2025-05-09 19:07:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024337 1858 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens iroquois homeobox 1 (IRX1), mRNA. ACCESSION NM_024337 XM_098320 VERSION NM_024337.3 GI:51479176 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 1858) AUTHORS Ovsyannikova,I.G., Kennedy,R.B., O'Byrne,M., Jacobson,R.M., Pankratz,V.S. and Poland,G.A. TITLE Genome-wide association study of antibody response to smallpox vaccine JOURNAL Vaccine 30 (28), 4182-4189 (2012) PUBMED 22542470 REFERENCE 2 (bases 1 to 1858) AUTHORS Jiang,J., Liu,W., Guo,X., Zhang,R., Zhi,Q., Ji,J., Zhang,J., Chen,X., Li,J., Zhang,J., Gu,Q., Liu,B., Zhu,Z. and Yu,Y. TITLE IRX1 influences peritoneal spreading and metastasis via inhibiting BDKRB2-dependent neovascularization on gastric cancer JOURNAL Oncogene 30 (44), 4498-4508 (2011) PUBMED 21602894 REMARK GeneRIF: enforcing IRX1 expression effectively suppresses peritoneal spreading and pulmonary metastasis via anti-angiogenesis and anti-VM mechanisms, in addition to previously found cell growth and invasion. REFERENCE 3 (bases 1 to 1858) AUTHORS Guo,X.B., Guo,L., Zhi,Q.M., Ji,J., Jiang,J.L., Zhang,R.J., Zhang,J.N., Zhang,J., Chen,X.H., Cai,Q., Li,J.F., Yan,M., Gu,Q.L., Liu,B.Y., Zhu,Z.G. and Yu,Y.Y. TITLE Helicobacter pylori induces promoter hypermethylation and downregulates gene expression of IRX1 transcription factor on human gastric mucosa JOURNAL J. Gastroenterol. Hepatol. 26 (11), 1685-1690 (2011) PUBMED 21649733 REMARK GeneRIF: Helicobacter pylori infection contributes to IRX1 promoter methylation in gastric mucosa. REFERENCE 4 (bases 1 to 1858) AUTHORS Davis,O.S., Butcher,L.M., Docherty,S.J., Meaburn,E.L., Curtis,C.J., Simpson,M.A., Schalkwyk,L.C. and Plomin,R. TITLE A three-stage genome-wide association study of general cognitive ability: hunting the small effects JOURNAL Behav. Genet. 40 (6), 759-767 (2010) PUBMED 20306291 REMARK GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 1858) AUTHORS Guo,X., Liu,W., Pan,Y., Ni,P., Ji,J., Guo,L., Zhang,J., Wu,J., Jiang,J., Chen,X., Cai,Q., Li,J., Zhang,J., Gu,Q., Liu,B., Zhu,Z. and Yu,Y. TITLE Homeobox gene IRX1 is a tumor suppressor gene in gastric carcinoma JOURNAL Oncogene 29 (27), 3908-3920 (2010) PUBMED 20440264 REMARK GeneRIF: IRX1 could potentially serve as a biomarker for gastric cancer. GeneRIF: Homeobox gene IRX1 is a tumor suppressor gene in gastric carcinoma. REFERENCE 6 (bases 1 to 1858) 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 7 (bases 1 to 1858) AUTHORS Lam,C.Y., Tam,P.O., Fan,D.S., Fan,B.J., Wang,D.Y., Lee,C.W., Pang,C.P. and Lam,D.S. TITLE A genome-wide scan maps a novel high myopia locus to 5p15 JOURNAL Invest. Ophthalmol. Vis. Sci. 49 (9), 3768-3778 (2008) PUBMED 18421076 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 8 (bases 1 to 1858) AUTHORS Bennett,K.L., Karpenko,M., Lin,M.T., Claus,R., Arab,K., Dyckhoff,G., Plinkert,P., Herpel,E., Smiraglia,D. and Plass,C. TITLE Frequently methylated tumor suppressor genes in head and neck squamous cell carcinoma JOURNAL Cancer Res. 68 (12), 4494-4499 (2008) PUBMED 18559491 REMARK GeneRIF: Frequent methylation of IRX1 gene is associated with head and neck squamous cell carcinoma REFERENCE 9 (bases 1 to 1858) AUTHORS Ogura,K., Matsumoto,K., Kuroiwa,A., Isobe,T., Otoguro,T., Jurecic,V., Baldini,A., Matsuda,Y. and Ogura,T. TITLE Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes JOURNAL Cytogenet. Cell Genet. 92 (3-4), 320-325 (2001) PUBMED 11435706 REFERENCE 10 (bases 1 to 1858) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY335938.1 and BC029160.1. On Aug 20, 2004 this sequence version replaced gi:41152512. Summary: This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY335938.1, BC029160.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025084 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-298 AY335938.1 1-298 299-1858 BC029160.1 1-1560 FEATURES Location/Qualifiers source 1..1858 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5p15.3" gene 1..1858 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /note="iroquois homeobox 1" /db_xref="GeneID:79192" /db_xref="HGNC:14358" /db_xref="HPRD:16203" /db_xref="MIM:606197" exon 1..328 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /inference="alignment:Splign:1.39.8" misc_feature 14..16 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /note="upstream in-frame stop codon" CDS 53..1495 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /note="iroquois homeobox protein 1; homeodomain protein IRXA1" /codon_start=1 /product="iroquois-class homeodomain protein IRX-1" /protein_id="NP_077313.3" /db_xref="GI:51479177" /db_xref="CCDS:CCDS34132.1" /db_xref="GeneID:79192" /db_xref="HGNC:14358" /db_xref="HPRD:16203" /db_xref="MIM:606197" /translation="
MSFPQLGYPQYLSAAGPGAYGGERPGVLAAAAAAAAAASSGRPGAAELGGGAGAAAVTSVLGMYAAAGPYAGAPNYSAFLPYAADLSLFSQMGSQYELKDNPGVHPATFAAHTAPAYYPYGQFQYGDPGRPKNATRESTSTLKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKVTWGARSKDQEDGALFGSDTEGDPEKAEDDEEIDLESIDIDKIDEHDGDQSNEDDEDKAEAPHAPAAPSALARDQGSPLAAADVLKPQDSPLGLAKEAPEPGSTRLLSPGAAAGGLQGAPHGKPKIWSLAETATSPDGAPKASPPPPAGHPGAHGPSAGAPLQHPAFLPSHGLYTCHIGKFSNWTNSAFLAQGSLLNMRSFLGVGAPHAAPHGPHLPAPPPPQPPVAIAPGALNGDKASVRSSPTLPERDLVPRPDSPAQQLKSPFQPVRDNSLAPQEGTPRILAALPSA
" misc_feature 434..619 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /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(434..448,452..454,512..514,530..532,569..571, 575..580,587..592,596..604,608..613) /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(440..442,449..451,578..580,587..592,599..601) /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" misc_feature <989..1030 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /note="Motif in Iroquois-class homeodomain proteins (only). Unknown function; Region: IRO; smart00548" /db_xref="CDD:128821" variation 217 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="g" /replace="t" /db_xref="dbSNP:370381455" variation 326 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:374320644" exon 329..1364 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /inference="alignment:Splign:1.39.8" variation 341 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:61757092" variation 361 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:374868633" variation 370 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:61743903" variation 385 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:139010207" variation 394 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="g" /replace="t" /db_xref="dbSNP:200766970" variation 396 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:373456065" variation 471 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:376527513" variation 483 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:142274438" STS 490..554 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /standard_name="Irx3" /db_xref="UniSTS:498475" variation 496 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:370898776" variation 508 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:374194797" variation 565 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:377716175" variation 614 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:372339050" variation 619 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:199583658" variation 650 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:143830823" variation 651 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:148184826" variation 664 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:371361752" variation 670 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:61745751" variation 701 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:61744556" variation 721 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="c" /db_xref="dbSNP:373684329" variation 781 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:367825706" variation 790 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:141212131" variation 816 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:370233658" variation 818 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:376236311" variation 823 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:370901303" variation 832 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:61741521" variation 882 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:368997184" variation 985 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:373622269" variation 1012 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:200644003" variation 1075 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:369355630" variation 1084 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:374559617" variation 1091 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="g" /replace="t" /db_xref="dbSNP:368780470" variation 1126 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:61746094" variation 1145 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="c" /db_xref="dbSNP:201398092" variation 1151 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:373494381" variation 1180 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:374546765" variation 1199 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:368097265" variation 1201 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:371820903" variation 1252 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="g" /replace="t" /db_xref="dbSNP:374378693" variation 1274 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:375423008" variation 1280 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:370996288" variation 1281 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:372921884" variation 1300 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:373574147" variation 1306 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="t" /db_xref="dbSNP:150332848" variation 1324 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:844154" variation 1336 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:375641279" exon 1365..1437 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /inference="alignment:Splign:1.39.8" variation 1370 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="g" /replace="t" /db_xref="dbSNP:374900719" variation 1375 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:370521377" variation 1385 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="c" /db_xref="dbSNP:6884950" variation 1425 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:376021360" exon 1438..1858 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /inference="alignment:Splign:1.39.8" variation 1461 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:369886565" variation 1464 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:200714951" variation 1476 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:373795101" variation 1497 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="g" /replace="t" /db_xref="dbSNP:201436384" variation 1526 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="" /replace="g" /db_xref="dbSNP:11300064" variation 1528 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="g" /db_xref="dbSNP:200638979" variation 1538 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="g" /db_xref="dbSNP:377284296" variation 1596 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="g" /replace="t" /db_xref="dbSNP:111827405" STS 1609..1733 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /standard_name="RH98982" /db_xref="UniSTS:86059" STS 1643..1736 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /standard_name="SHGC-56703" /db_xref="UniSTS:52856" variation 1684 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="a" /replace="c" /db_xref="dbSNP:113372448" variation 1749 /gene="IRX1" /gene_synonym="IRX-5; IRXA1" /replace="c" /replace="t" /db_xref="dbSNP:182715820" ORIGIN
ctccccgcgcctttaatactcgcccgctgcggcggtcgccgagtccgcggacatgtccttcccgcagctgggctacccgcagtacctgagcgccgcggggccgggcgcctacggcggcgagcgcccgggggtgctggccgcggccgctgcggcggctgccgccgcctcgtcgggccgaccgggggccgcggagctgggcggcggggcaggcgcggctgcagtcacctcggtgctgggcatgtacgcggcggcggggccgtacgcgggcgcgcccaactacagcgccttcctgccctacgccgcggatctcagcctcttctcgcagatgggctcgcagtatgaactgaaggacaaccctggggtgcaccccgccaccttcgcagcccacacggcgccggcttattacccctacggccagttccaatacggggaccccgggcggcccaagaacgccacccgcgagagcaccagcacgctcaaggcctggctcaacgagcaccgcaagaatccctaccccaccaagggcgagaagatcatgctggccatcatcaccaagatgaccctcacgcaggtctccacctggttcgccaacgcgcgccggcgcctcaagaaggagaacaaggtgacatggggagcgcgcagcaaggaccaggaagatggagcgctcttcggcagcgacaccgagggcgacccggagaaggccgaggacgacgaggagatcgacctggaaagcatcgacattgacaagatcgacgagcacgatggcgaccagagcaacgaggatgacgaggacaaggccgaggctccgcacgcgcccgcagccccttctgctcttgcccgggaccaaggctcgccgctggcagcagccgacgttctcaagccccaggactcgcccttgggcctggcaaaggaggccccagagccgggcagcacgcgcctgctgagccccggcgctgcagcgggcggcctgcagggtgcgccgcacggcaagcccaagatctggtcgctggcggagacagccacgagccccgacggtgcgcccaaggcttcgccaccaccacccgcgggccaccccggcgcgcacgggccctccgccggggcgccgctgcaacaccccgccttcctgcctagccacggactgtacacctgccacatcggcaagttctccaactggaccaacagcgcattcctcgcacagggctccctgctcaacatgcgctccttcctgggcgttggcgctccccacgccgcgccccatggccctcaccttcctgcacctccaccaccgcagccgccggtcgctattgccccgggggcactcaatggagacaaggcctcggtccgcagcagccccacgctcccagagagagacctcgtccccaggccagattcgccggcacagcagttaaagtcgcccttccagccggtacgcgacaactctctggccccgcaggagggaacgccgcggatcctagcagccctcccgtccgcctgattaagggtcttcttttacttttgcgggggggaggggggaggagttggggagggagggaatgtgggaggaattaagacaaatatttcagactggtgtaaaggacaaatatgacaacgacgtcaaggactcgcatccgtcgctttctgcagaaaggggcttcttcggtcccgagctcgcgtccaggtggccaggcctctgccggcggctccagtggctgcgattatcgggttcggtaaatgcccccacgtgcttgtgtctctttccccccttttctgtatatagagtggtttcagattgtaaatagcgcgtcagcgaacttgtctaaatcatatatttttgtctaataaactaaatgaaatgaca
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:79192 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:79192 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:79192 -> Biological process: GO:0072086 [specification of loop of Henle identity] evidence: IEA GeneID:79192 -> Biological process: GO:0072272 [proximal/distal pattern formation involved in metanephric nephron development] evidence: IEA GeneID:79192 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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