ID   BHE22_HUMAN             Reviewed;         381 AA.
AC   Q8NFJ8;
DT   06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   15-DEC-2009, entry version 48.
DE   RecName: Full=Class E basic helix-loop-helix protein 22;
DE            Short=bHLHe22;
DE   AltName: Full=Class B basic helix-loop-helix protein 5;
DE            Short=bHLHB5;
DE   AltName: Full=Trinucleotide repeat-containing gene 20 protein;
GN   Name=BHLHE22; Synonyms=BHLHB5, TNRC20;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND TISSUE SPECIFICITY.
RX   MEDLINE=22202148; PubMed=12213201; DOI=10.1006/geno.2002.6833;
RA   Xu Z.-P., Dutra A., Stellrecht C.M., Wu C., Piatigorsky J.,
RA   Saunders G.F.;
RT   "Functional and structural characterization of the human gene BHLHB5,
RT   encoding a basic helix-loop-helix transcription factor.";
RL   Genomics 80:311-318(2002).
RN   [2]
RP   IDENTIFICATION.
RX   MEDLINE=22879847; PubMed=14516699; DOI=10.1016/S0925-4773(03)00130-8;
RA   McLellan A.S., Langlands K., Kealey T.;
RT   "Exhaustive identification of human class II basic helix-loop-helix
RT   proteins by virtual library screening.";
RL   Mech. Dev. 119:S285-S291(2002).
CC   -!- FUNCTION: Inhibits DNA binding of TCF3/E47 homodimers and TCF3
CC       (E47)/NEUROD1 heterodimers and acts as a strong repressor of
CC       Neurod1 and Myod-responsive genes, probably by heterodimerization
CC       with class a basic helix-loop-helix factors. Despite the presence
CC       of an intact basic domain, does not bind to DNA (By similarity).
CC   -!- SUBCELLULAR LOCATION: Nucleus (Probable).
CC   -!- TISSUE SPECIFICITY: Brain-specific, with the highest expression in
CC       the cerebellum.
CC   -!- SIMILARITY: Contains 1 basic helix-loop-helix (bHLH) domain.
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DR   EMBL; AF504925; AAM28881.1; -; Genomic_DNA.
DR   EMBL; BK000273; DAA01053.1; -; mRNA.
DR   IPI; IPI00168844; -.
DR   RefSeq; NP_689627.1; -.
DR   UniGene; Hs.388788; -.
DR   UniGene; Hs.591870; -.
DR   STRING; Q8NFJ8; -.
DR   PRIDE; Q8NFJ8; -.
DR   Ensembl; ENST00000321870; ENSP00000318799; ENSG00000180828; Homo sapiens.
DR   GeneID; 27319; -.
DR   KEGG; hsa:27319; -.
DR   UCSC; uc003xvi.1; human.
DR   CTD; 27319; -.
DR   GeneCards; GC08P065656; -.
DR   H-InvDB; HIX0007544; -.
DR   HGNC; HGNC:11963; BHLHE22.
DR   PharmGKB; PA36650; -.
DR   HOVERGEN; Q8NFJ8; -.
DR   InParanoid; Q8NFJ8; -.
DR   OMA; MERGMHL; -.
DR   OrthoDB; EOG97WR7G; -.
DR   NextBio; 50328; -.
DR   ArrayExpress; Q8NFJ8; -.
DR   Bgee; Q8NFJ8; -.
DR   Genevestigator; Q8NFJ8; -.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0045449; P:regulation of transcription; IEA:UniProtKB-KW.
DR   GO; GO:0006350; P:transcription; IEA:UniProtKB-KW.
DR   InterPro; IPR001092; HLH_basic.
DR   InterPro; IPR011598; HLH_DNA_bd.
DR   Pfam; PF00010; HLH; 1.
DR   SMART; SM00353; HLH; 1.
DR   PROSITE; PS50888; HLH; 1.
PE   2: Evidence at transcript level;
KW   Complete proteome; Nucleus; Polymorphism; Repressor; Transcription;
KW   Transcription regulation.
FT   CHAIN         1    381       Class E basic helix-loop-helix protein
FT                                22.
FT                                /FTId=PRO_0000274285.
FT   DOMAIN      255    297       Helix-loop-helix motif.
FT   DNA_BIND    235    254       Basic motif.
FT   COMPBIAS     56     60       Poly-Ser.
FT   COMPBIAS     72    225       Gly-rich.
FT   COMPBIAS    208    234       Ser-rich.
FT   COMPBIAS    315    357       Ala-rich.
FT   VARIANT      28     28       S -> A (in dbSNP:rs7016250).
FT                                /FTId=VAR_061255.
SQ   SEQUENCE   381 AA;  36997 MW;  7B17A9BD5C7F8569 CRC64;
     MERGMHLGAA AAGEDDLFLH KSLSASTSKR LEAAFRSTPP GMDLSLAPPP RERPASSSSS
     PLGCFEPADP EGAGLLLPPP GGGGGGSAGS GGGGGGGVGV PGLLVGSAGV GGDPSLSSLP
     AGAALCLKYG ESASRGSVAE SSGGEQSPDD DSDGRCELVL RAGVADPRAS PGAGGGGAKA
     AEGCSNAHLH GGASVPPGGL GGGGGGGSSS GSSGGGGGSG SGSGGSSSSS SSSSKKSKEQ
     KALRLNINAR ERRRMHDLND ALDELRAVIP YAHSPSVRKL SKIATLLLAK NYILMQAQAL
     EEMRRLVAYL NQGQAISAAS LPSSAAAAAA AAALHPALGA YEQAAGYPFS AGLPPAASCP
     EKCALFNSVS SSLCKQCTEK P
//