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2025-05-09 19:48:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199257 1454 bp mRNA linear PRI 14-APR-2013
DEFINITION Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript
variant D1, mRNA.
ACCESSION NM_001199257
VERSION NM_001199257.1 GI:312922344
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 1454)
AUTHORS Greenwood,T.A., Akiskal,H.S., Akiskal,K.K. and Kelsoe,J.R.
CONSRTM Bipolar Genome Study
TITLE Genome-wide association study of temperament in bipolar disorder
reveals significant associations with three novel Loci
JOURNAL Biol. Psychiatry 72 (4), 303-310 (2012)
PUBMED 22365631
REFERENCE 2 (bases 1 to 1454)
AUTHORS Liu,L., Zhang,N., Liu,J., Min,J., Ma,N., Liu,N., Liu,Y. and
Zhang,H.
TITLE Lentivirus-mediated siRNA interference targeting SGO-1 inhibits
human NSCLC cell growth
JOURNAL Tumour Biol. 33 (2), 515-521 (2012)
PUBMED 22161216
REMARK GeneRIF: Lentivirus-mediated siRNA interference targeting SGO-1
inhibits human NSCLC cell growth
REFERENCE 3 (bases 1 to 1454)
AUTHORS Kahyo,T., Iwaizumi,M., Shinmura,K., Matsuura,S., Nakamura,T.,
Watanabe,Y., Yamada,H. and Sugimura,H.
TITLE A novel tumor-derived SGOL1 variant causes abnormal mitosis and
unstable chromatid cohesion
JOURNAL Oncogene 30 (44), 4453-4463 (2011)
PUBMED 21532624
REMARK GeneRIF: These results suggest that SGOL1-P1 may function as a
negative factor to native SGOL1, and that abundant expression of
SGOL1-P1 may be responsible for chromosomal instability.
REFERENCE 4 (bases 1 to 1454)
AUTHORS Kang,J., Chaudhary,J., Dong,H., Kim,S., Brautigam,C.A. and Yu,H.
TITLE Mitotic centromeric targeting of HP1 and its binding to Sgo1 are
dispensable for sister-chromatid cohesion in human cells
JOURNAL Mol. Biol. Cell 22 (8), 1181-1190 (2011)
PUBMED 21346195
REMARK GeneRIF: HP1alpha binding by INCENP or Shugoshin 1 (Sgo1) is
dispensable for centromeric cohesion protection during mitosis of
human cells, but might regulate yet unknown interphase functions of
the chromosome passenger complex (CPC) or Sgo1 at the centromeres.
REFERENCE 5 (bases 1 to 1454)
AUTHORS Okamoto,N., Kuwahara,K., Ohta,K., Kitabatake,M., Takagi,K.,
Mizuta,H., Kondo,E. and Sakaguchi,N.
TITLE Germinal center-associated nuclear protein (GANP) is involved in
mRNA export of Shugoshin-1 required for centromere cohesion and in
sister-chromatid exchange
JOURNAL Genes Cells 15 (5), 471-484 (2010)
PUBMED 20384790
REMARK GeneRIF: Data show that human germinal center-associated nuclear
protein (GANP) is critically involved in cell proliferation at the
mitotic phase through its selective support of shugoshin-1 mRNA
export.
REFERENCE 6 (bases 1 to 1454)
AUTHORS Wang,X. and Dai,W.
TITLE Shugoshin, a guardian for sister chromatid segregation
JOURNAL Exp. Cell Res. 310 (1), 1-9 (2005)
PUBMED 16112668
REMARK GeneRIF: A comprehensive review of Sgo1 function in eukaryote at
meiosis and mitosis.
Review article
REFERENCE 7 (bases 1 to 1454)
AUTHORS McGuinness,B.E., Hirota,T., Kudo,N.R., Peters,J.M. and Nasmyth,K.
TITLE Shugoshin prevents dissociation of cohesin from centromeres during
mitosis in vertebrate cells
JOURNAL PLoS Biol. 3 (3), E86 (2005)
PUBMED 15737064
REMARK GeneRIF: A shugoshin-like protein associates with centromeres
during prophase and disappears at the onset of anaphase
REFERENCE 8 (bases 1 to 1454)
AUTHORS Kitajima,T.S., Hauf,S., Ohsugi,M., Yamamoto,T. and Watanabe,Y.
TITLE Human Bub1 defines the persistent cohesion site along the mitotic
chromosome by affecting Shugoshin localization
JOURNAL Curr. Biol. 15 (4), 353-359 (2005)
PUBMED 15723797
REFERENCE 9 (bases 1 to 1454)
AUTHORS Tang,Z., Sun,Y., Harley,S.E., Zou,H. and Yu,H.
TITLE Human Bub1 protects centromeric sister-chromatid cohesion through
Shugoshin during mitosis
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (52), 18012-18017 (2004)
PUBMED 15604152
REMARK GeneRIF: Bub1 protects centromeric cohesion through Shugoshin in
mitosis
REFERENCE 10 (bases 1 to 1454)
AUTHORS Scanlan,M.J., Gout,I., Gordon,C.M., Williamson,B., Stockert,E.,
Gure,A.O., Jager,D., Chen,Y.T., Mackay,A., O'Hare,M.J. and Old,L.J.
TITLE Humoral immunity to human breast cancer: antigen definition and
quantitative analysis of mRNA expression
JOURNAL Cancer Immun. 1, 4 (2001)
PUBMED 12747765
REMARK Publication Status: Online-Only
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DB163747.1, AB193064.1 and AB187578.1.
Transcript Variant: This variant (D1) has an alternate 5' UTR exon
and lacks an in-frame internal segment, as compared to variant A2.
The resulting isoform (D1, also known as 1J) lacks an internal
segment, as compared to isoform A2.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AB193064.1 [ECO:0000332]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-105 DB163747.1 1-105
106-1036 AB193064.1 1-931
1037-1454 AB187578.1 1923-2340
FEATURES Location/Qualifiers
source 1..1454
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p24.3"
gene 1..1454
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/note="shugoshin-like 1 (S. pombe)"
/db_xref="GeneID:151648"
/db_xref="HGNC:25088"
/db_xref="MIM:609168"
exon 1..285
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/inference="alignment:Splign:1.39.8"
variation complement(30)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="t"
/db_xref="dbSNP:145702873"
variation complement(62)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="g"
/replace="t"
/db_xref="dbSNP:370108487"
variation complement(71)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375306760"
variation complement(79)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:140520229"
variation complement(86)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151299371"
variation complement(208)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="c"
/db_xref="dbSNP:367619352"
variation complement(230)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="g"
/db_xref="dbSNP:373672736"
variation complement(245)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:185204088"
misc_feature 275..277
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/note="upstream in-frame stop codon"
variation complement(279)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372239899"
exon 286..434
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/inference="alignment:Splign:1.39.8"
CDS 293..940
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/note="isoform D1 is encoded by transcript variant D1;
shugoshin 1AB protein; shugoshin 1CD protein; shugoshin
1EF protein; shugoshin 1GH protein; shugoshin 1KL protein;
hSgo1; serologically defined breast cancer antigen
NY-BR-85"
/codon_start=1
/product="shugoshin-like 1 isoform D1"
/protein_id="NP_001186186.1"
/db_xref="GI:312922345"
/db_xref="CCDS:CCDS56243.1"
/db_xref="GeneID:151648"
/db_xref="HGNC:25088"
/db_xref="MIM:609168"
/translation="
MAKERCLKKSFQDSLEDIKKRMKEKRNKNLAEIGKRRSFIAAPCQIITNTSTLLKNYQDNNKMLVLALENEKSKVKEAQDIILQLRKECYYLTCQLYALKGKLTSQQTVEPAQNQEICSSGMDPNSDDSSRNLFVKDLPQIPLEETELPGQGESFQIEDQIPTIPQDTLGVDFDSGALEVSPAKEAIFILYYVREFVSRFPDCRKCKLETHICLR
"
misc_feature 293..820
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q5FBB7.1);
Region: Necessary for interaction with PPP2CA and PPP2R1A"
misc_feature 332..334
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by NEK2; propagated from
UniProtKB/Swiss-Prot (Q5FBB7.1); phosphorylation site"
misc_feature 356..493
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/note="Shugoshin N-terminal coiled-coil region; Region:
Shugoshin_N; pfam07558"
/db_xref="CDD:203682"
variation complement(322)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="c"
/db_xref="dbSNP:143768051"
variation complement(354)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374022493"
variation complement(359)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199815268"
variation complement(383)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="g"
/replace="t"
/db_xref="dbSNP:140691683"
variation complement(385)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202081733"
variation complement(391)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:113892853"
variation complement(398)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377471833"
variation complement(406)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="g"
/replace="t"
/db_xref="dbSNP:143576733"
variation complement(419)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145234403"
variation complement(428)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150552043"
exon 435..631
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/inference="alignment:Splign:1.39.8"
variation complement(453)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="t"
/db_xref="dbSNP:192601368"
variation complement(466)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200787365"
variation complement(482)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:189746950"
variation complement(530)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="g"
/db_xref="dbSNP:145242036"
variation complement(534)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201174493"
variation complement(582)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202028804"
variation complement(604)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="c"
/db_xref="dbSNP:369840848"
variation complement(616)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375511922"
variation complement(626)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:183736430"
exon 632..708
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/inference="alignment:Splign:1.39.8"
variation complement(657)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148317477"
variation complement(705)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147441982"
exon 709..767
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/inference="alignment:Splign:1.39.8"
exon 768..818
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/inference="alignment:Splign:1.39.8"
variation complement(796)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="t"
/db_xref="dbSNP:61729306"
variation complement(804)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:6806241"
exon 819..1452
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/inference="alignment:Splign:1.39.8"
variation complement(822)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199603756"
variation complement(827)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369926768"
variation complement(873)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="g"
/db_xref="dbSNP:368430426"
variation complement(886)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151004231"
variation complement(891)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200770059"
variation complement(899)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148485165"
variation complement(900)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375535687"
variation complement(921)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139865348"
variation complement(940..942)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace=""
/replace="aag"
/db_xref="dbSNP:147648109"
variation complement(957)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368161123"
variation complement(966..967)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace=""
/replace="tt"
/db_xref="dbSNP:200745858"
variation complement(984)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374709212"
variation complement(985)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370945018"
variation complement(1013)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:191550560"
variation complement(1033)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="g"
/db_xref="dbSNP:185656328"
variation complement(1294)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140309229"
variation complement(1308)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138585609"
variation complement(1328)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="g"
/db_xref="dbSNP:182471636"
variation complement(1354)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="a"
/replace="t"
/db_xref="dbSNP:189655218"
variation complement(1425)
/gene="SGOL1"
/gene_synonym="NY-BR-85; SGO; Sgo1"
/replace="c"
/replace="g"
/db_xref="dbSNP:150147188"
ORIGIN
aatggaggagcgaggcggaaaatttcgaatgtggcggcggtagttccaggcgacggcggacggtggtacggtcctggagggcccagtgcgcggggctagccgtggctggagagcttcgaagagccttgaaatgtgaggaggaggaagatagctgttgcagaagtagtggccaaggtatcgttctggacgcgcctgcggcaggagggtcgccgcgtccacttccgccagccccacctccccccggccttcctggagtccctgaaagaggaagaagtaggttttaaggcaaaagatggccaaggaaagatgcctgaaaaagtcctttcaagatagtcttgaagacataaagaagcgaatgaaagagaaaaggaataaaaacttggcagagattggcaaacgcaggtcttttatagctgcaccatgccaaataatcaccaacacttctacactgctgaaaaattaccaagacaacaacaaaatgttagttttagctttggaaaatgaaaaatccaaagtgaaagaagcccaagatatcatcctacagctgagaaaagaatgttactatctcacatgtcagctatatgcattgaaaggaaaacttacatcacaacaaacagtagaacctgctcagaaccaggaaatatgttcctctggaatggaccccaatagtgatgacagctccagaaatttatttgtgaaggatttaccgcaaattcctcttgaagaaactgaacttccaggacaaggagaatcatttcaaatagaagatcagatacctactattcctcaagacacactgggagttgattttgattcaggagccctggaggtatcacctgccaaagaagcaatttttattttatattatgttcgagaatttgtttcgagattcccagactgtaggaaatgtaaacttgaaacccacatctgcttgaggtaaagtccacgggcttcacatccttagaaaacttttttagtccatgcattcactaatgtatgcagacctttaatagattctagctttatgtgttgggggagagatggaggggtgttgacagtctgtttcactcagcctacatacataataaaatctaagccctttaattagagatagcaactttcccagggtgaccgaggaatcagtacgtgttgaacccctcttttaagtttccttttggttgtgtcacttggagattgccttttctttcttgtaagctcagctgtgtcctcaaatatattgcattttacccagcatttccaggtgttttcaggggtcaaagtttttaagttatcttagtctttgatattgtgtaagcgaaattctccaatcccatctcctagatgatttttttttaaatcacaaaatgtgattatgcttaacagctgtttcctgtttctcttaaaataaaatccatttcctatttctcttaaaataaaatccattattcttaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:151648 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:151648 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:151648 -> Biological process: GO:0007059 [chromosome segregation] evidence: IDA
GeneID:151648 -> Biological process: GO:0007067 [mitosis] evidence: IEA
GeneID:151648 -> Biological process: GO:0008608 [attachment of spindle microtubules to kinetochore] evidence: IDA
GeneID:151648 -> Biological process: GO:0010457 [centriole-centriole cohesion] evidence: IDA
GeneID:151648 -> Biological process: GO:0045132 [meiotic chromosome segregation] evidence: IEA
GeneID:151648 -> Biological process: GO:0051301 [cell division] evidence: IEA
GeneID:151648 -> Cellular component: GO:0000775 [chromosome, centromeric region] evidence: IDA
GeneID:151648 -> Cellular component: GO:0000776 [kinetochore] evidence: IDA
GeneID:151648 -> Cellular component: GO:0000777 [condensed chromosome kinetochore] evidence: IEA
GeneID:151648 -> Cellular component: GO:0000779 [condensed chromosome, centromeric region] evidence: IDA
GeneID:151648 -> Cellular component: GO:0000780 [condensed nuclear chromosome, centromeric region] evidence: IEA
GeneID:151648 -> Cellular component: GO:0000922 [spindle pole] evidence: IDA
GeneID:151648 -> Cellular component: GO:0005813 [centrosome] evidence: IDA
GeneID:151648 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:151648 -> Cellular component: GO:0030892 [mitotic cohesin complex] evidence: IDA
by
@meso_cacase at
DBCLS
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