2025-05-09 20:25:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001252197 2075 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 2, mRNA. ACCESSION NM_001252197 VERSION NM_001252197.1 GI:356582256 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 2075) AUTHORS Bonnard,C., Strobl,A.C., Shboul,M., Lee,H., Merriman,B., Nelson,S.F., Ababneh,O.H., Uz,E., Guran,T., Kayserili,H., Hamamy,H. and Reversade,B. TITLE Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 JOURNAL Nat. Genet. 44 (6), 709-713 (2012) PUBMED 22581230 REMARK GeneRIF: Our findings suggest that IRX proteins integrate combinatorial transcriptional inputs to regulate key signaling molecules involved in the ontogeny of multiple organs during embryogenesis and homeostasis. Publication Status: Online-Only REFERENCE 2 (bases 1 to 2075) 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 3 (bases 1 to 2075) AUTHORS Myrthue,A., Rademacher,B.L., Pittsenbarger,J., Kutyba-Brooks,B., Gantner,M., Qian,D.Z. and Beer,T.M. TITLE The iroquois homeobox gene 5 is regulated by 1,25-dihydroxyvitamin D3 in human prostate cancer and regulates apoptosis and the cell cycle in LNCaP prostate cancer cells JOURNAL Clin. Cancer Res. 14 (11), 3562-3570 (2008) PUBMED 18519790 REMARK GeneRIF: Irx5 is involved in the regulation of both the cell cycle and apoptosis in human prostate cancer cells REFERENCE 4 (bases 1 to 2075) AUTHORS Bruneau,B.G. TITLE [Irx5: a transcription factor that regulates the cardiac repolarization gradient] JOURNAL Med Sci (Paris) 22 (3), 231-232 (2006) PUBMED 16527195 REMARK GeneRIF: involved in transcriptional regulation of heart morphogenesis REFERENCE 5 (bases 1 to 2075) 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 6 (bases 1 to 2075) 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 REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AY335945.1. Summary: This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. Transcript Variant: This variant (2) uses an alternate, in-frame acceptor splice site at the 3' terminal exon compared to variant 1. This results in an isoform (2) that is 1 aa shorter than isoform 1. ##Evidence-Data-START## Transcript exon combination :: AY335945.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025083, ERS025087 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-2075 AY335945.1 1-2075 FEATURES Location/Qualifiers source 1..2075 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q12.2" gene 1..2075 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /note="iroquois homeobox 5" /db_xref="GeneID:10265" /db_xref="HGNC:14361" /db_xref="MIM:606195" STS 1..1536 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /db_xref="UniSTS:486427" CDS 1..1449 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /note="isoform 2 is encoded by transcript variant 2; iroquois-class homeodomain protein IRX-5; homeodomain protein IRXB2; homeodomain protein IRX-2A" /codon_start=1 /product="iroquois-class homeodomain protein IRX-5 isoform 2" /protein_id="NP_001239126.1" /db_xref="GI:356582257" /db_xref="CCDS:CCDS58462.1" /db_xref="GeneID:10265" /db_xref="HGNC:14361" /db_xref="MIM:606195" /translation="
MSYPQGYLYQPSASLALYSCPAYSTSVISGPRTDELGRSSSGSAFSPYAGSTAFTAPSPGYNSHLQYGADPAAAAAAAFSSYVGSPYDHTPGMAGSLGYHPYAAPLGSYPYGDPAYRKNATRDATATLKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWTPRNRSEDEEEEENIDLEKNDEDEPQKPEDKGDPEGPEAGAEQKAASGCERLQGPPTPAGKETEGSLSDSDFKEPPSEGRLDALQGPPRTGGPSPAGPAAARLAEDPAPHYPAGAPAPGPHPAAGEVPPGPGGPSVIHSPPPPPPPAVLAKPKLWSLAEIATSSDKVKDGGGGNEGSPCPPCPGPIAGQALGGSRASPAPAPSRSPSAQCPFPGGTVLSRPLYYTAPFYPGYTNYGSFGHLHGHPGPGPGPTTGPGSHFNGLNQTVLNRADALAKDPKMLRSQSQLDLCKDSPYELKKGMSDI
" misc_feature 349..525 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /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(349..354,358..360,418..420,436..438,475..477, 481..486,493..498,502..510,514..519) /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(355..357,484..486,493..498,505..507) /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" exon 1..249 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /inference="alignment:Splign:1.39.8" variation 25 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="t" /db_xref="dbSNP:13336969" variation 61 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:373958797" variation 100 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:377035980" variation 128 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:200623174" exon 250..655 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /inference="alignment:Splign:1.39.8" variation 258 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:367957249" variation 324 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:374150005" variation 357 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:151037166" variation 375 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:377509714" STS 396..460 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /standard_name="Irx3" /db_xref="UniSTS:498475" variation 402 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:141819678" variation 448 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:387907198" variation 471 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:201130194" variation 510 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:370696419" variation 567 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:150223604" variation 646 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:373164018" exon 656..2061 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /inference="alignment:Splign:1.39.8" variation 678 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:139113918" variation 686 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="t" /db_xref="dbSNP:377050650" variation 688 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:200111411" variation 704 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:115549200" variation 710 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:374666773" variation 713 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:199865474" variation 714 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:369095091" variation 760 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:13336114" variation 775 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:199861709" variation 873 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:7188328" variation 1089 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:375662858" variation 1098 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:201738191" variation 1113 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:370016055" variation 1132 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:201360101" variation 1138 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:377649301" variation 1142 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:202086902" variation 1153 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:375313978" variation 1161 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="g" /replace="t" /db_xref="dbSNP:377595777" variation 1180 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:370331090" variation 1229 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:200394212" variation 1251 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:373826345" variation 1262 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:143660069" variation 1289 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:368818152" variation 1378 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:201200647" variation 1391 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:147189488" variation 1418 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:200920393" variation 1462 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:202087837" variation 1479 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:181048280" variation 1522..1525 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="" /replace="gaga" /db_xref="dbSNP:375453518" variation 1574 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:183727841" variation 1614 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:189712212" variation 1620 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="" /replace="a" /db_xref="dbSNP:375093347" variation 1621 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:7190373" variation 1622..1624 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="aaa" /replace="cac" /db_xref="dbSNP:367688412" variation 1622 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:113225061" variation 1623 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="g" /replace="t" /db_xref="dbSNP:1133610" variation 1638 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:371830279" variation 1679 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:141076276" variation 1701..1705 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="" /replace="gcatt" /db_xref="dbSNP:71865827" variation 1804 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:374076585" variation 1836 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="t" /db_xref="dbSNP:181183549" variation 1903 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:1133611" variation 1992 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:186840955" polyA_signal 2034..2039 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" variation 2058 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:192716743" polyA_site 2061 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" ORIGIN
atgtcctatccgcagggctacttgtaccagccgtccgcctcgctggcgctctactcgtgcccggcgtacagcaccagcgtcatttcggggccccgcacggatgagctcggccgctcttcttcgggctccgcgttctcgccctacgctggctcgactgccttcacggcgccctcgccgggctacaactcgcacctccagtacggcgccgaccccgcggccgccgccgccgccgccttctcctcgtacgtgggctctccctacgaccacacacccggcatggcgggctccttggggtaccatccttacgcggcgcccctgggatcgtacccttacggggacccagcgtaccggaagaacgccacaagggacgccacggctaccctcaaggcctggctcaacgagcaccgcaagaacccctaccccaccaagggcgagaagatcatgctggccatcatcaccaagatgaccctcacccaggtgtccacctggttcgccaacgcgcgccggcgcctcaagaaagagaataaaatgacgtggacgccgcggaaccgcagcgaggacgaggaagaggaggagaacattgacctggagaagaacgacgaggacgagccccagaagcccgaggacaagggcgaccccgagggccccgaagcaggagctgagcagaaggcggcttcgggctgcgaacggcttcagggaccacccacccctgcaggcaaggagacggagggcagcctcagcgactcggattttaaggagccgccctcggagggccgcctcgacgcgctgcagggccccccccgcaccggcgggccctccccggctgggccagcggcggcgcggctggcggaggacccggcccctcactaccccgccggagcgccggcgcccggcccgcatccagccgcgggcgaggtgcctccgggtcccggcgggccctcggttatccattcgccgcctccgccgccgcctcctgcggtgctcgccaagcccaaactgtggtctttggcagagatcgccacatcgtcggacaaggtcaaggacgggggcggcgggaacgagggctctccatgcccaccgtgtcccgggcccatagccgggcaagccctaggaggcagccgggcgtcgccggccccggcgccgtcacgctcgccctcggcgcagtgtccttttccaggcgggacggtgctgtcccggcctctctactacaccgcgcccttctatcccggctacacgaactatggctccttcggacaccttcatggccacccggggcccgggccaggccccacaaccggtccggggtctcatttcaatggattaaaccagaccgtgttgaaccgagcggacgctttggctaaagacccgaaaatgttgcggagccagtctcagctagacctgtgcaaagactctccctatgaattgaagaaaggtatgtccgacatttaacgcgggctgcgtcggtcccggacttttctaatttattaaaaacatggccttggcagttatttttccatcaccgagagagagagacagagagagaaaataaactacccctcctattcagaagtttatagtttatggagatggatgacataaaaatgtaaacatctccacacaaaaaaaaaaatgtcttaaccaaccgaaaagaaaaattaaaaaaggatttgtattaaatcttattctgtatatttaatgtagcatttttgtatttaaattgataattcaatatctttgaagtaaattatgaaatcaagacacctgtacaggcatttaatgtttttttgtaatataaatatatacatttgtgtttcccccaaaactgtttcatagttaaaaaatacaagtttaatttaattttttacacctattgattctgctgggtatgagctaaagtattacagaaaggaaacaggttatactcttagatttaaaaagtgaaagaaactgcaggcgcctttgtaaaatgcaaaatatttaattaaaagagattttaacataatgagagccactcattactttttagaagcctcaataaactgtccattgccttggtcaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10265 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:10265 -> Molecular function: GO:0005499 [vitamin D binding] evidence: IEA GeneID:10265 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:10265 -> Biological process: GO:0002027 [regulation of heart rate] evidence: IEA GeneID:10265 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:10265 -> Biological process: GO:0007601 [visual perception] evidence: IEA GeneID:10265 -> Biological process: GO:0008406 [gonad development] evidence: IMP GeneID:10265 -> Biological process: GO:0042551 [neuron maturation] evidence: IEA GeneID:10265 -> Biological process: GO:0048701 [embryonic cranial skeleton morphogenesis] evidence: IMP GeneID:10265 -> Biological process: GO:0050896 [response to stimulus] evidence: IEA GeneID:10265 -> Biological process: GO:0060040 [retinal bipolar neuron differentiation] evidence: IEA GeneID:10265 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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