SGO1 - shugoshin 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 151648

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	References	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	References	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	References	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_C

0
100
200
300
400
500
561 a.a.

Protein Preferred Names	Protein Names
shugoshin 1	serologically defined breast cancer antigen NY-BR-85

SGO1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SGO1	Q5FBB7	STAG2	Homo sapiens	Q8N3U4	Pull Down	23242214
Intra	SGO1	Q5FBB7	STAG2	Homo sapiens	Q8N3U4	Anti Tag CoIP	23242214
Intra	SGO1	Q5FBB7	STAG2	Homo sapiens	Q8N3U4	Pull Down	25173175
Intra	SGO1	Q5FBB7	STAG2	Homo sapiens	Q8N3U4	Anti Tag CoIP	25173175
Intra	SGO1	Q5FBB7	PPP2R5D	Homo sapiens	Q14738	Anti Tag CoIP	33961781
Intra	SGO1	Q5FBB7	PPP2R5A	Homo sapiens	Q15172	Anti Tag CoIP	33961781
Intra	SGO1	Q5FBB7	PPP2R5A	Homo sapiens	Q15172	Confocal	16541025
Intra	SGO1	Q5FBB7	PPP2CA	Homo sapiens	P67775	Anti Bait CoIP	16541025
Intra	SGO1	Q5FBB7	PPP2CA	Homo sapiens	P67775	Anti Tag CoIP	33961781
Intra	SGO1	Q5FBB7	PPP2CA	Homo sapiens	P67775	Anti Bait CoIP	18716626
Intra	SGO1	Q5FBB7	CDCA5	Homo sapiens	Q96FF9	Anti Bait CoIP	23242214
Intra	SGO1	Q5FBB7	CDCA5	Homo sapiens	Q96FF9	Anti Tag CoIP	23242214
Intra	SGO1	Q5FBB7	CBX5	Homo sapiens	P45973	Anti Tag CoIP	21346195
Intra	SGO1	Q5FBB7	CBX5	Homo sapiens	P45973	Anti Bait CoIP	18716626
Intra	SGO1	Q5FBB7	SMC1A	Homo sapiens	Q14683	Pull Down	23242214
Intra	SGO1	Q5FBB7	SMC1A	Homo sapiens	Q14683	Anti Bait CoIP	23242214
Intra	SGO1	Q5FBB7	SMC1A	Homo sapiens	Q14683	Anti Tag CoIP	23242214

Cross: Cross-species interaction Intra: Intraspecies interaction

SGO1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811317	Shugoshin 1 Antibody	WB, ICC/IF	Human, Mouse, Rat

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-104000	BAY-320	Inhibitor	99.74%	Unkown
HY-RS12807	SGO1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	SGO1	NCBI