O14948 (TFEC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	TFEC
Synonyms:	BHLHE34, TCFEC, TFECL

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	347 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Molecular function	Activator Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular response to heat Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: ProtInc transcription coactivator activity Traceable author statement Ref.1. Source: ProtInc transcription corepressor activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 347	347	Transcription factor EC		PRO_0000313564
Regions
	Domain	139 – 192	54	bHLH
	Region	1 – 119	119	Necessary for transcriptional transactivation
	Region	271 – 347	77	Necessary for transcriptional transactivation
Natural variations
	Alternative sequence	1 – 67	67	Missing in isoform 4.		VSP_030022
	Alternative sequence	61 – 89	29	Missing in isoform 2 and isoform 3.		VSP_030023
	Alternative sequence	68 – 89	22	IIGME…LMQRT → MMKEKEKTIAIVKVIDTSKL KL in isoform 4.		VSP_030024
	Alternative sequence	222 – 226	5	ELEIQ → VFIRM in isoform 3.		VSP_030025
	Alternative sequence	227 – 347	121	Missing in isoform 3.		VSP_030026
	Natural variant	6	1	Q → H. Corresponds to variant rs35695387 [ dbSNP | Ensembl ].		VAR_037661
	Natural variant	100	1	G → S. Corresponds to variant rs35170691 [ dbSNP | Ensembl ].		VAR_037662
	Natural variant	146	1	L → V in a colorectal cancer sample; somatic mutation. Ref.9		VAR_037663

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (TFEC-l) (TFECL) [UniParc]. Last modified January 1, 1998. Version 1. Checksum: A29B4C4A1C88A985	FASTA	347	38,788
	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
	Isoform 2 (TFEC-s) [UniParc]. Checksum: 116B359EFB5CA1C2	FASTA	318	35,534
	10 20 30 40 50 60 MTLDHQIINP TLKWSQPAVP SGGPLVQHAH TTLDSDAGLT ENPLTKLLAI GKEDDNAQWH 70 80 90 100 110 120 LSGSILDVYS GEQGISPINM GLTSASCPSS LPMKREITET DTRALAKERQ KKDNHNLIER 130 140 150 160 170 180 RRRYNINYRI KELGTLIPKS NDPDMRWNKG TILKASVEYI KWLQKEQQRA RELEHRQKKL 190 200 210 220 230 240 EQANRRLLLR IQELEIQART HGLPTLASLG TVDLGAHVTK QQSHPEQNSV DYCQQLTVSQ 250 260 270 280 290 300 GPSPELCDQA IAFSDPLSYF TDLSFSAALK EEQRLDGMLL DDTISPFGTD PLLSATSPAV 310 SKESSRRSSF SSDDGDEL
	Isoform 3 [UniParc]. Checksum: E1EAE9B8D51EDCAC	FASTA	197	22,653
	10 20 30 40 50 60 MTLDHQIINP TLKWSQPAVP SGGPLVQHAH TTLDSDAGLT ENPLTKLLAI GKEDDNAQWH 70 80 90 100 110 120 LSGSILDVYS GEQGISPINM GLTSASCPSS LPMKREITET DTRALAKERQ KKDNHNLIER 130 140 150 160 170 180 RRRYNINYRI KELGTLIPKS NDPDMRWNKG TILKASVEYI KWLQKEQQRA RELEHRQKKL 190 EQANRRLLLR IQVFIRM
	Isoform 4 (TFEC-C) [UniParc]. Checksum: 44F6744A278E5255	FASTA	280	31,558
	10 20 30 40 50 60 MMKEKEKTIA IVKVIDTSKL KLLSGSILDV YSGEQGISPI NMGLTSASCP SSLPMKREIT 70 80 90 100 110 120 ETDTRALAKE RQKKDNHNLI ERRRRYNINY RIKELGTLIP KSNDPDMRWN KGTILKASVE 130 140 150 160 170 180 YIKWLQKEQQ RARELEHRQK KLEQANRRLL LRIQELEIQA RTHGLPTLAS LGTVDLGAHV 190 200 210 220 230 240 TKQQSHPEQN SVDYCQQLTV SQGPSPELCD QAIAFSDPLS YFTDLSFSAA LKEEQRLDGM 250 260 270 280 LLDDTISPFG TDPLLSATSP AVSKESSRRS SFSSDDGDEL

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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.
IPI	IPI00016824. IPI00167022. IPI00852594. IPI00878954.
RefSeq	NP_001018068.1. NM_001018058.2. NP_001231512.1. NM_001244583.1. NP_036384.1. NM_012252.3.
UniGene	Hs.125962.
3D structure databases
HSSP	HSSP built from PDB template 1AN4 based on UniProtKB P22415.
ProteinModelPortal	O14948.
ModBase	Search...
Protein-protein interaction databases
IntAct	O14948. 3 interactions.
STRING	9606.ENSP00000265440.
PTM databases
PhosphoSite	O14948.
Proteomic databases
PaxDb	O14948.
PRIDE	O14948.
Protocols and materials databases
DNASU	22797.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265440; ENSP00000265440; ENSG00000105967. ENST00000320239; ENSP00000318676; ENSG00000105967. ENST00000393485; ENSP00000377125; ENSG00000105967. ENST00000457268; ENSP00000387650; ENSG00000105967.
GeneID	22797.
KEGG	hsa:22797.
UCSC	uc003vhj.2. human. uc003vhk.2. human. uc003vhl.4. human. uc003vhm.2. human.
Organism-specific databases
CTD	22797.
GeneCards	GC07M115575.
HGNC	HGNC:11754. TFEC.
HPA	CAB032260.
MIM	604732. gene.
neXtProt	NX_O14948.
PharmGKB	PA36469.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG323513.
HOGENOM	HOG000231368.
HOVERGEN	HBG006768.
InParanoid	O14948.
KO	K15591.
OMA	SHPEQNS.
OrthoDB	EOG4PC9SS.
PhylomeDB	O14948.
Gene expression databases
ArrayExpress	O14948.
Bgee	O14948.
CleanEx	HS_TFEC.
Genevestigator	O14948.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. IPR024097. bHLH_ZIP_TF. IPR021802. bHLH_ZIP_TF_MiT/TFE. IPR024101. TFEC. [Graphical view]
PANTHER	PTHR10014. PTHR10014. 1 hit. PTHR10014:SF13. PTHR10014:SF13. 1 hit.
Pfam	PF11851. DUF3371. 1 hit. PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	22797.
NextBio	43136.
SOURCE	Search...

Entry information

Entry name

TFEC_HUMAN

Accession

Primary (citable) accession number: O14948
Secondary accession number(s): B2R8X5 , Q5H9U8, Q709A4, Q8N6J9

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	January 1, 1998
Last modified:	May 1, 2013
This is version 103 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.