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    Stag1 STAG1 cohesin complex component [ Mus musculus (house mouse) ]

    Gene ID: 20842, updated on 12-May-2024

    Summary

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    Official Symbol
    Stag1provided by MGI
    Official Full Name
    STAG1 cohesin complex componentprovided by MGI
    Primary source
    MGI:MGI:1098658
    See related
    Ensembl:ENSMUSG00000037286 AllianceGenome:MGI:1098658
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    SA-1; Scc3
    Summary
    Enables chromatin binding activity. Predicted to be involved in mitotic spindle assembly and sister chromatid cohesion. Predicted to act upstream of or within cell division and chromosome segregation. Located in chromatin. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; midbrain; and telencephalon. Human ortholog(s) of this gene implicated in autosomal dominant mental retardation 47. Orthologous to human STAG1 (stromal antigen 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in placenta adult (RPKM 8.6), CNS E11.5 (RPKM 8.5) and 22 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 E3.3- E4; 9 52.77 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (100479762..100840597)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (100597709..100958544)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3854 Neighboring gene non-catalytic region of tyrosine kinase adaptor protein 1 Neighboring gene predicted gene, 46139 Neighboring gene solute carrier family 35, member G2 Neighboring gene STARR-seq mESC enhancer starr_25037 Neighboring gene STARR-positive B cell enhancer ABC_E6797 Neighboring gene predicted gene 8661 Neighboring gene adaptor-related protein complex 2, beta 1 subunit pseudogene Neighboring gene STARR-seq mESC enhancer starr_25043 Neighboring gene RIKEN cDNA 6720484G13 gene Neighboring gene STARR-positive B cell enhancer ABC_E11420 Neighboring gene STARR-positive B cell enhancer ABC_E2300 Neighboring gene STARR-seq mESC enhancer starr_25045 Neighboring gene propionyl Coenzyme A carboxylase, beta polypeptide Neighboring gene brain expressed X-linked 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The contribution of cohesin-SA1 to gene expression and chromatin architecture in two murine tissues. Cuadrado A, et al. Nucleic Acids Res, 2015 Mar 31. PMID 25735743, Free PMC Article
    2. Distinct and overlapping roles of STAG1 and STAG2 in cohesin localization and gene expression in embryonic stem cells. Arruda NL, et al. Epigenetics Chromatin, 2020 Aug 10. PMID 32778134, Free PMC Article
    3. Cohesin-SA1 deficiency drives aneuploidy and tumourigenesis in mice due to impaired replication of telomeres. Remeseiro S, et al. EMBO J, 2012 May 2. PMID 22415365, Free PMC Article
    4. Cohesin Members Stag1 and Stag2 Display Distinct Roles in Chromatin Accessibility and Topological Control of HSC Self-Renewal and Differentiation. Viny AD, et al. Cell Stem Cell, 2019 Nov 7. PMID 31495782, Free PMC Article
    5. Essential Roles of Cohesin STAG2 in Mouse Embryonic Development and Adult Tissue Homeostasis. De Koninck M, et al. Cell Rep, 2020 Aug 11. PMID 32783938

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The N-terminus of Stag1 is required to repress the 2C program by maintaining rRNA expression and nucleolar integrity.
      Title: The N-terminus of Stag1 is required to repress the 2C program by maintaining rRNA expression and nucleolar integrity.
    2. Distinct and overlapping roles of STAG1 and STAG2 in cohesin localization and gene expression in embryonic stem cells.
      Title: Distinct and overlapping roles of STAG1 and STAG2 in cohesin localization and gene expression in embryonic stem cells.
    3. reduced dosage of SA1 altered the architecture of the Reg locus and decreased the expression of Reg genes in the pancreas of SA1 heterozygous mice
      Title: The contribution of cohesin-SA1 to gene expression and chromatin architecture in two murine tissues.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (1) 

    Pathways from PubChem

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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

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic spindle assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 
    part_of chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of cohesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cohesin complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitotic spindle pole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cohesin subunit SA-1
    Names
    SCC3 homolog 1
    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.

    mRNA and Protein(s)

    1. NM_001357264.2 → NP_001344193.1  cohesin subunit SA-1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC115355, AC134825, AC146297, AC147565
      Conserved Domains (1) summary
      pfam08514
      Location:23 → 131
      STAG; STAG domain

    2. NM_001357265.2 → NP_001344194.1  cohesin subunit SA-1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC115355, AC134825, AC146297, AC147565
      UniProtKB/TrEMBL
      F6XQW1
      Related
      ENSMUSP00000120974.2, ENSMUST00000146934.8

    3. NM_001420288.1 → NP_001407217.1  cohesin subunit SA-1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC115355, AC134825, AC146297, AC147565
      UniProtKB/Swiss-Prot
      O08982, Q6P5D1, Q9D3E6

    4. NM_001420289.1 → NP_001407218.1  cohesin subunit SA-1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC115355, AC134825, AC146297, AC147565

    5. NM_009282.5 → NP_033308.2  cohesin subunit SA-1 isoform 1

      See identical proteins and their annotated locations for NP_033308.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC115355, AC134825, AC146297, AC147565
      Consensus CDS
      CCDS23441.1
      UniProtKB/Swiss-Prot
      O08982, Q6P5D1, Q9D3E6
      Related
      ENSMUSP00000116205.2, ENSMUST00000129269.8
      Conserved Domains (2) summary
      pfam08514
      Location:160 → 268
      STAG; STAG domain
      pfam14621
      Location:3 → 58
      RFX5_DNA_bdg; RFX5 DNA-binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      100479762..100840597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510924.4 → XP_006510987.1  cohesin subunit SA-1 isoform X1

      See identical proteins and their annotated locations for XP_006510987.1

      UniProtKB/Swiss-Prot
      O08982, Q6P5D1, Q9D3E6
      Conserved Domains (2) summary
      pfam08514
      Location:160 → 268
      STAG; STAG domain
      pfam14621
      Location:3 → 58
      RFX5_DNA_bdg; RFX5 DNA-binding domain

    2. XM_030244173.2 → XP_030100033.1  cohesin subunit SA-1 isoform X3

      Conserved Domains (1) summary
      pfam08514
      Location:63 → 171
      STAG; STAG domain

    3. XM_006510925.2 → XP_006510988.1  cohesin subunit SA-1 isoform X2

      UniProtKB/TrEMBL
      F8WHU7
      Related
      ENSMUSP00000040724.7, ENSMUST00000041418.13
      Conserved Domains (2) summary
      pfam08514
      Location:160 → 268
      STAG; STAG domain
      pfam14621
      Location:3 → 58
      RFX5_DNA_bdg; RFX5 DNA-binding domain

    4. XM_011242692.3 → XP_011240994.1  cohesin subunit SA-1 isoform X6

      Conserved Domains (2) summary
      pfam08514
      Location:160 → 268
      STAG; STAG domain
      pfam14621
      Location:3 → 58
      RFX5_DNA_bdg; RFX5 DNA-binding domain

    5. XM_036154768.1 → XP_036010661.1  cohesin subunit SA-1 isoform X5

      Conserved Domains (1) summary
      pfam08514
      Location:23 → 131
      STAG; STAG domain

    6. XM_030244172.2 → XP_030100032.1  cohesin subunit SA-1 isoform X1

      UniProtKB/Swiss-Prot
      O08982, Q6P5D1, Q9D3E6
      Conserved Domains (2) summary
      pfam08514
      Location:160 → 268
      STAG; STAG domain
      pfam14621
      Location:3 → 58
      RFX5_DNA_bdg; RFX5 DNA-binding domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D3E6.3 GenPept UniProtKB/Swiss-Prot:Q9D3E6

    Gene LinkOut

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