SGO1 shugoshin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SGO1provided by HGNC
Official Full Name: shugoshin 1provided by HGNC
Primary source: HGNC:HGNC:25088
See related: Ensembl:ENSG00000129810 MIM:609168; AllianceGenome:HGNC:25088
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SGO; CAID; SGOL1; NY-BR-85
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]
Expression: Broad expression in testis (RPKM 1.6), bone marrow (RPKM 1.4) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p24.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (20160593..20186886, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (20164579..20190864, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (20202085..20227698, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prognosis and biological function of SGOL1 in clear cell renal cell carcinoma: a multiomics analysis.
Title: Prognosis and biological function of SGOL1 in clear cell renal cell carcinoma: a multiomics analysis.
A highly conserved pocket on PP2A-B56 is required for hSgo1 binding and cohesion protection during mitosis.
Title: A highly conserved pocket on PP2A-B56 is required for hSgo1 binding and cohesion protection during mitosis.
Cohesin-protein Shugoshin-1 controls cardiac automaticity via HCN4 pacemaker channel.
Title: Cohesin-protein Shugoshin-1 controls cardiac automaticity via HCN4 pacemaker channel.
a major function of SET during mitosis is to disrupt the Sgo1-cohesin interaction.
Title: SET binding to Sgo1 inhibits Sgo1-cohesin interactions and promotes chromosome segregation.
Transcript amounts of SGO1-AS1 could distinguish these two sets of samples.
Title: Assessment of SGO1 and SGO1-AS1 contribution in breast cancer.
noncanonical roles of SGO1 drive the clinical manifestations observed in chronic atrial and intestinal dysrhythmia.
Title: Molecular Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics.
Shugoshin-1 (Sgo1) protects the integrity of the centromeres, and H2A phosphorylation is critical for this process.
Title: Shugoshin 1 is dislocated by KSHV-encoded LANA inducing aneuploidy.
A major function of RSF1 is to recruit HDAC1 to centromeres, where it antagonizes Tip60-mediated acetylation of H2A- K118, which allows Sgo1 accumulation and centromeric cohesion protection.
Title: The chromatin remodeler RSF1 controls centromeric histone modifications to coordinate chromosome segregation.
Many factors involved in the chromatin association of Shugoshin proteins are well established, most strikingly through modifications found directly on centromeric and pericentric chromatin. It has been well established that phosphorylation at the centromere is essential to nucleating Shugoshin recruitment.
Title: Critical roles of Shugoshin and histones as tension sensors during mitosis.
Molecular chaperone SET-assisted eviction of linker histones and Shugoshins is a fundamental step in mammalian mitotic progression.
Title: Phospho-H1 Decorates the Inter-chromatid Axis and Is Evicted along with Shugoshin by SET during Mitosis.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Chronic atrial and intestinal dysrhythmia MedGen: C4015474 OMIM: 616201 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr interferes with the heterochromatin structure by displacing HP1-alpha and HP1-gamma proteins in interphase, which leads to relocalization of the centromere chromatin proteins Mis12, Sgo1, and CPC after prophase	PubMed
	vpr	HIV-1 Vpr inhibits Sgo1 expression in spread chromosomes and prometaphase cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D7S2067E (e-PCR)
- UniSTS:151120

D11S3114 (e-PCR)
- UniSTS:152207

GDB:631813 (e-PCR)
- UniSTS:158430

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in attachment of spindle microtubules to kinetochore	IDA Inferred from Direct Assay more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in centriole-centriole cohesion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within centriole-centriole cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within meiotic chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic sister chromatid cohesion, centromeric	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in condensed chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
colocalizes_with kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: shugoshin 1

Names: serologically defined breast cancer antigen NY-BR-85; shugoshin 1AB protein; shugoshin 1CD protein; shugoshin 1EF protein; shugoshin 1GH protein; shugoshin 1KL protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042062.1 RefSeqGene

Range

5026..21748

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012409.4 → NP_001012409.1 shugoshin 1 isoform 1

See identical proteins and their annotated locations for NP_001012409.1

Status: REVIEWED

Description

Transcript Variant: This variant (A1) differs in the 5' UTR compared to variant 1. Both variants 1 and A1 encode the same isoform (1).

Source sequence(s)

AB187577, AB193058, AC099057, AF308299, BC032696, BX494477, BX648516

Consensus CDS

CCDS46773.1

UniProtKB/TrEMBL

A0A024R2K2, B5BUA4

Conserved Domains (2) summary

pfam07557
Location:474 → 496

Shugoshin_C; Shugoshin C terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001012410.5 → NP_001012410.1 shugoshin 1 isoform EF

See identical proteins and their annotated locations for NP_001012410.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1F, PMID:15737064; also known as A2) differs in the 5' UTR and contains an alternate 3' terminal segment compared to variant 1, resulting in a novel 3' coding region and distinct 3' UTR. It encodes isoform 1EF which is longer and has a distinct C-terminus, compared to isoform 1. Both variants Sgo1E and Sgo1F encode the same isoform (1EF).

Source sequence(s)

AB187578, AB193061, BX494477

Consensus CDS

CCDS33716.1

UniProtKB/Swiss-Prot

Q588H5, Q5FBB4, Q5FBB5, Q5FBB6, Q5FBB7, Q5FBB8, Q8N579, Q8WVL0, Q9BVA8, Q9H275

Related

ENSP00000263753.4, ENST00000263753.8

Conserved Domains (2) summary

pfam07557
Location:474 → 496

Shugoshin_C; Shugoshin C-terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001012411.4 → NP_001012411.1 shugoshin 1 isoform 1CD

See identical proteins and their annotated locations for NP_001012411.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1C, PMID:15737064; also known as B1) differs in its 5' UTR and uses an alternate in-frame splice site in its central coding region compared to variant 1. It encodes isoform 1CD which is shorter and has a distinct internal amino acid, compared to isoform 1. Both variants Sgo1C and Sgo1D encode the same isoform (1CD).

Source sequence(s)

AB193058, AC099057, AF308299, BC032696, BX494477, BX648516

Consensus CDS

CCDS46774.1

UniProtKB/Swiss-Prot

Q5FBB7

Related

ENSP00000389034.1, ENST00000437051.5

Conserved Domains (2) summary

pfam07557
Location:222 → 244

Shugoshin_C; Shugoshin C terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001012412.5 → NP_001012412.1 shugoshin 1 isoform 1GH

See identical proteins and their annotated locations for NP_001012412.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1H, PMID:15737064, also known as B2) differs in its 5' UTR, uses an alternate in-frame splice site in its central coding region, and contains an alternate 3' terminal segment compared to variant 1, resulting in a novel 3' coding region and distinct 3' UTR. It encodes isoform 1GH which is shorter, has a distinct internal amino acid, and has a distinct C-terminus, compared to isoform 1. Both variants Sgo1G and Sgo1H encode the same isoform (1GH).

Source sequence(s)

AB187578, AB193063, BX494477

Consensus CDS

CCDS46771.1

UniProtKB/Swiss-Prot

Q5FBB7

Related

ENSP00000394625.2, ENST00000419233.6

Conserved Domains (2) summary

pfam07557
Location:222 → 244

Shugoshin_C; Shugoshin C terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001012413.4 → NP_001012413.1 shugoshin 1 isoform 1AB

See identical proteins and their annotated locations for NP_001012413.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1B, PMID:15737064; also known as C1) differs in its 5' UTR and lacks an alternate in-frame exon in its central coding region compared to variant 1. It encodes isoform 1AB which is shorter and has a distinct internal amino acid, compared to isoform 1. Both variants Sgo1A and Sgo1B encode the same isoform (1AB).

Source sequence(s)

AB193057, AC099057, AF308299, BC032696, BX494477, BX648516

Consensus CDS

CCDS46772.1

UniProtKB/Swiss-Prot

Q5FBB7

Conserved Domains (2) summary

pfam07557
Location:205 → 227

Shugoshin_C; Shugoshin C terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001199251.3 → NP_001186180.1 shugoshin 1 isoform 1

See identical proteins and their annotated locations for NP_001186180.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and A1 encode the same isoform (1).

Source sequence(s)

AB190994, AC099057, AF308299, AK308095, BC032696, BX648516

Consensus CDS

CCDS46773.1

UniProtKB/TrEMBL

A0A024R2K2, B5BUA4

Related

ENSP00000410458.1, ENST00000412997.6

Conserved Domains (2) summary

pfam07557
Location:474 → 496

Shugoshin_C; Shugoshin C terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001199252.3 → NP_001186181.1 shugoshin 1 isoform EF

See identical proteins and their annotated locations for NP_001186181.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1E, PMID:15737064) contains an alternate 3' terminal segment compared to variant 1, resulting in a novel 3' coding region and distinct 3' UTR. It encodes isoform 1EF which is longer and has a distinct C-terminus, compared to isoform 1. Both variants Sgo1E and Sgo1F encode the same isoform (1EF).

Source sequence(s)

AB187578, AB193060, BX494477

Consensus CDS

CCDS33716.1

UniProtKB/Swiss-Prot

Q588H5, Q5FBB4, Q5FBB5, Q5FBB6, Q5FBB7, Q5FBB8, Q8N579, Q8WVL0, Q9BVA8, Q9H275

Related

ENSP00000414129.1, ENST00000421451.5

Conserved Domains (2) summary

pfam07557
Location:474 → 496

Shugoshin_C; Shugoshin C-terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001199253.3 → NP_001186182.1 shugoshin 1 isoform 1CD

See identical proteins and their annotated locations for NP_001186182.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1D, PMID:15737064) uses an alternate in-frame splice site in its central coding region compared to variant 1. It encodes isoform 1CD which is shorter and has a distinct internal amino acid, compared to isoform 1. Both variants Sgo1C and Sgo1D encode the same isoform (1CD).

Source sequence(s)

AB193059, AC099057, AF308299, BC032696, BX494477, BX648516

Consensus CDS

CCDS46774.1

UniProtKB/Swiss-Prot

Q5FBB7

Related

ENSP00000394613.1, ENST00000417364.1

Conserved Domains (2) summary

pfam07557
Location:222 → 244

Shugoshin_C; Shugoshin C terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001199254.3 → NP_001186183.1 shugoshin 1 isoform 1GH

See identical proteins and their annotated locations for NP_001186183.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1G, PMID:15737064) uses an alternate in-frame splice site in its central coding region and contains an alternate 3' terminal segment compared to variant 1, resulting in a novel 3' coding region and distinct 3' UTR. It encodes isoform 1GH which is shorter, has a distinct internal amino acid, and has a distinct C-terminus, compared to isoform 1. Both variants Sgo1G and Sgo1H encode the same isoform (1GH).

Source sequence(s)

AB187578, AB193062, BX494477

Consensus CDS

CCDS46771.1

UniProtKB/Swiss-Prot

Q5FBB7

Related

ENSP00000414960.1, ENST00000425061.5

Conserved Domains (2) summary

pfam07557
Location:222 → 244

Shugoshin_C; Shugoshin C terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001199255.3 → NP_001186184.1 shugoshin 1 isoform 1AB

See identical proteins and their annotated locations for NP_001186184.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1A, PMID:15737064) lacks an alternate in-frame exon in its central coding region compared to variant 1. It encodes isoform 1AB which is shorter and has a distinct internal amino acid, compared to isoform 1. Both variants Sgo1A and Sgo1B encode the same isoform (1AB).

Source sequence(s)

AB193056, AC099057, AF308299, BC032696, BX494477, BX648516

Consensus CDS

CCDS46772.1

UniProtKB/Swiss-Prot

Q5FBB7

Related

ENSP00000394957.1, ENST00000442720.5

Conserved Domains (2) summary

pfam07557
Location:205 → 227

Shugoshin_C; Shugoshin C terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001199256.3 → NP_001186185.1 shugoshin 1 isoform 1KL

See identical proteins and their annotated locations for NP_001186185.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1K, PMID:15737064; also known as sSGO1, PMID:18331714) lacks an alternate in-frame exon in its central coding region, and contains an alternate 3' terminal segment compared to variant 1, resulting in a novel 3' coding region and distinct 3' UTR. It encodes isoform 1KL which is shorter, has a distinct internal amino acid, and has a distinct C-terminus, compared to isoform 1. Both variants Sgo1K and Sgo1L encode the same isoform (1KL).

Source sequence(s)

AB187578, AB193065, BX494477

Consensus CDS

CCDS2635.1

Related

ENSP00000411200.1, ENST00000452020.5

Conserved Domains (2) summary

pfam07557
Location:205 → 226

Shugoshin_C; Shugoshin C terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_001199257.3 → NP_001186186.1 shugoshin 1 isoform 1J

See identical proteins and their annotated locations for NP_001186186.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1J, PMID:15737064) uses an alternate splice site in its 3' coding region, lacks two exons in the 3' coding region, and contains an alternate 3' terminal exon compared to variant 1, resulting in a novel 3' coding region and distinct 3' UTR. It encodes isoform 1J which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AB187578, AB193064, BX494477

Consensus CDS

CCDS56243.1

UniProtKB/Swiss-Prot

Q5FBB7

Related

ENSP00000413070.1, ENST00000443724.5

Conserved Domains (1) summary

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region
NM_138484.5 → NP_612493.1 shugoshin 1 isoform 1KL

See identical proteins and their annotated locations for NP_612493.1

Status: REVIEWED

Description

Transcript Variant: This variant (Sgo1L, PMID:15737064; also known as sSGO1, PMID:18331714 or C2) differs in the 5' UTR, lacks an alternate in-frame exon in its central coding region, and contains an alternate 3' terminal segment compared to variant 1, resulting in a novel 3' coding region and distinct 3' UTR. It encodes isoform 1KL which is shorter, has a distinct internal amino acid, and has a distinct C-terminus, compared to isoform 1. Both variants Sgo1K and Sgo1L encode the same isoform (1KL).

Source sequence(s)

AB187578, AB193066, BX494477

Consensus CDS

CCDS2635.1

Related

ENSP00000306581.2, ENST00000306698.6

Conserved Domains (2) summary

pfam07557
Location:205 → 226

Shugoshin_C; Shugoshin C terminus

pfam07558
Location:22 → 66

Shugoshin_N; Shugoshin N-terminal coiled-coil region

RNA

NR_131179.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (14) differs in its 5' terminal exon and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB193058, AB567657, AC099057, AF308299, BC032696, BX494477, BX648516
NR_131180.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (15) differs in its 5' terminal exon and lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB193058, AB567656, AC099057, AF308299, BC032696, BX494477, BX648516