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TFEB transcription factor EB [ Homo sapiens (human) ]

Gene ID: 7942, updated on 11-Sep-2014
Official Symbol
TFEBprovided by HGNC
Official Full Name
transcription factor EBprovided by HGNC
Primary source
HGNC:HGNC:11753
Locus tag
RP4-696P19.3
See related
Ensembl:ENSG00000112561; HPRD:02847; MIM:600744; Vega:OTTHUMG00000014684
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TCFEB; BHLHE35; ALPHATFEB
See TFEB in Epigenomics, MapViewer
Location:
6p21
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (41683978..41736259, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41651716..41703997, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MyoD family inhibitor Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 51 Neighboring gene progastricsin (pepsinogen C) Neighboring gene fibroblast growth factor receptor substrate 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
embryonic placenta development ISS
Inferred from Sequence or Structural Similarity
more info
 
humoral immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
lysosome organization IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
transcription factor EB
Names
transcription factor EB
T-cell transcription factor EB
class E basic helix-loop-helix protein 35

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_001167827.2NP_001161299.2  transcription factor EB isoform 2

    See proteins identical to NP_001161299.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2, also known as TFEB-A) encodes the longest isoform (2).
    Source sequence(s)
    AJ608786, BC032448
    Consensus CDS
    CCDS64425.1
    UniProtKB/TrEMBL
    B0QYS6
    UniProtKB/Swiss-Prot
    P19484
    Related
    ENSP00000351742, OTTHUMP00000071327, ENST00000358871, OTTHUMT00000145702
    Conserved Domains (2) summary
    cd00083
    Location:247307
    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:335488
    DUF3371; Domain of unknown function (DUF3371)
  2. NM_001271943.1NP_001258872.1  transcription factor EB isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' exon, which results in a downstream AUG start codon, and also lacks an in-frame coding exon, compared to variant 2. The resulting isoform (3) has a shorter N-terminus and lacks an internal segment, compared to isoform 2.
    Source sequence(s)
    AW294760, BC032448, CT000098
    Consensus CDS
    CCDS64424.1
    UniProtKB/Swiss-Prot
    P19484
    Related
    ENSP00000412551, ENST00000420312
    Conserved Domains (2) summary
    cd00083
    Location:148208
    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:236389
    DUF3371; Domain of unknown function (DUF3371)
  3. NM_001271944.1NP_001258873.1  transcription factor EB isoform 1

    See proteins identical to NP_001258873.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 2. The resulting isoform (1) has a shorter N-terminus, compared to isoform 2. Variants 1, 3 and 4 encode the same isoform 1.
    Source sequence(s)
    AW294760, BC032448
    Consensus CDS
    CCDS4858.1
    UniProtKB/TrEMBL
    A0A024RCY3
    UniProtKB/Swiss-Prot
    P19484
    Related
    ENSP00000362124, OTTHUMP00000043540, ENST00000373033, OTTHUMT00000106775
    Conserved Domains (2) summary
    cd00083
    Location:233293
    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:321474
    DUF3371; Domain of unknown function (DUF3371)
  4. NM_001271945.1NP_001258874.1  transcription factor EB isoform 1

    See proteins identical to NP_001258874.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 2. The resulting isoform (1) has a shorter N-terminus, compared to isoform 2. Variants 1, 3 and 4 encode the same isoform 1.
    Source sequence(s)
    BC032448, BU527754
    Consensus CDS
    CCDS4858.1
    UniProtKB/TrEMBL
    A0A024RCY3
    UniProtKB/Swiss-Prot
    P19484
    Related
    ENSP00000384203, ENST00000403298
    Conserved Domains (2) summary
    cd00083
    Location:233293
    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:321474
    DUF3371; Domain of unknown function (DUF3371)
  5. NM_007162.2NP_009093.1  transcription factor EB isoform 1

    See proteins identical to NP_009093.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) contains an alternate 5' sequence, which results in a downstream AUG start codon, compared to variant 2. The resulting isoform (1) has a shorter N-terminus, compared to isoform 2. Variants 1, 3 and 4 encode the same isoform 1.
    Source sequence(s)
    BC032448
    Consensus CDS
    CCDS4858.1
    UniProtKB/TrEMBL
    A0A024RCY3
    UniProtKB/Swiss-Prot
    P19484
    Related
    ENSP00000230323, OTTHUMP00000043542, ENST00000230323, OTTHUMT00000040522
    Conserved Domains (2) summary
    cd00083
    Location:233293
    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:321474
    DUF3371; Domain of unknown function (DUF3371)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    41683978..41736259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715213.1XP_006715276.1  

    See proteins identical to XP_006715276.1

    UniProtKB/TrEMBL
    A0A024RCY3
    UniProtKB/Swiss-Prot
    P19484
    Conserved Domains (2) summary
    cd00083
    Location:233293
    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:321474
    DUF3371; Domain of unknown function (DUF3371)
  2. XM_005249411.1XP_005249468.1  

    See proteins identical to XP_005249468.1

    UniProtKB/TrEMBL
    A0A024RCY3
    UniProtKB/Swiss-Prot
    P19484
    Conserved Domains (2) summary
    cd00083
    Location:233293
    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:321474
    DUF3371; Domain of unknown function (DUF3371)
  3. XM_005249412.1XP_005249469.1  

    See proteins identical to XP_005249469.1

    UniProtKB/TrEMBL
    A0A024RCY3
    UniProtKB/Swiss-Prot
    P19484
    Conserved Domains (2) summary
    cd00083
    Location:233293
    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:321474
    DUF3371; Domain of unknown function (DUF3371)
  4. XM_006715212.1XP_006715275.1  

    See proteins identical to XP_006715275.1

    UniProtKB/TrEMBL
    A0A024RCY3
    UniProtKB/Swiss-Prot
    P19484
    Conserved Domains (2) summary
    cd00083
    Location:233293
    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:321474
    DUF3371; Domain of unknown function (DUF3371)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    41370592..41422827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    41655195..41707480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)