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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: 2 out of 5-Experimental evidence at transcript leveli

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

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
Gene namesi
Name:BHLHE23
Synonyms:BHLHB4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000125533.5.
HGNCiHGNC:16093. BHLHE23.

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi128408.
OpenTargetsiENSG00000125533.
PharmGKBiPA164716615.

Polymorphism and mutation databases

DMDMi74751238.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002455261 – 225Class E basic helix-loop-helix protein 23Add BLAST225

Proteomic databases

PaxDbiQ8NDY6.
PRIDEiQ8NDY6.

PTM databases

iPTMnetiQ8NDY6.
PhosphoSitePlusiQ8NDY6.

Expressioni

Gene expression databases

BgeeiENSG00000125533.
ExpressionAtlasiQ8NDY6. baseline and differential.
GenevisibleiQ8NDY6. HS.

Organism-specific databases

HPAiHPA030575.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi126119. 15 interactors.
IntActiQ8NDY6. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliQ8NDY6.
SMRiQ8NDY6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini100 – 154bHLHPROSITE-ProRule annotationAdd BLAST55

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi78 – 112Arg-richAdd BLAST35

Phylogenomic databases

eggNOGiKOG3898. Eukaryota.
ENOG4111U26. LUCA.
GeneTreeiENSGT00530000063239.
HOGENOMiHOG000060094.
HOVERGENiHBG065837.
InParanoidiQ8NDY6.
KOiK09086.
PhylomeDBiQ8NDY6.
TreeFamiTF322733.

Family and domain databases

CDDicd00083. HLH. 1 hit.
Gene3Di4.10.280.10. 1 hit.
InterProiView protein in InterPro
IPR011598. bHLH_dom.
IPR032662. Bhlhe23.
PANTHERiPTHR19290:SF126. PTHR19290:SF126. 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.

Sequencei

Sequence statusi: Complete.

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
Checksum:i77B5720A3CE42E85
GO

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.
UniGeneiHs.551230.

Genome annotation databases

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

Similar proteinsi

Entry informationi

Entry nameiBHE23_HUMAN
AccessioniPrimary (citable) accession number: Q8NDY6
Secondary accession number(s): B2RP69
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: October 1, 2002
Last modified: September 27, 2017
This is version 111 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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