2024-03-29 16:31:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005853 2078 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA. ACCESSION NM_005853 XM_001129953 VERSION NM_005853.5 GI:139394645 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 2078) 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 2078) 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 2078) 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 2078) 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 2078) 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 2078) 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 and BC074850.2. This sequence is a reference standard in the RefSeqGene project. On Apr 3, 2007 this sequence version replaced gi:47778932. 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 (1) encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: AI814659.1, AI338253.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025087 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-655 AY335945.1 1-655 656-1482 BC074850.2 485-1311 1483-2078 AY335945.1 1480-2075 FEATURES Location/Qualifiers source 1..2078 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q12.2" gene 1..2078 /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..1539 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /db_xref="UniSTS:486427" CDS 1..1452 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /note="isoform 1 is encoded by transcript variant 1; iroquois-class homeodomain protein IRX-5; homeodomain protein IRXB2; homeodomain protein IRX-2A" /codon_start=1 /product="iroquois-class homeodomain protein IRX-5 isoform 1" /protein_id="NP_005844.4" /db_xref="GI:139394646" /db_xref="CCDS:CCDS10751.1" /db_xref="GeneID:10265" /db_xref="HGNC:14361" /db_xref="MIM:606195" /translation="
MSYPQGYLYQPSASLALYSCPAYSTSVISGPRTDELGRSSSGSAFSPYAGSTAFTAPSPGYNSHLQYGADPAAAAAAAFSSYVGSPYDHTPGMAGSLGYHPYAAPLGSYPYGDPAYRKNATRDATATLKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWTPRNRSEDEEEEENIDLEKNDEDEPQKPEDKGDPEGPEAGGAEQKAASGCERLQGPPTPAGKETEGSLSDSDFKEPPSEGRLDALQGPPRTGGPSPAGPAAARLAEDPAPHYPAGAPAPGPHPAAGEVPPGPGGPSVIHSPPPPPPPAVLAKPKLWSLAEIATSSDKVKDGGGGNEGSPCPPCPGPIAGQALGGSRASPAPAPSRSPSAQCPFPGGTVLSRPLYYTAPFYPGYTNYGSFGHLHGHPGPGPGPTTGPGSHFNGLNQTVLNRADALAKDPKMLRSQSQLDLCKDSPYELKKGMSDI
" 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..2064 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /inference="alignment:Splign:1.39.8" variation 681 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:139113918" variation 689 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="t" /db_xref="dbSNP:377050650" variation 691 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:200111411" variation 707 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:115549200" variation 713 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:374666773" variation 716 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:199865474" variation 717 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:369095091" variation 763 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:13336114" variation 778 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:199861709" variation 876 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:7188328" variation 1092 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:375662858" variation 1101 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:201738191" variation 1116 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:370016055" variation 1135 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:201360101" variation 1141 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:377649301" variation 1145 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:202086902" variation 1156 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:375313978" variation 1164 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="g" /replace="t" /db_xref="dbSNP:377595777" variation 1183 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:370331090" variation 1232 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:200394212" variation 1254 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:373826345" variation 1265 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:143660069" variation 1292 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:368818152" variation 1381 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:201200647" variation 1394 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:147189488" variation 1421 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:200920393" variation 1465 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:202087837" variation 1482 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:181048280" variation 1525..1528 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="" /replace="gaga" /db_xref="dbSNP:375453518" variation 1577 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:183727841" variation 1617 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:189712212" variation 1623 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="" /replace="a" /db_xref="dbSNP:375093347" variation 1624 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:7190373" variation 1625..1627 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="aaa" /replace="cac" /db_xref="dbSNP:367688412" variation 1625 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:113225061" variation 1626 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="g" /replace="t" /db_xref="dbSNP:1133610" variation 1641 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:371830279" variation 1682 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="g" /db_xref="dbSNP:141076276" variation 1704..1708 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="" /replace="gcatt" /db_xref="dbSNP:71865827" variation 1807 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="g" /db_xref="dbSNP:374076585" variation 1839 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="t" /db_xref="dbSNP:181183549" variation 1906 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:1133611" variation 1995 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="c" /replace="t" /db_xref="dbSNP:186840955" polyA_signal 2037..2042 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" variation 2061 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" /replace="a" /replace="c" /db_xref="dbSNP:192716743" polyA_site 2064 /gene="IRX5" /gene_synonym="HMMS; IRX-2a; IRXB2" ORIGIN
atgtcctatccgcagggctacttgtaccagccgtccgcctcgctggcgctctactcgtgcccggcgtacagcaccagcgtcatttcggggccccgcacggatgagctcggccgctcttcttcgggctccgcgttctcgccctacgctggctcgactgccttcacggcgccctcgccgggctacaactcgcacctccagtacggcgccgaccccgcggccgccgccgccgccgccttctcctcgtacgtgggctctccctacgaccacacacccggcatggcgggctccttggggtaccatccttacgcggcgcccctgggatcgtacccttacggggacccagcgtaccggaagaacgccacaagggacgccacggctaccctcaaggcctggctcaacgagcaccgcaagaacccctaccccaccaagggcgagaagatcatgctggccatcatcaccaagatgaccctcacccaggtgtccacctggttcgccaacgcgcgccggcgcctcaagaaagagaataaaatgacgtggacgccgcggaaccgcagcgaggacgaggaagaggaggagaacattgacctggagaagaacgacgaggacgagccccagaagcccgaggacaagggcgaccccgagggccccgaagcaggaggagctgagcagaaggcggcttcgggctgcgaacggcttcagggaccacccacccctgcaggcaaggagacggagggcagcctcagcgactcggattttaaggagccgccctcggagggccgcctcgacgcgctgcagggccccccccgcaccggcgggccctccccggctgggccagcggcggcgcggctggcggaggacccggcccctcactaccccgccggagcgccggcgcccggcccgcatccagccgcgggcgaggtgcctccgggtcccggcgggccctcggttatccattcgccgcctccgccgccgcctcctgcggtgctcgccaagcccaaactgtggtctttggcagagatcgccacatcgtcggacaaggtcaaggacgggggcggcgggaacgagggctctccatgcccaccgtgtcccgggcccatagccgggcaagccctaggaggcagccgggcgtcgccggccccggcgccgtcacgctcgccctcggcgcagtgtccttttccaggcgggacggtgctgtcccggcctctctactacaccgcgcccttctatcccggctacacgaactatggctccttcggacaccttcatggccacccggggcccgggccaggccccacaaccggtccggggtctcatttcaatggattaaaccagaccgtgttgaaccgagcggacgctttggctaaagacccgaaaatgttgcggagccagtctcagctagacctgtgcaaagactctccctatgaattgaagaaaggtatgtccgacatttaacgcgggctgcgtcggtcccggacttttctaatttattaaaaacatggccttggcagttatttttccatcaccgagagagagagacagagagagaaaataaactacccctcctattcagaagtttatagtttatggagatggatgacataaaaatgtaaacatctccacacaaaaaaaaaaatgtcttaaccaaccgaaaagaaaaattaaaaaaggatttgtattaaatcttattctgtatatttaatgtagcatttttgtatttaaattgataattcaatatctttgaagtaaattatgaaatcaagacacctgtacaggcatttaatgtttttttgtaatataaatatatacatttgtgtttcccccaaaactgtttcatagttaaaaaatacaagtttaatttaattttttacacctattgattctgctgggtatgagctaaagtattacagaaaggaaacaggttatactcttagatttaaaaagtgaaagaaactgcaggcgcctttgtaaaatgcaaaatatttaattaaaagagattttaacataatgagagccactcattactttttagaagcctcaataaactgtccattgccttggtcaaaaaaaaaaaaaaaaaa
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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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