Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q9C0J9 (BHE41_HUMAN)

Entry version 165 (12 Aug 2020)
Sequence version 1 (01 Jun 2001)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Class E basic helix-loop-helix protein 41

Gene

BHLHE41

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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, PubMed:19786558, PubMed:25083013). Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes (PubMed:25083013). Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA/B/G, NR1H3/LXRA, NR1H4 and VDR transactivation activity. Inhibits HNF1A-mediated transactivation of CYP1A2, CYP2E1 AND CYP3A11 (By similarity).By similarity7 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Repressor
Biological processBiological rhythms, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9C0J9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1368108, BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-400253, Circadian Clock

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9C0J9

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9C0J9

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Class E basic helix-loop-helix protein 41Curated
Short name:
bHLHe41
Alternative name(s):
Class B basic helix-loop-helix protein 3
Short name:
bHLHb3
Differentially expressed in chondrocytes protein 2
Short name:
hDEC2
Enhancer-of-split and hairy-related protein 1
Short name:
SHARP-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BHLHE41Imported
Synonyms:BHLHB3, DEC21 Publication, SHARP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000123095.5

Human Gene Nomenclature Database

More...HGNCi		HGNC:16617, BHLHE41

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606200, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9C0J9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi70 – 71LL → AA: Abolishes RXRA repression. 1 Publication2

Organism-specific databases

DisGeNET

More...DisGeNETi		79365

MalaCards human disease database

More...MalaCardsi		BHLHE41
MIMi612975, phenotype

Open Targets

More...OpenTargetsi		ENSG00000123095

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164716636

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9C0J9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BHLHE41

Domain mapping of disease mutations (DMDM)

More...DMDMi		20137459

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001271471 – 482Class E basic helix-loop-helix protein 41Add BLAST482

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki31Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki121Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki210Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki266Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9C0J9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9C0J9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9C0J9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9C0J9

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9C0J9

PeptideAtlas

More...PeptideAtlasi		Q9C0J9

PRoteomics IDEntifications database

More...PRIDEi		Q9C0J9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80065

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9C0J9

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9C0J9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9C0J9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000123095, Expressed in spinal cord and 232 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9C0J9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9C0J9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000123095, Tissue enhanced (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (By similarity). Heterodimer with BHLHE40/DEC1 (PubMed:15193144).

Interacts with CIART and ARNTL/BMAL1 (By similarity).

Interacts with RXRA (PubMed:19786558).

Interacts with NR0B2 and HNF1A (By similarity).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		122654, 38 interactors

Database of interacting proteins

More...DIPi		DIP-59904N

Protein interaction database and analysis system

More...IntActi		Q9C0J9, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000242728

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9C0J9, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9C0J9

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini44 – 99bHLHPROSITE-ProRule annotationAdd BLAST56
Domaini131 – 166OrangePROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni67 – 71Necessary for interaction with RXRA and repressor activity towards RXRA1 Publication5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi297 – 431Ala/Gly-richAdd BLAST135

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4304, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161014

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_049895_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9C0J9

KEGG Orthology (KO)

More...KOi		K03730

Identification of Orthologs from Complete Genome Data

More...OMAi		LYMCKSK

Database of Orthologous Groups

More...OrthoDBi		629563at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9C0J9

TreeFam database of animal gene trees

More...TreeFami		TF330859

Family and domain databases

Conserved Domains Database

More...CDDi		cd00083, HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011598, bHLH_dom
IPR036638, HLH_DNA-bd_sf
IPR003650, Orange_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07527, Hairy_orange, 1 hit
PF00010, HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00353, HLH, 1 hit
SM00511, ORANGE, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47459, SSF47459, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50888, BHLH, 1 hit
PS51054, ORANGE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q9C0J9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDEGIPHLQE RQLLEHRDFI GLDYSSLYMC KPKRSMKRDD TKDTYKLPHR 
        60         70         80         90        100
LIEKKRRDRI NECIAQLKDL LPEHLKLTTL GHLEKAVVLE LTLKHLKALT 
       110        120        130        140        150
ALTEQQHQKI IALQNGERSL KSPIQSDLDA FHSGFQTCAK EVLQYLSRFE 
       160        170        180        190        200
SWTPREPRCV QLINHLHAVA TQFLPTPQLL TQQVPLSKGT GAPSAAGSAA 
       210        220        230        240        250
APCLERAGQK LEPLAYCVPV IQRTQPSAEL AAENDTDTDS GYGGEAEARP 
       260        270        280        290        300
DREKGKGAGA SRVTIKQEPP GEDSPAPKRM KLDSRGGGSG GGPGGGAAAA 
       310        320        330        340        350
AAALLGPDPA AAAALLRPDA ALLSSLVAFG GGGGAPFPQP AAAAAPFCLP 
       360        370        380        390        400
FCFLSPSAAA AYVQPFLDKS GLEKYLYPAA AAAPFPLLYP GIPAPAAAAA 
       410        420        430        440        450
AAAAAAAAAA AFPCLSSVLS PPPEKAGAAA ATLLPHEVAP LGAPHPQHPH 
       460        470        480 
GRTHLPFAGP REPGNPESSA QEDPSQPGKE AP
Length:482
Mass (Da):50,498
Last modified:June 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2BECDC2FDEB7CE14
GO

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in BHLHE41 are associated with the familial natural short sleep 1 (FNSS1) phenotype, an autosomal dominant trait [MIMi:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_082585362Y → H Associated with short sleep phenotype; abolishes inhibition of CLOCK-ARNTL/BMAL1 and NPAS2/BMAL1 transactivation activities. 1 Publication1
Natural variantiVAR_082586384P → Q Associated with short sleep phenotype; heterogeneous phenotype; increases inhibition of CLOCK-ARNTL/BMAL1 and NPAS2/BMAL1 transactivation activities. 1 Publication1
Natural variantiVAR_063259384P → R Associated with short sleep phenotype; abolishes inhibition of CLOCK-ARNTL/BMAL1 and NPAS2/BMAL1 transactivation activities. 1 PublicationCorresponds to variant dbSNP:rs121912617EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB044088 mRNA Translation: BAB21502.1
EF015896 Genomic DNA Translation: ABM64207.1
CH471094 Genomic DNA Translation: EAW96527.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8706.1

Protein sequence database of the Protein Information Resource

More...PIRi		JC7583

NCBI Reference Sequences

More...RefSeqi		NP_110389.1, NM_030762.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000242728; ENSP00000242728; ENSG00000123095

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79365

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79365

UCSC genome browser

More...UCSCi		uc001rhb.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB044088 mRNA Translation: BAB21502.1
EF015896 Genomic DNA Translation: ABM64207.1
CH471094 Genomic DNA Translation: EAW96527.1
CCDSiCCDS8706.1
PIRiJC7583
RefSeqiNP_110389.1, NM_030762.2

3D structure databases

SMRiQ9C0J9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi122654, 38 interactors
DIPiDIP-59904N
IntActiQ9C0J9, 10 interactors
STRINGi9606.ENSP00000242728

PTM databases

iPTMnetiQ9C0J9
PhosphoSitePlusiQ9C0J9

Polymorphism and mutation databases

BioMutaiBHLHE41
DMDMi20137459

Proteomic databases

EPDiQ9C0J9
jPOSTiQ9C0J9
MassIVEiQ9C0J9
MaxQBiQ9C0J9
PaxDbiQ9C0J9
PeptideAtlasiQ9C0J9
PRIDEiQ9C0J9
ProteomicsDBi80065
TopDownProteomicsiQ9C0J9

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		24289, 408 antibodies

Genome annotation databases

EnsembliENST00000242728; ENSP00000242728; ENSG00000123095
GeneIDi79365
KEGGihsa:79365
UCSCiuc001rhb.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79365
DisGeNETi79365
EuPathDBiHostDB:ENSG00000123095.5

GeneCards: human genes, protein and diseases

More...GeneCardsi		BHLHE41
HGNCiHGNC:16617, BHLHE41
HPAiENSG00000123095, Tissue enhanced (skeletal)
MalaCardsiBHLHE41
MIMi606200, gene
612975, phenotype
neXtProtiNX_Q9C0J9
OpenTargetsiENSG00000123095
PharmGKBiPA164716636

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4304, Eukaryota
GeneTreeiENSGT00940000161014
HOGENOMiCLU_049895_0_0_1
InParanoidiQ9C0J9
KOiK03730
OMAiLYMCKSK
OrthoDBi629563at2759
PhylomeDBiQ9C0J9
TreeFamiTF330859

Enzyme and pathway databases

PathwayCommonsiQ9C0J9
ReactomeiR-HSA-1368108, BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-400253, Circadian Clock
SignaLinkiQ9C0J9
SIGNORiQ9C0J9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79365, 11 hits in 892 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		BHLHE41, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		BHLHB3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		79365
PharosiQ9C0J9, Tbio

Protein Ontology

More...PROi		PR:Q9C0J9
RNActiQ9C0J9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000123095, Expressed in spinal cord and 232 other tissues
ExpressionAtlasiQ9C0J9, baseline and differential
GenevisibleiQ9C0J9, HS

Family and domain databases

CDDicd00083, HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598, bHLH_dom
IPR036638, HLH_DNA-bd_sf
IPR003650, Orange_dom
PfamiView protein in Pfam
PF07527, Hairy_orange, 1 hit
PF00010, HLH, 1 hit
SMARTiView protein in SMART
SM00353, HLH, 1 hit
SM00511, ORANGE, 1 hit
SUPFAMiSSF47459, SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888, BHLH, 1 hit
PS51054, ORANGE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBHE41_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9C0J9
Secondary accession number(s): A2I2N8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 5, 2002
Last sequence update: June 1, 2001
Last modified: August 12, 2020
This is version 165 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again