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UniProtKB - O75030 (MITF_HUMAN)

Entry version 205 (17 Jun 2020)
Sequence version 2 (21 Feb 2001)
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Protein

Microphthalmia-associated transcription factor

Gene

MITF

Organism
Homo sapiens (Human)
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). 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

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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-HSA-3232118 SUMOylation of transcription factors

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O75030

SIGNOR Signaling Network Open Resource

More...SIGNORi		O75030

<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%5Fand%5Ftaxonomy%5Fsection">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
Alternative name(s):
Class E basic helix-loop-helix protein 32
Short name:
bHLHe32
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:BHLHE32
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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 identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000187098.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:7105 MITF

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		156845 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75030

<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

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.
Related information in OMIM
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 variantiVAR_078311294A → T in WS2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_010297310R → K in WS2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_010299324Missing 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 Publications1
Natural variantiVAR_010300357S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893744Ensembl.1
Natural variantiVAR_010301385N → D in WS2A. 1 Publication1
Natural variantiVAR_010302405S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893747Ensembl.1
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.
Related information in OMIM
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010298317N → 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067367425E → 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077922313K → 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_077923324R → G in COMMAD. 1 PublicationCorresponds to variant dbSNP:rs1057519326Ensembl.1
Natural variantiVAR_010299324Missing 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 Publications1
Variations affecting this gene are associated with susceptibility to pheochromocytomas and paragangliomas, rare neural crest-derived tumors with an approximate incidence of 1:300,000/year.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi180S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-516. 1 Publication1
Mutagenesisi289K → R: Loss of sumoylation; when associated with R-423. 1 Publication1
Mutagenesisi405S → A or P: Loss of phosphorylation and function. 1 Publication1
Mutagenesisi423K → R: Loss of sumoylation; when associated with R-289. 1 Publication1
Mutagenesisi516S → A: Abolishes both transcription factor activity and ubiquitination, leading to an inert and stable protein; when associated with A-180. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...DisGeNETi		4286

MalaCards human disease database

More...MalaCardsi		MITF
MIMi103470 phenotype
103500 phenotype
193510 phenotype
614456 phenotype
617306 phenotype

Open Targets

More...OpenTargetsi		ENSG00000187098

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		404511 Clear cell papillary renal cell carcinoma
618 Familial melanoma
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
897 Waardenburg-Shah syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30823

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75030 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1741165

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MITF

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001272761 – 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 MAPK1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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)1 Publication
Modified residuei405Phosphoserine; by GSK31 Publication1
Modified residuei414PhosphoserineCombined sources1
Cross-linki423Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei491PhosphoserineCombined sources1
Modified residuei516Phosphoserine; by RPS6KA11 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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.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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75030

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75030

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75030

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

More...PaxDbi		O75030

PeptideAtlas

More...PeptideAtlasi		O75030

PRoteomics IDEntifications database

More...PRIDEi		O75030

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		12779
20138
49704 [O75030-1]
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

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75030

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

More...PhosphoSitePlusi		O75030

<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

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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000187098 Expressed in pigmented layer of retina and 236 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75030 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75030 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000187098 Low tissue specificity

<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%5Fsection">'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%5Fsection">'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:24631970). Efficient DNA binding requires dimerization with another bHLH protein (PubMed:14975237). Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC (PubMed:15507434).

Interacts with KARS1 (PubMed:14975237).

Identified in a complex with HINT1 and CTNNB1 (PubMed:22647378).

Interacts with VSX2 (By similarity).

By similarity4 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110432, 32 interactors

Database of interacting proteins

More...DIPi		DIP-59573N

Protein interaction database and analysis system

More...IntActi		O75030, 14 interactors

Molecular INTeraction database

More...MINTi		O75030

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000295600

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75030 protein

<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		O75030

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%5Fand%5Fdomains%5Fsection">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 – 295TransactivationAdd BLAST72
Regioni374 – 395Leucine-zipper1 PublicationAdd BLAST22
Regioni401 – 431DNA binding regulationAdd 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 – 4021 PublicationAdd BLAST48

<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

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_031638_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75030

KEGG Orthology (KO)

More...KOi		K09455

Identification of Orthologs from Complete Genome Data

More...OMAi		MANTXCI

Database of Orthologous Groups

More...OrthoDBi		1211990at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75030

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%5Flength">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 (12+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 12 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd 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 allAlign All

Isoform A1 (identifier: O75030-1) [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.

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MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS 
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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
<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:i136EBED3044C1986
GO
Isoform A2 (identifier: O75030-2) [UniParc]FASTAAdd to basket

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

Show »
Length:520
Mass (Da):58,163
Checksum:iDEE08CB1E59B9511
GO
Isoform B1 (identifier: O75030-3) [UniParc]FASTAAdd to basket

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

Show »
Length:501
Mass (Da):56,038
Checksum:i57BB6D9C60C50A76
GO
Isoform B2 (identifier: O75030-4) [UniParc]FASTAAdd to basket

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

Show »
Length:495
Mass (Da):55,405
Checksum:i8D10FAE2E7A855FD
GO
Isoform C1 (identifier: O75030-5) [UniParc]FASTAAdd to basket

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

Show »
Length:525
Mass (Da):58,664
Checksum:iE9976026708CA76E
GO
Isoform C2 (identifier: O75030-6) [UniParc]FASTAAdd to basket

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

Show »
Length:519
Mass (Da):58,031
Checksum:i90083765F3F0AA7C
GO
Isoform H1 (identifier: O75030-7) [UniParc]FASTAAdd to basket

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

Show »
Length:510
Mass (Da):57,045
Checksum:i19568959E6CBC288
GO
Isoform H2 (identifier: O75030-8) [UniParc]FASTAAdd to basket

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

Show »
Length:504
Mass (Da):56,412
Checksum:iB5EE812DB5750430
GO
Isoform M1 (identifier: O75030-9) [UniParc]FASTAAdd to basket

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

Show »
Length:419
Mass (Da):46,938
Checksum:i81B2DAF59F3C26D8
GO
Isoform M2 (identifier: O75030-10) [UniParc]FASTAAdd to basket

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

Show »
Length:413
Mass (Da):46,305
Checksum:iD1BE704770F24258
GO
Isoform Mdel (identifier: O75030-11) [UniParc]FASTAAdd 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.

Show »
Length:357
Mass (Da):40,365
Checksum:iC4072E16DBABBD76
GO
Isoform 12 (identifier: O75030-12) [UniParc]FASTAAdd to basket

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

Show »
Length:468
Mass (Da):52,527
Checksum:i3608D0683C05C79D
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q8WYR3Q8WYR3_HUMAN
Microphthalmia-associated transcrip...
MITF MITF-C
117Annotation 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>
C9JBI8C9JBI8_HUMAN
Microphthalmia-associated transcrip...
MITF
361Annotation 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>
C9J845C9J845_HUMAN
Microphthalmia-associated transcrip...
MITF
157Annotation 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>
C9K0S7C9K0S7_HUMAN
Microphthalmia-associated transcrip...
MITF
70Annotation 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>
A0A087WXU1A0A087WXU1_HUMAN
Microphthalmia-associated transcrip...
MITF
91Annotation 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>
E9PKJ8E9PKJ8_HUMAN
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 conflicti241I → T in BAG58874 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078311294A → T in WS2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_010297310R → K in WS2A; unknown pathological significance. 1 Publication1
Natural variantiVAR_077922313K → 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_010298317N → K in TADS. 1 PublicationCorresponds to variant dbSNP:rs104893745Ensembl.1
Natural variantiVAR_077923324R → G in COMMAD. 1 PublicationCorresponds to variant dbSNP:rs1057519326Ensembl.1
Natural variantiVAR_010299324Missing 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 Publications1
Natural variantiVAR_010300357S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893744Ensembl.1
Natural variantiVAR_010301385N → D in WS2A. 1 Publication1
Natural variantiVAR_010302405S → P in WS2A. 1 PublicationCorresponds to variant dbSNP:rs104893747Ensembl.1
Natural variantiVAR_067367425E → 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 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_0021271 – 118MQSES…MEVLK → MLEMLEYNHYQ in isoform M1, isoform M2 and isoform Mdel. 3 PublicationsAdd BLAST118
Alternative sequenceiVSP_0464381 – 52Missing in isoform 12. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_0021261 – 35MQSES…PLKSS → MEALRVQMFMPCSFESLYL in isoform H1 and isoform H2. CuratedAdd BLAST35
Alternative sequenceiVSP_0021241 – 34MQSES…QPLKS → MLYAFWFSH in isoform B1 and isoform B2. CuratedAdd BLAST34
Alternative sequenceiVSP_0021251 – 34MQSES…QPLKS → MGHLENTSVVFPRAIFSLCE KETRKLTLCLFSR in isoform C1 and isoform C2. CuratedAdd BLAST34
Alternative sequenceiVSP_045178139 – 194Missing in isoform Mdel. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_045179293 – 298Missing in isoform Mdel and isoform 12. 2 Publications6
Alternative sequenceiVSP_002128294 – 299Missing in isoform A2, isoform B2, isoform C2, isoform H2 and isoform M2. 3 Publications6

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
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]

Protein sequence database of the Protein Information Resource

More...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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...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]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4286

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4286

UCSC genome browser

More...UCSCi		uc003dnz.4 human [O75030-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
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.
CCDSiCCDS2913.1 [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]
PIRiI38024
T14752
RefSeqiNP_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

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
4C7NX-ray2.10A357-403[»]
SMRiO75030
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110432, 32 interactors
DIPiDIP-59573N
IntActiO75030, 14 interactors
MINTiO75030
STRINGi9606.ENSP00000295600

Chemistry databases

ChEMBLiCHEMBL1741165

PTM databases

iPTMnetiO75030
PhosphoSitePlusiO75030

Polymorphism and mutation databases

BioMutaiMITF

Proteomic databases

jPOSTiO75030
MassIVEiO75030
MaxQBiO75030
PaxDbiO75030
PeptideAtlasiO75030
PRIDEiO75030
ProteomicsDBi12779
20138
49704 [O75030-1]
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

Antibodypedia a portal for validated antibodies

More...Antibodypediai		923 860 antibodies

Genome annotation databases

EnsembliENST00000314557; 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]
GeneIDi4286
KEGGihsa:4286
UCSCiuc003dnz.4 human [O75030-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4286
DisGeNETi4286
EuPathDBiHostDB:ENSG00000187098.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		MITF
HGNCiHGNC:7105 MITF
HPAiENSG00000187098 Low tissue specificity
MalaCardsiMITF
MIMi103470 phenotype
103500 phenotype
156845 gene
193510 phenotype
614456 phenotype
617306 phenotype
neXtProtiNX_O75030
OpenTargetsiENSG00000187098
Orphaneti404511 Clear cell papillary renal cell carcinoma
618 Familial melanoma
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
897 Waardenburg-Shah syndrome
PharmGKBiPA30823

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1318 Eukaryota
ENOG4110SME LUCA
GeneTreeiENSGT00940000156326
HOGENOMiCLU_031638_2_0_1
InParanoidiO75030
KOiK09455
OMAiMANTXCI
OrthoDBi1211990at2759
PhylomeDBiO75030
TreeFamiTF317174

Enzyme and pathway databases

ReactomeiR-HSA-3232118 SUMOylation of transcription factors
SignaLinkiO75030
SIGNORiO75030

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4286 19 hits in 812 CRISPR screens

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

More...ChiTaRSi		MITF human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Microphthalmia-associated_transcription_factor

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4286
PharosiO75030 Tbio

Protein Ontology

More...PROi		PR:O75030
RNActiO75030 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000187098 Expressed in pigmented layer of retina and 236 other tissues
ExpressionAtlasiO75030 baseline and differential
GenevisibleiO75030 HS

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_HUMAN
<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: O75030
Secondary accession number(s): B4DJL2
, D3K197, E9PFN0, Q14841, Q9P2V0, Q9P2V1, Q9P2V2, Q9P2Y8
<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%5Fand%5Fisoforms">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: February 21, 2001
Last modified: June 17, 2020
This is version 205 of the entry and version 2 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
DisclaimerAny 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.

<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, Reference proteome

Documents

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