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Aliases for SGOL1 Gene

Aliases for SGOL1 Gene

  • Shugoshin-Like 1 (S. Pombe) 2 3
  • Sgo1 3 4 6
  • Serologically Defined Breast Cancer Antigen NY-BR-85 3 4
  • SGO 3 6
  • Shugoshin 1AB Protein 3
  • Shugoshin 1CD Protein 3
  • Shugoshin 1EF Protein 3
  • Shugoshin 1GH Protein 3
  • Shugoshin 1KL Protein 3
  • Shugoshin-Like 1 3
  • NY-BR-85 3
  • HSgo1 4
  • CAID 3

External Ids for SGOL1 Gene

Summaries for SGOL1 Gene

Entrez Gene Summary for SGOL1 Gene

  • 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]

GeneCards Summary for SGOL1 Gene

SGOL1 (Shugoshin-Like 1 (S. Pombe)) is a Protein Coding gene. Diseases associated with SGOL1 include chronic atrial and intestinal dysrhythmia and breast cancer. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot for SGOL1 Gene

  • 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.

Gene Wiki entry for SGOL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGOL1 Gene

Genomics for SGOL1 Gene

Genomic Location for SGOL1 Gene

Start:
20,160,593 bp from pter
End:
20,186,292 bp from pter
Size:
25,700 bases
Orientation:
Minus strand

Genomic View for SGOL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SGOL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGOL1 Gene

Regulatory Elements for SGOL1 Gene

Proteins for SGOL1 Gene

  • Protein details for SGOL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5FBB7-SGOL1_HUMAN
    Recommended name:
    Shugoshin-like 1
    Protein Accession:
    Q5FBB7
    Secondary Accessions:
    • Q588H5
    • Q5FBB4
    • Q5FBB5
    • Q5FBB6
    • Q5FBB8
    • Q8N579
    • Q8WVL0
    • Q9BVA8
    • Q9H275

    Protein attributes for SGOL1 Gene

    Size:
    561 amino acids
    Molecular mass:
    64190 Da
    Quaternary structure:
    • 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.
    Miscellaneous:
    • Shugoshin is Japanese for guardian spirit (as it is known to be a protector of centromeric cohesin)
    SequenceCaution:
    • Sequence=AAH01339.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH32696.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SGOL1 Gene

    Alternative splice isoforms for SGOL1 Gene

neXtProt entry for SGOL1 Gene

Proteomics data for SGOL1 Gene at MOPED

Post-translational modifications for SGOL1 Gene

  • 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.
  • Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys454

No data available for DME Specific Peptides for SGOL1 Gene

Domains for SGOL1 Gene

Protein Domains for SGOL1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SGOL1_HUMAN
Domain:
  • The KEN box and D-box 3 are required for its ubiquitination and degradation.:
    • Q5FBB7
Family:
  • Belongs to the shugoshin family.:
    • Q5FBB7
genes like me logo Genes that share domains with SGOL1: view

No data available for Gene Families for SGOL1 Gene

Function for SGOL1 Gene

Molecular function for SGOL1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SGOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16541025
GO:0019900 kinase binding IDA 18331714
genes like me logo Genes that share ontologies with SGOL1: view
genes like me logo Genes that share phenotypes with SGOL1: view

miRNA for SGOL1 Gene

miRTarBase miRNAs that target SGOL1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SGOL1 Gene

Localization for SGOL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGOL1 Gene

Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, 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. Colocalizes 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGOL1 Gene COMPARTMENTS Subcellular localization image for SGOL1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for SGOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IDA 16682347
GO:0000776 colocalizes_with kinetochore IDA 16582621
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000779 condensed chromosome, centromeric region IDA 19465021
GO:0000780 condensed nuclear chromosome, centromeric region IEA --
genes like me logo Genes that share ontologies with SGOL1: view

Pathways for SGOL1 Gene

genes like me logo Genes that share pathways with SGOL1: view

Pathways by source for SGOL1 Gene

1 KEGG pathway for SGOL1 Gene

Gene Ontology (GO) - Biological Process for SGOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0007059 chromosome segregation IDA 16580887
GO:0007067 mitotic nuclear division IEA --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0008608 attachment of spindle microtubules to kinetochore IDA 17621308
genes like me logo Genes that share ontologies with SGOL1: view

Transcripts for SGOL1 Gene

Unigene Clusters for SGOL1 Gene

Shugoshin-like 1 (S. pombe):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SGOL1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10
SP1: - - - - - -
SP2: - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - -
SP6: -
SP7:
SP8: -
SP9: -
SP10:

Relevant External Links for SGOL1 Gene

GeneLoc Exon Structure for
SGOL1
ECgene alternative splicing isoforms for
SGOL1

Expression for SGOL1 Gene

mRNA expression in normal human tissues for SGOL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SGOL1 Gene

This gene is overexpressed in Testis (6.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SGOL1 Gene

SOURCE GeneReport for Unigene cluster for SGOL1 Gene Hs.105153

mRNA Expression by UniProt/SwissProt for SGOL1 Gene

Q5FBB7-SGOL1_HUMAN
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.
genes like me logo Genes that share expressions with SGOL1: view

Orthologs for SGOL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SGOL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGOL1 36
  • 99.24 (n)
  • 97.72 (a)
SGOL1 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SGOL1 37
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGOL1 36
  • 84.86 (n)
  • 73.85 (a)
SGOL1 37
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgol1 36
  • 71.96 (n)
  • 55.04 (a)
Sgol1 16
Sgol1 37
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGOL1 37
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGOL1 37
  • 42 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgol1 36
  • 70.09 (n)
  • 56.52 (a)
chicken
(Gallus gallus)
Aves SGOL1 36
  • 50.51 (n)
  • 39.6 (a)
SGOL1 37
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGOL1 37
  • 33 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SGOL1 37
  • 22 (a)
OneToOne
Species with no ortholog for SGOL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SGOL1 Gene

ENSEMBL:
Gene Tree for SGOL1 (if available)
TreeFam:
Gene Tree for SGOL1 (if available)

Paralogs for SGOL1 Gene

Pseudogenes.org Pseudogenes for SGOL1 Gene

genes like me logo Genes that share paralogs with SGOL1: view

No data available for Paralogs for SGOL1 Gene

Variants for SGOL1 Gene

Sequence variations from dbSNP and Humsavar for SGOL1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs955011 -- 20,161,934(+) attat(A/G)attcc intron-variant
rs1052930 -- 20,170,697(-) GGTTT(C/T)GTTGG utr-variant-3-prime, intron-variant
rs1995722 -- 20,187,278(+) TGAGT(A/G)TCTGC upstream-variant-2KB
rs2174843 -- 20,162,087(-) TACAT(C/T)TGCGG intron-variant
rs3062282 -- 20,161,393(+) TCAGA(-/ATTAGA)GTGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SGOL1 Gene

Variant ID Type Subtype PubMed ID
esv23068 CNV Gain+Loss 19812545
esv35078 CNV Gain 17911159
nsv834627 CNV Loss 17160897
nsv433359 CNV Gain 18776910
nsv470450 CNV Loss 18288195
esv2422249 CNV Deletion 17116639
nsv876597 CNV Loss 21882294

Relevant External Links for SGOL1 Gene

HapMap Linkage Disequilibrium report
SGOL1
Human Gene Mutation Database (HGMD)
SGOL1

Disorders for SGOL1 Gene

UniProtKB/Swiss-Prot

SGOL1_HUMAN
  • Chronic atrial and intestinal dysrhythmia (CAID) [MIM:616201]: A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle. {ECO:0000269 PubMed:25282101}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SGOL1 Gene

Relevant External Links for SGOL1

Genetic Association Database (GAD)
SGOL1
Human Genome Epidemiology (HuGE) Navigator
SGOL1
genes like me logo Genes that share disorders with SGOL1: view

Publications for SGOL1 Gene

  1. PP2A is required for centromeric localization of Sgo1 and proper chromosome segregation. (PMID: 16580887) Tang Z. … Yu H. (Dev. Cell 2006) 3 4 23
  2. Differential subcellular localizations of two human Sgo1 isoforms: implications in regulation of sister chromatid cohesion and microtubule dynamics. (PMID: 16582621) Wang X. … Dai W. (Cell Cycle 2006) 3 4 23
  3. Human Bub1 protects centromeric sister-chromatid cohesion through Shugoshin during mitosis. (PMID: 15604152) Tang Z. … Yu H. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 23
  4. Multiple anaphase-promoting complex/cyclosome degrons mediate the degradation of human Sgo1. (PMID: 19015261) Karamysheva Z. … Yu H. (J. Biol. Chem. 2009) 3 4 23
  5. Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression. (PMID: 12747765) Scanlan M.J. … Old L.J. (Cancer Immun. 2001) 2 3 4

Products for SGOL1 Gene

Sources for SGOL1 Gene

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