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    TFE3 transcription factor binding to IGHM enhancer 3 [ Homo sapiens (human) ]

    Gene ID: 7030, updated on 6-Aug-2017
    Official Symbol
    TFE3provided by HGNC
    Official Full Name
    transcription factor binding to IGHM enhancer 3provided by HGNC
    Primary source
    HGNC:HGNC:11752
    See related
    Ensembl:ENSG00000068323 MIM:314310; Vega:OTTHUMG00000022690
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TFEA; RCCP2; RCCX1; bHLHe33
    Summary
    This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Orthologs
    Location:
    Xp11.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (49028726..49043517, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48886237..48900990, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily D member 1 Neighboring gene GRIP1 associated protein 1 Neighboring gene coiled-coil domain containing 120 Neighboring gene PRA1 domain family member 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of transcription factor binding to IGHM enhancer 3 (TFE3) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    humoral immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    transcription factor E3
    Names
    class E basic helix-loop-helix protein 33
    transcription factor E family, member A
    transcription factor for IgH enhancer
    transcription factor for immunoglobulin heavy-chain enhancer 3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016297.2 RefSeqGene

      Range
      4944..19735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282142.1NP_001269071.1  transcription factor E3 isoform 2

      See identical proteins and their annotated locations for NP_001269071.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL161985, BM904206, HY157114
      UniProtKB/Swiss-Prot
      P19532
      UniProtKB/TrEMBL
      B4DIA5
      Conserved Domains (3) summary
      cd00083
      Location:239299
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      pfam11851
      Location:327468
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:8160
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    2. NM_006521.5NP_006512.2  transcription factor E3 isoform 1

      See identical proteins and their annotated locations for NP_006512.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL161985, BC026027, BM904206, HY157114
      Consensus CDS
      CCDS14315.3
      UniProtKB/Swiss-Prot
      P19532
      UniProtKB/TrEMBL
      A0A024QZ23
      Related
      ENSP00000314129.7, OTTHUMP00000024272, ENST00000315869.7, OTTHUMT00000058872
      Conserved Domains (3) summary
      cd00083
      Location:344404
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      pfam11851
      Location:432573
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:113265
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      49028726..49043517 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      48917569..48932374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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