Reviewed, UniProtKB/Swiss-Prot Q8NFJ8 (BHLH5_HUMAN)

Names and origin

Protein names

Recommended name:
    Class B basic helix-loop-helix protein 5
Alternative name(s):
    bHLHB5
    Trinucleotide repeat-containing gene 20 protein

Gene names

Name:	BHLHB5
Synonyms:	TNRC20

Organism

Homo sapiens (Human)

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	NucleusProbable.
Tissue specificity	Brain-specific, with the highest expression in the cerebellum.
Sequence similarities	Contains 1 basic helix-loop-helix (bHLH) domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Molecular function	Repressor
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 381	381	Class B basic helix-loop-helix protein 5
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.
RefSeq	NP_689627.1.
UniGene	Hs.388788 Hs.591870
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000180828. Homo sapiens. [Contig view]
GeneID	27319.
KEGG	hsa:27319.
Organism-specific databases
H-InvDB	HIX0007544.
HGNC	HGNC:11963. BHLHB5.
PharmGKB	PA36650.
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOVERGEN	Q8NFJ8.
Gene expression databases
ArrayExpress	Q8NFJ8.
CleanEx	HS_BHLHB5.
Family and domain databases
InterPro	IPR001092. HLH_basic. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
PROSITE	PS50888. HLH. 1 hit. [Graphical view]
ProDom	Q8NFJ8. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
ProtoNet	Search...

Entry information

Entry name

BHLH5_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:	July 22, 2008
This is version 32 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)