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TFEC transcription factor EC [ Homo sapiens (human) ]

Gene ID: 22797, updated on 26-May-2016
Official Symbol
TFECprovided by HGNC
Official Full Name
transcription factor ECprovided by HGNC
Primary source
HGNC:HGNC:11754
See related
Ensembl:ENSG00000105967 HPRD:05294; MIM:604732; Vega:OTTHUMG00000023518
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]
Orthologs
Location:
7q31.2
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (115935148..116159891, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (115575202..115799950, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375462 Neighboring gene uncharacterized LOC102724407 Neighboring gene uncharacterized LOC105375464 Neighboring gene uncharacterized LOC102724434 Neighboring gene testin LIM domain protein Neighboring gene uncharacterized LOC105375463

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
transcription factor activity, sequence-specific DNA binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular response to heat IEA
Inferred from Electronic Annotation
more info
 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
transcription factor EC
Names
class E basic helix-loop-helix protein 34

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_030005.1 RefSeqGene

    Range
    5001..100666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001018058.2NP_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/Swiss-Prot
    O14948
    Related
    ENSP00000318676, OTTHUMP00000196474, ENST00000320239, OTTHUMT00000316593
    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:196316
    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_001244583.1NP_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/Swiss-Prot
    O14948
    Related
    ENSP00000387650, ENST00000457268
    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:158278
    DUF3371; Domain of unknown function (DUF3371)
  3. NM_012252.3NP_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)
    AC073141, AC096551, AK313546
    Consensus CDS
    CCDS5762.1
    UniProtKB/Swiss-Prot
    O14948
    Related
    ENSP00000265440, OTTHUMP00000025136, ENST00000265440, OTTHUMT00000059839
    Conserved Domains (2) 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:225345
    DUF3371; Domain of unknown function (DUF3371)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    115935148..116159891 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515970.1XP_011514272.1  

    Conserved Domains (2) 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:286406
    DUF3371; Domain of unknown function (DUF3371)
  2. XM_011515969.1XP_011514271.1  

    Conserved Domains (2) 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:296416
    DUF3371; Domain of unknown function (DUF3371)
  3. XM_011515963.1XP_011514265.1  

    See identical proteins and their annotated locations for XP_011514265.1

    Conserved Domains (2) 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:315435
    DUF3371; Domain of unknown function (DUF3371)
  4. XM_011515964.1XP_011514266.1  

    See identical proteins and their annotated locations for XP_011514266.1

    Conserved Domains (2) 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:315435
    DUF3371; Domain of unknown function (DUF3371)
  5. XM_011515965.1XP_011514267.1  

    See identical proteins and their annotated locations for XP_011514267.1

    Conserved Domains (2) 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:315435
    DUF3371; Domain of unknown function (DUF3371)
  6. XM_011515968.1XP_011514270.1  

    See identical proteins and their annotated locations for XP_011514270.1

    Conserved Domains (2) 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:315435
    DUF3371; Domain of unknown function (DUF3371)
  7. XM_011515966.1XP_011514268.1  

    See identical proteins and their annotated locations for XP_011514268.1

    Conserved Domains (2) 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:315435
    DUF3371; Domain of unknown function (DUF3371)
  8. XM_011515967.1XP_011514269.1  

    See identical proteins and their annotated locations for XP_011514269.1

    Conserved Domains (2) 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:315435
    DUF3371; Domain of unknown function (DUF3371)
  9. XM_011515972.1XP_011514274.1  

    See identical proteins and their annotated locations for XP_011514274.1

    Conserved Domains (2) summary
    cd00083
    Location:77137
    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:165285
    DUF3371; Domain of unknown function (DUF3371)
  10. XM_011515973.1XP_011514275.1  

    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:137257
    DUF3371; Domain of unknown function (DUF3371)
  11. XM_011515971.1XP_011514273.1  

    See identical proteins and their annotated locations for XP_011514273.1

    UniProtKB/Swiss-Prot
    O14948
    Conserved Domains (2) 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:225345
    DUF3371; Domain of unknown function (DUF3371)
  12. XM_011515974.1XP_011514276.1  

    Conserved Domains (2) summary
    cd00083
    Location:2158
    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:86206
    DUF3371; Domain of unknown function (DUF3371)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    115508483..115604121 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)