STAG1 STAG1 cohesin complex component [Homo sapiens (human)] - Gene

Summary

Official Symbol: STAG1provided by HGNC
Official Full Name: STAG1 cohesin complex componentprovided by HGNC
Primary source: HGNC:HGNC:11354
See related: Ensembl:ENSG00000118007 MIM:604358; AllianceGenome:HGNC:11354
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: SA1; MRD47; SCC3A
Summary: This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 10.7), endometrium (RPKM 9.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q22.3

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (136336236..136752378, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (139076901..139493092, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (136055078..136471220, 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2.
Title: Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2.
Potential role of STAG1 mutations in genetic predisposition to childhood hematological malignancies.
Title: Potential role of STAG1 mutations in genetic predisposition to childhood hematological malignancies.
PD-L1 regulates genomic stability via interaction with cohesin-SA1 in the nucleus.
Title: PD-L1 regulates genomic stability via interaction with cohesin-SA1 in the nucleus.
STAG2 loss-of-function affects short-range genomic contacts and modulates the basal-luminal transcriptional program of bladder cancer cells.
Title: STAG2 loss-of-function affects short-range genomic contacts and modulates the basal-luminal transcriptional program of bladder cancer cells.
STAG1 vulnerabilities for exploiting cohesin synthetic lethality in STAG2-deficient cancers.
Title: STAG1 vulnerabilities for exploiting cohesin synthetic lethality in STAG2-deficient cancers.
Specialized functions of cohesins STAG1 and STAG2 in 3D genome architecture.
Title: Specialized functions of cohesins STAG1 and STAG2 in 3D genome architecture.
Whole Exome Sequencing Identifies Cohesin Component STAG1 Mutation in de novo Acute Myeloid Leukemia (FAB M2): A Pilot Study with Cytogenetics, Clinical and Prognostic Implications.
Title: Whole Exome Sequencing Identifies Cohesin Component STAG1 Mutation in de novo Acute Myeloid Leukemia (FAB M2): A Pilot Study with Cytogenetics, Clinical and Prognostic Implications.
Cohesin Members Stag1 and Stag2 Display Distinct Roles in Chromatin Accessibility and Topological Control of HSC Self-Renewal and Differentiation.
Title: Cohesin Members Stag1 and Stag2 Display Distinct Roles in Chromatin Accessibility and Topological Control of HSC Self-Renewal and Differentiation.
Study provides a comprehensive review of the function of STAG1/2 in human physiology and disease and an integrative analysis of available omics data on STAG alterations in a wide array of cancers, comprising 53 691 patients and 1067 cell lines.
Title: STAG Mutations in Cancer.
We uncovered the cohesion subunit SA1 as a putative synthetic-essential target in cancers carrying inactivating mutations of its paralog, SA2. In SA2-deficient Ewing sarcoma and bladder cancer, further depletion of SA1 profoundly and specifically suppressed cancer cell proliferation, survival, and tumorigenic potential.
Title: Somatic mutation of the cohesin complex subunit confers therapeutic vulnerabilities in cancer.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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
Intellectual disability, autosomal dominant 47 MedGen: C4539951 OMIM: 617635 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103203 (e-PCR)
- UniSTS:97536

D3S3528 (e-PCR), detects polymorphism
- UniSTS:3874

D3S2453 (e-PCR), detects polymorphism
- UniSTS:6435

A009F46 (e-PCR)
- UniSTS:25129

G10550 (e-PCR)
- UniSTS:44089

G08243 (e-PCR)
- UniSTS:44090

RH45689 (e-PCR)
- UniSTS:76122

G32517 (e-PCR)
- UniSTS:117102

SHGC-64944 (e-PCR)
- UniSTS:41595

RH120283 (e-PCR)
- UniSTS:132739

SHGC-150766 (e-PCR)
- UniSTS:173193

D1S2717 (e-PCR), detects polymorphism
- UniSTS:59033

STAG1 (e-PCR)
- UniSTS:505251

SHGC-54603 (e-PCR)
- UniSTS:48803

SHGC-23862 (e-PCR)
- UniSTS:31912

D3S1549 (e-PCR), detects polymorphism
- UniSTS:62395

RH69867 (e-PCR)
- UniSTS:7357

RH94340 (e-PCR)
- UniSTS:89022

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in establishment of mitotic sister chromatid cohesion	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	TAS Traceable Author Statement more info
located_in chromosome, centromeric region	TAS Traceable Author Statement more info
part_of cohesin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of cohesin complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of mitotic cohesin complex	ISS Inferred from Sequence or Structural Similarity more info
located_in mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: cohesin subunit SA-1

Names: SCC3 homolog 1; nuclear protein stromal antigen 1; sister chromatid cohesion 3 homolog A; stromal antigen 1

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.