Human Gene SGO1 (uc003cbr.3)
  Description: Homo sapiens shugoshin-like 1 (S. pombe) (SGO1), transcript variant C4, mRNA.
RefSeq Summary (NM_001199256): The protein encoded by this gene is a member of the shugoshin family of proteins. This protein is thought to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression of this gene leads to the premature loss of centromeric cohesion, mis-segregation of sister chromatids, and mitotic arrest. Evidence suggests that this protein also protects a small subset of cohesin found along the length of the chromosome arms during mitotic prophase. An isoform lacking exon 6 has been shown to play a role in the cohesion of centrioles (PMID: 16582621 and PMID:18331714). Mutations in this gene have been associated with Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life (PMID:25282101). Fibroblast cells from CAID patients exhibited both increased cell proliferation and higher rates of senescence. Pseudogenes of this gene have been found on chromosomes 1 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015].
Transcript (Including UTRs)
   Position: hg19 chr3:20,202,085-20,227,724 Size: 25,640 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr3:20,202,597-20,225,519 Size: 22,923 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersMalaCardsGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:20,202,085-20,227,724)mRNA (may differ from genome)Protein (292 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsH-INVLynx
MalacardsMGIOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -112.90292-0.387 Picture PostScript Text
3' UTR -111.05512-0.217 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
  Pfam Domains:
PF07557 - Shugoshin C terminus
PF07558 - Shugoshin N-terminal coiled-coil region

ModBase Predicted Comparative 3D Structure on Q5FBB7-3
FrontTopSide
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 Details     
Gene Sorter     
      
      
      

-  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
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04114 - Oocyte meiosis

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: NM_001199256, NP_612493, Q5FBB7-3, SGOL1
UCSC ID: uc003cbr.3
RefSeq Accession: NM_001199256
Protein: Q5FBB7-3, splice isoform of Q5FBB7 CCDS: CCDS2635.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001199256.1
exon count: 8CDS single in 3' UTR: no RNA size: 1685
ORF size: 879CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1856.00frame shift in genome: no % Coverage: 99.88
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.