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    Tfe3 transcription factor E3 [ Mus musculus (house mouse) ]

    Gene ID: 209446, updated on 9-Dec-2024

    Summary

    Official Symbol
    Tfe3provided by MGI
    Official Full Name
    transcription factor E3provided by MGI
    Primary source
    MGI:MGI:98511
    See related
    Ensembl:ENSMUSG00000000134 AllianceGenome:MGI:98511
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tcfe3; Tfe-3; mTFE3; bHLHe33; F830016E06Rik
    Summary
    Enables DNA-binding transcription factor activity; E-box binding activity; and protein heterodimerization activity. Involved in several processes, including negative regulation of cold-induced thermogenesis; positive regulation of brown fat cell differentiation; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within regulation of osteoclast differentiation. Located in cytosol and nucleus. Is expressed in several structures, including adipose tissue; branchial arch; early conceptus; genitourinary system; and gut. Human ortholog(s) of this gene implicated in renal cell carcinoma. Orthologous to human TFE3 (transcription factor binding to IGHM enhancer 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 12.2), genital fat pad adult (RPKM 11.2) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Tfe3 in Genome Data Viewer
    Location:
    X A1.1; X 3.5 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (7628769..7641441)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (7762530..7775202)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 120 Neighboring gene SMT3 suppressor of mif two 3 homolog 2, pseudogene (S. cerevisiae) Neighboring gene STARR-seq mESC enhancer starr_46671 Neighboring gene STARR-seq mESC enhancer starr_46672 Neighboring gene predicted gene, 39487 Neighboring gene GRIP1 associated protein 1 Neighboring gene microRNA 1198 Neighboring gene potassium voltage-gated channel, Shal-related family, member 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in humoral immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lysosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cold-induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of brown fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of osteoclast differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription regulator complex IC
    Inferred by Curator
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001105196.1NP_001098666.1  transcription factor E3 isoform b

      See identical proteins and their annotated locations for NP_001098666.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AK139756, AL671995, BC056358
      Consensus CDS
      CCDS52985.1
      UniProtKB/Swiss-Prot
      A2AEW3, A2AEW4, Q3U8H0, Q3UMV4, Q3UT52, Q64092, Q7TNC1, Q8BN29
      UniProtKB/TrEMBL
      A2AEW0
      Related
      ENSMUSP00000078498.7, ENSMUST00000079542.13
      Conserved Domains (3) summary
      cd00083
      Location:308368
      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:466535
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:112260
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    2. NM_001105197.1NP_001098667.1  transcription factor E3 isoform c

      See identical proteins and their annotated locations for NP_001098667.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Variants 3, 4, and 5 encode the same isoform (c).
      Source sequence(s)
      AK152221, BC056358, BY208269
      Consensus CDS
      CCDS72332.1
      UniProtKB/Swiss-Prot
      A2AEW3, A2AEW4, Q3U8H0, Q3UMV4, Q3UT52, Q64092, Q7TNC1, Q8BN29
      Related
      ENSMUSP00000111341.2, ENSMUST00000115677.8
      Conserved Domains (3) summary
      cd18928
      Location:231321
      bHLHzip_TFE3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor E3 (TFE3) and similar proteins
      pfam11851
      Location:326465
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:7160
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    3. NM_001271489.1NP_001258418.1  transcription factor E3 isoform c

      See identical proteins and their annotated locations for NP_001258418.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site at an internal exon, compared to variant 1, and initiates translation at a downstream in-frame start codon. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Variants 3, 4, and 5 encode the same isoform (c).
      Source sequence(s)
      AK159162, AL671995, BC056358
      Consensus CDS
      CCDS72332.1
      UniProtKB/Swiss-Prot
      A2AEW3, A2AEW4, Q3U8H0, Q3UMV4, Q3UT52, Q64092, Q7TNC1, Q8BN29
      Related
      ENSMUSP00000111343.2, ENSMUST00000115679.8
      Conserved Domains (3) summary
      cd18928
      Location:231321
      bHLHzip_TFE3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor E3 (TFE3) and similar proteins
      pfam11851
      Location:326465
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:7160
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    4. NM_001271490.1NP_001258419.1  transcription factor E3 isoform c

      See identical proteins and their annotated locations for NP_001258419.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' exon, compared to variant 1, and initiates translation at a downstream in-frame start codon. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Variants 3, 4, and 5 encode the same isoform (c).
      Source sequence(s)
      AK139756, AL671995, BC056358
      Consensus CDS
      CCDS72332.1
      UniProtKB/Swiss-Prot
      A2AEW3, A2AEW4, Q3U8H0, Q3UMV4, Q3UT52, Q64092, Q7TNC1, Q8BN29
      Related
      ENSMUSP00000134125.2, ENSMUST00000137467.8
      Conserved Domains (3) summary
      cd18928
      Location:231321
      bHLHzip_TFE3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor E3 (TFE3) and similar proteins
      pfam11851
      Location:326465
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:7160
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    5. NM_001271491.1NP_001258420.1  transcription factor E3 isoform d

      See identical proteins and their annotated locations for NP_001258420.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, has multiple differences in the coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AK155883, BC063047
      Consensus CDS
      CCDS72333.1
      UniProtKB/TrEMBL
      Q3U1L5
      Related
      ENSMUSP00000111342.3, ENSMUST00000115678.3
      Conserved Domains (3) summary
      cd18928
      Location:196286
      bHLHzip_TFE3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor E3 (TFE3) and similar proteins
      pfam11851
      Location:291430
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:7155
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    6. NM_172472.3NP_766060.2  transcription factor E3 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF510653, AL671995, BC056358
      Consensus CDS
      CCDS52984.1
      UniProtKB/Swiss-Prot
      A2AEW3, A2AEW4, Q3U8H0, Q3UMV4, Q3UT52, Q64092, Q7TNC1, Q8BN29
      UniProtKB/TrEMBL
      A2AEW1
      Related
      ENSMUSP00000076864.4, ENSMUST00000077680.10
      Conserved Domains (3) summary
      cd00083
      Location:343403
      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:518570
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:112264
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      7628769..7641441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527578.3XP_006527641.1  transcription factor E3 isoform X1

      See identical proteins and their annotated locations for XP_006527641.1

      UniProtKB/Swiss-Prot
      A2AEW3, A2AEW4, Q3U8H0, Q3UMV4, Q3UT52, Q64092, Q7TNC1, Q8BN29
      Conserved Domains (3) summary
      cd18928
      Location:231321
      bHLHzip_TFE3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor E3 (TFE3) and similar proteins
      pfam11851
      Location:326465
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:7160
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    2. XM_036161900.1XP_036017793.1  transcription factor E3 isoform X2

      UniProtKB/TrEMBL
      Q3U1L5
      Conserved Domains (3) summary
      cd18928
      Location:196286
      bHLHzip_TFE3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor E3 (TFE3) and similar proteins
      pfam11851
      Location:291430
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:7155
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    3. XM_017318454.3XP_017173943.1  transcription factor E3 isoform X2

      UniProtKB/TrEMBL
      Q3U1L5
      Conserved Domains (3) summary
      cd18928
      Location:196286
      bHLHzip_TFE3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor E3 (TFE3) and similar proteins
      pfam11851
      Location:291430
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:7155
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    4. XM_017318453.3XP_017173942.1  transcription factor E3 isoform X1

      UniProtKB/Swiss-Prot
      A2AEW3, A2AEW4, Q3U8H0, Q3UMV4, Q3UT52, Q64092, Q7TNC1, Q8BN29
      Conserved Domains (3) summary
      cd18928
      Location:231321
      bHLHzip_TFE3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor E3 (TFE3) and similar proteins
      pfam11851
      Location:326465
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:7160
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    5. XM_036161898.1XP_036017791.1  transcription factor E3 isoform X1

      UniProtKB/Swiss-Prot
      A2AEW3, A2AEW4, Q3U8H0, Q3UMV4, Q3UT52, Q64092, Q7TNC1, Q8BN29
      Conserved Domains (3) summary
      cd18928
      Location:231321
      bHLHzip_TFE3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor E3 (TFE3) and similar proteins
      pfam11851
      Location:326465
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:7160
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    6. XM_036161899.1XP_036017792.1  transcription factor E3 isoform X1

      UniProtKB/Swiss-Prot
      A2AEW3, A2AEW4, Q3U8H0, Q3UMV4, Q3UT52, Q64092, Q7TNC1, Q8BN29
      Related
      ENSMUSP00000099219.3, ENSMUST00000101695.9
      Conserved Domains (3) summary
      cd18928
      Location:231321
      bHLHzip_TFE3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in transcription factor E3 (TFE3) and similar proteins
      pfam11851
      Location:326465
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:7160
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

    RNA

    1. XR_003953006.1 RNA Sequence

      Related
      ENSMUST00000115680.11