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2024-04-19 04:06:00, 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
//
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
by
@meso_cacase at
DBCLS
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