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Q8NFJ8 (BHE22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:BHLHE22
Synonyms:BHLHB5, TNRC20
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length381 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus Probable.

Tissue specificity

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

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 381381Class E basic helix-loop-helix protein 22
PRO_0000274285

Regions

Domain242 – 29655bHLH
Compositional bias56 – 605Poly-Ser
Compositional bias72 – 225154Gly-rich
Compositional bias208 – 23427Ser-rich
Compositional bias315 – 35743Ala-rich

Natural variations

Natural variant281S → A.
Corresponds to variant rs7016250 [ dbSNP | Ensembl ].
VAR_061255

Sequences

Sequence LengthMass (Da)Tools
Q8NFJ8 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 7B17A9BD5C7F8569

FASTA38136,997
        10         20         30         40         50         60 
MERGMHLGAA AAGEDDLFLH KSLSASTSKR LEAAFRSTPP GMDLSLAPPP RERPASSSSS 

        70         80         90        100        110        120 
PLGCFEPADP EGAGLLLPPP GGGGGGSAGS GGGGGGGVGV PGLLVGSAGV GGDPSLSSLP 

       130        140        150        160        170        180 
AGAALCLKYG ESASRGSVAE SSGGEQSPDD DSDGRCELVL RAGVADPRAS PGAGGGGAKA 

       190        200        210        220        230        240 
AEGCSNAHLH GGASVPPGGL GGGGGGGSSS GSSGGGGGSG SGSGGSSSSS SSSSKKSKEQ 

       250        260        270        280        290        300 
KALRLNINAR ERRRMHDLND ALDELRAVIP YAHSPSVRKL SKIATLLLAK NYILMQAQAL 

       310        320        330        340        350        360 
EEMRRLVAYL NQGQAISAAS LPSSAAAAAA AAALHPALGA YEQAAGYPFS AGLPPAASCP 

       370        380 
EKCALFNSVS SSLCKQCTEK P 

« Hide

References

[1]"Functional and structural characterization of the human gene BHLHB5, encoding a basic helix-loop-helix transcription factor."
Xu Z.-P., Dutra A., Stellrecht C.M., Wu C., Piatigorsky J., Saunders G.F.
Genomics 80:311-318(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
[2]"Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening."
McLellan A.S., Langlands K., Kealey T.
Mech. Dev. 119:S285-S291(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF504925 Genomic DNA. Translation: AAM28881.1.
BK000273 mRNA. Translation: DAA01053.1.
CCDSCCDS6179.1.
RefSeqNP_689627.1. NM_152414.4.
UniGeneHs.388788.
Hs.591870.
Hs.745052.

3D structure databases

ProteinModelPortalQ8NFJ8.
SMRQ8NFJ8. Positions 244-305.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000318799.

PTM databases

PhosphoSiteQ8NFJ8.

Polymorphism databases

DMDM74751284.

Proteomic databases

PaxDbQ8NFJ8.
PRIDEQ8NFJ8.

Protocols and materials databases

DNASU27319.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321870; ENSP00000318799; ENSG00000180828.
GeneID27319.
KEGGhsa:27319.
UCSCuc003xvi.3. human.

Organism-specific databases

CTD27319.
GeneCardsGC08P065492.
H-InvDBHIX0007544.
HGNCHGNC:11963. BHLHE22.
MIM613483. gene.
neXtProtNX_Q8NFJ8.
PharmGKBPA36650.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG308077.
InParanoidQ8NFJ8.
KOK09086.
OMAMERGMHL.
OrthoDBEOG7GQXWR.
PhylomeDBQ8NFJ8.
TreeFamTF322733.

Gene expression databases

BgeeQ8NFJ8.
GenevestigatorQ8NFJ8.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi27319.
NextBio50328.
PROQ8NFJ8.
SOURCESearch...

Entry information

Entry nameBHE22_HUMAN
AccessionPrimary (citable) accession number: Q8NFJ8
Entry history
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM