1. Gene
  2. SGO1 - shugoshin 1 Gene

SGO1 - shugoshin 1 Gene

Homo sapiens

Also known as SGO; CAID; SGOL1; NY-BR-85

Gene ID: 151648 | Gene type: protein coding

About SGO1

Cytogenetic location: 3p24.3 Genomic coordinates (GRCh38): 3:20,160,593-20,186,886 (from NCBI)

This gene has 13 transcripts (splice variants), 193 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in testis (RPKM 1.6), bone marrow (RPKM 1.4) and 16 other tissues.

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 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]

SGO1 Products(13)

mRNA Protein Name
NM_001012409.4 NP_001012409.1 shugoshin 1 isoform 1
NM_001012410.5 NP_001012410.1 shugoshin 1 isoform EF
NM_001012411.4 NP_001012411.1 shugoshin 1 isoform 1CD
NM_001012412.5 NP_001012412.1 shugoshin 1 isoform 1GH
NM_001012413.4 NP_001012413.1 shugoshin 1 isoform 1AB
NM_001199251.3 NP_001186180.1 shugoshin 1 isoform 1
NM_001199252.3 NP_001186181.1 shugoshin 1 isoform EF
NM_001199253.3 NP_001186182.1 shugoshin 1 isoform 1CD
NM_001199254.3 NP_001186183.1 shugoshin 1 isoform 1GH
NM_001199255.3 NP_001186184.1 shugoshin 1 isoform 1AB
NM_001199256.3 NP_001186185.1 shugoshin 1 isoform 1KL
NM_001199257.3 NP_001186186.1 shugoshin 1 isoform 1J
NM_138484.5 NP_612493.1 shugoshin 1 isoform 1KL
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables kinase binding IDA
IDA: Inferred from direct assay
18331714 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16541025 GOA
Biological Process GO Annotation Evidence Reference Source
involved in attachment of spindle microtubules to kinetochore IDA
IDA: Inferred from direct assay
17621308 GOA
involved in centriole-centriole cohesion IDA
IDA: Inferred from direct assay
18331714 GOA
acts upstream of or within centriole-centriole cohesion IMP
IMP: Inferred from mutant phenotype
18331714 GOA
involved in chromosome segregation IDA
IDA: Inferred from direct assay
16580887 GOA
acts upstream of or within meiotic chromosome segregation IMP
IMP: Inferred from mutant phenotype
18331714 GOA
involved in mitotic sister chromatid cohesion, centromeric IMP
IMP: Inferred from mutant phenotype
24157919 GOA
Cellular Component GO Annotation Evidence Reference Source
located in centrosome IDA
IDA: Inferred from direct assay
18331714 GOA
located in chromosome, centromeric region IDA
IDA: Inferred from direct assay
16682347 GOA
located in condensed chromosome, centromeric region IDA
IDA: Inferred from direct assay
19465021 GOA
colocalizes with kinetochore IDA
IDA: Inferred from direct assay
16582621 GOA
located in kinetochore IDA
IDA: Inferred from direct assay
17617734 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
18331714 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SGO1 Protein Structure

Shugoshin_N

Shugoshin_N: Shugoshin N-terminal coiled-coil region (22 - 67)

Shugoshin_C

Shugoshin_C: Shugoshin C terminus (472 - 496)

  • 0
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  • 500
  • 561 a.a.
Protein Preferred Names Protein Names

shugoshin 1

serologically defined breast cancer antigen NY-BR-85

Related Diseases

Diseases Alias
Chronic Atrial And Intestinal Dysrhythmia

CAID

Caid Syndrome

Cohesinopathy Affecting Heart And Gut Rhythm

Chronic Atrial Intestinal Dysrhythmia Syndrome

Chronic Atrial And Intestinal Dysrhythmia Syndrome

Chronic Atrial Dysrhythmia-Intestinal Motility Disorder

Dysrhythmia, Atrial And Intestinal, Chronic

Sick Sinus Syndrome

Sinus Node Dysfunction

Sinus Node Disease

Sinus Node Infection

Snd

Sss

Snd - [Sinus Node Dysfunction]

Sinoatrial Node Dysfunction

Sss - [Sick Sinus Syndrome]

Sick Sinus

Sick Sinus Tachycardia

Intestinal Pseudo-Obstruction

Chronic Intestinal Pseudoobstruction

Chronic Intestinal Pseudo-Obstruction

Cipo

Neuronal Intestinal Dysplasia

Hollow Visceral Myopathy

Familial Visceral Neuropathy

Paralytic Ileus

Intestinal Pseudoobstruction

Chronic Idiopathic Intestinal Pseudo-Obstruction

Ciip

Congenital Short Bowel Syndrome

Enteric Neuropathy

Familial Visceral Myopathy

Ipo

Pseudo-Obstruction Of Intestine

Pseudointestinal Obstruction Syndrome

Pseudoobstructive Syndrome

Congenital Idiopathic Intestinal Pseudoobstruction

Visceral Myopathy, Familial

Adenoid Hypertrophy

Hypertrophy Of Adenoids

Adenoidal Hypertrophy

Enlarged Adenoids

Enlargement Of Adenoids

Adenoidal Enlargement

Adenoids, Hypertrophy

Hypertrophy Of Adenoids Alone

Adenoid Growth

Hyperplasia Of Adenoids

Hypertrophy Of Pharyngeal Tonsil

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Intestinal Obstruction

Inspissated Milk Syndrome

Milk Curd Syndrome

Roberts-Sc Phocomelia Syndrome

Roberts Syndrome

Sc Phocomelia Syndrome

RBS

Long Bone Deficiencies Associated With Cleft Lip-Palate

Sc Pseudothalidomide Syndrome

Appelt-Gerken-Lenz Syndrome

Pseudothalidomide Syndrome

Tetraphocomelia-Cleft Palate Syndrome

Hypomelia Hypotrichosis Facial Hemangioma Syndrome

Roberts Syndrome/Sc Phocomelia

Roberts Tetraphocomelia Syndrome

Sc Syndrome

Sc Phocomelia

Sc Disease

Sc

Hemoglobin Sc Disease

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

Warsaw Breakage Syndrome

WABS

WBRS

Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 4

CDLS4

Cornelia De Lange Syndrome, Type 4

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome

Mva Syndrome

Mosaic Variegated Aneuplody Microcephaly Syndrome

Warburton Anyane Yeboa Syndrome

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SGO1 RGD RGD:1593238
Mus musculus SGO1 MGD MGI:1919665
Bos taurus SGO1 VGNC VGNC:34545
Canis familiaris SGO1 VGNC VGNC:46100
Macaca mulatta SGO1 VGNC VGNC:77305