BSH_HUMAN
ID BSH_HUMAN Reviewed; 233 AA.
AC Q3C1V8;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-AUG-2007, sequence version 2.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Brain-specific homeobox protein homolog;
GN Name=BSX; Synonyms=BSX1;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 16-93.
RA Totoki Y., Yada T., Sakaki Y., Takeda T.;
RT "Identification of novel human genes predicted by combining multiple gene
RT finders.";
RL Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: DNA binding protein that function as transcriptional
CC activator. Is essential for normal postnatal growth and nursing. Is an
CC essential factor for neuronal neuropeptide Y and agouti-related peptide
CC function and locomotory behavior in the control of energy balance (By
CC similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q810B3}.
CC -!- SIMILARITY: Belongs to the distal-less homeobox family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=Of fidgets and food - Issue
CC 85 of August 2007;
CC URL="https://web.expasy.org/spotlight/back_issues/085";
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DR EMBL; AP003040; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB231738; BAE46889.1; -; mRNA.
DR CCDS; CCDS41728.1; -.
DR RefSeq; NP_001091639.1; NM_001098169.1.
DR AlphaFoldDB; Q3C1V8; -.
DR SMR; Q3C1V8; -.
DR BioGRID; 133475; 1.
DR IntAct; Q3C1V8; 1.
DR STRING; 9606.ENSP00000344285; -.
DR iPTMnet; Q3C1V8; -.
DR PhosphoSitePlus; Q3C1V8; -.
DR BioMuta; BSX; -.
DR DMDM; 156630463; -.
DR jPOST; Q3C1V8; -.
DR MassIVE; Q3C1V8; -.
DR PaxDb; Q3C1V8; -.
DR PeptideAtlas; Q3C1V8; -.
DR PRIDE; Q3C1V8; -.
DR ProteomicsDB; 61684; -.
DR Antibodypedia; 9208; 105 antibodies from 19 providers.
DR DNASU; 390259; -.
DR Ensembl; ENST00000343035.3; ENSP00000344285.2; ENSG00000188909.5.
DR GeneID; 390259; -.
DR KEGG; hsa:390259; -.
DR MANE-Select; ENST00000343035.3; ENSP00000344285.2; NM_001098169.2; NP_001091639.1.
DR UCSC; uc010rzs.3; human.
DR CTD; 390259; -.
DR DisGeNET; 390259; -.
DR GeneCards; BSX; -.
DR HGNC; HGNC:20450; BSX.
DR HPA; ENSG00000188909; Tissue enriched (brain).
DR MIM; 611074; gene.
DR neXtProt; NX_Q3C1V8; -.
DR OpenTargets; ENSG00000188909; -.
DR PharmGKB; PA162377618; -.
DR VEuPathDB; HostDB:ENSG00000188909; -.
DR eggNOG; KOG0491; Eukaryota.
DR GeneTree; ENSGT00940000161473; -.
DR HOGENOM; CLU_104234_0_0_1; -.
DR InParanoid; Q3C1V8; -.
DR OMA; DLPGKHC; -.
DR OrthoDB; 1572711at2759; -.
DR PhylomeDB; Q3C1V8; -.
DR TreeFam; TF350735; -.
DR PathwayCommons; Q3C1V8; -.
DR SignaLink; Q3C1V8; -.
DR BioGRID-ORCS; 390259; 11 hits in 1090 CRISPR screens.
DR ChiTaRS; BSX; human.
DR GenomeRNAi; 390259; -.
DR Pharos; Q3C1V8; Tbio.
DR PRO; PR:Q3C1V8; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q3C1V8; protein.
DR Bgee; ENSG00000188909; Expressed in hypothalamus.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
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:0042755; P:eating behavior; IEA:Ensembl.
DR GO; GO:0007626; P:locomotory behavior; IEA:Ensembl.
DR GO; GO:0060056; P:mammary gland involution; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 2: Evidence at transcript level;
KW Activator; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..233
FT /note="Brain-specific homeobox protein homolog"
FT /id="PRO_0000299170"
FT DNA_BIND 110..169
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 160..233
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 55
FT /note="G -> S (in Ref. 2; BAE46889)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 233 AA; 25933 MW; D11ECA435986FA1C CRC64;
MNLNFTSPLH PASSQRPTSF FIEDILLHKP KPLREVAPDH FASSLASRVP LLDYGYPLMP
TPTLLAPHAH HPLHKGDHHH PYFLTTSGMP VPALFPHPQH AELPGKHCRR RKARTVFSDS
QLSGLEKRFE IQRYLSTPER VELATALSLS ETQVKTWFQN RRMKHKKQLR KSQDEPKAPD
GPESPEGSPR GSEAATAAEA RLSLPAGPFV LTEPEDEVDI GDEGELGSGP HVL
