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    TFEC transcription factor EC [ Homo sapiens (human) ]

    Gene ID: 22797, updated on 3-Dec-2024

    Summary

    Official Symbol
    TFECprovided by HGNC
    Official Full Name
    transcription factor ECprovided by HGNC
    Primary source
    HGNC:HGNC:11754
    See related
    Ensembl:ENSG00000105967 MIM:604732; AllianceGenome:HGNC:11754
    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
    TCFEC; TFE-C; TFECL; TFEC-L; bHLHe34; hTFEC-L
    Summary
    This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
    Expression
    Broad expression in kidney (RPKM 6.5), appendix (RPKM 6.1) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TFEC in Genome Data Viewer
    Location:
    7q31.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (115935152..116159896, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (117250129..117474879, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (115575206..115670817, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375462 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:115412432-115412591 Neighboring gene uncharacterized LOC102724407 Neighboring gene VISTA enhancer hs1798 Neighboring gene Sharpr-MPRA regulatory region 6568 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:115807196-115807710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:115825203-115826194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:115826195-115827184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18553 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:115850475-115850737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26529 Neighboring gene uncharacterized LOC124901730 Neighboring gene uncharacterized LOC102724434 Neighboring gene testin LIM domain protein Neighboring gene uncharacterized LOC105375463

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    transcription factor EC
    Names
    class E basic helix-loop-helix protein 34

    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.

    Genomic

    1. NG_030005.2 RefSeqGene

      Range
      134133..229744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001018058.3NP_001018068.1  transcription factor EC isoform b

      See identical proteins and their annotated locations for NP_001018068.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter that isoform a.
      Source sequence(s)
      AC073141, AC096551
      Consensus CDS
      CCDS34738.1
      UniProtKB/TrEMBL
      Q75KY0
      Related
      ENSP00000318676.7, ENST00000320239.11
      Conserved Domains (3) summary
      cd00083
      Location:108168
      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:196315
      DUF3371; Domain of unknown function (DUF3371)
      cl21462
      Location:164195
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    2. NM_001244583.2NP_001231512.1  transcription factor EC isoform c

      See identical proteins and their annotated locations for NP_001231512.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC096551, AJ608795, D43945
      Consensus CDS
      CCDS59076.1
      UniProtKB/TrEMBL
      Q75KY0
      Related
      ENSP00000387650.1, ENST00000457268.5
      Conserved Domains (2) summary
      cd00083
      Location:70130
      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:158265
      DUF3371; Domain of unknown function (DUF3371)
    3. NM_012252.4NP_036384.1  transcription factor EC isoform a

      See identical proteins and their annotated locations for NP_036384.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC096551, AK313546
      Consensus CDS
      CCDS5762.1
      UniProtKB/Swiss-Prot
      B2R8X5, O14948, Q5H9U8, Q709A4, Q8N6J9
      Related
      ENSP00000265440.7, ENST00000265440.12
      Conserved Domains (3) summary
      cd00083
      Location:137197
      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:225344
      DUF3371; Domain of unknown function (DUF3371)
      cl21462
      Location:193224
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      115935152..116159896 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515970.2XP_011514272.1  transcription factor EC isoform X3

      Conserved Domains (3) summary
      cd00083
      Location:198258
      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:286405
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:6146
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    2. XM_011515969.2XP_011514271.1  transcription factor EC isoform X2

      Conserved Domains (3) summary
      cd00083
      Location:231268
      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:296415
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:6155
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    3. XM_011515963.2XP_011514265.1  transcription factor EC isoform X1

      See identical proteins and their annotated locations for XP_011514265.1

      Conserved Domains (3) summary
      cd00083
      Location:227287
      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:315434
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:6155
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    4. XM_011515964.3XP_011514266.1  transcription factor EC isoform X1

      See identical proteins and their annotated locations for XP_011514266.1

      Conserved Domains (3) summary
      cd00083
      Location:227287
      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:315434
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:6155
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    5. XM_047420054.1XP_047276010.1  transcription factor EC isoform X3

    6. XM_047420050.1XP_047276006.1  transcription factor EC isoform X1

    7. XM_047420051.1XP_047276007.1  transcription factor EC isoform X1

    8. XM_047420053.1XP_047276009.1  transcription factor EC isoform X3

    9. XM_011515965.3XP_011514267.1  transcription factor EC isoform X1

      See identical proteins and their annotated locations for XP_011514267.1

      Conserved Domains (3) summary
      cd00083
      Location:227287
      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:315434
      DUF3371; Domain of unknown function (DUF3371)
      pfam15951
      Location:6155
      MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
    10. XM_047420052.1XP_047276008.1  transcription factor EC isoform X1

    11. XM_047420055.1XP_047276011.1  transcription factor EC isoform X4

    12. XM_017011875.2XP_016867364.1  transcription factor EC isoform X5

      UniProtKB/Swiss-Prot
      B2R8X5, O14948, Q5H9U8, Q709A4, Q8N6J9
      Conserved Domains (3) summary
      cd00083
      Location:137197
      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:225344
      DUF3371; Domain of unknown function (DUF3371)
      cl21462
      Location:193224
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    13. XM_017011876.3XP_016867365.1  transcription factor EC isoform X7

      UniProtKB/TrEMBL
      Q75KY0
      Conserved Domains (2) summary
      cd00083
      Location:49109
      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:137256
      DUF3371; Domain of unknown function (DUF3371)
    14. XM_017011878.3XP_016867367.1  transcription factor EC isoform X8

      UniProtKB/TrEMBL
      Q75KY0
    15. XM_017011877.2XP_016867366.1  transcription factor EC isoform X8

      UniProtKB/TrEMBL
      Q75KY0
    16. XM_047420056.1XP_047276012.1  transcription factor EC isoform X6

      UniProtKB/TrEMBL
      B7Z757
      Related
      ENSP00000417432.1, ENST00000484212.5

    RNA

    1. XR_007059992.1 RNA Sequence

    2. XR_007059993.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      117250129..117474879 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357619.1XP_054213594.1  transcription factor EC isoform X3

    2. XM_054357618.1XP_054213593.1  transcription factor EC isoform X2

    3. XM_054357612.1XP_054213587.1  transcription factor EC isoform X1

    4. XM_054357615.1XP_054213590.1  transcription factor EC isoform X1

    5. XM_054357613.1XP_054213588.1  transcription factor EC isoform X1

    6. XM_054357617.1XP_054213592.1  transcription factor EC isoform X1

    7. XM_054357620.1XP_054213595.1  transcription factor EC isoform X3

    8. XM_054357624.1XP_054213599.1  transcription factor EC isoform X6

      UniProtKB/TrEMBL
      B7Z757
    9. XM_054357621.1XP_054213596.1  transcription factor EC isoform X3

    10. XM_054357616.1XP_054213591.1  transcription factor EC isoform X1

    11. XM_054357614.1XP_054213589.1  transcription factor EC isoform X1

    12. XM_054357622.1XP_054213597.1  transcription factor EC isoform X4

    13. XM_054357623.1XP_054213598.1  transcription factor EC isoform X5

      UniProtKB/Swiss-Prot
      B2R8X5, O14948, Q5H9U8, Q709A4, Q8N6J9
    14. XM_054357625.1XP_054213600.1  transcription factor EC isoform X7

      UniProtKB/TrEMBL
      Q75KY0
    15. XM_054357627.1XP_054213602.1  transcription factor EC isoform X8

      UniProtKB/TrEMBL
      Q75KY0
    16. XM_054357626.1XP_054213601.1  transcription factor EC isoform X8

      UniProtKB/TrEMBL
      Q75KY0

    RNA

    1. XR_008487543.1 RNA Sequence

    2. XR_008487544.1 RNA Sequence