Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 188 (16 Oct 2019)
Sequence version 4 (05 Jul 2017)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Microphthalmia-associated transcription factor

Gene

Mitf

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-MMU-3232118 SUMOylation of transcription factors

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Microphthalmia-associated transcription factor
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:Mitf
Synonyms:Bw, Mi, Vit
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiMus musculus (Mouse)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri10090 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000000589 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Mouse genome database (MGD) from Mouse Genome Informatics (MGI)

More...
MGIi
MGI:104554 Mitf

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi367 – 369EQQ → AAA: Changes the structure of the leucine zipper and thereby confers the ability to form heterodimers with MAX. 1 Publication3

Keywords - Diseasei

Deafness, Disease mutation

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1075142

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001272771 – 526Microphthalmia-associated transcription factorAdd BLAST526

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei180Phosphoserine; by MAPKBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki289Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei405Phosphoserine; by GSK3By similarity1
Modified residuei414PhosphoserineCombined sources1
Cross-linki423Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei491PhosphoserineBy similarity1
Modified residuei516Phosphoserine; by RPS6KA1By similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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 (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

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q08874

PeptideAtlas

More...
PeptideAtlasi
Q08874

PRoteomics IDEntifications database

More...
PRIDEi
Q08874

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q08874

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q08874

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSMUSG00000035158 Expressed in 261 organ(s), highest expression level in pineal body

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q08874 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q08874 MM

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
201427, 10 interactors

Protein interaction database and analysis system

More...
IntActi
Q08874, 1 interactor

Molecular INTeraction database

More...
MINTi
Q08874

STRING: functional protein association networks

More...
STRINGi
10090.ENSMUSP00000044938

<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

1526
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q08874

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini311 – 364bHLHPROSITE-ProRule annotationAdd BLAST54

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni224 – 291TransactivationBy similarityAdd BLAST68
Regioni374 – 395Leucine-zipper1 PublicationAdd BLAST22
Regioni401 – 431DNA binding regulationBy similarityAdd BLAST31

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili355 – 401Sequence analysisAdd BLAST47

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<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

Belongs to the MiT/TFE family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1318 Eukaryota
ENOG4110SME LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156326

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q08874

KEGG Orthology (KO)

More...
KOi
K09455

Identification of Orthologs from Complete Genome Data

More...
OMAi
PAKMGSK

Database of Orthologous Groups

More...
OrthoDBi
1211990at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q08874

TreeFam database of animal gene trees

More...
TreeFami
TF317174

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR021802 MiT/TFE_C
IPR031867 MiT/TFE_N
IPR030532 MITF

The PANTHER Classification System

More...
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

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (9+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 9 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 9 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>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.

« 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 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA3CB0E4F27C8DCDB
GO
Isoform A1 (identifier: Q08874-2) [UniParc]FASTAAdd to basket

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

Show »
Length:470
Mass (Da):52,746
Checksum:i7026C08084259180
GO
Isoform A2 (identifier: Q08874-3) [UniParc]FASTAAdd to basket

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

Show »
Length:419
Mass (Da):46,815
Checksum:i22F23451EE2F989B
GO
Isoform H (identifier: Q08874-4) [UniParc]FASTAAdd to basket

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

Show »
Length:510
Mass (Da):56,818
Checksum:i47CD5802DDA9686D
GO
Isoform H1 (identifier: Q08874-5) [UniParc]FASTAAdd to basket

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

Show »
Length:374
Mass (Da):41,773
Checksum:iD86B5FC7B42F1E1D
GO
Isoform H2 (identifier: Q08874-6) [UniParc]FASTAAdd 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

Show »
Length:349
Mass (Da):38,906
Checksum:i950EA84CF9E74FD0
GO
Isoform H3 (identifier: Q08874-7) [UniParc]FASTAAdd to basket

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

Show »
Length:454
Mass (Da):50,958
Checksum:i47A5D6D453DC69CB
GO
Isoform M (identifier: Q08874-8) [UniParc]FASTAAdd to basket

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

Show »
Length:419
Mass (Da):46,769
Checksum:i2620A6F93CDED178
GO
Isoform M1 (identifier: Q08874-9) [UniParc]FASTAAdd to basket

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

Show »
Length:413
Mass (Da):46,136
Checksum:iC1A44A4D643E435B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PZ28E9PZ28_MOUSE
Microphthalmia-associated transcrip...
Mitf
501Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0N4SV79A0A0N4SV79_MOUSE
Microphthalmia-associated transcrip...
Mitf
357Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RCW2D6RCW2_MOUSE
Microphthalmia-associated transcrip...
Mitf
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti9A → P in AAF81266 (PubMed:10790403).1
Sequence conflicti9A → P in AAF81267 (PubMed:10790403).1
Sequence conflicti9A → P in AAF81268 (PubMed:10790403).1
Sequence conflicti9A → P in AAF81269 (PubMed:10790403).1
Sequence conflicti9A → P in AAF81270 (PubMed:10790403).1
Sequence conflicti9A → P in AAF81271 (PubMed:10790403).1
Sequence conflicti9A → P in AAF81272 (PubMed:10790403).1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural varianti36 – 118Missing in microphthalmia-red-eyed white/mi-rw. Add BLAST83
Natural varianti119 – 254Missing in microphthalmia-white spot/mi-ws. 1 PublicationAdd BLAST136
Natural varianti139 – 194Missing in microphthalmia-black and white spot/mi-bws. Add BLAST56
Natural varianti294 – 319ACIFP…NHNLI → V in microphthalmia-eyeless-white/mi-ew. Add BLAST26
Natural varianti294 – 299Missing in microphthalmia-spotted/mi-sp. 6
Natural varianti319I → N in microphthalmia-white/mi-wh. 1
Natural varianti323Missing in microphthalmia/mi. 1 Publication1
Natural varianti329D → N in microphthalmia-vitiligo/mi-vi. 1
Natural varianti370 – 526Missing in microphthalmia-cloudy-eyed/mi-ce and microphthalmia-defective iris/mi-di. Add BLAST157

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0021301 – 118MQSES…MEVLK → MLEMLEYSHYQ in isoform M and isoform M1. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_0021291 – 35MQSES…PLKSS → MEALRFEMLIPCSFESLCL in isoform H, isoform H1, isoform H2 and isoform H3. CuratedAdd BLAST35
Alternative sequenceiVSP_002132119 – 254Missing in isoform H1 and isoform H2. CuratedAdd BLAST136
Alternative sequenceiVSP_002131119 – 222Missing in isoform A2. CuratedAdd BLAST104
Alternative sequenceiVSP_002133139 – 194Missing in isoform A1 and isoform H3. CuratedAdd BLAST56
Alternative sequenceiVSP_002135294 – 319ACIFP…NHNLI → V in isoform H2. CuratedAdd BLAST26
Alternative sequenceiVSP_002134294 – 299Missing in isoform A2 and isoform M1. 1 Publication6
Alternative sequenceiVSP_002136318 – 319LI → LSKFV in isoform A2. Curated2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Z23066 mRNA Translation: CAA80600.1
AF222344 Genomic DNA Translation: AAF63466.1
AF222959
, AF222949, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA Translation: AAF81266.2
AF222959
, AF222950, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA Translation: AAF81267.2
AF222959
, AF222950, AF222951, AF222956, AF222957, AF222958 Genomic DNA Translation: AAF81268.2
AF222959
, AF222950, AF222951, AF222956, AF222958 Genomic DNA Translation: AAF81269.2
AF222959
, AF222950, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA Translation: AAF81270.2
AF222959
, AF222949, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA Translation: AAF81271.2
AF222959
, AF222949, AF222951, AF222955, AF222956, AF222957, 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]

Protein sequence database of the Protein Information Resource

More...
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

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENSMUST00000043628; ENSMUSP00000044459; ENSMUSG00000035158 [Q08874-8]
ENSMUST00000043637; ENSMUSP00000044938; ENSMUSG00000035158 [Q08874-1]
ENSMUST00000101123; ENSMUSP00000098683; ENSMUSG00000035158 [Q08874-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
17342

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
mmu:17342

UCSC genome browser

More...
UCSCi
uc009daz.2 mouse

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z23066 mRNA Translation: CAA80600.1
AF222344 Genomic DNA Translation: AAF63466.1
AF222959
, AF222949, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA Translation: AAF81266.2
AF222959
, AF222950, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA Translation: AAF81267.2
AF222959
, AF222950, AF222951, AF222956, AF222957, AF222958 Genomic DNA Translation: AAF81268.2
AF222959
, AF222950, AF222951, AF222956, AF222958 Genomic DNA Translation: AAF81269.2
AF222959
, AF222950, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA Translation: AAF81270.2
AF222959
, AF222949, AF222951, AF222953, AF222954, AF222955, AF222956, AF222957, AF222958 Genomic DNA Translation: AAF81271.2
AF222959
, AF222949, AF222951, AF222955, AF222956, AF222957, 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
CCDSiCCDS20385.1 [Q08874-8]
CCDS51861.1 [Q08874-1]
CCDS51862.1 [Q08874-4]
PIRiA40728
I49244
PD0026
RefSeqiNP_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 entryMethodResolution (Å)ChainPositionsPDBsum
4ATHX-ray1.95A/B324-403[»]
4ATIX-ray2.60A/B287-403[»]
4ATKX-ray2.95A/B287-403[»]
6FX5X-ray2.05A/B324-403[»]
6G1LX-ray2.40A287-403[»]
SMRiQ08874
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi201427, 10 interactors
IntActiQ08874, 1 interactor
MINTiQ08874
STRINGi10090.ENSMUSP00000044938

Chemistry databases

ChEMBLiCHEMBL1075142

PTM databases

iPTMnetiQ08874
PhosphoSitePlusiQ08874

Proteomic databases

PaxDbiQ08874
PeptideAtlasiQ08874
PRIDEiQ08874

Genome annotation databases

EnsembliENSMUST00000043628; ENSMUSP00000044459; ENSMUSG00000035158 [Q08874-8]
ENSMUST00000043637; ENSMUSP00000044938; ENSMUSG00000035158 [Q08874-1]
ENSMUST00000101123; ENSMUSP00000098683; ENSMUSG00000035158 [Q08874-4]
GeneIDi17342
KEGGimmu:17342
UCSCiuc009daz.2 mouse

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4286
MGIiMGI:104554 Mitf

Phylogenomic databases

eggNOGiKOG1318 Eukaryota
ENOG4110SME LUCA
GeneTreeiENSGT00940000156326
InParanoidiQ08874
KOiK09455
OMAiPAKMGSK
OrthoDBi1211990at2759
PhylomeDBiQ08874
TreeFamiTF317174

Enzyme and pathway databases

ReactomeiR-MMU-3232118 SUMOylation of transcription factors

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
Mitf mouse

Protein Ontology

More...
PROi
PR:Q08874

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSMUSG00000035158 Expressed in 261 organ(s), highest expression level in pineal body
ExpressionAtlasiQ08874 baseline and differential
GenevisibleiQ08874 MM

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR021802 MiT/TFE_C
IPR031867 MiT/TFE_N
IPR030532 MITF
PANTHERiPTHR45776:SF4 PTHR45776:SF4, 1 hit
PfamiView protein in Pfam
PF11851 DUF3371, 1 hit
PF00010 HLH, 1 hit
PF15951 MITF_TFEB_C_3_N, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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 subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMITF_MOUSE
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q08874
Secondary accession number(s): A0A0N4SVJ5
, O08885, O88203, Q08843, Q3U2D2, Q60781, Q60782, Q9JIJ0, Q9JIJ1, Q9JIJ2, Q9JIJ3, Q9JIJ4, Q9JIJ5, Q9JIJ6, Q9JKX9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: July 5, 2017
Last modified: October 16, 2019
This is version 188 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

<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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again