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
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
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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.
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