Format

Send to:

Choose Destination

TFEC transcription factor EC [ Homo sapiens (human) ]

Gene ID: 22797, updated on 17-Jun-2019

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
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

Genomic context

See TFEC in Genome Data Viewer
Location:
7q31.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 LOC102724407 Neighboring gene VISTA enhancer hs1798 Neighboring gene Sharpr-MPRA regulatory region 6568 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

Bibliography

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001018058.3NP_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/Swiss-Prot
    O14948
    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_001244583.1NP_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
    ENSP00000387650.1, 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
    O14948
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011515970.1XP_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_011515969.1XP_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_011515963.1XP_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_011515964.2XP_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_011515965.2XP_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
  6. XM_017011874.1XP_016867363.1  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
  7. XM_011515966.2XP_011514268.1  transcription factor EC isoform X1

    See identical proteins and their annotated locations for XP_011514268.1

    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
  8. XM_011515972.2XP_011514274.1  transcription factor EC isoform X5

    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:165284
    DUF3371; Domain of unknown function (DUF3371)
  9. XM_017011875.1XP_016867364.1  transcription factor EC isoform X4

    UniProtKB/Swiss-Prot
    O14948
    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
  10. XM_017011877.1XP_016867366.1  transcription factor EC isoform X7

  11. XM_017011876.2XP_016867365.1  transcription factor EC isoform X6

    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)
  12. XM_017011878.2XP_016867367.1  transcription factor EC isoform X7

Support Center