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2024-03-30 00:17:03, 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:

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

by @meso_cacase at DBCLS
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