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O14948 (TFEC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:TFEC
Synonyms:BHLHE34, TCFEC, TFECL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length347 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.8

Subunit structure

Homodimer. Forms heterodimers with TFE3. Forms heterodimers with MITF By similarity. Interacts with MITF By similarity. Ref.8

Subcellular location

Nucleus Ref.8.

Tissue specificity

Expressed moderately in spleen, kidney, bone marrow, small intestine and leukocytes. Expressed weakly in testis, trachea and colon. Ref.7 Ref.8

Sequence similarities

Belongs to the MiT/TFE family.

Contains 1 bHLH (basic helix-loop-helix) domain.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O14948-1)

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.
Isoform 2 (identifier: O14948-2)

Also known as: TFEC-s;

The sequence of this isoform differs from the canonical sequence as follows:
     61-89: Missing.
Isoform 3 (identifier: O14948-3)

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.
Isoform 4 (identifier: O14948-4)

Also known as: TFEC-C;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 347347Transcription factor EC
PRO_0000313564

Regions

Domain139 – 19254bHLH
Region1 – 119119Necessary for transcriptional transactivation
Region271 – 34777Necessary for transcriptional transactivation

Natural variations

Alternative sequence1 – 6767Missing in isoform 4.
VSP_030022
Alternative sequence61 – 8929Missing in isoform 2 and isoform 3.
VSP_030023
Alternative sequence68 – 8922IIGME…LMQRT → MMKEKEKTIAIVKVIDTSKL KL in isoform 4.
VSP_030024
Alternative sequence222 – 2265ELEIQ → VFIRM in isoform 3.
VSP_030025
Alternative sequence227 – 347121Missing in isoform 3.
VSP_030026
Natural variant61Q → H.
Corresponds to variant rs35695387 [ dbSNP | Ensembl ].
VAR_037661
Natural variant1001G → S.
Corresponds to variant rs35170691 [ dbSNP | Ensembl ].
VAR_037662
Natural variant1461L → V in a colorectal cancer sample; somatic mutation. Ref.9
VAR_037663

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (TFEC-l) (TFECL) [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: A29B4C4A1C88A985

FASTA34738,788
        10         20         30         40         50         60 
MTLDHQIINP TLKWSQPAVP SGGPLVQHAH TTLDSDAGLT ENPLTKLLAI GKEDDNAQWH 

        70         80         90        100        110        120 
MEDVIEDIIG MESSFKEEGA DSPLLMQRTL SGSILDVYSG EQGISPINMG LTSASCPSSL 

       130        140        150        160        170        180 
PMKREITETD TRALAKERQK KDNHNLIERR RRYNINYRIK ELGTLIPKSN DPDMRWNKGT 

       190        200        210        220        230        240 
ILKASVEYIK WLQKEQQRAR ELEHRQKKLE QANRRLLLRI QELEIQARTH GLPTLASLGT 

       250        260        270        280        290        300 
VDLGAHVTKQ QSHPEQNSVD YCQQLTVSQG PSPELCDQAI AFSDPLSYFT DLSFSAALKE 

       310        320        330        340 
EQRLDGMLLD DTISPFGTDP LLSATSPAVS KESSRRSSFS SDDGDEL 

« Hide

Isoform 2 (TFEC-s) [UniParc].

Checksum: 116B359EFB5CA1C2
Show »

FASTA31835,534
Isoform 3 [UniParc].

Checksum: E1EAE9B8D51EDCAC
Show »

FASTA19722,653
Isoform 4 (TFEC-C) [UniParc].

Checksum: 44F6744A278E5255
Show »

FASTA28031,558

References

« Hide 'large scale' references
[1]"Molecular cloning of cDNA encoding a human TFEC isoform, a newly identified transcriptional regulator."
Yasumoto K., Shibahara S.
Biochim. Biophys. Acta 1353:23-31(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
Tissue: Monocytic leukemia.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Fetal kidney.
[4]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Brain.
[7]"Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains."
Kuiper R.P., Schepens M., Thijssen J., Schoenmakers E.F.P.M., Geurts van Kessel A.
Nucleic Acids Res. 32:2315-2322(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-104 (ISOFORM 4), TISSUE SPECIFICITY.
[8]"TFEC can function as a transcriptional activator of the nonmuscle myosin II heavy chain-A gene in transfected cells."
Chung M.-C., Kim H.-K., Kawamoto S.
Biochemistry 40:8887-8897(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBUNIT, DNA-BINDING, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
[9]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-146.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS34738.1. [O14948-2]
CCDS5762.1. [O14948-1]
CCDS59076.1. [O14948-4]
RefSeqNP_001018068.1. NM_001018058.2. [O14948-2]
NP_001231512.1. NM_001244583.1. [O14948-4]
NP_036384.1. NM_012252.3. [O14948-1]
UniGeneHs.125962.

3D structure databases

ProteinModelPortalO14948.
SMRO14948. Positions 140-230.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116478. 6 interactions.
IntActO14948. 3 interactions.
STRING9606.ENSP00000265440.

PTM databases

PhosphoSiteO14948.

Proteomic databases

MaxQBO14948.
PaxDbO14948.
PRIDEO14948.

Protocols and materials databases

DNASU22797.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265440; ENSP00000265440; ENSG00000105967. [O14948-1]
ENST00000320239; ENSP00000318676; ENSG00000105967. [O14948-2]
ENST00000393485; ENSP00000377125; ENSG00000105967. [O14948-3]
ENST00000457268; ENSP00000387650; ENSG00000105967. [O14948-4]
GeneID22797.
KEGGhsa:22797.
UCSCuc003vhj.2. human. [O14948-1]
uc003vhk.2. human. [O14948-2]
uc003vhl.4. human. [O14948-3]
uc003vhm.2. human. [O14948-4]

Organism-specific databases

CTD22797.
GeneCardsGC07M115575.
HGNCHGNC:11754. TFEC.
HPACAB032260.
HPA050528.
MIM604732. gene.
neXtProtNX_O14948.
PharmGKBPA36469.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG323513.
HOGENOMHOG000231368.
HOVERGENHBG006768.
InParanoidO14948.
KOK15591.
OMATISPFGT.
OrthoDBEOG72G182.
PhylomeDBO14948.
TreeFamTF317174.

Gene expression databases

ArrayExpressO14948.
BgeeO14948.
CleanExHS_TFEC.
GenevestigatorO14948.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR021802. bHLH_ZIP_TF_MiT/TFE.
IPR024101. TFEC.
[Graphical view]
PANTHERPTHR10014:SF13. PTHR10014:SF13. 1 hit.
PfamPF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTFEC.
GenomeRNAi22797.
NextBio43136.
PROO14948.
SOURCESearch...

Entry information

Entry nameTFEC_HUMAN
AccessionPrimary (citable) accession number: O14948
Secondary accession number(s): B2R8X5 expand/collapse secondary AC list , Q5H9U8, Q709A4, Q8N6J9
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 1, 1998
Last modified: July 9, 2014
This is version 115 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM