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Protein

Transcription factor EC

Gene

TFEC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000105967.15
HGNCiHGNC:11754 TFEC
MIMi604732 gene
neXtProtiNX_O14948

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; Source: COMPARTMENTS

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
ProteomicsDBi48328
48329 [O14948-2]
48330 [O14948-3]
48331 [O14948-4]

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
HPA063577

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116478, 9 interactors
IntActiO14948, 7 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

Phylogenomic databases

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

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
IPR024101 TFEC
PANTHERiPTHR12565:SF106 PTHR12565:SF106, 1 hit
PfamiView protein in Pfam
PF11851 DUF3371, 1 hit
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

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 dbSNP:rs35695387Ensembl.1
Natural variantiVAR_037662100G → S. Corresponds to variant dbSNP:rs35170691Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiTFEC_HUMAN
AccessioniPrimary (citable) accession number: O14948
Secondary accession number(s): B2R8X5
, Q5H9U8, Q709A4, Q8N6J9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 1, 1998
Last modified: June 20, 2018
This is version 145 of the entry and version 1 of the sequence. See 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

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