2. Gene
  3. SGO1 - shugoshin 1 Gene

SGO1 - shugoshin 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：修护神 1

种属: Homo sapiens

同用名: SGO; CAID; SGOL1; NY-BR-85

基因 ID: 151648 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是 shugoshin 蛋白质家族的成员。这种蛋白质被认为通过防止粘连蛋白亚基的磷酸化来保护着丝粒粘连蛋白在有丝分裂前期不被切割。该基因表达减少导致着丝粒内聚力过早丧失、姐妹染色单体错误分离和有丝分裂停滞。有证据表明，这种蛋白质还可以保护在有丝分裂前期沿染色体臂长度发现的一小部分粘连蛋白。已显示缺少外显子 6 的亚型在中心粒的凝聚中发挥作用 (PMID：16582621 和 PMID：18331714) 。该基因的突变与慢性心房和肠道心律失常 (CAID) 综合征有关，其特征是在生命的前四十年内同时发生病态窦房结综合征 (SSS) 和慢性肠道假性梗阻 (CIPO) (PMID： 25282101) 。来自 CAID 患者的成纤维细胞表现出增加的细胞增殖和更高的衰老率。已在 1 号和 7 号染色体上发现该基因的假基因。可变剪接导致多个转录变体。[RefSeq 提供，2015 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables kinase binding IDA
IDA: 通过直接分析推断
18331714 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16541025 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in attachment of spindle microtubules to kinetochore IDA
IDA: 通过直接分析推断
17621308 GOA
involved in centriole-centriole cohesion IDA
IDA: 通过直接分析推断
18331714 GOA
acts upstream of or within centriole-centriole cohesion IMP
IMP: 通过突变表型推断
18331714 GOA
involved in chromosome segregation IDA
IDA: 通过直接分析推断
16580887 GOA
acts upstream of or within meiotic chromosome segregation IMP
IMP: 通过突变表型推断
18331714 GOA
involved in mitotic sister chromatid cohesion, centromeric IMP
IMP: 通过突变表型推断
24157919 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
18331714 GOA
located in chromosome, centromeric region IDA
IDA: 通过直接分析推断
16682347 GOA
located in condensed chromosome, centromeric region IDA
IDA: 通过直接分析推断
19465021 GOA
colocalizes with kinetochore IDA
IDA: 通过直接分析推断
16582621 GOA
located in kinetochore IDA
IDA: 通过直接分析推断
17617734 GOA
located in spindle pole IDA
IDA: 通过直接分析推断
18331714 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SGO1 蛋白结构

Shugoshin_N

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

Shugoshin_C

Shugoshin_C: Shugoshin C terminus (472 - 496)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 561 a.a.
蛋白主名 其他名称

shugoshin 1

serologically defined breast cancer antigen NY-BR-85

SGO1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-104000 BAY-320 Inhibitor 99.74% 否
HY-RS12807 SGO1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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