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BHLHE41 basic helix-loop-helix family member e41 [ Homo sapiens (human) ]

Gene ID: 79365, updated on 12-Oct-2019

Summary

Official Symbol
BHLHE41provided by HGNC
Official Full Name
basic helix-loop-helix family member e41provided by HGNC
Primary source
HGNC:HGNC:16617
See related
Ensembl:ENSG00000123095 MIM:606200
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
DEC2; FNSS1; hDEC2; BHLHB3; SHARP1
Summary
This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
Expression
Broad expression in thyroid (RPKM 31.2), brain (RPKM 21.3) and 19 other tissues See more
Orthologs

Genomic context

See BHLHE41 in Genome Data Viewer
Location:
12p12.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (26120030..26125037, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (26272959..26278003, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RASSF8 antisense RNA 1 Neighboring gene Ras association domain family member 8 Neighboring gene uncharacterized LOC107984501 Neighboring gene sarcospan Neighboring gene uncharacterized LOC101928554 Neighboring gene uncharacterized LOC105369705 Neighboring gene uncharacterized LOC105369704

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystem (from REACTOME)
    BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystemAs inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) and BMAL1:NPAS2 (ARNTL:NPAS2) heterodimers bind to sequence elements (E boxes) in the promoters of target genes and enhance transcription (Gekakis et...
  • Circadian Clock, organism-specific biosystem (from REACTOME)
    Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
  • Circadian rhythm, organism-specific biosystem (from KEGG)
    Circadian rhythm, organism-specific biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
  • Circadian rhythm, conserved biosystem (from KEGG)
    Circadian rhythm, conserved biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-1-alpha transcription factor network, organism-specific biosystem
    HIF-1-alpha transcription factor network

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
E-box binding ISS
Inferred from Sequence or Structural Similarity
more info
 
MRF binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II activating transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II distal enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
bHLH transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
histone deacetylase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
animal organ morphogenesis NAS
Non-traceable Author Statement
more info
PubMed 
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
circadian regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of myotube differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by competitive promoter binding ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
class E basic helix-loop-helix protein 41
Names
basic helix-loop-helix domain containing, class B, 3
differentially expressed in chondrocytes protein 2
enhancer-of-split and hairy-related protein 1

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_021173.1 RefSeqGene

    Range
    5034..10041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_030762.3NP_110389.1  class E basic helix-loop-helix protein 41

    See identical proteins and their annotated locations for NP_110389.1

    Status: REVIEWED

    Source sequence(s)
    AB044088, AW500664, BC025968
    Consensus CDS
    CCDS8706.1
    UniProtKB/Swiss-Prot
    Q9C0J9
    UniProtKB/TrEMBL
    A0A024RAV8, Q8TAT1
    Related
    ENSP00000242728.4, ENST00000242728.5
    Conserved Domains (2) summary
    smart00511
    Location:129175
    ORANGE; Orange domain
    cd00083
    Location:46104
    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, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    26120030..26125037 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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