Reviewed, UniProtKB/Swiss-Prot Q8NFJ8 (BHE22_HUMAN)

Names and origin

Protein names

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 names

Name:	BHLHE22
Synonyms:	BHLHB5, TNRC20

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	381 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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 basic helix-loop-helix (bHLH) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Molecular function	Repressor
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	regulation of transcription Inferred from electronic annotation. Source: UniProtKB-KW transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 381	381	Class E basic helix-loop-helix protein 22		PRO_0000274285
Regions
	Domain	255 – 297	43	Helix-loop-helix motif
	DNA binding	235 – 254	20	Basic motif
	Compositional bias	56 – 60	5	Poly-Ser
	Compositional bias	72 – 225	154	Gly-rich
	Compositional bias	208 – 234	27	Ser-rich
	Compositional bias	315 – 357	43	Ala-rich

Sequences

	Sequence		Length	Mass (Da)
	Q8NFJ8-1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 7B17A9BD5C7F8569	FASTA	381	36,997
	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

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: 12213201] [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: 14516699] [Abstract] Cited for: IDENTIFICATION.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF504925 Genomic DNA. Translation: AAM28881.1. BK000273 mRNA. Translation: DAA01053.1.
IPI	IPI00168844.
RefSeq	NP_689627.1.
UniGene	Hs.388788 Hs.591870
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q8NFJ8.
Proteomic databases
PRIDE	Q8NFJ8.
Genome annotation databases
Ensembl	ENST00000321870; ENSP00000318799; ENSG00000180828; Homo sapiens. [Genome view]
GeneID	27319.
KEGG	hsa:27319.
UCSC	uc003xvi.1. human.
Organism-specific databases
CTD	27319.
GeneCards	GC08P065656.
H-InvDB	HIX0007544.
HGNC	HGNC:11963. BHLHE22.
PharmGKB	PA36650.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8NFJ8.
OMA	MERGMHL
OrthoDB	EOG97WR7G
Gene expression databases
ArrayExpress	Q8NFJ8.
Bgee	Q8NFJ8.
Genevestigator	Q8NFJ8.
Family and domain databases
InterPro	IPR001092. HLH_basic. IPR011598. HLH_DNA_bd. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
PROSITE	PS50888. HLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	50328.

Entry information

Entry name

BHE22_HUMAN

Accession

Primary (citable) accession number: Q8NFJ8

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 6, 2007
Last sequence update:	October 1, 2002
Last modified:	November 24, 2009
This is version 47 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.