SGO1

Chr 3p24.3

shugoshin 1

Aliases:: NY-BR-85
MANE:: ENST00000412997.6

OMIM: 609168 ↗NCBI: 151648 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SGO1 · Q5FBB7

v62025-08-01

Predicted Aligned Error matrix for SGO1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

55.1/ 100

Low

561 residues

Confidence breakdown

Very high(≥ 90)11%
Confident(70–90)12%
Low(50–70)20%
Very low(< 50)58%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Paediatric pseudo-obstruction syndrome
BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

chronic atrial and intestinal dysrhythmia
0.55
Abnormality of the cardiovascular system
0.39
Abnormality of the skeletal system
0.32
osteoarthritis
0.32
obesity disorder
0.31
attention deficit-hyperactivity disorder
0.31
tooth disorder
0.25
nerve plexus disorder
0.24
asthma
0.24
smoking initiation
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Shugoshin 1

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. Involved in centromeric enrichment of AUKRB in prometaphase