Gene Gene information from NCBI Gene database.
Entrez ID 10274
Gene name STAG1 cohesin complex component
Gene symbol STAG1
Synonyms (NCBI Gene)
MRD47SA1SCC3A
Chromosome 3
Chromosome location 3q22.3
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
SNPs SNP information provided by dbSNP.
19
SNP ID Visualize variation Clinical significance Consequence
rs1057519153 T>C Likely-pathogenic, uncertain-significance 5 prime UTR variant, missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1057524850 C>G Likely-pathogenic, not-provided Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1376334317 C>T Pathogenic, likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1471479119 T>C Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs1553718528 ->A Pathogenic, likely-pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
115
miRTarBase ID miRNA Experiments Reference
MIRT022070 hsa-miR-128-3p Microarray 17612493
MIRT029901 hsa-miR-26b-5p Microarray 19088304
MIRT050227 hsa-miR-25-3p CLASH 23622248
MIRT049410 hsa-miR-92a-3p CLASH 23622248
MIRT045515 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000775 Component Chromosome, centromeric region TAS
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin IDA 16682347
GO:0000785 Component Chromatin IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604358 11354 ENSG00000118007
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WVM7
Protein name Cohesin subunit SA-1 (SCC3 homolog 1) (Stromal antigen 1)
Protein 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
PDB 5QSM , 5QSN , 5QSO , 5QSP , 5QSQ , 5QSR , 5QSS , 5QST , 5QSU , 5QSV , 5QSW , 5QSX , 5QSY , 5QSZ , 6QB5 , 6R7O , 6RRC , 6RRK , 6WG3 , 7W1M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08514 STAG 160 274 STAG domain Family
Sequence
MITSELPVLQDSTNETTAHSDAGSELEETEVKGKRKRGRPGRPPSTNKKPRKSPGEKSRI
EAGIRGAGRGRANGHPQQNGEGEPVTLFEVVKLGKSAMQSVVDDWIESYKQDRDIALLDL
INFFIQCSGCRGTVRIEMFRNMQNAEIIRKMTEEFDEDSGDYPLTMPGPQWKKFRSNFCE
FIGVLIRQCQYSIIYDEYMMDTVISLLTGLSDSQVRAFRHTSTLAAMKLMTALVNVALNL
SIHQDNTQRQYEAERNKMIGKRANERLELLLQKR
KELQENQDEIENMMNSIFKGIFVHRY
RDAIAEIRAICIEEIGVWMKMYSDAFLNDSYLKYVGWTLHDRQGEVRLKCLKALQSLYTN
RELFPKLELFTNRFKDRIVSMTLDKEYDVAVEAIRLVTLILHGSEEALSNEDCENVYHLV
YSAHRPVAVAAGEFLHKKLFSRHDPQAEEALAKRRGRNSPNGNLIRMLVLFFLESELHEH
AAYLVDSLWESSQELLKDWECMTELLLEEPVQGEEAMSDRQESALIELMVCTIRQAAEAH
PPVGRGTGKRVLTAKERKTQIDDRNKLTEHFIITLPMLLSKYSADAEKVANLLQIPQYFD
LEIYSTGRMEKHLDALLKQIKFVVEKHVESDVLEACSKTYSILCSEEYTIQNRVDIARSQ
LIDEFVDRFNHSVEDLLQEGEEADDDDIYNVLSTLKRLTSFHNAHDLTKWDLFGNCYRLL
KTGIEHGAMPEQIVVQALQCSHYSILWQLVKITDGSPSKEDLLVLRKTVKSFLAVCQQCL
SNVNTPVKEQAFMLLCDLLMIFSHQLMTGGREGLQPLVFNPDTGLQSELLSFVMDHVFID
QDEENQSMEGDEEDEANKIEALHKRRNLLAAFSKLIIYDIVDMHAAADIFKHYMKYYNDY
GDIIKETLSKTRQIDKIQCAKTLILSLQQLFNELVQEQGPNLDRTSAHVSGIKELARRFA
LTFGLDQIKTREAVATLHKDGIEFAFKYQNQKGQEYPPPNLAFLEVLSEFSSKLLRQDKK
TVHSYLEKFLTEQMMERREDVWLPLISYRNSLVTGGEDDRMSVNSGSSSSKTSSVRNKKG
RPPLHKKRVEDESLDNTWLNRTDTMIQTPGPLPAPQLTSTVLRENSRPMGDQIQEPESEH
GSEPDFLHNPQMQISWLGQPKLEDLNRKDRTGMNYMKVRTGVRHAVRGLMEEDAEPIFED
VMMSSRSQLEDMNEEFEDTMVIDLPPSRNRRERAELRPDFFDSAAIIEDDSGFGMPMF
Sequence length 1258
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle   Separation of Sister Chromatids
Establishment of Sister Chromatid Cohesion
Cohesin Loading onto Chromatin
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
39
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Global developmental delay Likely pathogenic rs751263539 RCV001255409
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 47 Likely pathogenic; Pathogenic rs2107905668, rs2107905472, rs2530008022, rs2530398321, rs1435519890, rs2530394997, rs1267304310, rs1240231224, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1559791842, rs1559824939, rs1553789166
View all (3 more)
RCV001783820
RCV001809157
RCV002288372
RCV002290068
RCV003147903
View all (13 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay Likely pathogenic rs2107821352 RCV002274378
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic rs2107821339, rs2107831013 RCV001375017
RCV001375009
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations