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O14948

- TFEC_HUMAN

UniProt

O14948 - TFEC_HUMAN

Protein

Transcription factor EC

Gene

TFEC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiO14948.
    BgeeiO14948.
    CleanExiHS_TFEC.
    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.
    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

    MTLDHQIINP TLKWSQPAVP SGGPLVQHAH TTLDSDAGLT ENPLTKLLAI    50
    GKEDDNAQWH MEDVIEDIIG MESSFKEEGA DSPLLMQRTL SGSILDVYSG 100
    EQGISPINMG LTSASCPSSL PMKREITETD TRALAKERQK KDNHNLIERR 150
    RRYNINYRIK ELGTLIPKSN DPDMRWNKGT ILKASVEYIK WLQKEQQRAR 200
    ELEHRQKKLE QANRRLLLRI QELEIQARTH GLPTLASLGT VDLGAHVTKQ 250
    QSHPEQNSVD YCQQLTVSQG PSPELCDQAI AFSDPLSYFT DLSFSAALKE 300
    EQRLDGMLLD DTISPFGTDP LLSATSPAVS KESSRRSSFS SDDGDEL 347
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    ArrayExpressi O14948.
    Bgeei O14948.
    CleanExi HS_TFEC.
    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

    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 1, 2014
    This is version 116 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