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] See more...

Aliases for STAG1 Gene

Aliases for STAG1 Gene

  • Stromal Antigen 1 2 3 4 5
  • Cohesin Subunit SA-1 2 3 4
  • SA1 2 3 4
  • SCC3 Homolog 1 3 4
  • SCC3A 2 3
  • Nuclear Protein Stromal Antigen 1 3
  • MRD47 3
  • STAG1 5
  • SA-1 2
  • SCC3 4

External Ids for STAG1 Gene

Previous GeneCards Identifiers for STAG1 Gene

  • GC03M133000
  • GC03M136806
  • GC03M137336
  • GC03M137375
  • GC03M137537
  • GC03M136055
  • GC03M133432

Summaries for STAG1 Gene

Entrez Gene Summary for STAG1 Gene

  • 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]

GeneCards Summary for STAG1 Gene

STAG1 (Stromal Antigen 1) is a Protein Coding gene. Diseases associated with STAG1 include Mental Retardation, Autosomal Dominant 47 and Cornelia De Lange Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include chromatin binding and binding. An important paralog of this gene is STAG2.

UniProtKB/Swiss-Prot Summary for STAG1 Gene

  • Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis.

Gene Wiki entry for STAG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STAG1 Gene

Genomics for STAG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STAG1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STAG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STAG1

Top Transcription factor binding sites by QIAGEN in the STAG1 gene promoter:
  • CREB
  • deltaCREB
  • FOXO4
  • MAZR
  • p53
  • Pax-3
  • POU3F2
  • Sp1
  • TBP
  • TFIID

Genomic Locations for STAG1 Gene

Latest Assembly
chr3:136,336,235-136,752,412
(GRCh38/hg38)
Size:
416,178 bases
Orientation:
Minus strand

Previous Assembly
chr3:136,055,078-136,471,220
(GRCh37/hg19 by Entrez Gene)
Size:
416,143 bases
Orientation:
Minus strand

chr3:136,055,077-136,471,220
(GRCh37/hg19 by Ensembl)
Size:
416,144 bases
Orientation:
Minus strand

Genomic View for STAG1 Gene

Genes around STAG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAG1 Gene

Proteins for STAG1 Gene

  • Protein details for STAG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVM7-STAG1_HUMAN
    Recommended name:
    Cohesin subunit SA-1
    Protein Accession:
    Q8WVM7
    Secondary Accessions:
    • O00539
    • Q6P275

    Protein attributes for STAG1 Gene

    Size:
    1258 amino acids
    Molecular mass:
    144427 Da
    Quaternary structure:
    • Cohesin complexes are composed of a heterodimer between a SMC1 protein (SMC1A or SMC1B) and SMC3, which are attached via their hinge domain, and RAD21 which link them at their heads, and one STAG protein (STAG1, STAG2 or STAG3). In cohesin complexes, STAG1 is mutually exclusive with STAG2 and STAG3 (PubMed:11076961). Interacts directly with RAD21 in cohesin complex (By similarity). Found in a cohesin complex with SMC1A, SMC3 and RAD21 (PubMed:22628566).

    Three dimensional structures from OCA and Proteopedia for STAG1 Gene

    Alternative splice isoforms for STAG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAG1 Gene

Post-translational modifications for STAG1 Gene

  • Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity).
  • Ubiquitination at Lys366
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for STAG1 Gene

Domains & Families for STAG1 Gene

Gene Families for STAG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for STAG1 Gene

InterPro:
Blocks:
  • HEAT repeat
  • STAG

Suggested Antigen Peptide Sequences for STAG1 Gene

GenScript: Design optimal peptide antigens:
  • Stromal antigen 1 (STAG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WVM7

UniProtKB/Swiss-Prot:

STAG1_HUMAN :
  • Belongs to the SCC3 family.
Family:
  • Belongs to the SCC3 family.
genes like me logo Genes that share domains with STAG1: view

Function for STAG1 Gene

Molecular function for STAG1 Gene

UniProtKB/Swiss-Prot Function:
Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis.

Phenotypes From GWAS Catalog for STAG1 Gene

Gene Ontology (GO) - Molecular Function for STAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IBA 21873635
GO:0005515 protein binding IPI 15855230
genes like me logo Genes that share ontologies with STAG1: view
genes like me logo Genes that share phenotypes with STAG1: view

Human Phenotype Ontology for STAG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAG1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for STAG1 Gene

Localization for STAG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAG1 Gene

Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK1, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of cohesin is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STAG1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region TAS --
GO:0000785 chromatin IDA 16682347
GO:0005634 nucleus TAS,IBA 21873635
GO:0005654 nucleoplasm IDA,TAS --
GO:0005694 chromosome TAS --
genes like me logo Genes that share ontologies with STAG1: view

Pathways & Interactions for STAG1 Gene

genes like me logo Genes that share pathways with STAG1: view

Pathways by source for STAG1 Gene

1 GeneGo (Thomson Reuters) pathway for STAG1 Gene
  • Cell cycle_Spindle assembly and chromosome separation

Gene Ontology (GO) - Biological Process for STAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
GO:0007062 sister chromatid cohesion IBA 21873635
GO:0051301 cell division IEA --
GO:0090307 mitotic spindle assembly IMP 11590136
genes like me logo Genes that share ontologies with STAG1: view

No data available for SIGNOR curated interactions for STAG1 Gene

Drugs & Compounds for STAG1 Gene

No Compound Related Data Available

Transcripts for STAG1 Gene

mRNA/cDNA for STAG1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAG1

Alternative Splicing Database (ASD) splice patterns (SP) for STAG1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1:
SP2:
SP3:

ExUns: 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34a · 34b
SP1: -
SP2: - -
SP3:

Relevant External Links for STAG1 Gene

GeneLoc Exon Structure for
STAG1

Expression for STAG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STAG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STAG1 Gene

This gene is overexpressed in Cervix (21.7), Lymph node (7.3), and CD8 Tcells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STAG1 Gene



Protein tissue co-expression partners for STAG1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STAG1

SOURCE GeneReport for Unigene cluster for STAG1 Gene:

Hs.412586

Evidence on tissue expression from TISSUES for STAG1 Gene

  • Nervous system(3)
  • Skin(2.7)
  • Blood(2.7)
  • Muscle(2.3)
  • Heart(2.2)
  • Kidney(2.1)
  • Liver(2)
  • Intestine(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with STAG1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for STAG1 Gene

Orthologs for STAG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for STAG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STAG1 29 30
  • 99.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia STAG1 30
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STAG1 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia STAG1 29 30
  • 95.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STAG1 29 30
  • 94.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stag1 29
  • 93.38 (n)
Mouse
(Mus musculus)
Mammalia Stag1 29 16 30
  • 92.95 (n)
OneToOne
Chicken
(Gallus gallus)
Aves STAG1 29 30
  • 85.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STAG1 30
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100158523 29
  • 79.04 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3441 29
Zebrafish
(Danio rerio)
Actinopterygii stag1b 30
  • 85 (a)
OneToMany
stag1a 29 30
  • 75.16 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006998 29
  • 53.66 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta SA 29 30 31
  • 52.47 (n)
ManyToMany
SA-2 30
  • 24 (a)
ManyToMany
CG13916 31
  • 22 (a)
Worm
(Caenorhabditis elegans)
Secernentea scc-3 30
  • 33 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IRR1 30 32 32
  • 18 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SCC3 29
  • 41.37 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0188500 29
  • 40.69 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 46 (a)
OneToMany
Species where no ortholog for STAG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for STAG1 Gene

ENSEMBL:
Gene Tree for STAG1 (if available)
TreeFam:
Gene Tree for STAG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STAG1: view image
Alliance of Genome Resources:
Additional Orthologs for STAG1

Paralogs for STAG1 Gene

Paralogs for STAG1 Gene

(12) SIMAP similar genes for STAG1 Gene using alignment to 7 proteins:

  • STAG1_HUMAN
  • C9JJQ0_HUMAN
  • F5H1C4_HUMAN
  • F8WCB3_HUMAN
  • F8WF82_HUMAN
  • H7C595_HUMAN
  • Q6P275_HUMAN
genes like me logo Genes that share paralogs with STAG1: view

Variants for STAG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STAG1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1013230 Likely Pathogenic: not provided 136,477,318(-) T/C
NM_005862.3(STAG1):c.997A>G (p.Lys333Glu)
MISSENSE
1028431 Uncertain Significance: Intellectual disability, autosomal dominant 47 136,443,391(-) G/T
NM_005862.3(STAG1):c.1442C>A (p.Ala481Glu)
MISSENSE
1028432 Uncertain Significance: Intellectual disability, autosomal dominant 47 136,421,124(-) A/G
NM_005862.3(STAG1):c.2077T>C (p.Ser693Pro)
MISSENSE
1028433 Uncertain Significance: Intellectual disability, autosomal dominant 47 136,377,745(-) A/G
NM_005862.3(STAG1):c.2285T>C (p.Leu762Ser)
MISSENSE
1028434 Uncertain Significance: Intellectual disability, autosomal dominant 47 136,377,724(-) A/G
NM_005862.3(STAG1):c.2306T>C (p.Val769Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STAG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for STAG1 Gene

Variant ID Type Subtype PubMed ID
esv1010377 CNV deletion 20482838
esv1391168 CNV deletion 17803354
esv3306738 CNV mobile element insertion 20981092
esv3327611 CNV duplication 20981092
esv3368869 CNV insertion 20981092
esv3410767 CNV insertion 20981092
esv3597891 CNV loss 21293372
esv3893776 CNV loss 25118596
nsv1006737 CNV loss 25217958
nsv1008866 CNV gain 25217958
nsv1074628 CNV deletion 25765185
nsv1109549 CNV deletion 24896259
nsv1123693 CNV deletion 24896259
nsv238089 CNV deletion 16902084
nsv4025 CNV deletion 18451855
nsv4026 CNV insertion 18451855
nsv460861 CNV loss 19166990
nsv472230 CNV novel sequence insertion 20440878
nsv520012 CNV loss 19592680
nsv591850 CNV loss 21841781
nsv591851 CNV loss 21841781
nsv955353 CNV duplication 24416366
nsv965214 CNV duplication 23825009
nsv979880 CNV duplication 23825009

Variation tolerance for STAG1 Gene

Residual Variation Intolerance Score: 2.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.74; 66.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STAG1 Gene

Human Gene Mutation Database (HGMD)
STAG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAG1
Leiden Open Variation Database (LOVD)
STAG1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAG1 Gene

Disorders for STAG1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for STAG1 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search STAG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STAG1_HUMAN
  • Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD47 patients manifest developmental delay and mild to moderate intellectual disability, usually with delayed speech. {ECO:0000269 PubMed:28119487}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for STAG1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with STAG1: view

No data available for Genatlas for STAG1 Gene

Publications for STAG1 Gene

  1. SA-1, a nuclear protein encoded by one member of a novel gene family: molecular cloning and detection in hemopoietic organs. (PMID: 9305759) Carramolino L … Zipori D (Gene 1997) 2 3 4 22
  2. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. (PMID: 28119487) Lehalle D … Faivre L (Journal of medical genetics 2017) 3 4 72
  3. In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader complex. (PMID: 22628566) Bermudez VP … Hurwitz J (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4
  4. Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. (PMID: 19936222) Chasman DI … Ridker PM (PLoS genetics 2009) 3 40
  5. CTCF physically links cohesin to chromatin. (PMID: 18550811) Rubio ED … Krumm A (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 22

Products for STAG1 Gene

Sources for STAG1 Gene