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Gene, Transcriptome, Protein, Pathway or Disease. 

Protein basic information

LiverAtlas Protein ID

HuLPr12950

Uniprot ID

BHE41_HUMAN

Uniprot Acc

Q9C0J9;A2I2N8;

Protein name

Class E basic helix-loop-helix protein 41

Comment

FUNCTION:May be a transcriptional repressor that represses both basal and activated transcription.||SUBUNIT:Homodimerize.||SUBCELLULAR LOCATION:Nucleus (By similarity).||TISSUE SPECIFICITY:Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney.||POLYMORPHISM:Genetic variations in BHLHE41 are associated with the short sleep phenotype [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.||SIMILARITY:Contains 1 basic helix-loop-helix (bHLH) domain.||SIMILARITY:Contains 1 Orange domain.

Subcellular localization

Nucleus(By similarity).

Gene name

basic helix-loop-helix family, member e41

Protein sequence

MDEGIPHLQERQLLEHRDFIGLDYSSLYMCKPKRSMKRDD TKDTYKLPHRLIEKKRRDRINECIAQLKDLLPEHLKLTT LGHLEKAVVLELTLKHLKALTALTEQQHQKIIALQNGER SLKSPIQSDLDAFHSGFQTCAKEVLQYLSRFESWTPREP RCVQLINHLHAVATQFLPTPQLLTQQVPLSKGTGAPSAA GSAAAPCLERAGQKLEPLAYCVPVIQRTQPSAELAAEND TDTDSGYGGEAEARPDREKGKGAGASRVTIKQEPPGEDS PAPKRMKLDSRGGGSGGGPGGGAAAAAAALLGPDPAAAA ALLRPDAALLSSLVAFGGGGGAPFPQPAAAAAPFCLPFC FLSPSAAAAYVQPFLDKSGLEKYLYPAAAAAPFPLLYPG IPAPAAAAAAAAAAAAAAAAFPCLSSVLSPPPEKAGAAA ATLLPHEVAPLGAPHPQHPHGRTHLPFAGPREPGNPESS AQEDPSQPGKEAP

Database cross reference

RefSeq Protein accession:NP_110389
RefSeq Protein gi:13540521

Liver relevance

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;Human Liver Organelles;

Ontology annotation

GO-C

GO:0005634;C:nucleus;NAS:UniProtKB.

GO-F

GO:0003677;F:DNA binding;IEA:UniProtKB-KW. GO:0003700;F:sequence-specific DNA binding transcription factor activity;NAS:UniProtKB. GO:0030528;F:transcription regulator activity;IEA:InterPro.

GO-P

GO:0030154;P:cell differentiation;NAS:UniProtKB. GO:0008283;P:cell proliferation;NAS:UniProtKB. GO:0009887;P:organ morphogenesis;NAS:UniProtKB. GO:0006355;P:regulation of transcription, DNA-dependent;NAS:UniProtKB.

Pathway

Pathway name

HIF-1-alpha_transcription_factor_network

Pathway name

Notch_signaling_pathway