2024-04-23 19:25:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_012447 4285 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens stromal antigen 3 (STAG3), mRNA. ACCESSION NM_012447 VERSION NM_012447.2 GI:57863309 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 4285) AUTHORS Notaridou M, Quaye L, Dafou D, Jones C, Song H, Hogdall E, Kjaer SK, Christensen L, Hogdall C, Blaakaer J, McGuire V, Wu AH, Van Den Berg DJ, Pike MC, Gentry-Maharaj A, Wozniak E, Sher T, Jacobs IJ, Tyrer J, Schildkraut JM, Moorman PG, Iversen ES, Jakubowska A, Medrek K, Lubinski J, Ness RB, Moysich KB, Lurie G, Wilkens LR, Carney ME, Wang-Gohrke S, Doherty JA, Rossing MA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Beesley J, Gronwald J, Fasching PA, Chang-Claude J, Goodman MT, Chenevix-Trench G, Berchuck A, Pearce CL, Whittemore AS, Menon U, Pharoah PD, Gayther SA and Ramus SJ. CONSRTM Australian Ovarian Cancer Study Group/Australian Cancer Study (Ovarian Cancer); Ovarian Cancer Association Consortium TITLE Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer JOURNAL Int. J. Cancer 128 (9), 2063-2074 (2011) PUBMED 20635389 REMARK GeneRIF: we show evidence for the involvement of a common allele of STAG3 in the development of epithelial ovarian cancer GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 2 (bases 1 to 4285) AUTHORS Quaye,L., Dafou,D., Ramus,S.J., Song,H., Gentry-Maharaj,A., Notaridou,M., Hogdall,E., Kjaer,S.K., Christensen,L., Hogdall,C., Easton,D.F., Jacobs,I., Menon,U., Pharoah,P.D. and Gayther,S.A. TITLE Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival JOURNAL Hum. Mol. Genet. 18 (10), 1869-1878 (2009) PUBMED 19270026 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2009 Aug 1;18(15):2928. Maharaj, Aleksandra Gentry [corrected to Gentry-Maharaj, Aleksandra]] REFERENCE 3 (bases 1 to 4285) AUTHORS Maeshima,K., Yoshida,K. and Shirahige,K. TITLE [Function of cohesin in transcription] JOURNAL Tanpakushitsu Kakusan Koso 53 (11), 1337-1344 (2008) PUBMED 18788457 REMARK GeneRIF: plays a role in regulation of transcription due to genetic imprinting, sister chromatid exchange, chromosome segregation and as an insulator element. (review) Review article REFERENCE 4 (bases 1 to 4285) AUTHORS Barber,T.D., McManus,K., Yuen,K.W., Reis,M., Parmigiani,G., Shen,D., Barrett,I., Nouhi,Y., Spencer,F., Markowitz,S., Velculescu,V.E., Kinzler,K.W., Vogelstein,B., Lengauer,C. and Hieter,P. TITLE Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers JOURNAL Proc. Natl. Acad. Sci. U.S.A. 105 (9), 3443-3448 (2008) PUBMED 18299561 REMARK GeneRIF: identified as one of five genes containing 11 somatic mutations in a panel that included 132 colorectal cancers, then demonstrated that down-regulation of such homologs resulted in chromosomal instability and chromatid cohesion defects in human cells REFERENCE 5 (bases 1 to 4285) AUTHORS Prieto,I., Pezzi,N., Buesa,J.M., Kremer,L., Barthelemy,I., Carreiro,C., Roncal,F., Martinez,A., Gomez,L., Fernandez,R., Martinez-A,C. and Barbero,J.L. TITLE STAG2 and Rad21 mammalian mitotic cohesins are implicated in meiosis JOURNAL EMBO Rep. 3 (6), 543-550 (2002) PUBMED 12034751 REFERENCE 6 (bases 1 to 4285) AUTHORS Pezzi,N., Prieto,I., Kremer,L., Perez Jurado,L.A., Valero,C., Del Mazo,J., Martinez-A,C. and Barbero,J.L. TITLE STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion JOURNAL FASEB J. 14 (3), 581-592 (2000) PUBMED 10698974 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BG772730.1, BC047490.1, BC028684.1, AJ007798.2 and AL833816.1. On Jan 15, 2005 this sequence version replaced gi:6912685. ##Evidence-Data-START## Transcript exon combination :: BC146806.1, AK292394.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-8 BG772730.1 22-29 9-2011 BC047490.1 1-2003 2012-3693 BC028684.1 1999-3680 3694-4030 BC047490.1 3687-4023 4031-4198 AJ007798.2 4123-4290 4199-4285 AL833816.1 3580-3666 FEATURES Location/Qualifiers source 1..4285 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7q22.1" gene 1..4285 /gene="STAG3" /note="stromal antigen 3" /db_xref="GeneID:10734" /db_xref="HGNC:11356" /db_xref="MIM:608489" exon 1..91 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 92..271 /gene="STAG3" /inference="alignment:Splign:1.39.8" CDS 156..3833 /gene="STAG3" /note="stromalin 3; SCC3 homolog 3; stromalin-3" /codon_start=1 /product="cohesin subunit SA-3" /protein_id="NP_036579.2" /db_xref="GI:57863310" /db_xref="CCDS:CCDS34703.1" /db_xref="GeneID:10734" /db_xref="HGNC:11356" /db_xref="MIM:608489" /translation="
MSSPLQRAVGDTKRALSASSSSSASLPFDDRDSNHTSEGNGDSLLADEDTDFEDSLNRNVKKRAAKRPPKTTPVAKHPKKGSRVVHRHSRKQSEPPANDLFNAVKAAKSDMQSLVDEWLDSYKQDQDAGFLELVNFFIQSCGCKGIVTPEMFKKMSNSEIIQHLTEQFNEDSGDYPLIAPGPSWKKFQGSFCEFVRTLVCQCQYSLLYDGFPMDDLISLLTGLSDSQVRAFRHTSTLAAMKLMTSLVKVALQLSVHQDNNQRQYEAERNKGPGQRAPERLESLLEKRKELQEHQEEIEGMMNALFRGVFVHRYRDVLPEIRAICIEEIGCWMQSYSTSFLTDSYLKYIGWTLHDKHREVRLKCVKALKGLYGNRDLTTRLELFTSRFKDRMVSMVMDREYDVAVEAVRLLILILKNMEGVLTDADCESVYPVVYASHRGLASAAGEFLYWKLFYPECEIRMMGGREQRQSPGAQRTFFQLLLSFFVESELHDHAAYLVDSLWDCAGARLKDWEGLTSLLLEKDQNLGDVQESTLIEILVSSARQASEGHPPVGRVTGRKGLTSKERKTQADDRVKLTEHLIPLLPQLLAKFSADAEKVTPLLQLLSCFDLHIYCTGRLEKHLELFLQQLQEVVVKHAEPAVLEAGAHALYLLCNPEFTFFSRADFARSQLVDLLTDRFQQELEELLQSSFLDEDEVYNLAATLKRLSAFYNTHDLTRWELYEPCCQLLQKAVDTGEVPHQVILPALTLVYFSILWTLTHISKSDASQKQLSSLRDRMVAFCELCQSCLSDVDTEIQEQAFVLLSDLLLIFSPQMIVGGRDFLRPLVFFPEATLQSELASFLMDHVFIQPGDLGSGDSQEDHLQIERLHQRRRLLAGFCKLLLYGVLEMDAASDVFKHYNKFYNDYGDIIKETLTRARQIDRSHCSRILLLSLKQLYTELLQEHGPQGLNELPAFIEMRDLARRFALSFGPQQLQNRDLVVMLHKEGIQFSLSELPPAGSSNQPPNLAFLELLSEFSPRLFHQDKQLLLSYLEKCLQHVSQAPGHPWGPVTTYCHSLSPVENTAETSPQVLPSSKRRRVEGPAKPNREDVSSSQEESLQLNSIPPTPTLTSTAVKSRQPLWGLKEMEEEDGSELDFAQGQPVAGTERSRFLGPQYFQTPHNPSGPGLGNQLMRLSLMEEDEEEELEIQDESNEERQDTDMQASSYSSTSERGLDLLDSTELDIEDF
" misc_feature 663..983 /gene="STAG3" /note="STAG domain; Region: STAG; pfam08514" /db_xref="CDD:117091" exon 272..374 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 375..491 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 492..588 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 589..665 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 666..870 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 871..1022 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 1023..1096 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 1097..1220 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 1221..1319 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 1320..1399 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 1400..1507 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 1508..1622 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 1623..1728 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 1729..1832 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 1833..1925 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 1926..2015 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 2016..2216 /gene="STAG3" /inference="alignment:Splign:1.39.8" STS 2102..2219 /gene="STAG3" /standard_name="A002N20" /db_xref="UniSTS:61640" exon 2217..2287 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 2288..2375 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 2376..2456 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 2457..2549 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 2550..2718 /gene="STAG3" /inference="alignment:Splign:1.39.8" variation complement(2600) /gene="STAG3" /replace="a" /replace="t" /db_xref="dbSNP:1043915" exon 2719..2855 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 2856..2957 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 2958..3106 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 3107..3235 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 3236..3393 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 3394..3568 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 3569..3670 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 3671..3752 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 3753..3824 /gene="STAG3" /inference="alignment:Splign:1.39.8" exon 3825..4205 /gene="STAG3" /inference="alignment:Splign:1.39.8" STS 3878..3995 /gene="STAG3" /standard_name="GDB:4585375" /db_xref="UniSTS:75200" STS 3948..4061 /gene="STAG3" /standard_name="RH92424" /db_xref="UniSTS:83635" polyA_signal 4180..4185 /gene="STAG3" polyA_site 4199 /gene="STAG3" /experiment="experimental evidence, no additional details recorded" polyA_site 4205 /gene="STAG3" ORIGIN
cgcgcttttctggaatctttcgcccccggaagggcagcggcgggcgcctgtgtggaaggtggggtggccagagacacccgagggacctgagctggatcgccatacctaccctgtggtcctcatcttcctggcctcatagctcctcctctccaagcatgtcttccccgttgcaaagagctgtgggagataccaagagggccttgtctgcatcttctagttcctctgccagtctaccctttgatgacagggactcaaaccatacctcagaggggaatggcgactctttgttagctgatgaagacactgactttgaagacagcttgaatcgcaatgtgaagaagagagcagcaaaacgaccaccgaaaacaacaccggtggcaaaacatccaaagaaagggtcccgagtggtacatcgtcatagccggaaacagtcagagccaccagccaatgatcttttcaatgctgtgaaagccgccaaaagtgacatgcagtctttggtagatgagtggctggatagctacaagcaagaccaggatgcaggatttctggagcttgttaactttttcatccaatcttgcggatgtaaaggcattgtgacccctgagatgttcaagaagatgtccaactcagagatcatccagcacctaacagagcagtttaatgaggactcgggggactaccctctcatagctccaggtccatcctggaagaagttccagggcagcttctgtgaatttgtgaggacattggtctgtcagtgccagtacagcctcctctatgatggcttccctatggacgacctcatctccctgctcactggcctctcagactcacaagtccgcgccttccgtcacactagcaccctggctgctatgaaactgatgacctccctggtaaaagttgccctccaactgagtgtgcaccaagataacaatcagcgtcagtatgaggctgaaagaaacaaggggccagggcagagggcacctgagcggctggagagcctgttggagaaacgcaaagagctccaagagcatcaagaggagattgaggggatgatgaatgccctcttcaggggtgtctttgttcatcggtacagggatgtccttcctgagatccgtgctatctgcattgaggaaattgggtgttggatgcaaagctacagcacgtctttcctcaccgacagctatttaaaatatattggttggactctgcatgataagcaccgagaagtccgcctgaagtgtgtgaaggccctgaaagggctgtacggtaaccgggacctgaccacacgcctggagctcttcaccagccgcttcaaggaccggatggtttccatggtcatggacagagagtatgatgtggcagtggaggctgtcagattactgatacttatccttaagaacatggaaggggtgctgacggacgcggattgtgagagcgtctacccagttgtgtatgcctctcatcgaggcctggcctctgccgcaggcgaatttctgtactggaaactcttctaccctgagtgcgagataagaatgatgggtggaagagagcaacgccagagcccaggcgcccagaggactttcttccagcttctgctgtccttctttgtggagagcgagctccatgaccacgctgcttacttagtagacagtctgtgggactgtgcaggggctcggctgaaggactgggagggtctgacaagcctgctgctggagaaggaccagaacctgggtgatgtgcaggagagcacactgatagaaatccttgtgtccagtgcccggcaagcttcagaggggcacccgcctgtgggccgggtcactgggaggaagggcttaacctctaaggagcgcaagacccaagccgatgacagggtgaagttgactgagcacctcatccccctgctgccccagctcctggccaagttctcagctgatgcagagaaggtcactcccctgctccagcttctcagctgctttgacctccacatctactgcactgggcgcttggagaagcacctggagctgttcctgcagcaactccaggaggtggtggtgaagcatgcagagccagcggtgcttgaggctggggcgcatgccctctacctgctctgtaatcccgaattcactttcttcagccgggcggactttgcccgcagccagctagtagatttgctgactgaccgcttccagcaggagcttgaagagctgttacagtcgtccttcctagatgaggatgaggtatataatctggcagccactctgaaacgcctctctgccttctacaacactcatgacctgactcgctgggagctctatgagccatgttgccaactcctgcagaaggctgtggacacaggagaggttcctcaccaggttatcctgccagccttgactcttgtctatttttccattctctggacactaacccacatttctaaatcagatgcttcccagaagcagctgtcgagtttgagggacagaatggtggccttctgtgaactctgccagagttgcctctcagatgtggatactgagatccaggagcaggcttttgtcttattaagtgatctacttctcatctttagccctcagatgattgttgggggccgtgatttccttaggccacttgtcttttttcctgaagctactctccagtctgagctagccagcttcctcatggaccacgtcttcatccagccgggagacctgggcagtggtgattcccaggaggatcatttacagatagagcggctacaccagcggcgccgcctcctagccgggttctgcaagctgttgctttatggggtgctggagatggatgcagcctcagatgttttcaaacactacaacaagttctacaatgactatggtgacattatcaaggaaacattaactagagcaaggcagattgaccgaagtcattgttcccgaatcctgctgctgagcctcaagcagctgtacacagaactgctgcaggagcatgggccccagggcctgaatgagcttcctgccttcatcgagatgagggacctggcccggaggtttgccttgagttttggaccccagcagctgcagaaccgtgacctcgtggtcatgctacacaaggaaggcatccagttctccttgtctgagcttcctccagctggctcctccaatcagcctccaaatctggcattcctggagctcctttcagagttttccccccgactcttccatcaggacaagcagcttttactgtcctatctagaaaagtgcctgcagcatgtctcccaggcacctggccatccctggggcccagtcaccacctactgccactccctcagccctgtggagaacacagcagagaccagccctcaggtcctccccagctccaagaggaggcgcgttgaagggcctgccaagcctaacagagaggacgtctcctcgtcccaggaagaaagtctgcagctgaacagcatcccgcccacgcccaccctcacctccacagctgtgaagagcaggcagcccctgtgggggttgaaagagatggaggaagaagatggctcagagttggattttgcccagggtcagcccgtcgcaggcaccgagaggtcaaggttcttgggtccacaatatttccagactccacacaacccttcaggtcctggcctgggcaaccagctgatgcgactcagccttatggaagaggacgaggaagaagagttagaaatccaggatgagtcaaatgaagaacggcaggatacagacatgcaagcaagtagctactcttccaccagtgagcgcgggctggacctcttagattctacagagctggatattgaggatttctgacaggactctgggcccctccccagctccactccctacctcaagaatgtgaccatttggaaaaggcaaagagaaaaggagcaaaatgaagcattcccccaggcttcagccctgggctctgaggggaaagagttgggcattgtttttctaacctaacctttccctctggggtagagaagccgagagaccctgtcctccctaatgcactgtggcccagtccccttgcctttttcctgttctgtttggagtggagaagggcagcacctctgtgtttaatggaaatagcccatagtctcctggatttttggaacatctttctcagcctattttgtgtcctaatgattcgctcaataaacatgtttgaatccacacgttaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10734 -> Biological process: GO:0007059 [chromosome segregation] evidence: IEA GeneID:10734 -> Biological process: GO:0007130 [synaptonemal complex assembly] evidence: TAS GeneID:10734 -> Cellular component: GO:0000775 [chromosome, centromeric region] evidence: IEA GeneID:10734 -> Cellular component: GO:0000795 [synaptonemal complex] evidence: TAS GeneID:10734 -> Cellular component: GO:0005634 [nucleus] evidence: TAS GeneID:10734 -> Cellular component: GO:0030893 [meiotic cohesin complex] evidence: IDA
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