Human Gene SGO1 (ENST00000263753.8_9) from GENCODE V47lift37
  Description: shugoshin 1, transcript variant Sgo1E (from RefSeq NM_001199252.3)
Gencode Transcript: ENST00000263753.8_9
Gencode Gene: ENSG00000129810.15_16
Transcript (Including UTRs)
   Position: hg19 chr3:20,202,085-20,227,683 Size: 25,599 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr3:20,202,597-20,225,519 Size: 22,923 Coding Exon Count: 8 

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RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:20,202,085-20,227,683)mRNA (may differ from genome)Protein (561 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SGOL1_HUMAN
DESCRIPTION: RecName: Full=Shugoshin-like 1; Short=hSgo1; AltName: Full=Serologically defined breast cancer antigen NY-BR-85;
FUNCTION: Plays a central role in chromosome cohesion during mitosis by preventing premature dissociation of cohesin complex from centromeres after prophase, when most of cohesin complex dissociates from chromosomes arms. May act by preventing phosphorylation of the STAG2 subunit of cohesin complex at the centromere, ensuring cohesin persistence at centromere until cohesin cleavage by ESPL1/separase at anaphase. Essential for proper chromosome segregation during mitosis and this function requires interaction with PPP2R1A. Its phosphorylated form is necessary for chromosome congression and for the proper attachment of spindle microtubule to the kinetochore. Necessary for kinetochore localization of PLK1 and CENPF. May play a role in the tension sensing mechanism of the spindle-assembly checkpoint by regulating PLK1 kinetochore affinity. Isoform 3 plays a role in maintaining centriole cohesion involved in controlling spindle pole integrity.
SUBUNIT: Interacts with PPP2CA (or PPP2CB), PPP2R1B, PPP2R5A, PPP2R5B, PPP2R5C, PPP2R5D, PPP2R5E, SET, LRRC59, RBM10 (or RBM5), RPL10A, RPL28, RPL7, RPL7A and RPLP1. Interaction with protein phosphatase 2A occurs most probably through direct binding to the regulatory B56 subunits: PPP2R1B, PPP2R5A, PPP2R5B, PPP2R5C, PPP2R5D, PPP2R5E. Interacts with PPP2R1A and NEK2. Isoform 3 interacts with PLK1.
INTERACTION: Q15172:PPP2R5A; NbExp=3; IntAct=EBI-989069, EBI-641666;
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, centrosome. Note=Localizes to the inner centromere throughout prophase until metaphase and disappears at anaphase. During prometaphase, it localizes to a single focus, while at metaphase, it localizes to 2 spots corresponding to the 2 centromeres. Centromeric localization requires the presence of BUB1 and the interaction with PPP2R1A. Localizes to the inner kinetochore from prophase to early metaphase. Co-localizes with NEK2 and SS18L1 at the kinetochore. Phosphorylation by AUKRB and the presence of BUB1 are required for localization to the kinetochore. Isoform 1 primarily localizes to kinetochores during G2 phase and mitotic prophase, metaphase, and anaphase and does not appear to be associated with kinetochores during late mitosis. Isoform 3 is found at the centrosome in interphase and at spindle poles in mitosis and its spindle pole localization is PLK1 dependent. Isoform 3 does not localize to kinetochores during any stages of the cell cycle.
TISSUE SPECIFICITY: Widely expressed. Highly expressed in testis. Expressed in lung, small intestine, breast, liver and placenta. Strongly overexpressed in 90% of breast cancers tested.
DEVELOPMENTAL STAGE: Appears in prophase cells and remains present until metaphase. Strongly decreases at the onset of anaphase and completely disappears at telophase. Not present in interphase cells (at protein level).
DOMAIN: The KEN box and D-box 3 are required for its ubiquitination and degradation.
PTM: Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1.
PTM: Phosphorylation by NEK2 is essential for chromosome congression in mitosis and for the proper attachment of spindle microtubule to the kinetochore. Phosphorylated by PLK1 and AUKRB.
MISCELLANEOUS: Shugoshin is Japanese for guardian spirit (as it is known to be a protector of centromeric cohesin).
SIMILARITY: Belongs to the shugoshin family.
SEQUENCE CAUTION: Sequence=AAH01339.2; Type=Erroneous initiation; Sequence=AAH32696.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SGO1
Diseases sorted by gene-association score: chronic atrial and intestinal dysrhythmia* (1599), intestinal pseudo-obstruction (21), sick sinus syndrome (15), intestinal obstruction (6)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.04 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 13.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.50140-0.325 Picture PostScript Text
3' UTR -102.10512-0.199 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011515 - Shugoshin_C
IPR011516 - Shugoshin_N

Pfam Domains:
PF07557 - Shugoshin C terminus
PF07558 - Shugoshin N-terminal coiled-coil region

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3FGA - X-ray 3Q6S - X-ray MuPIT 4A0I - X-ray


ModBase Predicted Comparative 3D Structure on Q5FBB7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019900 kinase binding

Biological Process:
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0008608 attachment of spindle microtubules to kinetochore
GO:0010457 centriole-centriole cohesion
GO:0045132 meiotic chromosome segregation
GO:0051301 cell division
GO:0071962 mitotic sister chromatid cohesion, centromeric

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0000779 condensed chromosome, centromeric region
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AB187578 - Homo sapiens SgoL1-A2 mRNA for shugoshin-like protein 1, transcript variant A2, complete cds.
AB187580 - Homo sapiens SgoL1-B2 mRNA for shugoshin-like protein 1, transcript variant B2, complete cds.
AB187582 - Homo sapiens SgoL1-C2 mRNA for shugoshin-like protein 1, transcript variant C2, complete cds.
BC017867 - Homo sapiens shugoshin-like 1 (S. pombe), mRNA (cDNA clone MGC:22640 IMAGE:4685140), complete cds.
JD354815 - Sequence 335839 from Patent EP1572962.
JD232541 - Sequence 213565 from Patent EP1572962.
JD234740 - Sequence 215764 from Patent EP1572962.
JD553353 - Sequence 534377 from Patent EP1572962.
AB193060 - Homo sapiens Sgo1 mRNA for shugoshin 1EF protein, complete cds.
AB193061 - Homo sapiens Sgo1 mRNA for shugoshin 1EF protein, complete cds.
AB193062 - Homo sapiens Sgo1 mRNA for shugoshin 1GH protein, complete cds.
AB193063 - Homo sapiens Sgo1 mRNA for shugoshin 1GH protein, complete cds.
AB193064 - Homo sapiens Sgo1 mRNA for shugoshin 1J protein, complete cds.
AB193065 - Homo sapiens Sgo1 mRNA for shugoshin 1KL protein, complete cds.
AB193066 - Homo sapiens Sgo1 mRNA for shugoshin 1KL protein, complete cds.
KJ895662 - Synthetic construct Homo sapiens clone ccsbBroadEn_05056 SGOL1 gene, encodes complete protein.
BX648516 - Homo sapiens mRNA; cDNA DKFZp686J0878 (from clone DKFZp686J0878).
BC032696 - Homo sapiens shugoshin-like 1 (S. pombe), mRNA (cDNA clone IMAGE:5416447), partial cds.
BC001339 - Homo sapiens shugoshin-like 1 (S. pombe), mRNA (cDNA clone IMAGE:3461987), partial cds.
AB190994 - Homo sapiens Sgo1 mRNA for shugoshin-like 1, complete cds.
AB187577 - Homo sapiens SgoL1-A1 mRNA for shugoshin-like protein 1, transcript variant A1, complete cds.
AB187579 - Homo sapiens SgoL1-B1 mRNA for shugoshin-like protein 1, transcript variant B1, complete cds.
AB187581 - Homo sapiens SgoL1-C1 mRNA for shugoshin-like protein 1, transcript variant C1, complete cds.
AB567656 - Homo sapiens SGOL1 mRNA for shugoshin-like 1 isoform P1, complete CDS, like variant C1.
AB567657 - Homo sapiens SGOL1 mRNA for shugoshin-like 1 isoform P1, complete CDS, like variant B1.
BC039605 - Homo sapiens shugoshin-like 1 (S. pombe), mRNA (cDNA clone IMAGE:3861301), partial cds.
AF308299 - Homo sapiens serologically defined breast cancer antigen NY-BR-85 mRNA, partial cds.
AB193056 - Homo sapiens Sgo1 mRNA for shugoshin 1AB protein, complete cds.
AB193057 - Homo sapiens Sgo1 mRNA for shugoshin 1AB protein, complete cds.
AB193058 - Homo sapiens Sgo1 mRNA for shugoshin 1CD protein, complete cds.
AB193059 - Homo sapiens Sgo1 mRNA for shugoshin 1CD protein, complete cds.
AB451340 - Homo sapiens SGOL1 mRNA for shugoshin-like 1 isoform A1, complete cds, clone: FLJ85508SAAN.
AB451489 - Homo sapiens SGOL1 mRNA for shugoshin-like 1 isoform A1, partial cds, clone: FLJ85508SAAF.
AK308095 - Homo sapiens cDNA, FLJ98043.
JD195460 - Sequence 176484 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5FBB7 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000263753.1, ENST00000263753.2, ENST00000263753.3, ENST00000263753.4, ENST00000263753.5, ENST00000263753.6, ENST00000263753.7, NM_001199252, Q588H5, Q5FBB4, Q5FBB5, Q5FBB6, Q5FBB7, Q5FBB8, Q8N579, Q8WVL0, Q9BVA8, Q9H275, SGO1 , SGO1_HUMAN, SGOL1, uc317hme.1, uc317hme.2
UCSC ID: ENST00000263753.8_9
RefSeq Accession: NM_001012410.5
Protein: Q5FBB7 (aka SGOL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.