UniProtKB - O14948 (TFEC_HUMAN)
Transcription factor EC
TFEC
Functioni
Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (By similarity).
Collaborates with MITF in target gene activation (By similarity).
Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By similarity).
Binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer (By similarity).
Binds DNA in a homo- or heterodimeric form.
By similarity2 PublicationsGO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: GO_Central
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: GO_Central
- protein dimerization activity Source: InterPro
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- cellular response to heat Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: GO_Central
- positive regulation of transcription by RNA polymerase II Source: GO_Central
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Activator, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O14948 |
SignaLinki | O14948 |
SIGNORi | O14948 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor ECShort name: TFE-C Alternative name(s): Class E basic helix-loop-helix protein 34 Short name: bHLHe34 Transcription factor EC-like Short name: hTFEC-L |
Gene namesi | Name:TFEC Synonyms:BHLHE34, TCFEC, TFECL |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11754, TFEC |
MIMi | 604732, gene |
neXtProti | NX_O14948 |
VEuPathDBi | HostDB:ENSG00000105967 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation1 Publication
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Other locations
- chromatin Source: NTNU_SB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 22797 |
OpenTargetsi | ENSG00000105967 |
PharmGKBi | PA36469 |
Miscellaneous databases
Pharosi | O14948, Tbio |
Genetic variation databases
BioMutai | TFEC |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000313564 | 1 – 347 | Transcription factor ECAdd BLAST | 347 |
Proteomic databases
EPDi | O14948 |
jPOSTi | O14948 |
MassIVEi | O14948 |
MaxQBi | O14948 |
PaxDbi | O14948 |
PeptideAtlasi | O14948 |
PRIDEi | O14948 |
ProteomicsDBi | 48328 [O14948-1] 48329 [O14948-2] 48330 [O14948-3] 48331 [O14948-4] |
PTM databases
iPTMneti | O14948 |
PhosphoSitePlusi | O14948 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000105967, Expressed in intestine and 160 other tissues |
ExpressionAtlasi | O14948, baseline and differential |
Genevisiblei | O14948, HS |
Organism-specific databases
HPAi | ENSG00000105967, Tissue enhanced (bone marrow, kidney, lymphoid tissue) |
Interactioni
Subunit structurei
Homodimer. Forms heterodimers with TFE3. Forms heterodimers with MITF (By similarity).
Interacts with MITF (By similarity).
By similarityBinary interactionsi
O14948
With | #Exp. | IntAct |
---|---|---|
DEFB127 [Q9H1M4] | 3 | EBI-3916574,EBI-10305240 |
NAPB [Q9H115] | 3 | EBI-3916574,EBI-3921185 |
Isoform 3 [O14948-3]
With | #Exp. | IntAct |
---|---|---|
LPAR3 [Q9UBY5] | 3 | EBI-12246506,EBI-12033434 |
SMCO4 [Q9NRQ5] | 3 | EBI-12246506,EBI-8640191 |
GO - Molecular functioni
- protein dimerization activity Source: InterPro
Protein-protein interaction databases
BioGRIDi | 116478, 14 interactors |
IntActi | O14948, 8 interactors |
STRINGi | 9606.ENSP00000265440 |
Miscellaneous databases
RNActi | O14948, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 139 – 192 | bHLHPROSITE-ProRule annotationAdd BLAST | 54 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 119 | Necessary for transcriptional transactivationAdd BLAST | 119 | |
Regioni | 271 – 347 | Necessary for transcriptional transactivationAdd BLAST | 77 | |
Regioni | 319 – 347 | DisorderedSequence analysisAdd BLAST | 29 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 319 – 335 | Polar residuesSequence analysisAdd BLAST | 17 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1318, Eukaryota |
GeneTreei | ENSGT00940000159404 |
HOGENOMi | CLU_031638_0_0_1 |
InParanoidi | O14948 |
OMAi | HQIVNQT |
OrthoDBi | 1211990at2759 |
PhylomeDBi | O14948 |
TreeFami | TF317174 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR021802, MiT/TFE_C IPR024101, TFEC |
PANTHERi | PTHR45776:SF1, PTHR45776:SF1, 1 hit |
Pfami | View protein in Pfam PF11851, DUF3371, 1 hit PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTLDHQIINP TLKWSQPAVP SGGPLVQHAH TTLDSDAGLT ENPLTKLLAI
60 70 80 90 100
GKEDDNAQWH MEDVIEDIIG MESSFKEEGA DSPLLMQRTL SGSILDVYSG
110 120 130 140 150
EQGISPINMG LTSASCPSSL PMKREITETD TRALAKERQK KDNHNLIERR
160 170 180 190 200
RRYNINYRIK ELGTLIPKSN DPDMRWNKGT ILKASVEYIK WLQKEQQRAR
210 220 230 240 250
ELEHRQKKLE QANRRLLLRI QELEIQARTH GLPTLASLGT VDLGAHVTKQ
260 270 280 290 300
QSHPEQNSVD YCQQLTVSQG PSPELCDQAI AFSDPLSYFT DLSFSAALKE
310 320 330 340
EQRLDGMLLD DTISPFGTDP LLSATSPAVS KESSRRSSFS SDDGDEL
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB7Z757 | B7Z757_HUMAN | Transcription factor EC | TFEC | 316 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037661 | 6 | Q → H. Corresponds to variant dbSNP:rs35695387Ensembl. | 1 | |
Natural variantiVAR_037662 | 100 | G → S. Corresponds to variant dbSNP:rs35170691EnsemblClinVar. | 1 | |
Natural variantiVAR_037663 | 146 | L → V in a colorectal cancer sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030022 | 1 – 67 | Missing in isoform 4. 1 PublicationAdd BLAST | 67 | |
Alternative sequenceiVSP_030023 | 61 – 89 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 29 | |
Alternative sequenceiVSP_030024 | 68 – 89 | IIGME…LMQRT → MMKEKEKTIAIVKVIDTSKL KL in isoform 4. 1 PublicationAdd BLAST | 22 | |
Alternative sequenceiVSP_030025 | 222 – 226 | ELEIQ → VFIRM in isoform 3. 1 Publication | 5 | |
Alternative sequenceiVSP_030026 | 227 – 347 | Missing in isoform 3. 1 PublicationAdd BLAST | 121 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D43945 mRNA Translation: BAA21908.1 AK313546 mRNA Translation: BAG36322.1 CR933605 mRNA Translation: CAI45926.1 CH236947 Genomic DNA Translation: EAL24366.1 CH471070 Genomic DNA Translation: EAW83491.1 CH471070 Genomic DNA Translation: EAW83492.1 BC029891 mRNA Translation: AAH29891.1 AJ608795 mRNA Translation: CAE77680.1 |
CCDSi | CCDS34738.1 [O14948-2] CCDS5762.1 [O14948-1] CCDS59076.1 [O14948-4] |
RefSeqi | NP_001018068.1, NM_001018058.2 [O14948-2] NP_001231512.1, NM_001244583.1 [O14948-4] NP_036384.1, NM_012252.3 [O14948-1] XP_016867364.1, XM_017011875.1 [O14948-1] |
Genome annotation databases
Ensembli | ENST00000265440.12; ENSP00000265440.7; ENSG00000105967.16 ENST00000320239.11; ENSP00000318676.7; ENSG00000105967.16 [O14948-2] ENST00000393485.5; ENSP00000377125.1; ENSG00000105967.16 [O14948-3] ENST00000457268.5; ENSP00000387650.1; ENSG00000105967.16 [O14948-4] |
GeneIDi | 22797 |
KEGGi | hsa:22797 |
MANE-Selecti | ENST00000265440.12; ENSP00000265440.7; NM_012252.4; NP_036384.1 |
UCSCi | uc003vhj.3, human [O14948-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D43945 mRNA Translation: BAA21908.1 AK313546 mRNA Translation: BAG36322.1 CR933605 mRNA Translation: CAI45926.1 CH236947 Genomic DNA Translation: EAL24366.1 CH471070 Genomic DNA Translation: EAW83491.1 CH471070 Genomic DNA Translation: EAW83492.1 BC029891 mRNA Translation: AAH29891.1 AJ608795 mRNA Translation: CAE77680.1 |
CCDSi | CCDS34738.1 [O14948-2] CCDS5762.1 [O14948-1] CCDS59076.1 [O14948-4] |
RefSeqi | NP_001018068.1, NM_001018058.2 [O14948-2] NP_001231512.1, NM_001244583.1 [O14948-4] NP_036384.1, NM_012252.3 [O14948-1] XP_016867364.1, XM_017011875.1 [O14948-1] |
3D structure databases
AlphaFoldDBi | O14948 |
SMRi | O14948 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 116478, 14 interactors |
IntActi | O14948, 8 interactors |
STRINGi | 9606.ENSP00000265440 |
PTM databases
iPTMneti | O14948 |
PhosphoSitePlusi | O14948 |
Genetic variation databases
BioMutai | TFEC |
Proteomic databases
EPDi | O14948 |
jPOSTi | O14948 |
MassIVEi | O14948 |
MaxQBi | O14948 |
PaxDbi | O14948 |
PeptideAtlasi | O14948 |
PRIDEi | O14948 |
ProteomicsDBi | 48328 [O14948-1] 48329 [O14948-2] 48330 [O14948-3] 48331 [O14948-4] |
Protocols and materials databases
Antibodypediai | 31571, 229 antibodies from 30 providers |
DNASUi | 22797 |
Genome annotation databases
Ensembli | ENST00000265440.12; ENSP00000265440.7; ENSG00000105967.16 ENST00000320239.11; ENSP00000318676.7; ENSG00000105967.16 [O14948-2] ENST00000393485.5; ENSP00000377125.1; ENSG00000105967.16 [O14948-3] ENST00000457268.5; ENSP00000387650.1; ENSG00000105967.16 [O14948-4] |
GeneIDi | 22797 |
KEGGi | hsa:22797 |
MANE-Selecti | ENST00000265440.12; ENSP00000265440.7; NM_012252.4; NP_036384.1 |
UCSCi | uc003vhj.3, human [O14948-1] |
Organism-specific databases
CTDi | 22797 |
DisGeNETi | 22797 |
GeneCardsi | TFEC |
HGNCi | HGNC:11754, TFEC |
HPAi | ENSG00000105967, Tissue enhanced (bone marrow, kidney, lymphoid tissue) |
MIMi | 604732, gene |
neXtProti | NX_O14948 |
OpenTargetsi | ENSG00000105967 |
PharmGKBi | PA36469 |
VEuPathDBi | HostDB:ENSG00000105967 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1318, Eukaryota |
GeneTreei | ENSGT00940000159404 |
HOGENOMi | CLU_031638_0_0_1 |
InParanoidi | O14948 |
OMAi | HQIVNQT |
OrthoDBi | 1211990at2759 |
PhylomeDBi | O14948 |
TreeFami | TF317174 |
Enzyme and pathway databases
PathwayCommonsi | O14948 |
SignaLinki | O14948 |
SIGNORi | O14948 |
Miscellaneous databases
BioGRID-ORCSi | 22797, 23 hits in 1093 CRISPR screens |
ChiTaRSi | TFEC, human |
GeneWikii | TFEC |
GenomeRNAii | 22797 |
Pharosi | O14948, Tbio |
PROi | PR:O14948 |
RNActi | O14948, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105967, Expressed in intestine and 160 other tissues |
ExpressionAtlasi | O14948, baseline and differential |
Genevisiblei | O14948, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR021802, MiT/TFE_C IPR024101, TFEC |
PANTHERi | PTHR45776:SF1, PTHR45776:SF1, 1 hit |
Pfami | View protein in Pfam PF11851, DUF3371, 1 hit PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TFEC_HUMAN | |
Accessioni | O14948Primary (citable) accession number: O14948 Secondary accession number(s): B2R8X5 Q8N6J9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | January 1, 1998 | |
Last modified: | May 25, 2022 | |
This is version 167 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families