UniProtKB - Q8NFJ8 (BHE22_HUMAN)
Class E basic helix-loop-helix protein 22
BHLHE22
Functioni
Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity).
In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal cord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation.
By similarityGO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- protein dimerization activity Source: InterPro
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- neuron differentiation Source: GO_Central
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Repressor |
Biological process | Neurogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q8NFJ8 |
SignaLinki | Q8NFJ8 |
Names & Taxonomyi
Protein namesi | Recommended name: Class E basic helix-loop-helix protein 22Short name: bHLHe22 Alternative name(s): Class B basic helix-loop-helix protein 5 Short name: bHLHb5 Trinucleotide repeat-containing gene 20 protein |
Gene namesi | Name:BHLHE22 Synonyms:BHLHB5, TNRC20 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11963, BHLHE22 |
MIMi | 613483, gene |
neXtProti | NX_Q8NFJ8 |
VEuPathDBi | HostDB:ENSG00000180828 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 27319 |
OpenTargetsi | ENSG00000180828 |
PharmGKBi | PA36650 |
Miscellaneous databases
Pharosi | Q8NFJ8, Tbio |
Genetic variation databases
BioMutai | BHLHE22 |
DMDMi | 74751284 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000274285 | 1 – 381 | Class E basic helix-loop-helix protein 22Add BLAST | 381 |
Proteomic databases
MassIVEi | Q8NFJ8 |
PaxDbi | Q8NFJ8 |
PeptideAtlasi | Q8NFJ8 |
PRIDEi | Q8NFJ8 |
ProteomicsDBi | 73318 |
PTM databases
iPTMneti | Q8NFJ8 |
PhosphoSitePlusi | Q8NFJ8 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000180828, Expressed in cerebellar vermis and 167 other tissues |
Genevisiblei | Q8NFJ8, HS |
Organism-specific databases
HPAi | ENSG00000180828, Tissue enriched (brain) |
Interactioni
Subunit structurei
Interacts with PRDM8.
By similarityGO - Molecular functioni
- protein dimerization activity Source: InterPro
Protein-protein interaction databases
STRINGi | 9606.ENSP00000318799 |
Miscellaneous databases
RNActi | Q8NFJ8, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 242 – 296 | bHLHPROSITE-ProRule annotationAdd BLAST | 55 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 30 – 94 | DisorderedSequence analysisAdd BLAST | 65 | |
Regioni | 135 – 154 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 188 – 242 | DisorderedSequence analysisAdd BLAST | 55 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 206 – 236 | Polar residuesSequence analysisAdd BLAST | 31 |
Phylogenomic databases
eggNOGi | KOG3898, Eukaryota |
GeneTreei | ENSGT00940000162962 |
HOGENOMi | CLU_070971_0_0_1 |
InParanoidi | Q8NFJ8 |
OMAi | SDGRCDM |
OrthoDBi | 1617813at2759 |
PhylomeDBi | Q8NFJ8 |
TreeFami | TF322733 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR032654, Bhlhe22 IPR036638, HLH_DNA-bd_sf |
PANTHERi | PTHR19290:SF52, PTHR19290:SF52, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
i Sequence
Sequence statusi: Complete.
10 20 30 40 50
MERGMHLGAA AAGEDDLFLH KSLSASTSKR LEAAFRSTPP GMDLSLAPPP
60 70 80 90 100
RERPASSSSS PLGCFEPADP EGAGLLLPPP GGGGGGSAGS GGGGGGGVGV
110 120 130 140 150
PGLLVGSAGV GGDPSLSSLP AGAALCLKYG ESASRGSVAE SSGGEQSPDD
160 170 180 190 200
DSDGRCELVL RAGVADPRAS PGAGGGGAKA AEGCSNAHLH GGASVPPGGL
210 220 230 240 250
GGGGGGGSSS GSSGGGGGSG SGSGGSSSSS SSSSKKSKEQ KALRLNINAR
260 270 280 290 300
ERRRMHDLND ALDELRAVIP YAHSPSVRKL SKIATLLLAK NYILMQAQAL
310 320 330 340 350
EEMRRLVAYL NQGQAISAAS LPSSAAAAAA AAALHPALGA YEQAAGYPFS
360 370 380
AGLPPAASCP EKCALFNSVS SSLCKQCTEK P
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061255 | 28 | S → A. Corresponds to variant dbSNP:rs7016250Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF504925 Genomic DNA Translation: AAM28881.1 BK000273 mRNA Translation: DAA01053.1 |
CCDSi | CCDS6179.1 |
RefSeqi | NP_689627.1, NM_152414.4 |
Genome annotation databases
Ensembli | ENST00000321870.3; ENSP00000318799.1; ENSG00000180828.3 |
GeneIDi | 27319 |
KEGGi | hsa:27319 |
MANE-Selecti | ENST00000321870.3; ENSP00000318799.1; NM_152414.5; NP_689627.1 |
UCSCi | uc003xvi.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF504925 Genomic DNA Translation: AAM28881.1 BK000273 mRNA Translation: DAA01053.1 |
CCDSi | CCDS6179.1 |
RefSeqi | NP_689627.1, NM_152414.4 |
3D structure databases
AlphaFoldDBi | Q8NFJ8 |
SMRi | Q8NFJ8 |
ModBasei | Search... |
Protein-protein interaction databases
STRINGi | 9606.ENSP00000318799 |
PTM databases
iPTMneti | Q8NFJ8 |
PhosphoSitePlusi | Q8NFJ8 |
Genetic variation databases
BioMutai | BHLHE22 |
DMDMi | 74751284 |
Proteomic databases
MassIVEi | Q8NFJ8 |
PaxDbi | Q8NFJ8 |
PeptideAtlasi | Q8NFJ8 |
PRIDEi | Q8NFJ8 |
ProteomicsDBi | 73318 |
Protocols and materials databases
Antibodypediai | 11910, 157 antibodies from 26 providers |
DNASUi | 27319 |
Genome annotation databases
Ensembli | ENST00000321870.3; ENSP00000318799.1; ENSG00000180828.3 |
GeneIDi | 27319 |
KEGGi | hsa:27319 |
MANE-Selecti | ENST00000321870.3; ENSP00000318799.1; NM_152414.5; NP_689627.1 |
UCSCi | uc003xvi.4, human |
Organism-specific databases
CTDi | 27319 |
DisGeNETi | 27319 |
GeneCardsi | BHLHE22 |
HGNCi | HGNC:11963, BHLHE22 |
HPAi | ENSG00000180828, Tissue enriched (brain) |
MIMi | 613483, gene |
neXtProti | NX_Q8NFJ8 |
OpenTargetsi | ENSG00000180828 |
PharmGKBi | PA36650 |
VEuPathDBi | HostDB:ENSG00000180828 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3898, Eukaryota |
GeneTreei | ENSGT00940000162962 |
HOGENOMi | CLU_070971_0_0_1 |
InParanoidi | Q8NFJ8 |
OMAi | SDGRCDM |
OrthoDBi | 1617813at2759 |
PhylomeDBi | Q8NFJ8 |
TreeFami | TF322733 |
Enzyme and pathway databases
PathwayCommonsi | Q8NFJ8 |
SignaLinki | Q8NFJ8 |
Miscellaneous databases
BioGRID-ORCSi | 27319, 19 hits in 1086 CRISPR screens |
GenomeRNAii | 27319 |
Pharosi | Q8NFJ8, Tbio |
PROi | PR:Q8NFJ8 |
RNActi | Q8NFJ8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000180828, Expressed in cerebellar vermis and 167 other tissues |
Genevisiblei | Q8NFJ8, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR032654, Bhlhe22 IPR036638, HLH_DNA-bd_sf |
PANTHERi | PTHR19290:SF52, PTHR19290:SF52, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | BHE22_HUMAN | |
Accessioni | Q8NFJ8Primary (citable) accession number: Q8NFJ8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 6, 2007 |
Last sequence update: | October 1, 2002 | |
Last modified: | May 25, 2022 | |
This is version 135 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot