2024-03-29 18:12:42, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001098169 702 bp mRNA linear PRI 06-JAN-2013 DEFINITION Homo sapiens brain-specific homeobox (BSX), mRNA. ACCESSION NM_001098169 XM_372433 XM_939530 VERSION NM_001098169.1 GI:147901461 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 702) AUTHORS Elks,C.E., Perry,J.R., Sulem,P., Chasman,D.I., Franceschini,N., He,C., Lunetta,K.L., Visser,J.A., Byrne,E.M., Cousminer,D.L., Gudbjartsson,D.F., Esko,T., Feenstra,B., Hottenga,J.J., Koller,D.L., Kutalik,Z., Lin,P., Mangino,M., Marongiu,M., McArdle,P.F., Smith,A.V., Stolk,L., van Wingerden,S.H., Zhao,J.H., Albrecht,E., Corre,T., Ingelsson,E., Hayward,C., Magnusson,P.K., Smith,E.N., Ulivi,S., Warrington,N.M., Zgaga,L., Alavere,H., Amin,N., Aspelund,T., Bandinelli,S., Barroso,I., Berenson,G.S., Bergmann,S., Blackburn,H., Boerwinkle,E., Buring,J.E., Busonero,F., Campbell,H., Chanock,S.J., Chen,W., Cornelis,M.C., Couper,D., Coviello,A.D., d'Adamo,P., de Faire,U., de Geus,E.J., Deloukas,P., Doring,A., Smith,G.D., Easton,D.F., Eiriksdottir,G., Emilsson,V., Eriksson,J., Ferrucci,L., Folsom,A.R., Foroud,T., Garcia,M., Gasparini,P., Geller,F., Gieger,C., Gudnason,V., Hall,P., Hankinson,S.E., Ferreli,L., Heath,A.C., Hernandez,D.G., Hofman,A., Hu,F.B., Illig,T., Jarvelin,M.R., Johnson,A.D., Karasik,D., Khaw,K.T., Kiel,D.P., Kilpelainen,T.O., Kolcic,I., Kraft,P., Launer,L.J., Laven,J.S., Li,S., Liu,J., Levy,D., Martin,N.G., McArdle,W.L., Melbye,M., Mooser,V., Murray,J.C., Murray,S.S., Nalls,M.A., Navarro,P., Nelis,M., Ness,A.R., Northstone,K., Oostra,B.A., Peacock,M., Palmer,L.J., Palotie,A., Pare,G., Parker,A.N., Pedersen,N.L., Peltonen,L., Pennell,C.E., Pharoah,P., Polasek,O., Plump,A.S., Pouta,A., Porcu,E., Rafnar,T., Rice,J.P., Ring,S.M., Rivadeneira,F., Rudan,I., Sala,C., Salomaa,V., Sanna,S., Schlessinger,D., Schork,N.J., Scuteri,A., Segre,A.V., Shuldiner,A.R., Soranzo,N., Sovio,U., Srinivasan,S.R., Strachan,D.P., Tammesoo,M.L., Tikkanen,E., Toniolo,D., Tsui,K., Tryggvadottir,L., Tyrer,J., Uda,M., van Dam,R.M., van Meurs,J.B., Vollenweider,P., Waeber,G., Wareham,N.J., Waterworth,D.M., Weedon,M.N., Wichmann,H.E., Willemsen,G., Wilson,J.F., Wright,A.F., Young,L., Zhai,G., Zhuang,W.V., Bierut,L.J., Boomsma,D.I., Boyd,H.A., Crisponi,L., Demerath,E.W., van Duijn,C.M., Econs,M.J., Harris,T.B., Hunter,D.J., Loos,R.J., Metspalu,A., Montgomery,G.W., Ridker,P.M., Spector,T.D., Streeten,E.A., Stefansson,K., Thorsteinsdottir,U., Uitterlinden,A.G., Widen,E., Murabito,J.M., Ong,K.K. and Murray,A. CONSRTM GIANT Consortium TITLE Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies JOURNAL Nat. Genet. 42 (12), 1077-1085 (2010) PUBMED 21102462 REFERENCE 2 (bases 1 to 702) AUTHORS Coldren,C.D., Lai,Z., Shragg,P., Rossi,E., Glidewell,S.C., Zuffardi,O., Mattina,T., Ivy,D.D., Curfs,L.M., Mattson,S.N., Riley,E.P., Treier,M. and Grossfeld,P.D. TITLE Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome) JOURNAL Neurogenetics 10 (2), 89-95 (2009) PUBMED 18855024 REMARK GeneRIF: Data suggest that BSX is essential for global cognitive function and that haplo-insufficiency may cause severe mental retardation, and that deletion of Neurogranin REFERENCE 3 (bases 1 to 702) AUTHORS Chu,H.Y. and Ohtoshi,A. TITLE Cloning and functional analysis of hypothalamic homeobox gene Bsx1a and its isoform, Bsx1b JOURNAL Mol. Cell. Biol. 27 (10), 3743-3749 (2007) PUBMED 17353277 REFERENCE 4 (bases 1 to 702) AUTHORS Cremona,M., Colombo,E., Andreazzoli,M., Cossu,G. and Broccoli,V. TITLE Bsx, an evolutionary conserved Brain Specific homeoboX gene expressed in the septum, epiphysis, mammillary bodies and arcuate nucleus JOURNAL Gene Expr. Patterns 4 (1), 47-51 (2004) PUBMED 14678827 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AP003040.2 and AB231738.1. On or before May 23, 2007 this sequence version replaced gi:51468681, gi:89035198. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-43 AP003040.2 36843-36885 c 44-162 AB231738.1 1-119 163-163 AP003040.2 36723-36723 c 164-280 AB231738.1 121-237 281-459 AP003040.2 34475-34653 c 460-702 AP003040.2 32863-33105 c FEATURES Location/Qualifiers source 1..702 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11q24.1" gene 1..702 /gene="BSX" /gene_synonym="BSX1" /note="brain-specific homeobox" /db_xref="GeneID:390259" /db_xref="HGNC:20450" /db_xref="MIM:611074" CDS 1..702 /gene="BSX" /gene_synonym="BSX1" /note="brain specific homeobox" /codon_start=1 /product="brain-specific homeobox protein homolog" /protein_id="NP_001091639.1" /db_xref="GI:147901462" /db_xref="CCDS:CCDS41728.1" /db_xref="GeneID:390259" /db_xref="HGNC:20450" /db_xref="MIM:611074" /translation="
MNLNFTSPLHPASSQRPTSFFIEDILLHKPKPLREVAPDHFASSLASRVPLLDYGYPLMPTPTLLAPHAHHPLHKGDHHHPYFLTTSGMPVPALFPHPQHAELPGKHCRRRKARTVFSDSQLSGLEKRFEIQRYLSTPERVELATALSLSETQVKTWFQNRRMKHKKQLRKSQDEPKAPDGPESPEGSPRGSEAATAAEARLSLPAGPFVLTEPEDEVDIGDEGELGSGPHVL
" misc_feature 331..504 /gene="BSX" /gene_synonym="BSX1" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(331..345,349..351,400..402,418..420,457..459, 463..468,475..480,484..492,496..501) /gene="BSX" /gene_synonym="BSX1" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(337..339,346..348,466..468,475..480,487..489) /gene="BSX" /gene_synonym="BSX1" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" exon 1..262 /gene="BSX" /gene_synonym="BSX1" /inference="alignment:Splign:1.39.8" variation complement(31) /gene="BSX" /gene_synonym="BSX1" /replace="c" /replace="g" /db_xref="dbSNP:62624971" variation complement(76) /gene="BSX" /gene_synonym="BSX1" /replace="c" /replace="t" /db_xref="dbSNP:377550796" variation complement(125) /gene="BSX" /gene_synonym="BSX1" /replace="c" /replace="t" /db_xref="dbSNP:373485666" variation complement(132) /gene="BSX" /gene_synonym="BSX1" /replace="c" /replace="t" /db_xref="dbSNP:369116040" variation complement(156) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="g" /db_xref="dbSNP:370532557" variation complement(168) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="c" /db_xref="dbSNP:200026871" variation complement(196) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="g" /db_xref="dbSNP:199643758" variation complement(204) /gene="BSX" /gene_synonym="BSX1" /replace="c" /replace="t" /db_xref="dbSNP:372663917" variation complement(261) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="g" /db_xref="dbSNP:370019336" exon 263..459 /gene="BSX" /gene_synonym="BSX1" /inference="alignment:Splign:1.39.8" variation complement(279) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="g" /db_xref="dbSNP:183282025" variation complement(294) /gene="BSX" /gene_synonym="BSX1" /replace="g" /replace="t" /db_xref="dbSNP:369683033" variation complement(315) /gene="BSX" /gene_synonym="BSX1" /replace="c" /replace="g" /db_xref="dbSNP:375178523" variation complement(319) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="c" /db_xref="dbSNP:371977061" variation complement(353) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="c" /db_xref="dbSNP:368119965" variation complement(355) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="g" /db_xref="dbSNP:375774927" variation complement(391) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="g" /db_xref="dbSNP:368494973" variation complement(450) /gene="BSX" /gene_synonym="BSX1" /replace="c" /replace="t" /db_xref="dbSNP:190227799" variation complement(456) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="g" /db_xref="dbSNP:371265047" exon 460..702 /gene="BSX" /gene_synonym="BSX1" /inference="alignment:Splign:1.39.8" variation complement(468) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="g" /db_xref="dbSNP:375870565" variation complement(469) /gene="BSX" /gene_synonym="BSX1" /replace="c" /replace="t" /db_xref="dbSNP:375711614" variation complement(518) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="c" /db_xref="dbSNP:201802674" variation complement(540) /gene="BSX" /gene_synonym="BSX1" /replace="c" /replace="t" /db_xref="dbSNP:138024906" variation complement(548) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="g" /db_xref="dbSNP:373020747" variation complement(586) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="c" /db_xref="dbSNP:11601189" variation complement(608) /gene="BSX" /gene_synonym="BSX1" /replace="g" /replace="t" /db_xref="dbSNP:199952953" variation complement(690) /gene="BSX" /gene_synonym="BSX1" /replace="g" /replace="t" /db_xref="dbSNP:61737276" variation complement(693) /gene="BSX" /gene_synonym="BSX1" /replace="a" /replace="c" /db_xref="dbSNP:61737277" variation complement(694) /gene="BSX" /gene_synonym="BSX1" /replace="c" /replace="g" /db_xref="dbSNP:199711565" ORIGIN
atgaatctcaacttcacctctcctctacacccggcgtcttctcagaggcccacatccttcttcatcgaggacatcctgctgcacaagcccaagccgctgagagaggtggccccagaccatttcgccagctctctggcctctcgggtgcctctgctagactatggctaccccctcatgcccacacccaccctcttggctcctcacgcccatcaccctctgcataagggagaccaccatcatccttatttcctcaccacctcggggatgccagtcccagcgctgttcccgcacccgcagcacgcggagctgccggggaagcactgccgccgccgcaaagcccgcacggttttctctgactcgcagctctcgggcttggagaagaggttcgagatccagcgctacctgtccacgccagaacgagtggagctggccacggccctcagcctgtccgagacgcaggtgaaaacgtggttccagaaccggcggatgaagcataaaaagcaactgcggaaaagccaagacgaacccaaagcaccagacgggccagaaagccccgagggcagcccccgcggttcagaggccgccaccgccgccgaggctcggctgagcctgcccgccggtcccttcgtgctgaccgagccagaggacgaggtggacattggagacgagggggagctgggctcagggccgcacgtgctctga
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:390259 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:390259 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:390259 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:390259 -> Biological process: GO:0007626 [locomotory behavior] evidence: IEA GeneID:390259 -> Biological process: GO:0042755 [eating behavior] evidence: IEA GeneID:390259 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:390259 -> Biological process: GO:0060056 [mammary gland involution] evidence: IEA GeneID:390259 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:390259 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA GeneID:390259 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
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