TFEC transcription factor EC [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 7q31.2

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (115935152..116159896, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (117250129..117474879, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (115575206..115670817, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two alternatively spliced TFEC isoforms have been found to be sequence-specific transcriptional activators of the nonmuscle myosin II heavy chain-A gene in transfected cells.
Title: TFEC can function as a transcriptional activator of the nonmuscle myosin II heavy chain-A gene in transfected cells.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to heat	IEA Inferred from Electronic Annotation more info
involved_in negative 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	IDA Inferred from Direct Assay 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
part_of 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

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Preferred Names: transcription factor EC

Names: class E basic helix-loop-helix protein 34

NCBI Reference Sequences (RefSeq)

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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

NG_030005.2 RefSeqGene

Range

134133..229744

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001018058.3 → NP_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:108 → 168

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:196 → 315

DUF3371; Domain of unknown function (DUF3371)

cl21462
Location:164 → 195

bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
NM_001244583.2 → NP_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:70 → 130

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:158 → 265

DUF3371; Domain of unknown function (DUF3371)
NM_012252.4 → NP_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:137 → 197

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:225 → 344

DUF3371; Domain of unknown function (DUF3371)

cl21462
Location:193 → 224

bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

115935152..116159896 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (3) summary

cd00083
Location:198 → 258

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:286 → 405

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:6 → 146

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
XM_011515969.2 → XP_011514271.1 transcription factor EC isoform X2

Conserved Domains (3) summary

cd00083
Location:231 → 268

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:296 → 415

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:6 → 155

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
XM_011515963.2 → XP_011514265.1 transcription factor EC isoform X1

See identical proteins and their annotated locations for XP_011514265.1

Conserved Domains (3) summary

cd00083
Location:227 → 287

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:315 → 434

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:6 → 155

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
XM_011515964.3 → XP_011514266.1 transcription factor EC isoform X1

See identical proteins and their annotated locations for XP_011514266.1

Conserved Domains (3) summary

cd00083
Location:227 → 287

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:315 → 434

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:6 → 155

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
XM_047420054.1 → XP_047276010.1 transcription factor EC isoform X3
XM_047420050.1 → XP_047276006.1 transcription factor EC isoform X1
XM_047420051.1 → XP_047276007.1 transcription factor EC isoform X1
XM_047420053.1 → XP_047276009.1 transcription factor EC isoform X3
XM_011515965.3 → XP_011514267.1 transcription factor EC isoform X1

See identical proteins and their annotated locations for XP_011514267.1

Conserved Domains (3) summary

cd00083
Location:227 → 287

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:315 → 434

DUF3371; Domain of unknown function (DUF3371)

pfam15951
Location:6 → 155

MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
XM_047420052.1 → XP_047276008.1 transcription factor EC isoform X1
XM_047420055.1 → XP_047276011.1 transcription factor EC isoform X4
XM_017011875.2 → XP_016867364.1 transcription factor EC isoform X5

UniProtKB/Swiss-Prot

B2R8X5, O14948, Q5H9U8, Q709A4, Q8N6J9

Conserved Domains (3) summary

cd00083
Location:137 → 197

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:225 → 344

DUF3371; Domain of unknown function (DUF3371)

cl21462
Location:193 → 224

bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
XM_017011876.3 → XP_016867365.1 transcription factor EC isoform X7

UniProtKB/TrEMBL

Q75KY0

Conserved Domains (2) summary

cd00083
Location:49 → 109

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:137 → 256

DUF3371; Domain of unknown function (DUF3371)
XM_017011878.3 → XP_016867367.1 transcription factor EC isoform X8

UniProtKB/TrEMBL

Q75KY0
XM_017011877.2 → XP_016867366.1 transcription factor EC isoform X8

UniProtKB/TrEMBL

Q75KY0
XM_047420056.1 → XP_047276012.1 transcription factor EC isoform X6

Related

ENSP00000417432.1, ENST00000484212.5