Q8NFJ8 (BHE22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	381 AA.
Sequence status	Complete.
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 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterior commissure morphogenesis Inferred from electronic annotation. Source: Compara corpus callosum morphogenesis Inferred from electronic annotation. Source: Compara corticospinal tract morphogenesis Inferred from electronic annotation. Source: Compara negative regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: Compara retinal bipolar neuron differentiation Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	chromatin binding Inferred from electronic annotation. Source: Compara sequence-specific DNA binding RNA polymerase II transcription factor activity Inferred from electronic annotation. Source: Compara
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	242 – 296	55	bHLH
	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
Natural variations
	Natural variant	28	1	S → A. Corresponds to variant rs7016250 [ dbSNP | Ensembl ].		VAR_061255

Sequences

	Sequence		Length	Mass (Da)
	Q8NFJ8 [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] [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.
IPI	IPI00168844.
RefSeq	NP_689627.1. NM_152414.4.
UniGene	Hs.388788. Hs.591870. Hs.741446.
3D structure databases
ProteinModelPortal	Q8NFJ8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000318799.
PTM databases
PhosphoSite	Q8NFJ8.
Polymorphism databases
DMDM	74751284.
Proteomic databases
PaxDb	Q8NFJ8.
PRIDE	Q8NFJ8.
Protocols and materials databases
DNASU	27319.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321870; ENSP00000318799; ENSG00000180828.
GeneID	27319.
KEGG	hsa:27319.
UCSC	uc003xvi.3. human.
Organism-specific databases
CTD	27319.
GeneCards	GC08P065492.
H-InvDB	HIX0007544.
HGNC	HGNC:11963. BHLHE22.
MIM	613483. gene.
neXtProt	NX_Q8NFJ8.
PharmGKB	PA36650.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG308077.
InParanoid	Q8NFJ8.
KO	K09086.
OMA	MERGMHL.
OrthoDB	EOG47M1ZW.
PhylomeDB	Q8NFJ8.
Gene expression databases
Bgee	Q8NFJ8.
Genevestigator	Q8NFJ8.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	27319.
NextBio	50328.
SOURCE	Search...

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:	May 1, 2013
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.