GGRNA | NM_145657.1

LOCUS       NM_145657                847 bp    mRNA    linear   PRI 18-APR-2013
DEFINITION  Homo sapiens GS homeobox 1 (GSX1), mRNA.
ACCESSION   NM_145657
VERSION     NM_145657.1  GI:33457325
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 847)
  AUTHORS   Uzumcu,A., Karaman,B., Toksoy,G., Uyguner,Z.O., Candan,S., Eris,H.,
            Tatli,B., Geckinli,B., Yuksel,A., Kayserili,H. and Basaran,S.
  TITLE     Molecular genetic screening of MBS1 locus on chromosome 13 for
            microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative
            genes in patients with Moebius syndrome
  JOURNAL   Eur J Med Genet 52 (5), 315-320 (2009)
   PUBMED   19460469
  REMARK    GeneRIF: the study ruled out microdeletions on the critical region
            as a common cause of Moebius syndrome and excluded GSH1 gene
REFERENCE   2  (bases 1 to 847)
  AUTHORS   Anney,R.J., Lasky-Su,J., O'Dushlaine,C., Kenny,E., Neale,B.M.,
            Mulligan,A., Franke,B., Zhou,K., Chen,W., Christiansen,H.,
            Arias-Vasquez,A., Banaschewski,T., Buitelaar,J., Ebstein,R.,
            Miranda,A., Mulas,F., Oades,R.D., Roeyers,H., Rothenberger,A.,
            Sergeant,J., Sonuga-Barke,E., Steinhausen,H., Asherson,P.,
            Faraone,S.V. and Gill,M.
  TITLE     Conduct disorder and ADHD: evaluation of conduct problems as a
            categorical and quantitative trait in the international multicentre
            ADHD genetics study
  JOURNAL   Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B (8), 1369-1378
            (2008)
   PUBMED   18951430
REFERENCE   3  (bases 1 to 847)
  AUTHORS   Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
            Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
            Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
            Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
            Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
            Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
            Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
            Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
            Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
            French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
            Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
            Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
            Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
            Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
            Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
            McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
            Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
            Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
            Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
            Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
            Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   4  (bases 1 to 847)
  AUTHORS   Mutsuga,N., Iwasaki,Y., Morishita,M., Nomura,A., Yamamori,E.,
            Yoshida,M., Asai,M., Ozaki,N., Kambe,F., Seo,H., Oiso,Y. and
            Saito,H.
  TITLE     Homeobox protein Gsh-1-dependent regulation of the rat GHRH gene
            promoter
  JOURNAL   Mol. Endocrinol. 15 (12), 2149-2156 (2001)
   PUBMED   11731616
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AB044157.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB044157.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..847
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.2"
     gene            1..847
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /note="GS homeobox 1"
                     /db_xref="GeneID:219409"
                     /db_xref="HGNC:20374"
                     /db_xref="HPRD:11016"
     exon            1..460
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /inference="alignment:Splign:1.39.8"
     STS             8..847
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /db_xref="UniSTS:483541"
     CDS             49..843
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /note="homeobox protein Gsh-1; GS homeo box protein 1;
                     genomic screened homeo box 1"
                     /codon_start=1
                     /product="GS homeobox 1"
                     /protein_id="NP_663632.1"
                     /db_xref="GI:33457326"
                     /db_xref="CCDS:CCDS9326.1"
                     /db_xref="GeneID:219409"
                     /db_xref="HGNC:20374"
                     /db_xref="HPRD:11016"
                     /translation="

MPRSFLVDSLVLREAGEKKAPEGSPPPLFPYAVPPPHALHGLSPGACHARKAGLLCVCPLCVTASQLHGPPGPPALPLLKASFPPFGSQYCHAPLGRQHSAVSPGVAHGPAAAAAAAALYQTSYPLPDPRQFHCISVDSSSNQLPSSKRMRTAFTSTQLLELEREFASNMYLSRLRRIEIATYLNLSEKQVKIWFQNRRVKHKKEGKGSNHRGGGGGGAGGGGSAPQGCKCASLSSAKCSEDDDELPMSPSSSGKDDRDLTVTP

"
     misc_feature    49..108
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H4S2.1);
                     Region: SNAG domain (By similarity)"
     misc_feature    490..666
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /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(490..504,508..510,559..561,577..579,616..618,
                     622..627,634..639,643..651,655..660)
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(496..498,505..507,625..627,634..639,646..648)
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       282
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1231058"
     variation       360
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:116827208"
     exon            461..847
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /inference="alignment:Splign:1.39.8"
     variation       463
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:150243944"
     variation       539
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367810809"
     variation       565
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:371989788"
     variation       573
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146889423"
     variation       588
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115980353"
     variation       597
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376776365"
     variation       678
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201389990"
     variation       699
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372404864"
     variation       714
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3742111"
     variation       715
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371360518"
     variation       748
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200388174"
     variation       800
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375665681"
     variation       807
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138515715"
     variation       822
                     /gene="GSX1"
                     /gene_synonym="Gsh-1; GSH1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:189831013"
ORIGIN

gtgggcgcagagggcgggctggctgcggggcgaccgcgcgccggggccatgccgcgctccttcctggtggactcgctagtgctgcgcgaggcgggcgagaagaaggcgcccgagggcagcccgccgccgctcttcccctacgctgtgcccccgccgcacgcgctgcacggtctctcgcctggcgcctgccacgcgcgcaaggctgggctgctgtgcgtgtgcccgctctgcgtcaccgcctcgcagctgcatgggccccccgggccgcccgcgctgcctctgctcaaggcttccttcccacccttcggctcgcagtactgccacgcgcccctgggccgccagcactctgctgtgtcgcccggggtcgctcacggcccggccgccgctgctgctgccgccgcgctctaccagacctcctacccgctgcctgaccccaggcagttccactgcatctctgtggacagcagctctaaccagctgcccagcagcaagaggatgcgcacggctttcaccagcacgcagctgctagagctggagcgcgagttcgcttctaatatgtacctgtcccgcctacgtcgcatcgagatcgcgacctacctgaatctgtccgagaagcaggtgaagatctggtttcagaaccgccgagtgaagcacaagaaggagggcaagggcagcaaccatcgtggcggcggcggcgggggtgccggtggtggcgggagcgcaccgcaaggctgcaagtgcgcatcgctctcctcagccaagtgctccgaggatgacgacgaattgcccatgtctccgtcctcctcagggaaggacgaccgggatcttacggtcactccctaggcgc

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