Details for: MITF

Gene ID: 4286

Symbol: MITF

Ensembl ID: ENSG00000187098

Description: melanocyte inducing transcription factor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 287.0869
    Cell Significance Index: -44.6600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 179.5040
    Cell Significance Index: -45.5300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 96.7969
    Cell Significance Index: -45.7000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 94.5091
    Cell Significance Index: -38.4000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 40.3931
    Cell Significance Index: -38.5700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 36.9721
    Cell Significance Index: -45.5900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.5787
    Cell Significance Index: -45.6900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 4.6841
    Cell Significance Index: 114.2900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 4.6178
    Cell Significance Index: 118.7000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 4.5864
    Cell Significance Index: 351.9500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 3.5338
    Cell Significance Index: 68.9700
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 2.3427
    Cell Significance Index: 37.8000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 1.8068
    Cell Significance Index: 91.3100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.4671
    Cell Significance Index: 21.6600
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.2689
    Cell Significance Index: 10.3500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.1640
    Cell Significance Index: 417.5200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.0645
    Cell Significance Index: 146.1800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.6396
    Cell Significance Index: 1204.2500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.5714
    Cell Significance Index: 66.5900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.5034
    Cell Significance Index: 228.4800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.4954
    Cell Significance Index: 10.5900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4575
    Cell Significance Index: 202.2600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3064
    Cell Significance Index: 211.8900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2209
    Cell Significance Index: 28.3200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2067
    Cell Significance Index: 112.9100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1486
    Cell Significance Index: 26.7900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1314
    Cell Significance Index: 83.4300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1176
    Cell Significance Index: 1.8200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0978
    Cell Significance Index: 3.4400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.0934
    Cell Significance Index: 9.7300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0579
    Cell Significance Index: 106.8600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0392
    Cell Significance Index: 4.8200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0372
    Cell Significance Index: 7.4700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0306
    Cell Significance Index: 22.4300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0267
    Cell Significance Index: 5.0800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0146
    Cell Significance Index: 13.1500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0115
    Cell Significance Index: 17.7300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0100
    Cell Significance Index: -1.4600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0287
    Cell Significance Index: -38.9800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0342
    Cell Significance Index: -25.3400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0421
    Cell Significance Index: -26.2600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0473
    Cell Significance Index: -4.8300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0560
    Cell Significance Index: -42.4100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0575
    Cell Significance Index: -32.4400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0687
    Cell Significance Index: -11.7300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0792
    Cell Significance Index: -4.8600
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0985
    Cell Significance Index: -1.3800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.1054
    Cell Significance Index: -17.1500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1206
    Cell Significance Index: -34.6900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1331
    Cell Significance Index: -26.4200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1715
    Cell Significance Index: -36.1200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.1780
    Cell Significance Index: -19.3700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1858
    Cell Significance Index: -8.2200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2134
    Cell Significance Index: -8.0800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2372
    Cell Significance Index: -27.1800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.2542
    Cell Significance Index: -25.1500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.2848
    Cell Significance Index: -17.1000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2968
    Cell Significance Index: -8.5500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3246
    Cell Significance Index: -16.8600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3276
    Cell Significance Index: -37.4000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3312
    Cell Significance Index: -4.1300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3351
    Cell Significance Index: -43.3000
  • Cell Name: melanocyte (CL0000148)
    Fold Change: -0.3436
    Cell Significance Index: -3.2200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3548
    Cell Significance Index: -10.1700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.3728
    Cell Significance Index: -25.7800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3786
    Cell Significance Index: -9.4700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3829
    Cell Significance Index: -45.1500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3907
    Cell Significance Index: -30.9400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4057
    Cell Significance Index: -5.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.4183
    Cell Significance Index: -18.9600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4463
    Cell Significance Index: -9.6700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4509
    Cell Significance Index: -9.5700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5106
    Cell Significance Index: -26.8100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.5159
    Cell Significance Index: -28.9500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.5312
    Cell Significance Index: -35.7200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.5348
    Cell Significance Index: -32.8700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5420
    Cell Significance Index: -38.3300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.5447
    Cell Significance Index: -7.8000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.5694
    Cell Significance Index: -42.4400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.5860
    Cell Significance Index: -25.4800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.5929
    Cell Significance Index: -12.3000
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.6083
    Cell Significance Index: -7.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.6252
    Cell Significance Index: -29.1500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.6822
    Cell Significance Index: -32.0700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6852
    Cell Significance Index: -35.6900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.6988
    Cell Significance Index: -45.0800
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.7116
    Cell Significance Index: -8.9600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.7215
    Cell Significance Index: -23.1100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.7905
    Cell Significance Index: -49.8200
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.8196
    Cell Significance Index: -11.7700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.8461
    Cell Significance Index: -16.7300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.9168
    Cell Significance Index: -7.3200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.9694
    Cell Significance Index: -33.9600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.9758
    Cell Significance Index: -27.2700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.9820
    Cell Significance Index: -32.1500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.0433
    Cell Significance Index: -27.9600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.1112
    Cell Significance Index: -32.7300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -1.1271
    Cell Significance Index: -27.0300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.1327
    Cell Significance Index: -41.5800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.1381
    Cell Significance Index: -39.5500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** MITF is a transcription factor that belongs to the basic helix-loop-helix (bHLH) family of proteins. It is characterized by its ability to bind to specific DNA sequences, known as E-boxes, and regulate the transcription of target genes. MITF has a unique structure, consisting of a N-terminal domain that interacts with other transcription factors and a C-terminal domain that binds to DNA. The gene is highly conserved across species, suggesting its evolutionary importance in melanocyte biology. MITF has several key characteristics that distinguish it from other transcription factors: 1. **Specificity**: MITF is highly specific in its binding to E-box sequences, which are present in the promoters of melanocyte-specific genes. 2. **Regulatory complexity**: MITF can regulate both the activation and repression of target genes, depending on the context and the presence of other transcription factors. 3. **Diverse expression**: MITF is expressed in various cell types, including melanocytes, cardiac myocytes, and smooth muscle cells, highlighting its tissue-specific functions. **Pathways and Functions** MITF plays a central role in regulating melanocyte development, differentiation, and survival. Its functions can be broadly categorized into the following pathways: 1. **Melanogenesis**: MITF regulates the expression of genes involved in melanin production, including tyrosinase and tyrosinase-related protein 1 (TYRP1). 2. **Cell migration**: MITF promotes the migration of melanocytes during development and in response to tissue injury. 3. **Apoptosis**: MITF inhibits apoptosis in melanocytes, ensuring their survival and maintenance. 4. **Wnt signaling**: MITF interacts with Wnt signaling pathway components to regulate melanocyte development and maintenance. MITF's functions can be summarized as follows: 1. **Promotion of melanocyte development**: MITF regulates the expression of melanocyte-specific genes, promoting the development and differentiation of melanocytes. 2. **Maintenance of melanocyte survival**: MITF inhibits apoptosis in melanocytes, ensuring their survival and maintenance. 3. **Regulation of melanin production**: MITF regulates the expression of genes involved in melanin production, ensuring proper melanin synthesis and distribution. 4. **Tissue-specific functions**: MITF's expression in various cell types highlights its diverse tissue-specific functions, including regulation of cardiac myocyte and smooth muscle cell development. **Clinical Significance** MITF's dysregulation has been implicated in various human diseases, including: 1. **Albinism**: MITF mutations can lead to albinism, a group of rare genetic disorders characterized by the absence or reduction of melanin production. 2. **Melanoma**: MITF dysregulation has been implicated in melanoma development and progression, highlighting the importance of MITF in melanocyte maintenance and function. 3. **Cardiovascular disease**: MITF's expression in cardiac myocytes highlights its potential role in cardiac development and disease, including hypertension and atherosclerosis. 4. **Neurological disorders**: MITF's expression in retinal bipolar neurons and other neuronal cell types suggests its potential role in neurological disorders, including glaucoma and Parkinson's disease. In conclusion, MITF is a critical transcription factor that regulates melanocyte development, differentiation, and survival. Its dysregulation has been implicated in various human diseases, highlighting the importance of MITF in human health and disease. Further research is necessary to fully elucidate the mechanisms of MITF's action and its clinical significance.

Genular Protein ID: 629069319

Symbol: MITF_HUMAN

Name: Microphthalmia-associated transcription factor

UniProtKB Accession Codes:

O75030 B4DJL2 D3K197 E9PFN0 Q14841 Q9P2V0 Q9P2V1 Q9P2V2 Q9P2Y8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 7 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 EMBL 17 Ensembl 8 EvolutionaryTrace 1 ExpressionAtlas 1 GO 34 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 12 Pumba 1 RNAct 1 Reactome 9 RefSeq 11 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9647758

Title: Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium.

PubMed ID: 9647758

DOI: 10.1006/bbrc.1998.8838

PubMed ID: 8069297

Title: Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.

PubMed ID: 8069297

DOI: 10.1093/hmg/3.4.553

PubMed ID: 20163701

Title: Mitf-Mdel, a novel melanocyte/melanoma-specific isoform of microphthalmia-associated transcription factor-M, as a candidate biomarker for melanoma.

PubMed ID: 20163701

DOI: 10.1186/1741-7015-8-14

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10760582

Title: Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters.

PubMed ID: 10760582

DOI: 10.1016/s0167-4781(00)00051-8

PubMed ID: 10578055

Title: Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus.

PubMed ID: 10578055

DOI: 10.1093/oxfordjournals.jbchem.a022548

PubMed ID: 10673502

Title: c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi.

PubMed ID: 10673502

PubMed ID: 10587587

Title: Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance.

PubMed ID: 10587587

DOI: 10.1093/hmg/9.1.125

PubMed ID: 14975237

Title: The function of lysyl-tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI-activated mast cells.

PubMed ID: 14975237

DOI: 10.1016/s1074-7613(04)00020-2

PubMed ID: 15507434

Title: Sumoylation of MITF and its related family members TFE3 and TFEB.

PubMed ID: 15507434

DOI: 10.1074/jbc.m411757200

PubMed ID: 16822840

Title: Microphthalmia-associated transcription factor interactions with 14-3-3 modulate differentiation of committed myeloid precursors.

PubMed ID: 16822840

DOI: 10.1091/mbc.e06-05-0470

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 22647378

Title: The tumor suppressor HINT1 regulates MITF and beta-catenin transcriptional activity in melanoma cells.

PubMed ID: 22647378

DOI: 10.4161/cc.20765

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23401004

Title: Rag GTPases mediate amino acid-dependent recruitment of TFEB and MITF to lysosomes.

PubMed ID: 23401004

DOI: 10.1083/jcb.201209135

PubMed ID: 27889061

Title: Biallelic mutations in MITF cause coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.

PubMed ID: 27889061

DOI: 10.1016/j.ajhg.2016.11.004

PubMed ID: 28842328

Title: Melanocytes Sense Blue Light and Regulate Pigmentation through Opsin-3.

PubMed ID: 28842328

DOI: 10.1016/j.jid.2017.07.833

PubMed ID: 27680874

Title: The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.

PubMed ID: 27680874

DOI: 10.1210/jc.2016-2103

PubMed ID: 36608670

Title: A central role for regulated protein stability in the control of TFE3 and MITF by nutrients.

PubMed ID: 36608670

DOI: 10.1016/j.molcel.2022.12.013

PubMed ID: 24631970

Title: Improving coiled coil stability while maintaining specificity by a bacterial hitchhiker selection system.

PubMed ID: 24631970

DOI: 10.1016/j.jsb.2014.03.002

PubMed ID: 8589691

Title: The mutational spectrum in Waardenburg syndrome.

PubMed ID: 8589691

DOI: 10.1093/hmg/4.11.2131

PubMed ID: 10851256

Title: Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.

PubMed ID: 10851256

DOI: 10.1136/jmg.37.6.446

PubMed ID: 22012259

Title: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

PubMed ID: 22012259

DOI: 10.1038/nature10539

PubMed ID: 22080950

Title: A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.

PubMed ID: 22080950

DOI: 10.1038/nature10630

PubMed ID: 28236341

Title: EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

PubMed ID: 28236341

DOI: 10.1002/humu.23206

Sequence Information:

  • Length: 526
  • Mass: 58795
  • Checksum: 136EBED3044C1986
  • Sequence:
    • MQSESGIVPD FEVGEEFHEE PKTYYELKSQ PLKSSSSAEH PGASKPPISS SSMTSRILLR 
QQLMREQMQE QERREQQQKL QAAQFMQQRV PVSQTPAINV SVPTTLPSAT QVPMEVLKVQ 
THLENPTKYH IQQAQRQQVK QYLSTTLANK HANQVLSLPC PNQPGDHVMP PVPGSSAPNS 
PMAMLTLNSN CEKEGFYKFE EQNRAESECP GMNTHSRASC MQMDDVIDDI ISLESSYNEE 
ILGLMDPALQ MANTLPVSGN LIDLYGNQGL PPPGLTISNS CPANLPNIKR ELTACIFPTE 
SEARALAKER QKKDNHNLIE RRRRFNINDR IKELGTLIPK SNDPDMRWNK GTILKASVDY 
IRKLQREQQR AKELENRQKK LEHANRHLLL RIQELEMQAR AHGLSLIPST GLCSPDLVNR 
IIKQEPVLEN CSQDLLQHHA DLTCTTTLDL TDGTITFNNN LGTGTEANQA YSVPTKMGSK 
LEDILMDDTL SPVGVTDPLL SSVSPGASKT SSRRSSMSME ETEHTC

Genular Protein ID: 2565914650

Symbol: A0A087WXU1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A087WXU1

Database IDs:

ARBA 5 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 2 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

Sequence Information:

  • Length: 91
  • Mass: 10376
  • Checksum: FAC70DA01C4C3D25
  • Sequence:
    • MLEMLEYNHY QVQTHLENPT KYHIQQAQRQ QVKQYLSTTL ANKHANQVLS LPCPNQPGDH 
VMPPVPGSSA PNSPMAMLTL NSNCEKEFMK Q

Genular Protein ID: 370331010

Symbol: Q8WYR3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8WYR3

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 4 HOGENOM 1 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 ProteomicsDB 1 RefSeq 1 SAM 2 UCSC 1

Citations:

PubMed ID: 10578055

Title: Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus.

PubMed ID: 10578055

Sequence Information:

  • Length: 117
  • Mass: 13196
  • Checksum: FEE41E3128219AE5
  • Sequence:
    • MGHLENTSVV FPRAIFSLCE KETRKLTLCL FSRSSSAEHP GASKPPISSS SMTSRILLRQ 
QLMREQMQEQ ERREQQQKLQ AAQFMQQRVP VSQTPAINVS VPTTLPSATQ VPMEVLK

Genular Protein ID: 3870093068

Symbol: B4DNC7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DNC7

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 3 RefSeq 1 SAM 2 SMART 1 SUPFAM 1

Sequence Information:

  • Length: 504
  • Mass: 56355
  • Checksum: 5DD48553EE4F0567
  • Sequence:
    • MEALRVQMFM PCSFESLYLS SAEHPGASKP PISSSSMTSR ILLRQQLMRE QMQEQERREQ 
QQKLQAAQFM QQRVPVSQTP AINVSVPTTL PSATQVPMEV LKVQTHLENP TKYHIQQAQR 
QQVKQYLSTT LANKHANQVL SLPCPNQPGD HVMPPVPGSS APNSPMAMLT LNSNCEKEGF 
YKFEEQNRAE SECPGMNTHS RASCMQMDDV IDDIISLESS YNEEILGLMG PALQMANTLP 
VSGNLIDLYG NQGLPPPGLT ISNSCPANLP NIKRELTESE ARALAKERQK KDNHNLIERR 
RRFNINDRIK ELGTLIPKSD DPDMRWNKGT ILKASVDYIR KLQREQQRAK ELENRQKKLE 
HANRHLLLRI QELEMQARAH GLSLIPSTGL CSPDLVNRII KQEPVLENCS QDLLQHHADL 
TCTTTLDLTD GTITFNNNLG TGTEANQAYS VPTKMGSKLE DILMDDTLSP VGVTDPLLSS 
VSPGASKTSS RRSSMSMEET EHTC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.