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

Gene ID: 10274, updated on 1-Jul-2024

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
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Genomic context

See STAG1 in Genome Data Viewer
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_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:135942902-135943448 Neighboring gene ribosomal protein L31 pseudogene 23 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:135968821-135969687 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:136015730-136016305 Neighboring gene propionyl-CoA carboxylase subunit beta Neighboring gene RNA, U6 small nuclear 1284, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:136344516-136345016 Neighboring gene RNY4 pseudogene 4 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 10 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:136442929-136443555 Neighboring gene RNA, U6 small nuclear 789, pseudogene Neighboring gene hESC enhancers GRCh37_chr3:136470665-136471596 and GRCh37_chr3:136471597-136472528 Neighboring gene DNAJC8 pseudogene 2 Neighboring gene STAG1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20588 Neighboring gene sulfotransferase family 1D member 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp781D1416

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

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.

mRNA and Protein(s)

  1. NM_005862.3NP_005853.2  cohesin subunit SA-1

    See identical proteins and their annotated locations for NP_005853.2

    Status: REVIEWED

    Source sequence(s)
    AC069524, BC017735, BC064699
    Consensus CDS
    CCDS3090.1
    UniProtKB/Swiss-Prot
    O00539, Q6P275, Q8WVM7
    UniProtKB/TrEMBL
    Q4LE48
    Related
    ENSP00000372689.2, ENST00000383202.7
    Conserved Domains (2) summary
    pfam08514
    Location:160268
    STAG; STAG domain
    pfam14621
    Location:383
    RFX5_DNA_bdg; RFX5 DNA-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    136336236..136752378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447229.1XP_047303185.1  cohesin subunit SA-1 isoform X1

    UniProtKB/TrEMBL
    Q4LE48
    Related
    ENSP00000404396.2, ENST00000434713.6
  2. XM_047447228.1XP_047303184.1  cohesin subunit SA-1 isoform X1

    UniProtKB/TrEMBL
    Q4LE48
  3. XM_047447231.1XP_047303187.1  cohesin subunit SA-1 isoform X2

    UniProtKB/TrEMBL
    Q68DW7
  4. XM_047447230.1XP_047303186.1  cohesin subunit SA-1 isoform X2

    UniProtKB/TrEMBL
    Q68DW7
  5. XM_047447235.1XP_047303191.1  cohesin subunit SA-1 isoform X3

    UniProtKB/TrEMBL
    Q68DW7
  6. XM_017005525.2XP_016861014.1  cohesin subunit SA-1 isoform X4

    UniProtKB/TrEMBL
    B4E2Q7

RNA

  1. XR_001739978.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    139076901..139493092 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344912.1XP_054200887.1  cohesin subunit SA-1 isoform X1

    UniProtKB/TrEMBL
    Q4LE48
  2. XM_054344911.1XP_054200886.1  cohesin subunit SA-1 isoform X1

    UniProtKB/TrEMBL
    Q4LE48
  3. XM_054344914.1XP_054200889.1  cohesin subunit SA-1 isoform X2

    UniProtKB/TrEMBL
    Q68DW7
  4. XM_054344913.1XP_054200888.1  cohesin subunit SA-1 isoform X2

    UniProtKB/TrEMBL
    Q68DW7
  5. XM_054344915.1XP_054200890.1  cohesin subunit SA-1 isoform X3

    UniProtKB/TrEMBL
    Q68DW7
  6. XM_054344916.1XP_054200891.1  cohesin subunit SA-1 isoform X4

    UniProtKB/TrEMBL
    B4E2Q7

RNA

  1. XR_008486626.1 RNA Sequence