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UniProtKB - O14503 (BHE40_HUMAN)

Entry version 183 (10 Feb 2021)
Sequence version 1 (01 Jan 1998)
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Protein

Class E basic helix-loop-helix protein 40

Gene

BHLHE40

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:12397359, PubMed:18411297). 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) (PubMed:14672706). Both these loops are interlocked as it represses the expression of PER1/2 and in turn is repressed by PER1/2 and CRY1/2 (PubMed:15193144). Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes (PubMed:15560782). Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2 (PubMed:14672706). Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA and NR1H3/LXRA transactivation activity (PubMed:19786558). May be involved in the regulation of chondrocyte differentiation via the cAMP pathway (PubMed:19786558). Represses the transcription of NR0B2 and attentuates the transactivation of NR0B2 by the CLOCK-ARNTL/BMAL1 complex (PubMed:28797635). Drives the circadian rhythm of blood pressure through transcriptional repression of ATP1B1 in the cardiovascular system (PubMed:30012868).8 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		O14503

Reactome - a knowledgebase of biological pathways and processes

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

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

More...SignaLinki		O14503

SIGNOR Signaling Network Open Resource

More...SIGNORi		O14503

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		O14503, Predicted

<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 40
Short name:
bHLHe40
Alternative name(s):
Class B basic helix-loop-helix protein 2
Short name:
bHLHb2
Differentially expressed in chondrocytes protein 12 Publications
Short name:
DEC12 Publications
Enhancer-of-split and hairy-related protein 2
Short name:
SHARP-2
Stimulated by retinoic acid gene 13 protein
<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:BHLHE40
Synonyms:BHLHB2, DEC12 Publications, SHARP2, STRA13
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1046, BHLHE40

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604256, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O14503

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000134107.4

<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

Cytoplasm, 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>Mutagenesisi56P → A: No loss of repressor activity against NR0B2. 1 Publication1
Mutagenesisi57H → A: No effect on its interaction with ARNTL/BMAL1 or its repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer. Significant reduction in E-box binding. 1 Publication1
Mutagenesisi58R → A: Loss of repressor activity against NR0B2. 1 Publication1
Mutagenesisi65R → A: Loss of interaction with ARNTL/BMAL1 and E-box binding. Significant reduction in its repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer. 1 Publication1
Mutagenesisi78 – 79LL → AA: Abolishes RXRA repression. 1 Publication2
Mutagenesisi159K → R: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-279. 1 Publication1
Mutagenesisi279K → R: Partial loss of sumoylation. Complete loss of sumoylation; when associated with R-159. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		8553

Open Targets

More...OpenTargetsi		ENSG00000134107

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25347

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O14503, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BHLHE40

<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_00001271441 – 412Class E basic helix-loop-helix protein 40Add BLAST412

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-linki159Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1, SUMO2 and SUMO3)1 Publication
Cross-linki167Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei235PhosphoserineCombined sources1
Cross-linki279Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki279Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1, SUMO2 and SUMO3); alternate
Cross-linki279Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki288Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei383PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated; which may lead to proteasomal degradation.1 Publication
Sumoylation inhibits its ubiquitination and promotes its negative regulation of the CLOCK-ARNTL/BMAL1 heterodimer transcriptional activator activity.2 Publications

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O14503

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O14503

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O14503

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

More...PaxDbi		O14503

PeptideAtlas

More...PeptideAtlasi		O14503

PRoteomics IDEntifications database

More...PRIDEi		O14503

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48045

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O14503

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

More...PhosphoSitePlusi		O14503

<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

Expressed in cartilage, spleen, intestine, lung, and to a lesser extent in heart, brain, liver, muscle and stomach.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000134107, Expressed in ectocervix and 244 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O14503, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O14503, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000134107, Low tissue specificity

<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. Heterodimer with BHLHE41/DEC2.

Interacts with TCF3/E47.

Interacts with ubiquitin-conjugating enzyme UBE2I/UBC9.

Interacts with HDAC1, SUMO1, RXRA and ARNTL/BMAL1.

6 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

O14503
With#Exp.IntAct
AAMP [C9JG97]3EBI-711810,EBI-10176499
AANAT [Q16613]6EBI-711810,EBI-7451846
ATXN1 [P54253]3EBI-711810,EBI-930964
BYSL [Q13895]3EBI-711810,EBI-358049
CCNK [O75909]3EBI-711810,EBI-739806
CDPF1 [Q6NVV7]3EBI-711810,EBI-2802782
COX5B [P10606]4EBI-711810,EBI-1053725
CREM - isoform 22 [Q03060-25]3EBI-711810,EBI-12884642
DAB1 [O75553]3EBI-711810,EBI-7875264
DAZAP2 [Q15038]5EBI-711810,EBI-724310
DVL3 [Q92997]3EBI-711810,EBI-739789
EHHADH [Q08426]3EBI-711810,EBI-2339219
FAM83A [Q86UY5]6EBI-711810,EBI-1384254
GMCL2 [Q8NEA9]3EBI-711810,EBI-745707
GPSM1 - isoform 3 [Q86YR5-3]3EBI-711810,EBI-10261098
KLHDC7B [Q96G42]3EBI-711810,EBI-9478422
KRTAP19-1 [Q8IUB9]3EBI-711810,EBI-12811111
KRTAP19-5 [Q3LI72]3EBI-711810,EBI-1048945
KRTAP19-7 [Q3SYF9]3EBI-711810,EBI-10241353
KRTAP23-1 [A1A580]3EBI-711810,EBI-10171734
KRTAP6-1 [Q3LI64]3EBI-711810,EBI-12111050
KRTAP6-2 [Q3LI66]3EBI-711810,EBI-11962084
KRTAP8-1 [Q8IUC2]3EBI-711810,EBI-10261141
LARP4 - isoform 6 [Q71RC2-6]3EBI-711810,EBI-10255841
LASP1 - isoform 2 [Q14847-2]3EBI-711810,EBI-9088686
LMO3 - isoform 4 [Q8TAP4-4]3EBI-711810,EBI-11742507
MAGED1 [Q9Y5V3]6EBI-711810,EBI-716006
MCRS1 [Q96EZ8]3EBI-711810,EBI-348259
NAA50 [Q9GZZ1]6EBI-711810,EBI-1052523
NEK6 - isoform 4 [Q9HC98-4]3EBI-711810,EBI-11750983
NOC4L [Q9BVI4]3EBI-711810,EBI-395927
PDE6G [P18545]3EBI-711810,EBI-2622029
PFDN5 [Q99471]3EBI-711810,EBI-357275
PHF1 [O43189]3EBI-711810,EBI-530034
PLEKHB2 [Q96CS7]3EBI-711810,EBI-373552
POU6F2 [P78424]3EBI-711810,EBI-12029004
PRKAA1 [Q13131]3EBI-711810,EBI-1181405
PRR20D [P86480]3EBI-711810,EBI-12754095
RAD54L2 [Q9Y4B4]3EBI-711810,EBI-948156
RBFOX1 - isoform 5 [Q9NWB1-5]3EBI-711810,EBI-12123390
RBM23 [Q86U06]3EBI-711810,EBI-780319
RBM23 - isoform 2 [Q86U06-2]3EBI-711810,EBI-10258579
RBPMS [Q93062]3EBI-711810,EBI-740322
RBPMS2 [Q6ZRY4]3EBI-711810,EBI-11987469
RHOBTB3 [O94955]7EBI-711810,EBI-2367123
RHOJ [Q9H4E5]3EBI-711810,EBI-6285694
ROR2 [Q01974]3EBI-711810,EBI-6422642
RXRA [P19793]4EBI-711810,EBI-78598
SMAP2 [Q8WU79]3EBI-711810,EBI-2822515
SMYD1 [Q8NB12]8EBI-711810,EBI-8463848
SOGA1 - isoform 4 [O94964-4]3EBI-711810,EBI-14083835
SOX15 [O60248]3EBI-711810,EBI-5452954
STK19 [B7ZLI8]6EBI-711810,EBI-10176124
TENT5B [Q96A09]3EBI-711810,EBI-752030
TLE5 [Q08117]3EBI-711810,EBI-717810
TLE5 - isoform 2 [Q08117-2]3EBI-711810,EBI-11741437
TOB2 [Q14106]3EBI-711810,EBI-2562000
TP53 [P04637]11EBI-711810,EBI-366083
TTC23 [Q5W5X9]3EBI-711810,EBI-6447954
TXNL4B [Q9NX01]3EBI-711810,EBI-10309345
UBE2I [P63279]3EBI-711810,EBI-80168
USP54 - isoform 6 [Q70EL1-9]3EBI-711810,EBI-11975223
VAC14 [Q08AM6]6EBI-711810,EBI-2107455
VENTX [O95231]3EBI-711810,EBI-10191303
WT1 - isoform 6 [P19544-6]3EBI-711810,EBI-11745701
ZFHX3 - isoform B [Q15911-2]3EBI-711810,EBI-10237226
P0C206 from Human T-cell leukemia virus 1 (isolate Caribbea HS-35 subtype A).3EBI-711810,EBI-9675596

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114123, 102 interactors

Database of interacting proteins

More...DIPi		DIP-36698N

Protein interaction database and analysis system

More...IntActi		O14503, 118 interactors

Molecular INTeraction database

More...MINTi		O14503

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000256495

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O14503, 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		O14503

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>Domaini52 – 107bHLHPROSITE-ProRule annotationAdd BLAST56
Domaini142 – 175OrangePROSITE-ProRule annotationAdd BLAST34

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>Regioni1 – 139Essential for interaction with ARNTL/BMAL1, E-box binding and repressor activity against the CLOCK-ARNTL/BMAL1 heterodimerAdd BLAST139
Regioni75 – 79Necessary for interaction with RXRA and repressor activity against RXRA1 Publication5

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4304, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158384

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_049895_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O14503

Identification of Orthologs from Complete Genome Data

More...OMAi		NQPPFCL

Database of Orthologous Groups

More...OrthoDBi		629563at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O14503

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.

O14503-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MERIPSAQPP PACLPKAPGL EHGDLPGMYP AHMYQVYKSR RGIKRSEDSK 
        60         70         80         90        100
ETYKLPHRLI EKKRRDRINE CIAQLKDLLP EHLKLTTLGH LEKAVVLELT 
       110        120        130        140        150
LKHVKALTNL IDQQQQKIIA LQSGLQAGEL SGRNVETGQE MFCSGFQTCA 
       160        170        180        190        200
REVLQYLAKH ENTRDLKSSQ LVTHLHRVVS ELLQGGTSRK PSDPAPKVMD 
       210        220        230        240        250
FKEKPSSPAK GSEGPGKNCV PVIQRTFAHS SGEQSGSDTD TDSGYGGESE 
       260        270        280        290        300
KGDLRSEQPC FKSDHGRRFT MGERIGAIKQ ESEEPPTKKN RMQLSDDEGH 
       310        320        330        340        350
FTSSDLISSP FLGPHPHQPP FCLPFYLIPP SATAYLPMLE KCWYPTSVPV 
       360        370        380        390        400
LYPGLNASAA ALSSFMNPDK ISAPLLMPQR LPSPLPAHPS VDSSVLLQAL 
       410 
KPIPPLNLET KD
Length:412
Mass (Da):45,510
Last modified:January 1, 1998 - 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:i2D73A3D4980793E5
GO

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
AB004066 mRNA Translation: BAA21720.1
AB043885 Genomic DNA Translation: BAB18565.1
BC082238 mRNA Translation: AAH82238.1
AH010709 Genomic DNA Translation: AAK49525.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2565.1

Protein sequence database of the Protein Information Resource

More...PIRi		JC5547

NCBI Reference Sequences

More...RefSeqi		NP_003661.1, NM_003670.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000256495; ENSP00000256495; ENSG00000134107

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8553

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8553

<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
AB004066 mRNA Translation: BAA21720.1
AB043885 Genomic DNA Translation: BAB18565.1
BC082238 mRNA Translation: AAH82238.1
AH010709 Genomic DNA Translation: AAK49525.1
CCDSiCCDS2565.1
PIRiJC5547
RefSeqiNP_003661.1, NM_003670.2

3D structure databases

SMRiO14503
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114123, 102 interactors
DIPiDIP-36698N
IntActiO14503, 118 interactors
MINTiO14503
STRINGi9606.ENSP00000256495

Protein family/group databases

MoonDBiO14503, Predicted

PTM databases

iPTMnetiO14503
PhosphoSitePlusiO14503

Genetic variation databases

BioMutaiBHLHE40

Proteomic databases

EPDiO14503
jPOSTiO14503
MassIVEiO14503
PaxDbiO14503
PeptideAtlasiO14503
PRIDEiO14503
ProteomicsDBi48045

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		10051, 320 antibodies

The DNASU plasmid repository

More...DNASUi		8553

Genome annotation databases

EnsembliENST00000256495; ENSP00000256495; ENSG00000134107
GeneIDi8553
KEGGihsa:8553

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8553
DisGeNETi8553

GeneCards: human genes, protein and diseases

More...GeneCardsi		BHLHE40
HGNCiHGNC:1046, BHLHE40
HPAiENSG00000134107, Low tissue specificity
MIMi604256, gene
neXtProtiNX_O14503
OpenTargetsiENSG00000134107
PharmGKBiPA25347
VEuPathDBiHostDB:ENSG00000134107.4

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4304, Eukaryota
GeneTreeiENSGT00940000158384
HOGENOMiCLU_049895_0_1_1
InParanoidiO14503
OMAiNQPPFCL
OrthoDBi629563at2759
PhylomeDBiO14503
TreeFamiTF330859

Enzyme and pathway databases

PathwayCommonsiO14503
ReactomeiR-HSA-1368108, BMAL1:CLOCK,NPAS2 activates circadian gene expression
SignaLinkiO14503
SIGNORiO14503

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8553, 8 hits in 902 CRISPR screens

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

More...ChiTaRSi		BHLHE40, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		BHLHB2

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

More...GenomeRNAii		8553
PharosiO14503, Tbio

Protein Ontology

More...PROi		PR:O14503
RNActiO14503, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000134107, Expressed in ectocervix and 244 other tissues
ExpressionAtlasiO14503, baseline and differential
GenevisibleiO14503, 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 nameiBHE40_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: O14503
Secondary accession number(s): Q96TD3
<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: January 1, 1998
Last modified: February 10, 2021
This is version 183 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 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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