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Protein

Class E basic helix-loop-helix protein 22

Gene

BHLHE22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

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 chord 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 similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRepressor
Biological processNeurogenesis, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Class E basic helix-loop-helix protein 22
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000180828.2
HGNCiHGNC:11963 BHLHE22
MIMi613483 gene
neXtProtiNX_Q8NFJ8

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

DisGeNETi27319
OpenTargetsiENSG00000180828
PharmGKBiPA36650

Polymorphism and mutation databases

BioMutaiBHLHE22
DMDMi74751284

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002742851 – 381Class E basic helix-loop-helix protein 22Add BLAST381

Proteomic databases

PaxDbiQ8NFJ8
PeptideAtlasiQ8NFJ8
PRIDEiQ8NFJ8

PTM databases

iPTMnetiQ8NFJ8
PhosphoSitePlusiQ8NFJ8

Expressioni

Tissue specificityi

Brain-specific, with the highest expression in the cerebellum.1 Publication

Gene expression databases

BgeeiENSG00000180828
GenevisibleiQ8NFJ8 HS

Organism-specific databases

HPAiHPA064128
HPA064872
HPA067500

Interactioni

Subunit structurei

Interacts with PRDM8.By similarity

GO - Molecular functioni

Protein-protein interaction databases

STRINGi9606.ENSP00000318799

Structurei

3D structure databases

ProteinModelPortaliQ8NFJ8
SMRiQ8NFJ8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini242 – 296bHLHPROSITE-ProRule annotationAdd BLAST55

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi56 – 60Poly-Ser5
Compositional biasi72 – 225Gly-richAdd BLAST154
Compositional biasi208 – 234Ser-richAdd BLAST27
Compositional biasi315 – 357Ala-richAdd BLAST43

Phylogenomic databases

eggNOGiKOG3898 Eukaryota
ENOG410ZDH5 LUCA
GeneTreeiENSGT00530000063239
InParanoidiQ8NFJ8
KOiK09086
OMAiCKQCTDK
OrthoDBiEOG091G129L
PhylomeDBiQ8NFJ8
TreeFamiTF322733

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR032654 Bhlhe22
IPR036638 HLH_DNA-bd_sf
PANTHERiPTHR19290:SF52 PTHR19290:SF52, 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.

Q8NFJ8-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:381
Mass (Da):36,997
Last modified:October 1, 2002 - v1
Checksum:i7B17A9BD5C7F8569
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06125528S → 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
CCDSiCCDS6179.1
RefSeqiNP_689627.1, NM_152414.4
UniGeneiHs.388788
Hs.591870
Hs.745052

Genome annotation databases

EnsembliENST00000321870; ENSP00000318799; ENSG00000180828
GeneIDi27319
KEGGihsa:27319
UCSCiuc003xvi.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBHE22_HUMAN
AccessioniPrimary (citable) accession number: Q8NFJ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: October 1, 2002
Last modified: May 23, 2018
This is version 114 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

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