Gene Gene information from NCBI Gene database.
Entrez ID 151648
Gene name Shugoshin 1
Gene symbol SGO1
Synonyms (NCBI Gene)
CAIDNY-BR-85SGOSGOL1
Chromosome 3
Chromosome location 3p24.3
Summary 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 g
miRNA miRNA information provided by mirtarbase database.
60
miRTarBase ID miRNA Experiments Reference
MIRT634348 hsa-miR-500b-3p HITS-CLIP 23824327
MIRT634347 hsa-miR-6741-3p HITS-CLIP 23824327
MIRT634346 hsa-miR-1307-3p HITS-CLIP 23824327
MIRT634345 hsa-miR-4638-5p HITS-CLIP 23824327
MIRT634344 hsa-miR-6773-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IDA 16682347, 24055156
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 16582621, 17621308
GO:0000776 Component Kinetochore IDA 17617734, 18331714, 24157919
GO:0000776 Component Kinetochore IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609168 25088 ENSG00000129810
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5FBB7
Protein name Shugoshin 1 (Serologically defined breast cancer antigen NY-BR-85) (Shugoshin-like 1)
Protein 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 phosphoryla
PDB 3FGA , 3Q6S , 4A0I , 7ZJS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07558 Shugoshin_N 22 66 Shugoshin N-terminal coiled-coil region Coiled-coil
PF07557 Shugoshin_C 474 496 Shugoshin C terminus Family
Tissue specificity 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. {ECO:0000269|PubMed:12747765}.
Sequence
MAKERCLKKSFQDSLEDIKKRMKEKRNKNLAEIGKRRSFIAAPCQIITNTSTLLKNYQDN
NKMLVL
ALENEKSKVKEAQDIILQLRKECYYLTCQLYALKGKLTSQQTVEPAQNQEICSS
GMDPNSDDSSRNLFVKDLPQIPLEETELPGQGESFQIEDQIPTIPQDTLGVDFDSGEAKS
TDNVLPRTVSVRSSLKKHCNSICQFDSLDDFETSHLAGKSFEFERVGFLDPLVNMHIPEN
VQHNACQWSKDQVNLSPKLIQPGTFTKTKEDILESKSEQTKSKQRDTQERKREEKRKANR
RKSKRMSKYKENKSENKKTVPQKKMHKSVSSNDAYNFNLEEGVHLTPFRQKVSNDSNREE
NNESEVSLCESSGSGDDSDDLYLPTCKYIQNPTSNSDRPVTRPLAKRALKYTDEKETEGS
KPTKTPTTTPPETQQSPHLSLKDITNVSLYPVVKIRRLSLSPKKNKASPAVALPKRRCTA
SVNYKEPTLASKLRRG
DPFTDLCFLNSPIFKQKKDLRRSKKRALEVSPAKEAIFILYYVR
EFVSRFPDCRKCKLETHICLR
Sequence length 561
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle
Oocyte meiosis
  Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiovascular phenotype Pathogenic rs199815268 RCV005404271
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic atrial and intestinal dysrhythmia Pathogenic rs199815268 RCV000150047
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SGO1-related disorder Pathogenic rs199815268 RCV004758652
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARRHYTHMIAS, CARDIAC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONOBIOLOGY DISORDERS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 32923148 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease BEFREE 30231670
★☆☆☆☆
Found in Text Mining only
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 29943428
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 29943428, 30231670
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 25736928, 35044816 Associate
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 30739867 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22161216, 23564482, 38077434 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25638162 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 22161216
★☆☆☆☆
Found in Text Mining only
Chronic atrial and intestinal dysrhythmia Atrial And Intestinal Dysrhythmia BEFREE 25282101, 25352100
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)