GGRNA | NM_024336.2

LOCUS       NM_024336               2308 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens iroquois homeobox 3 (IRX3), mRNA.
ACCESSION   NM_024336 XM_113857
VERSION     NM_024336.2  GI:226371734
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 2308)
  AUTHORS   Murea,M., Lu,L., Ma,L., Hicks,P.J., Divers,J., McDonough,C.W.,
            Langefeld,C.D., Bowden,D.W. and Freedman,B.I.
  TITLE     Genome-wide association scan for survival on dialysis in
            African-Americans with type 2 diabetes
  JOURNAL   Am. J. Nephrol. 33 (6), 502-509 (2011)
   PUBMED   21546767
REFERENCE   2  (bases 1 to 2308)
  AUTHORS   Ragvin,A., Moro,E., Fredman,D., Navratilova,P., Drivenes,O.,
            Engstrom,P.G., Alonso,M.E., de la Calle Mustienes,E., Gomez
            Skarmeta,J.L., Tavares,M.J., Casares,F., Manzanares,M., van
            Heyningen,V., Molven,A., Njolstad,P.R., Argenton,F., Lenhard,B. and
            Becker,T.S.
  TITLE     Long-range gene regulation links genomic type 2 diabetes and
            obesity risk regions to HHEX, SOX4, and IRX3
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 107 (2), 775-780 (2010)
   PUBMED   20080751
  REMARK    GeneRIF: IRX3 function may have a direct functional relationship to
            both obesity and type 2 diabetes.
            Erratum:[Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4264]
REFERENCE   3  (bases 1 to 2308)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2308)
  AUTHORS   Lewis,M.T., Ross,S., Strickland,P.A., Snyder,C.J. and Daniel,C.W.
  TITLE     Regulated expression patterns of IRX-2, an Iroquois-class homeobox
            gene, in the human breast
  JOURNAL   Cell Tissue Res. 296 (3), 549-554 (1999)
   PUBMED   10370142
REFERENCE   5  (bases 1 to 2308)
  AUTHORS   Bellefroid,E.J., Kobbe,A., Gruss,P., Pieler,T., Gurdon,J.B. and
            Papalopulu,N.
  TITLE     Xiro3 encodes a Xenopus homolog of the Drosophila Iroquois genes
            and functions in neural specification
  JOURNAL   EMBO J. 17 (1), 191-203 (1998)
   PUBMED   9427753
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY335943.1 and BC023667.2.
            On Apr 4, 2009 this sequence version replaced gi:39930458.
            
            Summary: IRX3 is a member of the Iroquois homeobox gene family (see
            IRX1; MIM 606197) and plays a role in an early step of neural
            development (Bellefroid et al., 1998 [PubMed 9427753]). Members of
            this family appear to play multiple roles during pattern formation
            of vertebrate embryos (Lewis et al., 1999 [PubMed
            10370142]).[supplied by OMIM, Aug 2009].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY335943.1, BC023667.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025083, ERS025085 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1079              AY335943.1         1-1079
            1080-1680           BC023667.2         1047-1647
            1681-2308           AY335943.1         1681-2308
FEATURES             Location/Qualifiers
     source          1..2308
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.2"
     gene            1..2308
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /note="iroquois homeobox 3"
                     /db_xref="GeneID:79191"
                     /db_xref="HGNC:14360"
                     /db_xref="MIM:612985"
     exon            1..683
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    15..17
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /note="upstream in-frame stop codon"
     variation       182
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3751723"
     variation       245..256
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /replace=""
                     /replace="cgtcgccgccgc"
                     /db_xref="dbSNP:3833834"
     variation       385
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1868691"
     CDS             417..1922
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /note="iroquois homeobox protein 3; iroquois-class
                     homeodomain protein IRX-1; homeodomain protein IRXB1"
                     /codon_start=1
                     /product="iroquois-class homeodomain protein IRX-3"
                     /protein_id="NP_077312.2"
                     /db_xref="GI:226371735"
                     /db_xref="CCDS:CCDS10750.1"
                     /db_xref="GeneID:79191"
                     /db_xref="HGNC:14360"
                     /db_xref="MIM:612985"
                     /translation="

MSFPQLGYQYIRPLYPSERPGAAGGSGGSAGARGGLGAGASELNASGSLSNVLSSVYGAPYAAAAAAAAAQGYGAFLPYAAELPIFPQLGAQYELKDSPGVQHPAAAAAFPHPHPAFYPYGQYQFGDPSRPKNATRESTSTLKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWAPRSRTDEEGNAYGSEREEEDEEEDEEDGKRELELEEEELGGEEEDTGGEGLADDDEDEEIDLENLDGAATEPELSLAGAARRDGDLGLGPISDSKNSDSEDSSEGLEDRPLPVLSLAPAPPPVAVASPSLPSPPVSLDPCAPAPAPASALQKPKIWSLAETATSPDNPRRSPPGAGGSPPGAAVAPSALQLSPAAAAAAAHRLVSAPLGKFPAWTNRPFPGPPPGPRLHPLSLLGSAPPHLLGLPGAAGHPAAAAAFARPAEPEGGTDRCSALEVEKKLLKTAFQPVPRRPQNHLDAALVLSALSSS

"
     misc_feature    819..983
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /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(876..878,894..896,933..935,939..944,951..956,
                     960..968,972..977)
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(942..944,951..956,963..965)
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    1446..1493
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /note="Motif in Iroquois-class homeodomain proteins
                     (only). Unknown function; Region: IRO; smart00548"
                     /db_xref="CDD:128821"
     exon            684..1800
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /inference="alignment:Splign:1.39.8"
     STS             854..918
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /standard_name="Irx3"
                     /db_xref="UniSTS:498475"
     STS             966..1045
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /standard_name="Irx3"
                     /db_xref="UniSTS:532300"
     variation       1681
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1450355"
     exon            1801..1867
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /inference="alignment:Splign:1.39.8"
     variation       1853
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1126960"
     exon            1868..2308
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /inference="alignment:Splign:1.39.8"
     STS             2032..2186
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /standard_name="SHGC-61146"
                     /db_xref="UniSTS:59616"
     variation       2111
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1042899"
     variation       2261
                     /gene="IRX3"
                     /gene_synonym="IRX-1; IRXB1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2278810"
ORIGIN

gcgaggagggggagtgaaaactagaggagggcgaaggaagcgaggcgcgacactgctggggagaggagggcagtgaggagcgaggagcgggcagaggcagctccggcggccgagaggagggagcgcggcgcagagaggaggggcttgcgccccgtagaaatgtcaatcagagcccggagccccgggaatctccgccaatctgttcggacctgacctggctcctcgccgccgccctcgccgccgccgtcgccgccgcggagcagatcaataggcgaacgcggagcacagcgcagcgcgggcggcagcgcggccccaagcccggcccagcccccgatgcgcgccggagcccgcgggcggcgctgagctgggcggcccgggggtcggcccccctctccgtccgtgccccgcgggccaccatgtccttcccccagctgggataccaatacatccgcccgctttacccgtccgagcgcccgggggccgctggcggcagcggcggcagcgcgggggcccggggcggcctgggtgccggagcctcggagctgaacgcctcggggtccctgtccaacgtgctctcgtccgtgtacggggcgccctacgccgcggccgctgcggccgccgccgcccaaggctacggcgccttcctgccctacgccgcggagctgcccatcttcccgcagctgggcgcgcagtatgagctgaaggacagccccggggtgcagcatccggccgcggctgccgcgtttccgcacccgcaccccgccttctacccgtatggccagtaccagttcggggacccgtcccgtcccaagaacgccaccagggagagcaccagcacgctgaaggcctggctcaacgagcaccgcaagaacccctaccccaccaagggcgagaagatcatgctggccatcatcaccaagatgaccctcacccaggtgtccacctggttcgccaacgcgcgccggcgcctcaagaaggagaataagatgacttgggcgcctcgcagccgcactgacgaggagggaaacgcttatgggagcgagcgcgaggaggaagacgaagaggaggacgaggaggacggcaaacgcgagctagagctggaggaggaggagctcgggggggaggaggaggacacggggggcgagggcctggctgacgacgacgaggacgaggagatcgatttggagaacttagacggcgcggccaccgagcctgagctgtccctggctggggcggcgcgcagggatggcgacctaggcctgggacccatttcggactccaaaaatagcgactcggaagatagctctgagggcttagaggaccggccactaccggtcctgagtctggctccagcgccaccaccagtggccgtggcctcgccgtctctgccgtcgccccccgtgagcctggacccctgcgctcccgcaccagcccccgcctccgccctgcagaagcccaagatctggtccctcgcggagactgccacaagcccggacaacccgcgccgctcgcctcccggcgcgggggggtctccaccgggggcagcggtcgcgccttccgccctgcagctctctccggccgccgccgccgccgccgctcacagactggtctcagcgccgctgggcaagttcccggcttggaccaaccggccgtttccaggcccaccgcccggcccccgcctgcacccgctctccctgctgggctctgcccctccgcacctgctgggacttcccggagccgcgggccacccggctgccgccgccgccttcgctcggccagcggagcccgaaggcggaacagatcgctgtagtgccttggaagtggagaaaaagttactcaagacagctttccagcccgtgcccaggcggccccagaaccatctggacgccgccctggtcttatcggctctctcctcatcctagttctttaaaaaaaacaaaaaaacaaaaaaaactttttttaatcgttgtaataattgtataaaaaaaatcgctctgtatagttacaacttgtaagcatgtccgtgtataaatacctaaaagcaaaactaaacaaagaaagtaagaaaaagaaataaaaccagtcctcctcagccctccccaagtcgcttctgtggcaccccgcattcgctgtgaggtttgtttgtccggttgattttggggggtggagtttcagtgagaataaacgtgtctgcctttgtgtgtgtgtatatatacagagaaatgtacatatgtgtgaaccaaattgtacgagaaagtatctatttttggctaaataaatgagctgctgccactttgactataacccg

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