LOCUS       NM_001098834            1324 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.
ACCESSION   NM_001098834
VERSION     NM_001098834.1  GI:149588929
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 1324)
  AUTHORS   Huntriss,J., Hinkins,M. and Picton,H.M.
  TITLE     cDNA cloning and expression of the human NOBOX gene in oocytes and
            ovarian follicles
  JOURNAL   Mol. Hum. Reprod. 12 (5), 283-289 (2006)
   PUBMED   16597639
  REMARK    GeneRIF: Study reveals the preferential expression of GBX1 by
            germinal vesicle (GV) oocytes.
REFERENCE   2  (bases 1 to 1324)
  AUTHORS   Matsui,T., Hirai,M., Hirano,M. and Kurosawa,Y.
  TITLE     The HOX complex neighbored by the EVX gene, as well as two other
            homeobox-containing genes, the GBX-class and the EN-class, are
            located on the same chromosomes 2 and 7 in humans
  JOURNAL   FEBS Lett. 336 (1), 107-110 (1993)
   PUBMED   7903253
REFERENCE   3  (bases 1 to 1324)
  AUTHORS   Matsui,T., Hirai,M., Wakita,M., Hirano,M. and Kurosawa,Y.
  TITLE     Expression of a novel human homeobox-containing gene that maps to
            chromosome 7q36.1 in hematopoietic cells
  JOURNAL   FEBS Lett. 322 (2), 181-185 (1993)
   PUBMED   8097731
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC010973.6.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns ERS025088
                              [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-770               AC010973.6         37915-38684
            771-1324            AC010973.6         56553-57106
FEATURES             Location/Qualifiers
     source          1..1324
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..1324
                     /gene="GBX1"
                     /note="gastrulation brain homeobox 1"
                     /db_xref="GeneID:2636"
                     /db_xref="HGNC:4185"
                     /db_xref="MIM:603354"
     exon            1..770
                     /gene="GBX1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    2..4
                     /gene="GBX1"
                     /note="upstream in-frame stop codon"
     CDS             233..1324
                     /gene="GBX1"
                     /note="gastrulation brain homeo box 1; gastrulation and
                     brain-specific homeobox protein 1"
                     /codon_start=1
                     /product="homeobox protein GBX-1"
                     /protein_id="NP_001092304.1"
                     /db_xref="GI:149588930"
                     /db_xref="CCDS:CCDS43682.1"
                     /db_xref="GeneID:2636"
                     /db_xref="HGNC:4185"
                     /db_xref="MIM:603354"
                     /translation="

MQRAGGGSAPGGNGGGGGGGPGTAFSIDSLIGPPPPRSGHLLYTGYPMFMPYRPLVLPQALAPAPLPAGLPPLAPLASFAGRLTNTFCAGLGQAVPSMVALTTALPSFAEPPDAFYGPQELAAAAAAAAATAARNNPEPGGRRPEGGLEADELLPAREKVAEPPPPPPPHFSETFPSLPAEGKVYSSDEEKLEASAGDPAGSEQEEEGSGGDSEDDGFLDSSAGGPGALLGPKPKLKGSLGTGAEEGAPVTAGVTAPGGKSRRRRTAFTSEQLLELEKEFHCKKYLSLTERSQIAHALKLSEVQVKIWFQNRRAKWKRIKAGNVSSRSGEPVRNPKIVVPIPVHVNRFAVRSQHQQMEQGARP

"
     misc_feature    1016..1192
                     /gene="GBX1"
                     /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(1016..1030,1034..1036,1085..1087,1103..1105,
                     1142..1144,1148..1153,1160..1165,1169..1177,1181..1186)
                     /gene="GBX1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(1022..1024,1031..1033,1151..1153,1160..1165,
                     1172..1174)
                     /gene="GBX1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       complement(325)
                     /gene="GBX1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:13242341"
     variation       complement(628)
                     /gene="GBX1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:13241978"
     variation       complement(634)
                     /gene="GBX1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:193195002"
     variation       complement(671)
                     /gene="GBX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377469765"
     variation       complement(683)
                     /gene="GBX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200545413"
     variation       complement(689)
                     /gene="GBX1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201650225"
     variation       complement(696)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370046549"
     variation       complement(751)
                     /gene="GBX1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201756310"
     variation       complement(764)
                     /gene="GBX1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:372158178"
     variation       complement(768)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369810012"
     variation       complement(769)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375522842"
     exon            771..1324
                     /gene="GBX1"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(812)
                     /gene="GBX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11975799"
     variation       complement(828)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367624740"
     variation       complement(895)
                     /gene="GBX1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:192479027"
     variation       complement(917)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200119934"
     variation       complement(933)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375529208"
     variation       complement(937)
                     /gene="GBX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370970805"
     variation       complement(942)
                     /gene="GBX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:6970768"
     variation       complement(978)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201395169"
     variation       complement(990)
                     /gene="GBX1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:374261532"
     variation       complement(1023)
                     /gene="GBX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200333232"
     variation       complement(1088)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200785319"
     variation       complement(1114)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201417319"
     variation       complement(1121)
                     /gene="GBX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200609477"
     variation       complement(1147)
                     /gene="GBX1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:75176255"
     variation       complement(1168)
                     /gene="GBX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373562908"
     variation       complement(1184)
                     /gene="GBX1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368877994"
     variation       complement(1204)
                     /gene="GBX1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:376045645"
     variation       complement(1212)
                     /gene="GBX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199515474"
     variation       complement(1278)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201566761"
     variation       complement(1283)
                     /gene="GBX1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202046564"
     variation       complement(1317)
                     /gene="GBX1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376566770"
ORIGIN      

atgagtccggagggcgacacccccagcccgcctgctcgcccgccccctccctccttatgagagagagggagcgcggcgccggagccacactgcgccgagcccgcgccccgccgccacctcggcccgggagccagggagcgagccctgcgtgtccgcgcggggcgcccgagccgcggggcgcacggaggcgcccagagaggagcgccccggggcggccgcagctccgaacaagatgcagcgggccggaggcggtagcgcccctgggggcaacggcgggggcggcggcgggggcccgggcactgccttctccatcgactccctaatcgggccgccgccgccgcgctccggccacttgctgtacaccggctaccccatgttcatgccctaccggccgctcgtgctgccgcaggcgctggcccctgcgccgctgcccgctggcctcccgcccctcgccccgctagcctctttcgccggccgccttaccaacaccttctgcgcggggctgggtcaggctgtgccctcgatggtggcgctgaccaccgcgctgcccagcttcgcggagccgcccgacgctttctacgggccccaggagctcgccgccgccgctgccgccgccgccgccactgccgcccgaaacaaccccgagccaggcggccgacgcccagagggtgggctggaagctgatgagctgctgccggcccgggagaaagtggcagagcccccaccacctccgcctccgcacttctcagagacttttccaagtctgcccgcagaggggaaggtgtacagctcagatgaggagaagctggaggcatcagcaggagacccagcaggcagcgaacaggaggaagagggctcaggcggtgacagcgaggatgacggtttcctggacagttctgcagggggcccaggggctcttctgggacctaaaccgaagctaaagggaagcctggggactggagctgaggagggggcaccggtgacagcaggggtcacagctcctggggggaaaagccgacggcgccgcacagcatttaccagcgagcagcttttggaattggagaaggaatttcattgcaagaaatacctgagcttgacagagcgctctcagatcgcccacgccctcaagctcagtgaggtgcaggtcaagatctggtttcagaatcgacgggccaagtggaagcgcatcaaagctggcaatgtgagcagccgttctggggagcccgtaagaaaccccaagattgttgtccccatacctgtgcatgtcaacaggtttgctgtgcggagccagcaccaacaaatggagcagggggcccggccctga

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:2636 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS
            GeneID:2636 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:2636 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:2636 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: NAS
            GeneID:2636 -> Cellular component: GO:0000228 [nuclear chromosome] evidence: NAS