• Gene id: 10274

Gene Summary

• Gene Symbol: STAG1   Gene   UCSC   Ensembl
• Aliases: MRD47, SA1, SCC3A
• Gene name: stromal antigen 1
• Alternate names: cohesin subunit SA-1, SCC3 homolog 1, nuclear protein stromal antigen 1,
• Gene location: 3q22.3 (136752411: 136336234)     Exons: 39     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 604358

Protein Summary

• Protein general information: Q8WVM7  
  • Name: Cohesin subunit SA 1 (SCC3 homolog 1) (Stromal antigen 1)
  • Length: 1258  
  • Mass: 144427
• Sequence:

  MITSELPVLQDSTNETTAHSDAGSELEETEVKGKRKRGRPGRPPSTNKKPRKSPGEKSRIEAGIRGAGRGRANGH
  PQQNGEGEPVTLFEVVKLGKSAMQSVVDDWIESYKQDRDIALLDLINFFIQCSGCRGTVRIEMFRNMQNAEIIRK
  MTEEFDEDSGDYPLTMPGPQWKKFRSNFCEFIGVLIRQCQYSIIYDEYMMDTVISLLTGLSDSQVRAFRHTSTLA
  AMKLMTALVNVALNLSIHQDNTQRQYEAERNKMIGKRANERLELLLQKRKELQENQDEIENMMNSIFKGIFVHRY
  RDAIAEIRAICIEEIGVWMKMYSDAFLNDSYLKYVGWTLHDRQGEVRLKCLKALQSLYTNRELFPKLELFTNRFK
  DRIVSMTLDKEYDVAVEAIRLVTLILHGSEEALSNEDCENVYHLVYSAHRPVAVAAGEFLHKKLFSRHDPQAEEA
  LAKRRGRNSPNGNLIRMLVLFFLESELHEHAAYLVDSLWESSQELLKDWECMTELLLEEPVQGEEAMSDRQESAL
  IELMVCTIRQAAEAHPPVGRGTGKRVLTAKERKTQIDDRNKLTEHFIITLPMLLSKYSADAEKVANLLQIPQYFD
  LEIYSTGRMEKHLDALLKQIKFVVEKHVESDVLEACSKTYSILCSEEYTIQNRVDIARSQLIDEFVDRFNHSVED
  LLQEGEEADDDDIYNVLSTLKRLTSFHNAHDLTKWDLFGNCYRLLKTGIEHGAMPEQIVVQALQCSHYSILWQLV
  KITDGSPSKEDLLVLRKTVKSFLAVCQQCLSNVNTPVKEQAFMLLCDLLMIFSHQLMTGGREGLQPLVFNPDTGL
  QSELLSFVMDHVFIDQDEENQSMEGDEEDEANKIEALHKRRNLLAAFSKLIIYDIVDMHAAADIFKHYMKYYNDY
  GDIIKETLSKTRQIDKIQCAKTLILSLQQLFNELVQEQGPNLDRTSAHVSGIKELARRFALTFGLDQIKTREAVA
  TLHKDGIEFAFKYQNQKGQEYPPPNLAFLEVLSEFSSKLLRQDKKTVHSYLEKFLTEQMMERREDVWLPLISYRN
  SLVTGGEDDRMSVNSGSSSSKTSSVRNKKGRPPLHKKRVEDESLDNTWLNRTDTMIQTPGPLPAPQLTSTVLREN
  SRPMGDQIQEPESEHGSEPDFLHNPQMQISWLGQPKLEDLNRKDRTGMNYMKVRTGVRHAVRGLMEEDAEPIFED
  VMMSSRSQLEDMNEEFEDTMVIDLPPSRNRRERAELRPDFFDSAAIIEDDSGFGMPMF

• Structural information:
  • Protein Domains: (296..38-)
    (/note="SCD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00750"-)
  • Interpro: IPR016024  IPR039662  IPR020839  IPR013721  
  • Prosite: PS51425
  • PDB: 5QSM 5QSN 5QSO 5QSP 5QSQ 5QSR 5QSS 5QST 5QSU 5QSV 5QSW 5QSX 5QSY 5QSZ 6QB5 6R7O 6RRC 6RRK
  • PDBsum: 5QSM 5QSN 5QSO 5QSP 5QSQ 5QSR 5QSS 5QST 5QSU 5QSV 5QSW 5QSX 5QSY 5QSZ 6QB5 6R7O 6RRC 6RRK
  • DIP: 35421
  • STRING: ENSP00000372689
• Other Databases: GeneCards:  STAG1  Malacards:  STAG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008278	cohesin complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000785	chromatin	IBA	cellular component
GO:0007062	sister chromatid cohesion	IBA	biological process
GO:0003682	chromatin binding	IBA	molecular function
GO:0000785	chromatin	IDA	cellular component
GO:0008278	cohesin complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051301	cell division	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007059	chromosome segregation	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0000785	chromatin	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0008278	cohesin complex	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0097431	mitotic spindle pole	IDA	cellular component
GO:0090307	mitotic spindle assembly	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04110	Cell cycle

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq