BHE22_HUMAN
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 03-AUG-2022, entry version 136.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND TISSUE SPECIFICITY.
RX PubMed=12213201; DOI=10.1006/geno.2002.6833;
RA Xu Z.-P., Dutra A., Stellrecht C.M., Wu C., Piatigorsky J., 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 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 Neurod1
CC and Myod-responsive genes, probably by heterodimerization with class a
CC basic helix-loop-helix factors. Despite the presence of an intact basic
CC domain, does not bind to DNA (By similarity). In the brain, may
CC function as an area-specific transcription factor that regulates the
CC postmitotic acquisition of area identities and elucidate the genetic
CC hierarchy between progenitors and postmitotic neurons driving
CC neocortical arealization. May be required for the survival of a
CC specific population of inhibitory neurons in the superficial laminae of
CC the spinal cord dorsal horn that may regulate pruritis. Seems to play a
CC crucial role in the retinogenesis, in the specification of amacrine and
CC bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex
CC controlling genes involved in neural development and neuronal
CC differentiation. {ECO:0000250|UniProtKB:Q8C6A8}.
CC -!- SUBUNIT: Interacts with PRDM8. {ECO:0000250|UniProtKB:Q8C6A8}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Brain-specific, with the highest expression in the
CC cerebellum. {ECO:0000269|PubMed:12213201}.
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DR EMBL; AF504925; AAM28881.1; -; Genomic_DNA.
DR EMBL; BK000273; DAA01053.1; -; mRNA.
DR CCDS; CCDS6179.1; -.
DR RefSeq; NP_689627.1; NM_152414.4.
DR AlphaFoldDB; Q8NFJ8; -.
DR SMR; Q8NFJ8; -.
DR STRING; 9606.ENSP00000318799; -.
DR iPTMnet; Q8NFJ8; -.
DR PhosphoSitePlus; Q8NFJ8; -.
DR BioMuta; BHLHE22; -.
DR DMDM; 74751284; -.
DR MassIVE; Q8NFJ8; -.
DR PaxDb; Q8NFJ8; -.
DR PeptideAtlas; Q8NFJ8; -.
DR PRIDE; Q8NFJ8; -.
DR ProteomicsDB; 73318; -.
DR Antibodypedia; 11910; 158 antibodies from 26 providers.
DR DNASU; 27319; -.
DR Ensembl; ENST00000321870.3; ENSP00000318799.1; ENSG00000180828.3.
DR GeneID; 27319; -.
DR KEGG; hsa:27319; -.
DR MANE-Select; ENST00000321870.3; ENSP00000318799.1; NM_152414.5; NP_689627.1.
DR UCSC; uc003xvi.4; human.
DR CTD; 27319; -.
DR DisGeNET; 27319; -.
DR GeneCards; BHLHE22; -.
DR HGNC; HGNC:11963; BHLHE22.
DR HPA; ENSG00000180828; Tissue enriched (brain).
DR MIM; 613483; gene.
DR neXtProt; NX_Q8NFJ8; -.
DR OpenTargets; ENSG00000180828; -.
DR PharmGKB; PA36650; -.
DR VEuPathDB; HostDB:ENSG00000180828; -.
DR eggNOG; KOG3898; Eukaryota.
DR GeneTree; ENSGT00940000162962; -.
DR HOGENOM; CLU_070971_0_0_1; -.
DR InParanoid; Q8NFJ8; -.
DR OMA; SDGRCDM; -.
DR OrthoDB; 1617813at2759; -.
DR PhylomeDB; Q8NFJ8; -.
DR TreeFam; TF322733; -.
DR PathwayCommons; Q8NFJ8; -.
DR SignaLink; Q8NFJ8; -.
DR BioGRID-ORCS; 27319; 19 hits in 1086 CRISPR screens.
DR GenomeRNAi; 27319; -.
DR Pharos; Q8NFJ8; Tbio.
DR PRO; PR:Q8NFJ8; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q8NFJ8; protein.
DR Bgee; ENSG00000180828; Expressed in secondary oocyte and 143 other tissues.
DR Genevisible; Q8NFJ8; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR032654; Bhlhe22.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR PANTHER; PTHR19290:SF52; PTHR19290:SF52; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 2: Evidence at transcript level;
KW Neurogenesis; Nucleus; Reference proteome; Repressor; Transcription;
KW Transcription regulation.
FT CHAIN 1..381
FT /note="Class E basic helix-loop-helix protein 22"
FT /id="PRO_0000274285"
FT DOMAIN 242..296
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 30..94
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 135..154
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 188..242
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 206..236
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 28
FT /note="S -> A (in dbSNP:rs7016250)"
FT /id="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
