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Entry version 138 (25 May 2022)
Sequence version 1 (01 Oct 2002)
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Protein

Class E basic helix-loop-helix protein 23

Gene

BHLHE23

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

Annotation score:3 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

May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation (By similarity).

By similarity

<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

GO - Biological processi

<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
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8NDY6

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

More...
SignaLinki
Q8NDY6

<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 23
Short name:
bHLHe23
Alternative name(s):
Class B basic helix-loop-helix protein 4
Short name:
bHLHb4
<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:BHLHE23
Synonyms:BHLHB4
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16093, BHLHE23

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609331, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NDY6

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000125533

<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

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
128408

Open Targets

More...
OpenTargetsi
ENSG00000125533

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164716615

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NDY6, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BHLHE23

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74751238

<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_00002455261 – 225Class E basic helix-loop-helix protein 23Add BLAST225

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NDY6

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

More...
PaxDbi
Q8NDY6

PeptideAtlas

More...
PeptideAtlasi
Q8NDY6

PRoteomics IDEntifications database

More...
PRIDEi
Q8NDY6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73092

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NDY6

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

More...
PhosphoSitePlusi
Q8NDY6

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000125533, Expressed in subventricular zone (outer) (primate) and 10 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NDY6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NDY6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000125533, Tissue enriched (brain)

<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 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
126119, 20 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NDY6, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000480998

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NDY6, 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

AlphaFold Protein Structure Database

More...
AlphaFoldDBi
Q8NDY6

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

More...
SMRi
Q8NDY6

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>Domaini100 – 154bHLHPROSITE-ProRule annotationAdd BLAST55

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>Regioni35 – 104DisorderedSequence analysisAdd BLAST70

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi72 – 104Basic and acidic residuesSequence analysisAdd BLAST33

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3898, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162992

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_070971_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NDY6

Database of Orthologous Groups

More...
OrthoDBi
1617813at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NDY6

TreeFam database of animal gene trees

More...
TreeFami
TF322733

Family and domain databases

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
IPR032662, Bhlhe23
IPR036638, HLH_DNA-bd_sf

The PANTHER Classification System

More...
PANTHERi
PTHR19290:SF53, PTHR19290:SF53, 1 hit

Pfam protein domain database

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

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00353, HLH, 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

<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>Sequence (1+)i

<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.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q8NDY6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAELKSLSGD AYLALSHGYA AAAAGLAYGA AREPEAARGY GTPGPGGDLP
60 70 80 90 100
AAPAPRAPAQ AAESSGEQSG DEDDAFEQRR RRRGPGSAAD GRRRPREQRS
110 120 130 140 150
LRLSINARER RRMHDLNDAL DGLRAVIPYA HSPSVRKLSK IATLLLAKNY
160 170 180 190 200
ILMQAQALDE MRRLVAFLNQ GQGLAAPVNA APLTPFGQAT VCPFSAGAAL
210 220
GPCPDKCAAF SGTPSALCKH CHEKP
Length:225
Mass (Da):23,665
Last modified:October 1, 2002 - 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:i77B5720A3CE42E85
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXG3A0A087WXG3_HUMAN
Class E basic helix-loop-helix prot...
BHLHE23
241Annotation score:

Annotation score:2 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>

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
AL121673 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75311.1
BC137288 mRNA Translation: AAI37289.1
BC137308 mRNA Translation: AAI37309.1
BK000274 mRNA Translation: DAA01054.1

NCBI Reference Sequences

More...
RefSeqi
NP_542173.2, NM_080606.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000370346.2; ENSP00000359371.2; ENSG00000125533.6

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
128408

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:128408

UCSC genome browser

More...
UCSCi
uc061ykj.1, human

<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
AL121673 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75311.1
BC137288 mRNA Translation: AAI37289.1
BC137308 mRNA Translation: AAI37309.1
BK000274 mRNA Translation: DAA01054.1
RefSeqiNP_542173.2, NM_080606.3

3D structure databases

AlphaFoldDBiQ8NDY6
SMRiQ8NDY6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126119, 20 interactors
IntActiQ8NDY6, 1 interactor
STRINGi9606.ENSP00000480998

PTM databases

iPTMnetiQ8NDY6
PhosphoSitePlusiQ8NDY6

Genetic variation databases

BioMutaiBHLHE23
DMDMi74751238

Proteomic databases

MassIVEiQ8NDY6
PaxDbiQ8NDY6
PeptideAtlasiQ8NDY6
PRIDEiQ8NDY6
ProteomicsDBi73092

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
29641, 21 antibodies from 13 providers

The DNASU plasmid repository

More...
DNASUi
128408

Genome annotation databases

EnsembliENST00000370346.2; ENSP00000359371.2; ENSG00000125533.6
GeneIDi128408
KEGGihsa:128408
UCSCiuc061ykj.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
128408
DisGeNETi128408

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BHLHE23
HGNCiHGNC:16093, BHLHE23
HPAiENSG00000125533, Tissue enriched (brain)
MIMi609331, gene
neXtProtiNX_Q8NDY6
OpenTargetsiENSG00000125533
PharmGKBiPA164716615
VEuPathDBiHostDB:ENSG00000125533

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3898, Eukaryota
GeneTreeiENSGT00940000162992
HOGENOMiCLU_070971_2_0_1
InParanoidiQ8NDY6
OrthoDBi1617813at2759
PhylomeDBiQ8NDY6
TreeFamiTF322733

Enzyme and pathway databases

PathwayCommonsiQ8NDY6
SignaLinkiQ8NDY6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
128408, 5 hits in 296 CRISPR screens

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

More...
ChiTaRSi
BHLHE23, human

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

More...
GenomeRNAii
128408
PharosiQ8NDY6, Tdark

Protein Ontology

More...
PROi
PR:Q8NDY6
RNActiQ8NDY6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125533, Expressed in subventricular zone (outer) (primate) and 10 other tissues
ExpressionAtlasiQ8NDY6, baseline and differential
GenevisibleiQ8NDY6, HS

Family and domain databases

Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598, bHLH_dom
IPR032662, Bhlhe23
IPR036638, HLH_DNA-bd_sf
PANTHERiPTHR19290:SF53, PTHR19290:SF53, 1 hit
PfamiView protein in Pfam
PF00010, HLH, 1 hit
SMARTiView protein in SMART
SM00353, HLH, 1 hit
SUPFAMiSSF47459, SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888, BHLH, 1 hit

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 nameiBHE23_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: Q8NDY6
Secondary accession number(s): B2RP69
<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: July 11, 2006
Last sequence update: October 1, 2002
Last modified: May 25, 2022
This is version 138 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 20
    Human chromosome 20: 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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