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2025-05-09 19:38:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_017420 6277 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens SIX homeobox 4 (SIX4), mRNA. ACCESSION NM_017420 VERSION NM_017420.4 GI:295789122 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 6277) AUTHORS Gallardo,M.E., Lopez-Rios,J., Fernaud-Espinosa,I., Granadino,B., Sanz,R., Ramos,C., Ayuso,C., Seller,M.J., Brunner,H.G., Bovolenta,P. and Rodriguez de Cordoba,S. TITLE Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies JOURNAL Genomics 61 (1), 82-91 (1999) PUBMED 10512683 REFERENCE 2 (bases 1 to 6277) AUTHORS Ozaki,H., Yamada,K., Kobayashi,M., Asakawa,S., Minoshima,S., Shimizu,N., Kajitani,M. and Kawakami,K. TITLE Structure and chromosome mapping of the human SIX4 and murine Six4 genes JOURNAL Cytogenet. Cell Genet. 87 (1-2), 108-112 (1999) PUBMED 10640827 REFERENCE 3 (bases 1 to 6277) AUTHORS Kawakami,K., Ohto,H., Ikeda,K. and Roeder,R.G. TITLE Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development JOURNAL Nucleic Acids Res. 24 (2), 303-310 (1996) PUBMED 8628654 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL132777.4, BC099722.1 and AA424469.1. This sequence is a reference standard in the RefSeqGene project. On May 5, 2010 this sequence version replaced gi:142976637. Summary: This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC098135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025086 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-124 AL132777.4 137174-137297 125-2406 BC099722.1 2-2283 2407-6192 AL132777.4 147902-151687 6193-6277 AA424469.1 1-85 c FEATURES Location/Qualifiers source 1..6277 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q23" gene 1..6277 /gene="SIX4" /gene_synonym="AREC3" /note="SIX homeobox 4" /db_xref="GeneID:51804" /db_xref="HGNC:10890" /db_xref="MIM:606342" exon 1..923 /gene="SIX4" /gene_synonym="AREC3" /inference="alignment:Splign:1.39.8" misc_feature 31..33 /gene="SIX4" /gene_synonym="AREC3" /note="upstream in-frame stop codon" CDS 61..2406 /gene="SIX4" /gene_synonym="AREC3" /note="sine oculis homeobox homolog 4" /codon_start=1 /product="homeobox protein SIX4" /protein_id="NP_059116.3" /db_xref="GI:142976638" /db_xref="CCDS:CCDS9749.2" /db_xref="GeneID:51804" /db_xref="HGNC:10890" /db_xref="MIM:606342" /translation="
MSSSSPTGQIASAADIKQENGMESASEGQEAHREVAGGAAVGLSPPAPAPFPLEPGDAATAAARVSGEEGAVAAAAAGAAADQVQLHSELLGRHHHAAAAAAQTPLAFSPDHVACVCEALQQGGNLDRLARFLWSLPQSDLLRGNESLLKARALVAFHQGIYPELYSILESHSFESANHPLLQQLWYKARYTEAERARGRPLGAVDKYRLRRKFPLPRTIWDGEETVYCFKEKSRNALKELYKQNRYPSPAEKRHLAKITGLSLTQVSNWFKNRRQRDRNPSETQSKSESDGNPSTEDESSKGHEDLSPHPLSSSSDGITNLSLSSHMEPVYMQQIGNAKISLSSSGVLLNGSLVPASTSPVFLNGNSFIQGPSGVILNGLNVGNTQAVALNPPKMSSNIVSNGISMTDILGSTSQDVKEFKVLQSSANSATTTSYSPSVPVSFPGLIPSTEVKREGIQTVASQDGGSVVTFTTPVQINQYGIVQIPNSGANSQFLNGSIGFSPLQLPPVSVAASQGNISVSSSTSDGSTFTSESTTVQQGKVFLSSLAPSAVVYTVPNTGQTIGSVKQEGLERSLVFSQLMPVNQNAQVNANLSSENISGSGLHPLASSLVNVSPTHNFSLSPSTLLNPTELNRDIADSQPMSAPVASKSTVTSVSNTNYATLQNCSLITGQDLLSVPMTQAALGEIVPTAEDQVGHPSPAVHQDFVQEHRLVLQSVANMKENFLSNSESKATSSLMMLDSKSKYVLDGMVDTVCEDLETDKKELAKLQTVQLDEDMQDL
"
misc_feature 64..66
/gene="SIX4"
/gene_synonym="AREC3"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylserine; propagated from
UniProtKB/Swiss-Prot (Q9UIU6.2); acetylation site"
misc_feature 748..906
/gene="SIX4"
/gene_synonym="AREC3"
/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(748..750,799..801,817..819,856..858,862..867,
874..879,883..891,895..900)
/gene="SIX4"
/gene_synonym="AREC3"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(865..867,874..879,886..888)
/gene="SIX4"
/gene_synonym="AREC3"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
misc_feature 1978..1980
/gene="SIX4"
/gene_synonym="AREC3"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9UIU6.2); phosphorylation site"
misc_feature 1978..1980
/gene="SIX4"
/gene_synonym="AREC3"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
exon 924..1609
/gene="SIX4"
/gene_synonym="AREC3"
/inference="alignment:Splign:1.39.8"
exon 1610..6275
/gene="SIX4"
/gene_synonym="AREC3"
/inference="alignment:Splign:1.39.8"
variation 1874
/gene="SIX4"
/gene_synonym="AREC3"
/replace="a"
/replace="c"
/db_xref="dbSNP:3742636"
polyA_signal 3887..3892
/gene="SIX4"
/gene_synonym="AREC3"
polyA_site 3909
/gene="SIX4"
/gene_synonym="AREC3"
STS 4052..4154
/gene="SIX4"
/gene_synonym="AREC3"
/standard_name="D11S2921"
/db_xref="UniSTS:152074"
STS 4074..4156
/gene="SIX4"
/gene_synonym="AREC3"
/standard_name="L18426"
/db_xref="UniSTS:34648"
STS 4083..4152
/gene="SIX4"
/gene_synonym="AREC3"
/standard_name="D1S1423"
/db_xref="UniSTS:149619"
STS 4106..4208
/gene="SIX4"
/gene_synonym="AREC3"
/standard_name="D8S2278"
/db_xref="UniSTS:473906"
STS 4114..4203
/gene="SIX4"
/gene_synonym="AREC3"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
variation 5308
/gene="SIX4"
/gene_synonym="AREC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:200060970"
STS 5918..6070
/gene="SIX4"
/gene_synonym="AREC3"
/standard_name="RH93867"
/db_xref="UniSTS:84980"
variation 6046
/gene="SIX4"
/gene_synonym="AREC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:2180830"
STS 6073..6196
/gene="SIX4"
/gene_synonym="AREC3"
/standard_name="RH103360"
/db_xref="UniSTS:97690"
polyA_signal 6252..6257
/gene="SIX4"
/gene_synonym="AREC3"
polyA_site 6275
/gene="SIX4"
/gene_synonym="AREC3"
ORIGIN
ggaaagaaagaggaaaagagtgcgagggagtgagggagggaggaaaataaacaacaaaaaatgtcctcttcctcccccaccgggcagatcgcaagtgcggcggacatcaagcaagagaatgggatggaaagcgcctcggaagggcaggaggcgcaccgagaagtggcggggggcgcggcggtagggctgagccccccggctccagccccttttcccctggagccgggggacgccgcgaccgctgccgccagggtgagcggagaggaaggggcagtggcggcggcggcggccggagcggcggcggatcaggtacaactccactcggaacttctgggcaggcaccaccacgccgccgccgccgccgcgcagaccccgctggccttctcgcccgaccacgtcgcctgcgtgtgcgaggcactgcagcaggggggcaacctggaccgcctggcccggttcctgtggtccctgccccagagcgacctgctacgtggcaacgagagcctgctgaaggcgcgggcgctcgtggccttccaccagggcatctaccccgagctctacagcatcctcgagagccacagcttcgagtcggccaaccacccgctgctgcagcagctctggtacaaggcgcgctacaccgaggccgagcgagcccgcggccggccgctgggagccgtagacaagtaccggctgcgcaggaaattccccctgccccgcaccatctgggacggcgaggagacggtgtattgtttcaaggagaagtcgcgcaacgcgctcaaggagctctacaagcagaatcgctacccttcgcccgccgagaagcggcacctggccaagatcaccggcctctccctcacccaggtcagcaactggttcaagaaccgccggcagcgcgacaggaacccctccgagacccagtccaaaagtgagtcagatggcaaccccagcactgaagatgaatccagcaagggacatgaggatttatctcctcacccactctccagttcatctgatggcatcaccaacctcagcctttccagtcatatggagccagtatatatgcaacaaattggaaatgctaagatatcattaagctcttctggagttctgttgaatggaagcttggtacctgcaagtacttcacctgtcttccttaatggaaattcttttattcagggacccagtggagttatccttaatggattaaatgtgggaaatacacaggcagtggcattgaacccaccaaaaatgtcatcaaacattgtgagcaatggtatatccatgactgacatactggggtctacttcccaggacgtgaaggaattcaaagtcctccagagttctgctaactcagcaaccaccacgtcctacagccccagtgtccctgtctcattcccaggcctgatacccagcactgaggtgaaaagagaaggcattcaaacagtggcttcccaagatggagggtctgtagtgacttttactacaccagtgcaaattaaccagtatggcattgtccagatccccaattccggagcaaacagccagttccttaatgggagcattggattctctccactgcagctgccccctgtgtcagtggcagcttcacaaggtaatatctcagtaagctcaagcacttcagatggaagcacatttacaagtgagtctaccacagtccagcaaggaaaggttttcttgagctctcttgctcccagtgcagtggtatacacggttcctaatacaggccagactataggatctgtgaaacaggaaggcttggaaaggagcctggtattttctcagttgatgcctgtcaatcagaatgcacaagtaaatgcaaacctgtcttctgaaaacatctcggggagtggcctgcatccactggcctcctcattagttaatgtatctccaactcacaatttttctctcagtccctctacactactaaatcccactgagctaaaccgcgacattgccgatagccaaccaatgtctgcaccggtggcaagcaaatctactgtgacatctgtcagcaacactaactatgcaactcttcagaactgctcccttattactggtcaagacctattgtcagtccctatgactcaggctgcccttggggaaatagttcctacagctgaagatcaggtaggtcacccctccccagcagtacatcaggattttgtccaagaacatcgtttggttctgcaatcggtagctaacatgaaagagaatttcttatcaaattctgagagcaaagcaacaagtagcttaatgatgctggactctaaatccaagtatgtcttagatggcatggttgatactgtctgtgaagacctggaaacagacaaaaaagagcttgccaagctccagactgtccagctggatgaagatatgcaagacttatgaactttatttcctcctcacctctttttggcatcagcggcaaatcttttcatgaagccccaaggacacaaaacattttcccatttaaaggaaaacactctagttttgcaagtatatgcatacaagagactttagattgatctgcatgaagatcacagttaagtatacaggagtagaactgcattattgcagcctttttgttcacttataaatttctcttttaaatagatggagacaaaggacaaggtgaaatgtatcaagtcaaagtgaatcatttagttgactctataattctaaggtcaaaatggaacttgatagttttttaaattaaaaaatgtatacacctaacatagaaaattaaagatagctgcagaccattagaaataatacaattgtttttgtttacttttactccatgggcattgaaaaggttaagaaacataaatggtacatatttttaaagttaagtagcatgcatatatatatgcacacacacctctttttcagcattttttgagaaagtcttgggtctcaaacacatttgtctcaacacatttccaaatgtgatttctaatagctcagtgtggctgagaaagtgcggaactccactaaaaactctgaaacttcagtataaatgtaaatatatcagttctataagcaggatttgagtaattacagtgaattttatttttaatgtatatgtttctcttcaggcgctatgaactgaaaaatatgttttcttactgtttaatttatttttattgtttgaacaggaagtgaacatagtcgtttccaacaaagttttactttttgtaggattttaaaaataatgatttttaccaggaatctattaaggtcaatattaataacactgaaacaggaaatctaactcccaatattggaattttggtactttttttcacatccttgttctttatttagcaactctgattcatttaaatatgttttttatagaattctatgtgcctttttacctcgtggcctttttattggtagtaaggtacagaagtgtcaacagaagcactgatggttcttttctactatctaacagggttaatttcaccacaaaattgctttaaatctgaagaacttaagtttcactaaataatatatatgacatttatcacacaaatggataaacaactaattattgttgatacttttcattacaaggaaaataagttataaataccatgtcaaattgattatacaggctatgaaaaccattttaaaggaaagaaaatatgtaaattctattgagcaaaattctgtcctgttgaaacttagttctaaaggttttgaatcagttgttacactctgacacatgactgttgtttgcactatattatcatgtcttctttaaaagtaaatatttttggtttctgtaagaagcttgtttaataatgttgtaagccgtggctatagttttatcaagactctgaacacaagatgtaacaatgcaaataaatttatgtagtgagtaaagttgctctctagtctctgaaaagcaaaaaaagtgagaaaataatttcttcagagataacttcaagttgttgaacataaaggtgttagatgttagcacatcttgctttttttttttttttgagatggagtctcgctctgttgcccaggctggagtgcagtggcacgatcttggctcactgcaagctctgcctcctgggttcacgccattctcctgcctcagcctcccgagtagctgggactacaggcacctgccaccatgcccggctaaatttttgtatttttagtagagacggggtttcaccgtgttagccaggatggtcttgatctcctgacctcgtgatctgcccgcctcggcctcccaaagtgctgggattataggcatgagccactgtgcctggccacatcttgcttttttttttatgatcagaacaaagggcccactctagttctctacatgtcaatcaatcaagcatgttgaataagggacatagaggatttaacttttgttatcataaatggaacttgcaggcatatatcaagaaccctatgaagaattcctctcccatcattttgataaagaactacatcatttttgatagaattggtgaatgttcctaaactgctgaagctacatgttttttgttttgttttacaaagtcaggtgtttgagagttcttttccactctactactactcatagagcttgttttttctttgggtgtgtgctgatcctgttactgagattaattacatggctctgcagtgtagtttacataaaaatgatgttttccacttgattgctgcagatatcaagagtttgttattttcaaatacccatccaacaagagagatggggaggtttttagttatatatgctatatatatatatataactggaaatgttttatatgttttccgaaaatacaataagcctctcttttattcagtgttcttcctcttttctcccttatgaaaaagaaaagatagcacaaaacttaagacttacctaggaaacccattcatattcccaccatgatgtaattataaccctacaattacttcaggtagctacacaatataccaggtaagaatcaatgcacagtataaagaacttattgttcttttctattctttcagttgaataagggccagttggtatgcagcccatgtatatgtgaatggagtaagataaaccccatgatctccttgcacagaattgcaaatgtcttttgccataccaagggccagactcagaacccttggagtcatgtggcagaatttccctcttacataaaccaatgcttgaaaatgctgcaaatgaccctctaatgatccctgaagatcaaaacaggggtaaatgactccctgcaaaacccaacccatgctgctggctgtgggatttttggtgtaagcctatctatgcactctatcagccagaatttggcatttagctcttagttaaatctagtaaaggacagtctattgtttaaagagaaggtgcatttgttcctcaatcaagcaagagcacctgtgttgtactgctttatatctcatgtatatttatagtaatgaaaagactttttaaattgtacacgtttcagtgcctttcttgtgttatgaaaggcaggtagatattatagccataggtaaaaatccatagttaaattgcacactgaccttaaatctctctgtgtatgcccttgtatcttgcatgttaaaagttggattattgggcatgtgtggcagcctgccctgctacatgctagacaagtgtgctttagtacatagccacaagttcttcattctttaaaatgttttgacagatcatctcataataaaaataattcaggaaaactatggggaaatagttacatttcacaaaagatattttaaactctttgtaaaacttagataatagagcctagcagttactttgtatctaattgatacattttatgttaatttaccaccatacattttattaatcaaaattgtatagcatgtgactcttttggctttcagagttctcaaaaatattattttgttgcatgtactgtatgtttagaggcaaccaattatatactcaatatggttttactgtgccttacacaaagagaaactctatacagaatgtatatcatggggtggggtaacagagtctttactgcactgttaggtgatggcacacagagcatgtcccagaacatttctgtgcttaattacccaaccaaagagatctgaagtatgtatgtcgtactgtaatgggggtttatgcctggacaattaagtgttttatttgttttctgaaatgatgtgaacttatttttctaaacactatgctaaataaactttatatttatacatacaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:51804 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:51804 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:51804 -> Biological process: GO:0007519 [skeletal muscle tissue development] evidence: IEA
GeneID:51804 -> Biological process: GO:0008582 [regulation of synaptic growth at neuromuscular junction] evidence: IEA
GeneID:51804 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS
GeneID:51804 -> Biological process: GO:0032880 [regulation of protein localization] evidence: IEA
GeneID:51804 -> Biological process: GO:0042472 [inner ear morphogenesis] evidence: IEA
GeneID:51804 -> Biological process: GO:0043524 [negative regulation of neuron apoptotic process] evidence: IEA
GeneID:51804 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:51804 -> Biological process: GO:0048538 [thymus development] evidence: IEA
GeneID:51804 -> Biological process: GO:0048699 [generation of neurons] evidence: IEA
GeneID:51804 -> Biological process: GO:0048701 [embryonic cranial skeleton morphogenesis] evidence: IEA
GeneID:51804 -> Biological process: GO:0051451 [myoblast migration] evidence: IEA
GeneID:51804 -> Biological process: GO:0072075 [metanephric mesenchyme development] evidence: IEA
GeneID:51804 -> Biological process: GO:0072095 [regulation of branch elongation involved in ureteric bud branching] evidence: IEA
GeneID:51804 -> Biological process: GO:0072107 [positive regulation of ureteric bud formation] evidence: IEA
GeneID:51804 -> Biological process: GO:0090190 [positive regulation of branching involved in ureteric bud morphogenesis] evidence: IEA
GeneID:51804 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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