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Protein

Transcription factor EC

Gene

TFEC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 Publications

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • transcription coactivator activity Source: ProtInc
  • transcription corepressor activity Source: ProtInc
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000105967-MONOMER.
SIGNORiO14948.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor EC
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:11754. TFEC.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi22797.
OpenTargetsiENSG00000105967.
PharmGKBiPA36469.

Polymorphism and mutation databases

BioMutaiTFEC.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003135641 – 347Transcription factor ECAdd BLAST347

Proteomic databases

MaxQBiO14948.
PaxDbiO14948.
PeptideAtlasiO14948.
PRIDEiO14948.

PTM databases

iPTMnetiO14948.
PhosphoSitePlusiO14948.

Expressioni

Tissue specificityi

Expressed moderately in spleen, kidney, bone marrow, small intestine and leukocytes. Expressed weakly in testis, trachea and colon.2 Publications

Gene expression databases

BgeeiENSG00000105967.
CleanExiHS_TFEC.
ExpressionAtlasiO14948. baseline and differential.
GenevisibleiO14948. HS.

Organism-specific databases

HPAiCAB032260.
HPA050528.

Interactioni

Subunit structurei

Homodimer. Forms heterodimers with TFE3. Forms heterodimers with MITF (By similarity). Interacts with MITF (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
DEFB127Q9H1M43EBI-3916574,EBI-10305240
NAPBQ9H1153EBI-3916574,EBI-3921185

Protein-protein interaction databases

BioGridi116478. 9 interactors.
IntActiO14948. 6 interactors.
STRINGi9606.ENSP00000265440.

Structurei

3D structure databases

ProteinModelPortaliO14948.
SMRiO14948.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini139 – 192bHLHPROSITE-ProRule annotationAdd BLAST54

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 119Necessary for transcriptional transactivationAdd BLAST119
Regioni271 – 347Necessary for transcriptional transactivationAdd BLAST77

Sequence similaritiesi

Belongs to the MiT/TFE family.Curated
Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1318. Eukaryota.
ENOG4110SME. LUCA.
GeneTreeiENSGT00390000004402.
HOGENOMiHOG000231368.
HOVERGENiHBG006768.
InParanoidiO14948.
KOiK15591.
OMAiTKQQTHL.
OrthoDBiEOG091G0QCO.
PhylomeDBiO14948.
TreeFamiTF317174.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR021802. MiT/TFE_C.
IPR024101. TFEC.
[Graphical view]
PANTHERiPTHR12565:SF106. PTHR12565:SF106. 1 hit.
PfamiPF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O14948-1) [UniParc]FASTAAdd to basket
Also known as: TFEC-l, TFECL

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
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
Length:347
Mass (Da):38,788
Last modified:January 1, 1998 - v1
Checksum:iA29B4C4A1C88A985
GO
Isoform 2 (identifier: O14948-2) [UniParc]FASTAAdd to basket
Also known as: TFEC-s

The sequence of this isoform differs from the canonical sequence as follows:
     61-89: Missing.

Show »
Length:318
Mass (Da):35,534
Checksum:i116B359EFB5CA1C2
GO
Isoform 3 (identifier: O14948-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-89: Missing.
     222-226: ELEIQ → VFIRM
     227-347: Missing.

Note: No experimental confirmation available.
Show »
Length:197
Mass (Da):22,653
Checksum:iE1EAE9B8D51EDCAC
GO
Isoform 4 (identifier: O14948-4) [UniParc]FASTAAdd to basket
Also known as: TFEC-C

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: Missing.
     68-89: IIGMESSFKEEGADSPLLMQRT → MMKEKEKTIAIVKVIDTSKLKL

Show »
Length:280
Mass (Da):31,558
Checksum:i44F6744A278E5255
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0376616Q → H.Corresponds to variant rs35695387dbSNPEnsembl.1
Natural variantiVAR_037662100G → S.Corresponds to variant rs35170691dbSNPEnsembl.1
Natural variantiVAR_037663146L → V in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0300221 – 67Missing in isoform 4. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_03002361 – 89Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST29
Alternative sequenceiVSP_03002468 – 89IIGME…LMQRT → MMKEKEKTIAIVKVIDTSKL KL in isoform 4. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_030025222 – 226ELEIQ → VFIRM in isoform 3. 1 Publication5
Alternative sequenceiVSP_030026227 – 347Missing in isoform 3. 1 PublicationAdd BLAST121

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.
CCDSiCCDS34738.1. [O14948-2]
CCDS5762.1. [O14948-1]
CCDS59076.1. [O14948-4]
RefSeqiNP_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]
UniGeneiHs.125962.

Genome annotation databases

EnsembliENST00000265440; ENSP00000265440; ENSG00000105967. [O14948-1]
ENST00000320239; ENSP00000318676; ENSG00000105967. [O14948-2]
ENST00000393485; ENSP00000377125; ENSG00000105967. [O14948-3]
ENST00000457268; ENSP00000387650; ENSG00000105967. [O14948-4]
GeneIDi22797.
KEGGihsa:22797.
UCSCiuc003vhj.3. human. [O14948-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS34738.1. [O14948-2]
CCDS5762.1. [O14948-1]
CCDS59076.1. [O14948-4]
RefSeqiNP_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]
UniGeneiHs.125962.

3D structure databases

ProteinModelPortaliO14948.
SMRiO14948.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116478. 9 interactors.
IntActiO14948. 6 interactors.
STRINGi9606.ENSP00000265440.

PTM databases

iPTMnetiO14948.
PhosphoSitePlusiO14948.

Polymorphism and mutation databases

BioMutaiTFEC.

Proteomic databases

MaxQBiO14948.
PaxDbiO14948.
PeptideAtlasiO14948.
PRIDEiO14948.

Protocols and materials databases

DNASUi22797.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265440; ENSP00000265440; ENSG00000105967. [O14948-1]
ENST00000320239; ENSP00000318676; ENSG00000105967. [O14948-2]
ENST00000393485; ENSP00000377125; ENSG00000105967. [O14948-3]
ENST00000457268; ENSP00000387650; ENSG00000105967. [O14948-4]
GeneIDi22797.
KEGGihsa:22797.
UCSCiuc003vhj.3. human. [O14948-1]

Organism-specific databases

CTDi22797.
DisGeNETi22797.
GeneCardsiTFEC.
HGNCiHGNC:11754. TFEC.
HPAiCAB032260.
HPA050528.
MIMi604732. gene.
neXtProtiNX_O14948.
OpenTargetsiENSG00000105967.
PharmGKBiPA36469.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1318. Eukaryota.
ENOG4110SME. LUCA.
GeneTreeiENSGT00390000004402.
HOGENOMiHOG000231368.
HOVERGENiHBG006768.
InParanoidiO14948.
KOiK15591.
OMAiTKQQTHL.
OrthoDBiEOG091G0QCO.
PhylomeDBiO14948.
TreeFamiTF317174.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000105967-MONOMER.
SIGNORiO14948.

Miscellaneous databases

GeneWikiiTFEC.
GenomeRNAii22797.
PROiO14948.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105967.
CleanExiHS_TFEC.
ExpressionAtlasiO14948. baseline and differential.
GenevisibleiO14948. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR021802. MiT/TFE_C.
IPR024101. TFEC.
[Graphical view]
PANTHERiPTHR12565:SF106. PTHR12565:SF106. 1 hit.
PfamiPF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTFEC_HUMAN
AccessioniPrimary (citable) accession number: O14948
Secondary accession number(s): B2R8X5
, Q5H9U8, Q709A4, Q8N6J9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 1, 1998
Last modified: November 30, 2016
This is version 134 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.