Seroatlas · Human Serome Atlas

SGO1

Shugoshin 1

Also known as: NY-BR-85, SGO1_HUMAN, SGOL1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5FBB7
Gene: SGO1
Ensembl: ENSG00000129810
Chromosome: 3
Canonical length: 561 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Kinetochore,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

561 residues, UniProt reviewed canonical sequence.

>Q5FBB7|SGO1
     1  MAKERCLKKS FQDSLEDIKK RMKEKRNKNL AEIGKRRSFI AAPCQIITNT STLLKNYQDN
    61  NKMLVLALEN EKSKVKEAQD IILQLRKECY YLTCQLYALK GKLTSQQTVE PAQNQEICSS
   121  GMDPNSDDSS RNLFVKDLPQ IPLEETELPG QGESFQIEDQ IPTIPQDTLG VDFDSGEAKS
   181  TDNVLPRTVS VRSSLKKHCN SICQFDSLDD FETSHLAGKS FEFERVGFLD PLVNMHIPEN
   241  VQHNACQWSK DQVNLSPKLI QPGTFTKTKE DILESKSEQT KSKQRDTQER KREEKRKANR
   301  RKSKRMSKYK ENKSENKKTV PQKKMHKSVS SNDAYNFNLE EGVHLTPFRQ KVSNDSNREE
   361  NNESEVSLCE SSGSGDDSDD LYLPTCKYIQ NPTSNSDRPV TRPLAKRALK YTDEKETEGS
   421  KPTKTPTTTP PETQQSPHLS LKDITNVSLY PVVKIRRLSL SPKKNKASPA VALPKRRCTA
   481  SVNYKEPTLA SKLRRGDPFT DLCFLNSPIF KQKKDLRRSK KRALEVSPAK EAIFILYYVR
   541  EFVSRFPDCR KCKLETHICL R

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SGO1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.67
Highest tissue expression: 12 nTPM

Expression across tissuesHPA

Tissue

thymus: 12 nTPM
bone marrow: 8.2 nTPM
testis: 6.2 nTPM
tonsil: 6.1 nTPM
lymph node: 5.8 nTPM
appendix: 3.1 nTPM

Single-cell type

oocytes: 124 nCPM
monocyte progenitors: 67 nCPM
early primary spermatocytes: 66 nCPM
erythrocyte progenitors: 63 nCPM
extravillous trophoblasts: 57 nCPM
differentiating spermatogonia: 51 nCPM

Immune cell

basophil: 10 nTPM
naive B-cell: 9 nTPM
memory B-cell: 8.9 nTPM
plasmacytoid DC: 4.2 nTPM
T-reg: 2.6 nTPM
eosinophil: 1.4 nTPM

Brain region

white matter: 3.2 nTPM
cerebellum: 2.7 nTPM
basal ganglia: 2.4 nTPM
medulla oblongata: 2.2 nTPM
thalamus: 2.2 nTPM
pons: 2.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SGO1.

Disease | AllUniProt

Conditions SGO1 is implicated in, by any mechanism.

Chronic atrial and intestinal dysrhythmia (CAID) MIM:616201

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 40 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Chronic atrial and intestinal dysrhythmia
Cardiovascular phenotype
SGO1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.23
gnomAD pLI: 0
DepMap mean gene effect: -1.09
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

kinase binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Shugoshin 1/2
Shugoshin, C-terminal
Shugoshin, N-terminal coiled-coil domain
Shugoshin C terminus
Shugoshin N-terminal coiled-coil region

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SGO1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SGO1 as an antibody target. Whether an autoantibody or antibody against SGO1 could matter depends on whether native SGO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SGO1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SGO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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