BHLHE41 (basic helix-loop-helix family member e41)

Gene

• Entrez ID: 79365
• Gene name: Basic helix-loop-helix family member e41
• Gene symbol: BHLHE41
• Synonyms: BHLHB3, DEC2, FNSS1, SHARP1, hDEC2
• Chromosome: 12
• Chromosome location: 12p12.1
• 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 believe

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018496	hsa-miR-335-5p	Microarray	18185580
MIRT044939	hsa-miR-186-5p	CLASH	23622248
MIRT821326	hsa-miR-105	CLIP-seq
MIRT821327	hsa-miR-1304	CLIP-seq
MIRT821328	hsa-miR-15a	CLIP-seq
MIRT821329	hsa-miR-15b	CLIP-seq
MIRT821330	hsa-miR-16	CLIP-seq
MIRT821331	hsa-miR-1827	CLIP-seq
MIRT821332	hsa-miR-195	CLIP-seq
MIRT821333	hsa-miR-424	CLIP-seq
MIRT821334	hsa-miR-4470	CLIP-seq
MIRT821335	hsa-miR-4661-3p	CLIP-seq
MIRT821336	hsa-miR-4711-3p	CLIP-seq
MIRT821337	hsa-miR-497	CLIP-seq
MIRT821338	hsa-miR-501-3p	CLIP-seq
MIRT821339	hsa-miR-502-3p	CLIP-seq
MIRT821340	hsa-miR-511	CLIP-seq
MIRT821341	hsa-miR-545	CLIP-seq
MIRT1922591	hsa-miR-125a-5p	CLIP-seq
MIRT1922592	hsa-miR-125b	CLIP-seq
MIRT1922593	hsa-miR-3667-3p	CLIP-seq
MIRT1922594	hsa-miR-4319	CLIP-seq
MIRT1922595	hsa-miR-4732-3p	CLIP-seq
MIRT1922596	hsa-miR-670	CLIP-seq
MIRT1942784	hsa-miR-1229	CLIP-seq
MIRT821328	hsa-miR-15a	CLIP-seq
MIRT821329	hsa-miR-15b	CLIP-seq
MIRT821330	hsa-miR-16	CLIP-seq
MIRT821332	hsa-miR-195	CLIP-seq
MIRT1942785	hsa-miR-342-3p	CLIP-seq
MIRT1942786	hsa-miR-3658	CLIP-seq
MIRT821333	hsa-miR-424	CLIP-seq
MIRT821337	hsa-miR-497	CLIP-seq
MIRT821341	hsa-miR-545	CLIP-seq
MIRT1942784	hsa-miR-1229	CLIP-seq
MIRT2181527	hsa-miR-1238	CLIP-seq
MIRT2181528	hsa-miR-1255a	CLIP-seq
MIRT2181529	hsa-miR-1255b	CLIP-seq
MIRT2181530	hsa-miR-1269	CLIP-seq
MIRT2181531	hsa-miR-1269b	CLIP-seq
MIRT2181532	hsa-miR-129-5p	CLIP-seq
MIRT2181533	hsa-miR-3074-3p	CLIP-seq
MIRT2181534	hsa-miR-3145-3p	CLIP-seq
MIRT2181535	hsa-miR-3162-3p	CLIP-seq
MIRT1942785	hsa-miR-342-3p	CLIP-seq
MIRT2181536	hsa-miR-4328	CLIP-seq
MIRT2181537	hsa-miR-4520b-3p	CLIP-seq
MIRT2181538	hsa-miR-4529-3p	CLIP-seq
MIRT821341	hsa-miR-545	CLIP-seq
MIRT2181539	hsa-miR-548p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CLOCK	Activation	14672706
GLI1	Activation	24165159
GLI2	Unknown	24165159

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	14672706, 15193144
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001102	Function	RNA polymerase II activating transcription factor binding	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	19786558
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0005515	Function	Protein binding	IPI	19786558, 22801492
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0009952	Process	Anterior/posterior pattern specification	IBA	21873635
GO:0010832	Process	Negative regulation of myotube differentiation	ISS
GO:0010944	Process	Negative regulation of transcription by competitive promoter binding	ISS
GO:0032922	Process	Circadian regulation of gene expression	IBA	21873635
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042826	Function	Histone deacetylase binding	ISS
GO:0043425	Function	BHLH transcription factor binding	IPI	15193144
GO:0043425	Function	BHLH transcription factor binding	ISS
GO:0043426	Function	MRF binding	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0046982	Function	Protein heterodimerization activity	IPI	15193144
GO:0050767	Process	Regulation of neurogenesis	IBA	21873635
GO:0070888	Function	E-box binding	IDA	14672706, 15193144
GO:0070888	Function	E-box binding	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 606200
• HGNC: 16617
• e!Ensembl: ENSG00000123095

Protein

• UniProt ID: Q9C0J9
• Protein name: Class E basic helix-loop-helix protein 41 (bHLHe41) (Class B basic helix-loop-helix protein 3) (bHLHb3) (Differentially expressed in chondrocytes protein 2) (hDEC2) (Enhancer-of-split and hairy-related protein 1) (SHARP-1)
• Protein function: Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes (PubMed:11278948, PubMed:14672706, PubMed:15193144, PubMed:15560782, PubMed:18411297
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	45 → 100	Helix-loop-helix DNA-binding domain	Domain
  PF07527	Hairy_orange	130 → 171	Hairy Orange	Domain

• Sequence:

  MDEGIPHLQERQLLEHRDFIGLDYSSLYMCKPKRSMKRDDTKDTYKLPHRLIEKKRRDRI
  NECIAQLKDLLPEHLKLTTLGHLEKAVVLELTLKHLKALTALTEQQHQKIIALQNGERSL
  KSPIQSDLDAFHSGFQTCAKEVLQYLSRFESWTPREPRCVQLINHLHAVATQFLPTPQLL
  TQQVPLSKGTGAPSAAGSAAAPCLERAGQKLEPLAYCVPVIQRTQPSAELAAENDTDTDS
  GYGGEAEARPDREKGKGAGASRVTIKQEPPGEDSPAPKRMKLDSRGGGSGGGPGGGAAAA
  AAALLGPDPAAAAALLRPDAALLSSLVAFGGGGGAPFPQPAAAAAPFCLPFCFLSPSAAA
  AYVQPFLDKSGLEKYLYPAAAAAPFPLLYPGIPAPAAAAAAAAAAAAAAAAFPCLSSVLS
  PPPEKAGAAAATLLPHEVAPLGAPHPQHPHGRTHLPFAGPREPGNPESSAQEDPSQPGKE
  AP

• Sequence length: 482

Pathways

KEGG:

Circadian rhythm

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	27935865

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		20072116
Lung neoplasms	Lung Neoplasms		27935865
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	27622933
Mood disorder	Mood Disorders		27622933
Short sleeper syndromes	Short Sleeper Syndrome
Sleep disorders	Sleep Disorders
Sleep wake disorders	Sleep Wake Disorders