKP PISSSSMTSR ILLRQQLMRE 
        60         70         80         90        100
QMQEQERREQ QQKLQAAQFM QQRVPVSQTP AINVSVPTTL PSATQVPMEV 
       110        120        130        140        150
LKVQTHLENP TKYHIQQAQR QQVKQYLSTT LANKHANQVL SLPCPNQPGD 
       160        170        180        190        200
HVMPPVPGSS APNSPMAMLT LNSNCEKEGF YKFEEQNRAE SECPGMNTHS 
       210        220        230        240        250
RASCMQMDDV IDDIISLESS YNEEILGLMD PALQMANTLP VSGNLIDLYG 
       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
EQQRAKELEN RQKKLEHANR HLLLRIQELE MQARAHGLSL IPSTGLCSPD 
       410        420        430        440        450
LVNRIIKQEP VLENCSQDLL QHHADLTCTT TLDLTDGTIT FNNNLGTGTE 
       460        470        480        490        500
ANQAYSVPTK MGSKLEDILM DDTLSPVGVT DPLLSSVSPG ASKTSSRRSS 
       510
MSMEETEHTC

Show »

Length:510

Mass (Da):57,045

Checksum:ⁱ19568959E6CBC288

GO

Isoform H2 (identifier: O75030-8) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-35: MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSS → MEALRVQMFMPCSFESLYL
294-299: Missing.

« Hide

        10         20         30         40         50
MEALRVQMFM PCSFESLYLS SAEHPGASKP PISSSSMTSR ILLRQQLMRE 
        60         70         80         90        100
QMQEQERREQ QQKLQAAQFM QQRVPVSQTP AINVSVPTTL PSATQVPMEV 
       110        120        130        140        150
LKVQTHLENP TKYHIQQAQR QQVKQYLSTT LANKHANQVL SLPCPNQPGD 
       160        170        180        190        200
HVMPPVPGSS APNSPMAMLT LNSNCEKEGF YKFEEQNRAE SECPGMNTHS 
       210        220        230        240        250
RASCMQMDDV IDDIISLESS YNEEILGLMD PALQMANTLP VSGNLIDLYG 
       260        270        280        290        300
NQGLPPPGLT ISNSCPANLP NIKRELTESE ARALAKERQK KDNHNLIERR 
       310        320        330        340        350
RRFNINDRIK ELGTLIPKSN DPDMRWNKGT ILKASVDYIR KLQREQQRAK 
       360        370        380        390        400
ELENRQKKLE HANRHLLLRI QELEMQARAH GLSLIPSTGL CSPDLVNRII 
       410        420        430        440        450
KQEPVLENCS QDLLQHHADL TCTTTLDLTD GTITFNNNLG TGTEANQAYS 
       460        470        480        490        500
VPTKMGSKLE DILMDDTLSP VGVTDPLLSS VSPGASKTSS RRSSMSMEET 

EHTC

Show »

Length:504

Mass (Da):56,412

Checksum:ⁱB5EE812DB5750430

GO

Isoform M1 (identifier: O75030-9) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MLEMLEYNHY QVQTHLENPT KYHIQQAQRQ QVKQYLSTTL ANKHANQVLS 
        60         70         80         90        100
LPCPNQPGDH VMPPVPGSSA PNSPMAMLTL NSNCEKEGFY KFEEQNRAES 
       110        120        130        140        150
ECPGMNTHSR ASCMQMDDVI DDIISLESSY NEEILGLMDP ALQMANTLPV 
       160        170        180        190        200
SGNLIDLYGN QGLPPPGLTI SNSCPANLPN IKRELTACIF PTESEARALA 
       210        220        230        240        250
KERQKKDNHN LIERRRRFNI NDRIKELGTL IPKSNDPDMR WNKGTILKAS 
       260        270        280        290        300
VDYIRKLQRE QQRAKELENR QKKLEHANRH LLLRIQELEM QARAHGLSLI 
       310        320        330        340        350
PSTGLCSPDL VNRIIKQEPV LENCSQDLLQ HHADLTCTTT LDLTDGTITF 
       360        370        380        390        400
NNNLGTGTEA NQAYSVPTKM GSKLEDILMD DTLSPVGVTD PLLSSVSPGA 
       410 
SKTSSRRSSM SMEETEHTC

Show »

Length:419

Mass (Da):46,938

Checksum:ⁱ81B2DAF59F3C26D8

GO

Isoform M2 (identifier: O75030-10) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MLEMLEYNHY QVQTHLENPT KYHIQQAQRQ QVKQYLSTTL ANKHANQVLS 
        60         70         80         90        100
LPCPNQPGDH VMPPVPGSSA PNSPMAMLTL NSNCEKEGFY KFEEQNRAES 
       110        120        130        140        150
ECPGMNTHSR ASCMQMDDVI DDIISLESSY NEEILGLMDP ALQMANTLPV 
       160        170        180        190        200
SGNLIDLYGN QGLPPPGLTI SNSCPANLPN IKRELTESEA RALAKERQKK 
       210        220        230        240        250
DNHNLIERRR RFNINDRIKE LGTLIPKSND PDMRWNKGTI LKASVDYIRK 
       260        270        280        290        300
LQREQQRAKE LENRQKKLEH ANRHLLLRIQ ELEMQARAHG LSLIPSTGLC 
       310        320        330        340        350
SPDLVNRIIK QEPVLENCSQ DLLQHHADLT CTTTLDLTDG TITFNNNLGT 
       360        370        380        390        400
GTEANQAYSV PTKMGSKLED ILMDDTLSPV GVTDPLLSSV SPGASKTSSR 
       410 
RSSMSMEETE HTC

Show »

Length:413

Mass (Da):46,305

Checksum:ⁱD1BE704770F24258

GO

Isoform Mdel (identifier: O75030-11) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: MQSESGIVPD...ATQVPMEVLK → MLEMLEYNHYQ
     139-194: Missing.
     293-298: Missing.

« Hide

        10         20         30         40         50
MLEMLEYNHY QVQTHLENPT KYHIQQAQRQ QGFYKFEEQN RAESECPGMN 
        60         70         80         90        100
THSRASCMQM DDVIDDIISL ESSYNEEILG LMDPALQMAN TLPVSGNLID 
       110        120        130        140        150
LYGNQGLPPP GLTISNSCPA NLPNIKRELT ESEARALAKE RQKKDNHNLI 
       160        170        180        190        200
ERRRRFNIND RIKELGTLIP KSNDPDMRWN KGTILKASVD YIRKLQREQQ 
       210        220        230        240        250
RAKELENRQK KLEHANRHLL LRIQELEMQA RAHGLSLIPS TGLCSPDLVN 
       260        270        280        290        300
RIIKQEPVLE NCSQDLLQHH ADLTCTTTLD LTDGTITFNN NLGTGTEANQ 
       310        320        330        340        350
AYSVPTKMGS KLEDILMDDT LSPVGVTDPL LSSVSPGASK TSSRRSSMSM 

EETEHTC

Show »

Length:357

Mass (Da):40,365

Checksum:ⁱC4072E16DBABBD76

GO

Isoform 12 (identifier: O75030-12) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-52: Missing.
293-298: Missing.

« Hide

        10         20         30         40         50
MTSRILLRQQ LMREQMQEQE RREQQQKLQA AQFMQQRVPV SQTPAINVSV 
        60         70         80         90        100
PTTLPSATQV PMEVLKVQTH LENPTKYHIQ QAQRQQVKQY LSTTLANKHA 
       110        120        130        140        150
NQVLSLPCPN QPGDHVMPPV PGSSAPNSPM AMLTLNSNCE KEGFYKFEEQ 
       160        170        180        190        200
NRAESECPGM NTHSRASCMQ MDDVIDDIIS LESSYNEEIL GLMDPALQMA 
       210        220        230        240        250
NTLPVSGNLI DLYGNQGLPP PGLTISNSCP ANLPNIKREL TESEARALAK 
       260        270        280        290        300
ERQKKDNHNL IERRRRFNIN DRIKELGTLI PKSNDPDMRW NKGTILKASV 
       310        320        330        340        350
DYIRKLQREQ QRAKELENRQ KKLEHANRHL LLRIQELEMQ ARAHGLSLIP 
       360        370        380        390        400
STGLCSPDLV NRIIKQEPVL ENCSQDLLQH HADLTCTTTL DLTDGTITFN 
       410        420        430        440        450
NNLGTGTEAN QAYSVPTKMG SKLEDILMDD TLSPVGVTDP LLSSVSPGAS 
       460 
KTSSRRSSMS MEETEHTC

Note: No experimental confirmation available.

Show »

Length:468

Mass (Da):52,527

Checksum:ⁱ3608D0683C05C79D

GO

Computationally mapped potential isoform sequencesⁱ

There are 6 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

C9JBI8	C9JBI8_HUMAN	Microphthalmia-associated transcrip... Microphthalmia-associated transcription factor	MITF	361	Annotation score:
Q8WYR3	Q8WYR3_HUMAN	Microphthalmia-associated transcrip... Microphthalmia-associated transcription factor isoform	MITF MITF-C	117	Annotation score:
C9J845	C9J845_HUMAN	Microphthalmia-associated transcrip... Microphthalmia-associated transcription factor	MITF	157	Annotation score:
C9K0S7	C9K0S7_HUMAN	Microphthalmia-associated transcrip... Microphthalmia-associated transcription factor	MITF	70	Annotation score:
A0A087WXU1	A0A087WXU1_HUMAN	Microphthalmia-associated transcrip... Microphthalmia-associated transcription factor	MITF	91	Annotation score:
E9PKJ8	E9PKJ8_HUMAN	Microphthalmia-associated transcrip... Microphthalmia-associated transcription factor	MITF	105	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	241	I → T in BAG58874 (PubMed:14702039).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_078311	294	A → T in WS2A; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_010297	310	R → K in WS2A; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_077922	313	K → N in COMMAD; has both cytoplasmic and nuclear localization; decreased binding to M-box or E-box DNA sequences. 1 PublicationCorresponds to variant dbSNP:rs1057519325Ensembl.	1
Natural variantⁱVAR_010298	317	N → K in TADS. 1 PublicationCorresponds to variant dbSNP:rs104893745Ensembl.	1
Natural variantⁱVAR_077923	324	R → G in COMMAD. 1 PublicationCorresponds to variant dbSNP:rs1057519326Ensembl.	1
Natural variantⁱVAR_010299	324	Missing in WS2A and COMMAD; does not localize to the nucleus; does not bind M-box or E-box DNA sequences; loss of function in transcriptional regulation; dominant negative effect. 2 Publications	1
Natural variantⁱVAR_010300	357	S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893744Ensembl.	1
Natural variantⁱVAR_010301	385	N → D in WS2A. 1 Publication	1
Natural variantⁱVAR_010302	405	S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893747Ensembl.	1
Natural variantⁱVAR_067367	425	E → K in CMM8; associated with disease susceptibility; also associated with pheochromocytomas and paragangliomas susceptibility; results in impaired sumoylation. 3 PublicationsCorresponds to variant dbSNP:rs149617956Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_002127	1 – 118	MQSES…MEVLK → MLEMLEYNHYQ in isoform M1, isoform M2 and isoform Mdel. 3 PublicationsAdd BLAST	118
Alternative sequenceⁱVSP_046438	1 – 52	Missing in isoform 12. 1 PublicationAdd BLAST	52
Alternative sequenceⁱVSP_002126	1 – 35	MQSES…PLKSS → MEALRVQMFMPCSFESLYL in isoform H1 and isoform H2. CuratedAdd BLAST	35
Alternative sequenceⁱVSP_002124	1 – 34	MQSES…QPLKS → MLYAFWFSH in isoform B1 and isoform B2. CuratedAdd BLAST	34
Alternative sequenceⁱVSP_002125	1 – 34	MQSES…QPLKS → MGHLENTSVVFPRAIFSLCE KETRKLTLCLFSR in isoform C1 and isoform C2. CuratedAdd BLAST	34
Alternative sequenceⁱVSP_045178	139 – 194	Missing in isoform Mdel. 1 PublicationAdd BLAST	56
Alternative sequenceⁱVSP_045179	293 – 298	Missing in isoform Mdel and isoform 12. 2 Publications	6
Alternative sequenceⁱVSP_002128	294 – 299	Missing in isoform A2, isoform B2, isoform C2, isoform H2 and isoform M2. 3 Publications	6

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AB006909 mRNA Translation: BAA32288.1 AB006989 mRNA No translation available. Z29678 mRNA Translation: CAA82775.1 GU355676 mRNA Translation: ADB90411.1 AL110195 mRNA Translation: CAB53672.1 AK296129 mRNA Translation: BAG58874.1 AC099326 Genomic DNA No translation available. AC104445 Genomic DNA No translation available. AC104449 Genomic DNA No translation available. AC124915 Genomic DNA No translation available. BC026961 mRNA Translation: AAH26961.1 BC065243 mRNA Translation: AAH65243.1 AF034755 Genomic DNA Translation: AAC39639.1 AB032359 Genomic DNA Translation: BAA95208.1 AB032358 Genomic DNA Translation: BAA95207.1 AB032357 Genomic DNA Translation: BAA95206.1 AB009608 Genomic DNA Translation: BAA95209.1 Different termination.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS2913.1 [O75030-9] CCDS43106.1 [O75030-2] CCDS43107.1 [O75030-10] CCDS46865.1 [O75030-8] CCDS46866.2 [O75030-11] CCDS54607.1 [O75030-12] CCDS87108.1 [O75030-1]
PIRⁱ	I38024 T14752
NCBI Reference Sequences More...RefSeqⁱ	NP_000239.1, NM_000248.3 [O75030-9] NP_001171896.1, NM_001184967.1 [O75030-12] NP_006713.1, NM_006722.2 [O75030-6] NP_937801.1, NM_198158.2 [O75030-10] NP_937802.1, NM_198159.2 [O75030-2] NP_937820.1, NM_198177.2 [O75030-8] NP_937821.2, NM_198178.2 [O75030-11] XP_005264811.1, XM_005264754.1 XP_005264812.1, XM_005264755.3 XP_016861933.1, XM_017006444.1 XP_016861937.1, XM_017006448.1
UniGeneⁱ	Hs.166017 Hs.618266

Genome annotation databases

Ensemblⁱ	ENST00000314557; ENSP00000324246; ENSG00000187098 [O75030-10] ENST00000314589; ENSP00000324443; ENSG00000187098 [O75030-8] ENST00000328528; ENSP00000327867; ENSG00000187098 [O75030-6] ENST00000352241; ENSP00000295600; ENSG00000187098 [O75030-2] ENST00000394351; ENSP00000377880; ENSG00000187098 [O75030-9] ENST00000448226; ENSP00000391803; ENSG00000187098 [O75030-1] ENST00000472437; ENSP00000418845; ENSG00000187098 [O75030-12] ENST00000531774; ENSP00000435909; ENSG00000187098 [O75030-11] ENST00000642352; ENSP00000494105; ENSG00000187098 [O75030-2]
GeneIDⁱ	4286
KEGGⁱ	hsa:4286
UCSC genome browser More...UCSCⁱ	uc003dnz.4 human [O75030-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O75030	Microphthalmia-associated transcription factor (Fragment)		HUMAN		408	UniRef100_O75030
O75030-5	Microphthalmia-associated transcription factor isoform (Fragment)		HUMAN		117	UniRef100_O75030-5
MITF isoform 15 (Fragment)		PANTR		117
O75030-6	Uncharacterized protein		PANPA		519	UniRef100_O75030-6
O75030-7	Uncharacterized protein		PANPA		510	UniRef100_O75030-7
O75030-9	Uncharacterized protein		PANPA		419	UniRef100_O75030-9

Protein	Similar proteins		Species	Score	Length	Source
O75030	Microphthalmia-associated transcription factor (Fragment)		HUMAN		408	UniRef90_O75030
Uncharacterized protein		RABIT		526
microphthalmia-associated transcription factor isoform X1		DELLE		526
microphthalmia-associated transcription factor isoform X1		Yangtze finless porpoise		526
Microphtalmia-associated transcription factor isoform A		PIG		526
+421
O75030-9	Uncharacterized protein		PANPA		419	UniRef90_O75030-9
Melanogenesis associated transcription factor		LOXAF		420
Microphthalmia-associated transcription factor isoform M (Fragment)		CANLF		53
Melanogenesis associated transcription factor		HORSE		419
Microphtalmia-associated transcription factor isoform M		PIG		419
+87
O75030-10	Isoform M1 of Microphthalmia-associated transcription factor		HUMAN		419	UniRef90_O75030-9
Uncharacterized protein		PANPA		419
Melanogenesis associated transcription factor		LOXAF		420
Microphthalmia-associated transcription factor isoform M (Fragment)		CANLF		53
Melanogenesis associated transcription factor		HORSE		419
+87
O75030-11	microphthalmia-associated transcription factor isoform X9		ODORO		357	UniRef90_O75030-11
microphthalmia-associated transcription factor isoform X3		TARSY		357
microphthalmia-associated transcription factor isoform X9		ERIEU		357
microphthalmia-associated transcription factor isoform X9		Enhydra lutris kenyoni		357
MITF isoform 16		PONAB		357
+29

Protein	Similar proteins		Species	Score	Length	Source
O75030	Microphthalmia-associated transcription factor		RAT		526	UniRef50_O75030
Microphthalmia-associated transcription factor	)	MOUSE		526
Microphthalmia-associated transcription factor (Fragment)		HUMAN		408
Uncharacterized protein		RHIRO		526
MITF isoform 3		PANTR		526
+880
O75030-9	Uncharacterized protein		PANPA		419	UniRef50_O75030-9
Melanogenesis associated transcription factor		LOXAF		420
Microphthalmia-associated transcription factor isoform M (Fragment)		CANLF		53
Uncharacterized protein		CAVPO		419
Melanogenesis associated transcription factor		SAIBB		419
+283
O75030-10	Isoform M1 of Microphthalmia-associated transcription factor		HUMAN		419	UniRef50_O75030-9
Uncharacterized protein		PANPA		419
Melanogenesis associated transcription factor		LOXAF		420
Microphthalmia-associated transcription factor isoform M (Fragment)		CANLF		53
Uncharacterized protein		CAVPO		419
+283
O75030-11	microphthalmia-associated transcription factor isoform X9		ERIEU		357	UniRef50_O75030-11
MITF isoform 9		PANTR		357
microphthalmia-associated transcription factor isoform X5		MESAU		357
microphthalmia-associated transcription factor isoform X3		TARSY		357
microphthalmia-associated transcription factor isoform X9		ODORO		357
+116

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AB006909 mRNA Translation: BAA32288.1 AB006989 mRNA No translation available. Z29678 mRNA Translation: CAA82775.1 GU355676 mRNA Translation: ADB90411.1 AL110195 mRNA Translation: CAB53672.1 AK296129 mRNA Translation: BAG58874.1 AC099326 Genomic DNA No translation available. AC104445 Genomic DNA No translation available. AC104449 Genomic DNA No translation available. AC124915 Genomic DNA No translation available. BC026961 mRNA Translation: AAH26961.1 BC065243 mRNA Translation: AAH65243.1 AF034755 Genomic DNA Translation: AAC39639.1 AB032359 Genomic DNA Translation: BAA95208.1 AB032358 Genomic DNA Translation: BAA95207.1 AB032357 Genomic DNA Translation: BAA95206.1 AB009608 Genomic DNA Translation: BAA95209.1 Different termination.
CCDSⁱ	CCDS2913.1 [O75030-9] CCDS43106.1 [O75030-2] CCDS43107.1 [O75030-10] CCDS46865.1 [O75030-8] CCDS46866.2 [O75030-11] CCDS54607.1 [O75030-12] CCDS87108.1 [O75030-1]
PIRⁱ	I38024 T14752
RefSeqⁱ	NP_000239.1, NM_000248.3 [O75030-9] NP_001171896.1, NM_001184967.1 [O75030-12] NP_006713.1, NM_006722.2 [O75030-6] NP_937801.1, NM_198158.2 [O75030-10] NP_937802.1, NM_198159.2 [O75030-2] NP_937820.1, NM_198177.2 [O75030-8] NP_937821.2, NM_198178.2 [O75030-11] XP_005264811.1, XM_005264754.1 XP_005264812.1, XM_005264755.3 XP_016861933.1, XM_017006444.1 XP_016861937.1, XM_017006448.1
UniGeneⁱ	Hs.166017 Hs.618266

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
	4C7N	X-ray	2.10	A	357-403	[»]
ProteinModelPortalⁱ	O75030
SMRⁱ	O75030
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	110432, 28 interactors
DIPⁱ	DIP-59573N
IntActⁱ	O75030, 7 interactors
MINTⁱ	O75030
STRINGⁱ	9606.ENSP00000295600

Chemistry databases

ChEMBLⁱ	CHEMBL1741165

ChEMBLⁱ

CHEMBL1741165

PTM databases

iPTMnetⁱ	O75030
PhosphoSitePlusⁱ	O75030

Polymorphism and mutation databases

BioMutaⁱ	MITF

BioMutaⁱ

MITF

Proteomic databases

MaxQBⁱ	O75030
PaxDbⁱ	O75030
PeptideAtlasⁱ	O75030
PRIDEⁱ	O75030
ProteomicsDBⁱ	49704 49705 [O75030-10] 49706 [O75030-2] 49707 [O75030-3] 49708 [O75030-4] 49709 [O75030-5] 49710 [O75030-6] 49711 [O75030-7] 49712 [O75030-8] 49713 [O75030-9]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000314557; ENSP00000324246; ENSG00000187098 [O75030-10] ENST00000314589; ENSP00000324443; ENSG00000187098 [O75030-8] ENST00000328528; ENSP00000327867; ENSG00000187098 [O75030-6] ENST00000352241; ENSP00000295600; ENSG00000187098 [O75030-2] ENST00000394351; ENSP00000377880; ENSG00000187098 [O75030-9] ENST00000448226; ENSP00000391803; ENSG00000187098 [O75030-1] ENST00000472437; ENSP00000418845; ENSG00000187098 [O75030-12] ENST00000531774; ENSP00000435909; ENSG00000187098 [O75030-11] ENST00000642352; ENSP00000494105; ENSG00000187098 [O75030-2]
GeneIDⁱ	4286
KEGGⁱ	hsa:4286
UCSCⁱ	uc003dnz.4 human [O75030-1]

Organism-specific databases

CTDⁱ	4286
DisGeNETⁱ	4286
EuPathDBⁱ	HostDB:ENSG00000187098.14
GeneCardsⁱ	MITF
HGNCⁱ	HGNC:7105 MITF
HPAⁱ	CAB002578 HPA003259
MalaCardsⁱ	MITF
MIMⁱ	103470 phenotype 103500 phenotype 156845 gene 193510 phenotype 614456 phenotype 617306 phenotype
neXtProtⁱ	NX_O75030
OpenTargetsⁱ	ENSG00000187098
Orphanetⁱ	404511 Clear cell papillary renal cell carcinoma 293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome 352740 Ocular albinism with congenital sensorineural deafness 319298 Papillary renal cell carcinoma 42665 Tietz syndrome 895 Waardenburg syndrome type 2
PharmGKBⁱ	PA30823
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1318 Eukaryota ENOG4110SME LUCA
GeneTreeⁱ	ENSGT00390000004402
HOGENOMⁱ	HOG000231368
HOVERGENⁱ	HBG006768
InParanoidⁱ	O75030
KOⁱ	K09455
OMAⁱ	MEDTDHA
OrthoDBⁱ	EOG091G0QCO
PhylomeDBⁱ	O75030
TreeFamⁱ	TF317174

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3232118 SUMOylation of transcription factors
SignaLinkⁱ	O75030
SIGNORⁱ	O75030

Miscellaneous databases

GeneWikiⁱ	Microphthalmia-associated_transcription_factor
GenomeRNAiⁱ	4286
PMAP-CutDBⁱ	O75030
Protein Ontology More...PROⁱ	PR:O75030
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000187098 Expressed in 237 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_MITF
ExpressionAtlasⁱ	O75030 baseline and differential
Genevisibleⁱ	O75030 HS

Family and domain databases

CDDⁱ	cd00083 HLH, 1 hit
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	PTHR12565:SF91 PTHR12565:SF91, 2 hits
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
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	MITF_HUMAN
Accessionⁱ	O75030Primary (citable) accession number: O75030 Secondary accession number(s): B4DJL2 Q9P2Y8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
	Last sequence update:	February 21, 2001
	Last modified:	October 10, 2018
	This is version 193 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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UniProtKB - O75030 (MITF_HUMAN)

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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

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Secondary structure

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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