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O14948

- TFEC_HUMAN

UniProt

O14948 - TFEC_HUMAN

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Protein

Transcription factor EC

Gene

TFEC

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. DNA binding Source: UniProtKB-KW
  2. sequence-specific DNA binding transcription factor activity Source: ProtInc
  3. transcription coactivator activity Source: ProtInc
  4. transcription corepressor activity Source: ProtInc

GO - Biological processi

  1. cellular response to heat Source: Ensembl
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:11754. TFEC.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36469.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 347347Transcription factor ECPRO_0000313564Add
BLAST

Proteomic databases

MaxQBiO14948.
PaxDbiO14948.
PRIDEiO14948.

PTM databases

PhosphoSiteiO14948.

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

BgeeiO14948.
CleanExiHS_TFEC.
ExpressionAtlasiO14948. baseline and differential.
GenevestigatoriO14948.

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

Protein-protein interaction databases

BioGridi116478. 6 interactions.
IntActiO14948. 3 interactions.
STRINGi9606.ENSP00000265440.

Structurei

3D structure databases

ProteinModelPortaliO14948.
SMRiO14948. Positions 140-230.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini139 – 19254bHLHPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 119119Necessary for transcriptional transactivationAdd
BLAST
Regioni271 – 34777Necessary for transcriptional transactivationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG323513.
GeneTreeiENSGT00390000004402.
HOGENOMiHOG000231368.
HOVERGENiHBG006768.
InParanoidiO14948.
KOiK15591.
OMAiTISPFGT.
OrthoDBiEOG72G182.
PhylomeDBiO14948.
TreeFamiTF317174.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR021802. bHLH_ZIP_TF_MiT/TFE.
IPR024101. TFEC.
[Graphical view]
PANTHERiPTHR10014:SF13. PTHR10014:SF13. 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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61Q → H.
Corresponds to variant rs35695387 [ dbSNP | Ensembl ].
VAR_037661
Natural varianti100 – 1001G → S.
Corresponds to variant rs35170691 [ dbSNP | Ensembl ].
VAR_037662
Natural varianti146 – 1461L → V in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_037663

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6767Missing in isoform 4. 1 PublicationVSP_030022Add
BLAST
Alternative sequencei61 – 8929Missing in isoform 2 and isoform 3. 2 PublicationsVSP_030023Add
BLAST
Alternative sequencei68 – 8922IIGME…LMQRT → MMKEKEKTIAIVKVIDTSKL KL in isoform 4. 1 PublicationVSP_030024Add
BLAST
Alternative sequencei222 – 2265ELEIQ → VFIRM in isoform 3. 1 PublicationVSP_030025
Alternative sequencei227 – 347121Missing in isoform 3. 1 PublicationVSP_030026Add
BLAST

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]
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.2. human. [O14948-1]
uc003vhk.2. human. [O14948-2]
uc003vhl.4. human. [O14948-3]
uc003vhm.2. human. [O14948-4]

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 .
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 ]
UniGenei Hs.125962.

3D structure databases

ProteinModelPortali O14948.
SMRi O14948. Positions 140-230.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116478. 6 interactions.
IntActi O14948. 3 interactions.
STRINGi 9606.ENSP00000265440.

PTM databases

PhosphoSitei O14948.

Proteomic databases

MaxQBi O14948.
PaxDbi O14948.
PRIDEi O14948.

Protocols and materials databases

DNASUi 22797.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265440 ; ENSP00000265440 ; ENSG00000105967 . [O14948-1 ]
ENST00000320239 ; ENSP00000318676 ; ENSG00000105967 . [O14948-2 ]
ENST00000393485 ; ENSP00000377125 ; ENSG00000105967 . [O14948-3 ]
ENST00000457268 ; ENSP00000387650 ; ENSG00000105967 . [O14948-4 ]
GeneIDi 22797.
KEGGi hsa:22797.
UCSCi uc003vhj.2. human. [O14948-1 ]
uc003vhk.2. human. [O14948-2 ]
uc003vhl.4. human. [O14948-3 ]
uc003vhm.2. human. [O14948-4 ]

Organism-specific databases

CTDi 22797.
GeneCardsi GC07M115575.
HGNCi HGNC:11754. TFEC.
HPAi CAB032260.
HPA050528.
MIMi 604732. gene.
neXtProti NX_O14948.
PharmGKBi PA36469.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG323513.
GeneTreei ENSGT00390000004402.
HOGENOMi HOG000231368.
HOVERGENi HBG006768.
InParanoidi O14948.
KOi K15591.
OMAi TISPFGT.
OrthoDBi EOG72G182.
PhylomeDBi O14948.
TreeFami TF317174.

Miscellaneous databases

GeneWikii TFEC.
GenomeRNAii 22797.
NextBioi 43136.
PROi O14948.
SOURCEi Search...

Gene expression databases

Bgeei O14948.
CleanExi HS_TFEC.
ExpressionAtlasi O14948. baseline and differential.
Genevestigatori O14948.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
IPR021802. bHLH_ZIP_TF_MiT/TFE.
IPR024101. TFEC.
[Graphical view ]
PANTHERi PTHR10014:SF13. PTHR10014:SF13. 1 hit.
Pfami PF11851. DUF3371. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-146.

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: October 29, 2014
This is version 117 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

External Data

Dasty 3