TFEB - transcription factor EB Gene
Also Known as TCFEB; BHLHE35; ALPHATFEB
Species: Homo sapiens
About TFEB
This gene has 19 transcripts (splice variants), 204 orthologues, 3 paralogues and is associated with 60 phenotypes. Ubiquitous expression in spleen (RPKM 9.7), lymph node (RPKM 8.3) and 25 other tissues.
Summary
Enables DNA-binding transcription factor activity; enzyme binding activity; and transcription cis-regulatory region binding activity. Involved in several processes, including cellular response to amino acid starvation; lysosome localization; and positive regulation of Autophagy. Located in cytosol; lysosomal membrane; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
TFEB Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001167827.3 | NP_001161299.2 | transcription factor EB isoform 2 |
| NM_001271943.2 | NP_001258872.1 | transcription factor EB isoform 3 |
| NM_001271944.2 | NP_001258873.1 | transcription factor EB isoform 1 |
| NM_001271945.2 | NP_001258874.1 | transcription factor EB isoform 1 |
| NM_007162.3 | NP_009093.1 | transcription factor EB isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
19556463 | GOA |
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
22576015 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15507434 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| enables transcription cis-regulatory region binding |
IDA
IDA: Inferred from direct assay
|
19556463 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
19556463 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
21617040 | GOA |
| located in lysosomal membrane |
IDA
IDA: Inferred from direct assay
|
22343943 | GOA |
| is active in nucleus |
IDA
IDA: Inferred from direct assay
|
23401004 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
19556463 | GOA |
TFEB Protein Structure
HLH: Helix-loop-helix DNA-binding domain (236 - 289)
DUF3371: Domain of unknown function (DUF3371) (321 - 474)
- 0
- 100
- 200
- 300
- 400
- 476 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transcription factor EB |
|
TFEB Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TFEB | P19484 | YWHAE | Homo sapiens | P62258 | 33961781 | |
|
Intra
|
TFEB | P19484 | YWHAE | Homo sapiens | P62258 | 28514442 | |
|
Intra
|
TFEB | P19484 | MITF | Homo sapiens | O75030 | 33961781 | |
|
Intra
|
TFEB | P19484 | SUMO1 | Homo sapiens | P63165 | 15507434 |
TFEB Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83521 | Transcription Factor EB Antibody (YA3266) | WB, IHC-F, IHC-P, ICC/IF, IP | Human |
| HY-P83521A | Transcription Factor EB Antibody (YA3266)(PBS only) | WB, IHC-F, IHC-P, ICC/IF, IP | Human |
| HY-P85853 | Transcription Factor EB Antibody (YA5545) | IHC-P, WB, ICC/IF, ELISA | Human, Mouse, |
| HY-P86184 | Transcription Factor EB Antibody (YA5876) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Renal Cell Carcinoma, Xp11-Associated |
|
|
| Pycnodysostosis |
|
|
| Microphthalmia |
|
|
| Childhood Kidney Cell Carcinoma |
|
|
| Angiomyolipoma |
|
|
| Mucolipidosis Iv |
|
|
| Epithelioid Type Angiomyolipoma |
|
|
| Waardenburg Syndrome, Type 2a |
|
|
| Eosinophilic Variant Of Chromophobe Renal Cell Carcinoma |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Osteopetrosis |
|
|
| Mucolipidosis |
|
|
| Perivascular Epithelioid Cell Tumor |
|
|
| Mucopolysaccharidosis Iii |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
|
| Danon Disease |
|
|
| Mucopolysaccharidosis, Type Iiib |
|
|
| Mucopolysaccharidosis, Type Iiia |
|
|
| Birt-Hogg-Dube Syndrome |
|
|
| Glycogen Storage Disease Ii |
|
|
| Alveolar Soft Part Sarcoma |
|
|
| Collecting Duct Carcinoma |
|
|
| Diamond-Blackfan Anemia 20 |
|
|
| Sphingolipidosis |
|
|
| Mucopolysaccharidosis-Plus Syndrome |
|
|
| Spinocerebellar Ataxia 45 |
|
|
| Waardenburg Syndrome, Type 2e |
|
|
| Gaucher Disease, Type I |
|
|
| C Syndrome |
|
|
| Lysosomal And Lipase Deficiency |
|
|
| Renal Oncocytoma |
|
|
| Gaucher'S Disease |
|
|
| Cystinosis |
|
|
| Niemann-Pick Disease |
|
|
| Tay-Sachs Disease |
|
|
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Niemann-Pick Disease, Type C1 |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | TFEB | MGD | MGI:103270 |
| Macaca mulatta | TFEB | VGNC | VGNC:78326 |
| Felis catus | TFEB | VGNC | VGNC:66117 |
| Rattus norvegicus | TFEB | RGD | RGD:1309583 |
| Canis familiaris | TFEB | VGNC | VGNC:47294 |
| Bos taurus | TFEB | VGNC | VGNC:35788 |
| Others | TFEB | NCBI |