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Protein

Cohesin subunit SA-1

Gene

STAG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • cell division Source: UniProtKB-KW
  • chromosome segregation Source: UniProtKB-KW
  • regulation of mitotic spindle assembly Source: UniProtKB

Keywordsi

Biological processCell cycle, Cell division, Chromosome partition, Mitosis

Enzyme and pathway databases

ReactomeiR-HSA-1221632 Meiotic synapsis
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-2468052 Establishment of Sister Chromatid Cohesion
R-HSA-2470946 Cohesin Loading onto Chromatin
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-9018519 Estrogen-dependent gene expression

Names & Taxonomyi

Protein namesi
Recommended name:
Cohesin subunit SA-1
Alternative name(s):
SCC3 homolog 1
Stromal antigen 1
Gene namesi
Name:STAG1
Synonyms:SA1, SCC31 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000118007.12
HGNCiHGNC:11354 STAG1
MIMi604358 gene
neXtProtiNX_Q8WVM7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Centromere, Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 47 (MRD47)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617635
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079487214Q → R in MRD47. 1 Publication1
Natural variantiVAR_079488216R → G in MRD47. 1 Publication1
Natural variantiVAR_079489220H → R in MRD47. 1 PublicationCorresponds to variant dbSNP:rs1057519153Ensembl.1
Natural variantiVAR_079490333K → Q in MRD47. 1 Publication1
Natural variantiVAR_079491351L → W in MRD47. 1 Publication1
Natural variantiVAR_079492373R → Q in MRD47. 1 PublicationCorresponds to variant dbSNP:rs1376334317Ensembl.1
Natural variantiVAR_079493478H → P in MRD47. 1 Publication1
Natural variantiVAR_079494979K → R in MRD47. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi10274
MalaCardsiSTAG1
MIMi617635 phenotype
OpenTargetsiENSG00000118007
Orphaneti502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
PharmGKBiPA36176

Polymorphism and mutation databases

BioMutaiSTAG1
DMDMi209572720

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001201821 – 1258Cohesin subunit SA-1Add BLAST1258

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei24PhosphoserineCombined sources1
Modified residuei756PhosphoserineCombined sources1
Modified residuei1062PhosphoserineCombined sources1
Modified residuei1065PhosphoserineBy similarity1
Modified residuei1093PhosphoserineCombined sources1
Cross-linki1161Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity).By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8WVM7
MaxQBiQ8WVM7
PaxDbiQ8WVM7
PeptideAtlasiQ8WVM7
PRIDEiQ8WVM7
ProteomicsDBi74804

PTM databases

iPTMnetiQ8WVM7
PhosphoSitePlusiQ8WVM7

Expressioni

Gene expression databases

BgeeiENSG00000118007 Expressed in 232 organ(s), highest expression level in intestine
CleanExiHS_STAG1
ExpressionAtlasiQ8WVM7 baseline and differential
GenevisibleiQ8WVM7 HS

Organism-specific databases

HPAiHPA035015
HPA058653

Interactioni

Subunit structurei

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).By similarity2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi115564, 35 interactors
CORUMiQ8WVM7
DIPiDIP-35421N
IntActiQ8WVM7, 21 interactors
MINTiQ8WVM7
STRINGi9606.ENSP00000372689

Structurei

3D structure databases

ProteinModelPortaliQ8WVM7
SMRiQ8WVM7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini296 – 381SCDPROSITE-ProRule annotationAdd BLAST86

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi684 – 687Poly-Asp4
Compositional biasi1065 – 1070Poly-Ser6

Sequence similaritiesi

Belongs to the SCC3 family.Curated

Phylogenomic databases

eggNOGiKOG2011 Eukaryota
COG5537 LUCA
GeneTreeiENSGT00390000014094
HOGENOMiHOG000231375
HOVERGENiHBG057636
InParanoidiQ8WVM7
KOiK06671
OMAiRWDLFGN
OrthoDBiEOG091G0195
PhylomeDBiQ8WVM7
TreeFamiTF314604

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR039662 Cohesin_Scc3/SA
IPR020839 SCD
IPR013721 STAG
PANTHERiPTHR11199 PTHR11199, 1 hit
PfamiView protein in Pfam
PF08514 STAG, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51425 SCD, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WVM7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MITSELPVLQ DSTNETTAHS DAGSELEETE VKGKRKRGRP GRPPSTNKKP
60 70 80 90 100
RKSPGEKSRI EAGIRGAGRG RANGHPQQNG EGEPVTLFEV VKLGKSAMQS
110 120 130 140 150
VVDDWIESYK QDRDIALLDL INFFIQCSGC RGTVRIEMFR NMQNAEIIRK
160 170 180 190 200
MTEEFDEDSG DYPLTMPGPQ WKKFRSNFCE FIGVLIRQCQ YSIIYDEYMM
210 220 230 240 250
DTVISLLTGL SDSQVRAFRH TSTLAAMKLM TALVNVALNL SIHQDNTQRQ
260 270 280 290 300
YEAERNKMIG KRANERLELL LQKRKELQEN QDEIENMMNS IFKGIFVHRY
310 320 330 340 350
RDAIAEIRAI CIEEIGVWMK MYSDAFLNDS YLKYVGWTLH DRQGEVRLKC
360 370 380 390 400
LKALQSLYTN RELFPKLELF TNRFKDRIVS MTLDKEYDVA VEAIRLVTLI
410 420 430 440 450
LHGSEEALSN EDCENVYHLV YSAHRPVAVA AGEFLHKKLF SRHDPQAEEA
460 470 480 490 500
LAKRRGRNSP NGNLIRMLVL FFLESELHEH AAYLVDSLWE SSQELLKDWE
510 520 530 540 550
CMTELLLEEP VQGEEAMSDR QESALIELMV CTIRQAAEAH PPVGRGTGKR
560 570 580 590 600
VLTAKERKTQ IDDRNKLTEH FIITLPMLLS KYSADAEKVA NLLQIPQYFD
610 620 630 640 650
LEIYSTGRME KHLDALLKQI KFVVEKHVES DVLEACSKTY SILCSEEYTI
660 670 680 690 700
QNRVDIARSQ LIDEFVDRFN HSVEDLLQEG EEADDDDIYN VLSTLKRLTS
710 720 730 740 750
FHNAHDLTKW DLFGNCYRLL KTGIEHGAMP EQIVVQALQC SHYSILWQLV
760 770 780 790 800
KITDGSPSKE DLLVLRKTVK SFLAVCQQCL SNVNTPVKEQ AFMLLCDLLM
810 820 830 840 850
IFSHQLMTGG REGLQPLVFN PDTGLQSELL SFVMDHVFID QDEENQSMEG
860 870 880 890 900
DEEDEANKIE ALHKRRNLLA AFSKLIIYDI VDMHAAADIF KHYMKYYNDY
910 920 930 940 950
GDIIKETLSK TRQIDKIQCA KTLILSLQQL FNELVQEQGP NLDRTSAHVS
960 970 980 990 1000
GIKELARRFA LTFGLDQIKT REAVATLHKD GIEFAFKYQN QKGQEYPPPN
1010 1020 1030 1040 1050
LAFLEVLSEF SSKLLRQDKK TVHSYLEKFL TEQMMERRED VWLPLISYRN
1060 1070 1080 1090 1100
SLVTGGEDDR MSVNSGSSSS KTSSVRNKKG RPPLHKKRVE DESLDNTWLN
1110 1120 1130 1140 1150
RTDTMIQTPG PLPAPQLTST VLRENSRPMG DQIQEPESEH GSEPDFLHNP
1160 1170 1180 1190 1200
QMQISWLGQP KLEDLNRKDR TGMNYMKVRT GVRHAVRGLM EEDAEPIFED
1210 1220 1230 1240 1250
VMMSSRSQLE DMNEEFEDTM VIDLPPSRNR RERAELRPDF FDSAAIIEDD

SGFGMPMF
Length:1,258
Mass (Da):144,427
Last modified:October 14, 2008 - v3
Checksum:iFAF911998EC52179
GO
Isoform 2 (identifier: Q8WVM7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1150-1186: Missing.

Note: No experimental confirmation available.
Show »
Length:1,221
Mass (Da):140,090
Checksum:iF0FAFDD544430F8F
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q68DW7Q68DW7_HUMAN
Cohesin subunit SA-1
STAG1 DKFZp781D1416
998Annotation score:
C9JJQ0C9JJQ0_HUMAN
Cohesin subunit SA-1
STAG1
232Annotation score:
F8WCB3F8WCB3_HUMAN
Cohesin subunit SA-1
STAG1
161Annotation score:
F8WF82F8WF82_HUMAN
Cohesin subunit SA-1
STAG1
101Annotation score:
H7C595H7C595_HUMAN
Cohesin subunit SA-1
STAG1
190Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti645S → N in CAA99731 (PubMed:9305759).Curated1
Sequence conflicti702H → Q in CAA99731 (PubMed:9305759).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079487214Q → R in MRD47. 1 Publication1
Natural variantiVAR_079488216R → G in MRD47. 1 Publication1
Natural variantiVAR_079489220H → R in MRD47. 1 PublicationCorresponds to variant dbSNP:rs1057519153Ensembl.1
Natural variantiVAR_079490333K → Q in MRD47. 1 Publication1
Natural variantiVAR_079491351L → W in MRD47. 1 Publication1
Natural variantiVAR_079492373R → Q in MRD47. 1 PublicationCorresponds to variant dbSNP:rs1376334317Ensembl.1
Natural variantiVAR_079493478H → P in MRD47. 1 Publication1
Natural variantiVAR_079494979K → R in MRD47. 1 Publication1
Natural variantiVAR_0469681132Q → H. Corresponds to variant dbSNP:rs34149860Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0544961150 – 1186Missing in isoform 2. 1 PublicationAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z75330 mRNA Translation: CAA99731.1
AC069514 Genomic DNA No translation available.
AC069524 Genomic DNA No translation available.
AC107425 Genomic DNA No translation available.
AC117382 Genomic DNA No translation available.
AC128712 Genomic DNA No translation available.
BC017735 mRNA Translation: AAH17735.1
BC064699 mRNA Translation: AAH64699.1
CCDSiCCDS3090.1 [Q8WVM7-1]
RefSeqiNP_005853.2, NM_005862.2 [Q8WVM7-1]
UniGeneiHs.412586

Genome annotation databases

EnsembliENST00000236698; ENSP00000236698; ENSG00000118007 [Q8WVM7-2]
ENST00000383202; ENSP00000372689; ENSG00000118007 [Q8WVM7-1]
GeneIDi10274
KEGGihsa:10274
UCSCiuc003era.2 human [Q8WVM7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z75330 mRNA Translation: CAA99731.1
AC069514 Genomic DNA No translation available.
AC069524 Genomic DNA No translation available.
AC107425 Genomic DNA No translation available.
AC117382 Genomic DNA No translation available.
AC128712 Genomic DNA No translation available.
BC017735 mRNA Translation: AAH17735.1
BC064699 mRNA Translation: AAH64699.1
CCDSiCCDS3090.1 [Q8WVM7-1]
RefSeqiNP_005853.2, NM_005862.2 [Q8WVM7-1]
UniGeneiHs.412586

3D structure databases

ProteinModelPortaliQ8WVM7
SMRiQ8WVM7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115564, 35 interactors
CORUMiQ8WVM7
DIPiDIP-35421N
IntActiQ8WVM7, 21 interactors
MINTiQ8WVM7
STRINGi9606.ENSP00000372689

PTM databases

iPTMnetiQ8WVM7
PhosphoSitePlusiQ8WVM7

Polymorphism and mutation databases

BioMutaiSTAG1
DMDMi209572720

Proteomic databases

EPDiQ8WVM7
MaxQBiQ8WVM7
PaxDbiQ8WVM7
PeptideAtlasiQ8WVM7
PRIDEiQ8WVM7
ProteomicsDBi74804

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000236698; ENSP00000236698; ENSG00000118007 [Q8WVM7-2]
ENST00000383202; ENSP00000372689; ENSG00000118007 [Q8WVM7-1]
GeneIDi10274
KEGGihsa:10274
UCSCiuc003era.2 human [Q8WVM7-1]

Organism-specific databases

CTDi10274
DisGeNETi10274
EuPathDBiHostDB:ENSG00000118007.12
GeneCardsiSTAG1
H-InvDBiHIX0030898
HGNCiHGNC:11354 STAG1
HPAiHPA035015
HPA058653
MalaCardsiSTAG1
MIMi604358 gene
617635 phenotype
neXtProtiNX_Q8WVM7
OpenTargetsiENSG00000118007
Orphaneti502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
PharmGKBiPA36176
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2011 Eukaryota
COG5537 LUCA
GeneTreeiENSGT00390000014094
HOGENOMiHOG000231375
HOVERGENiHBG057636
InParanoidiQ8WVM7
KOiK06671
OMAiRWDLFGN
OrthoDBiEOG091G0195
PhylomeDBiQ8WVM7
TreeFamiTF314604

Enzyme and pathway databases

ReactomeiR-HSA-1221632 Meiotic synapsis
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-2468052 Establishment of Sister Chromatid Cohesion
R-HSA-2470946 Cohesin Loading onto Chromatin
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-9018519 Estrogen-dependent gene expression

Miscellaneous databases

ChiTaRSiSTAG1 human
GeneWikiiSTAG1
GenomeRNAii10274
PROiPR:Q8WVM7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118007 Expressed in 232 organ(s), highest expression level in intestine
CleanExiHS_STAG1
ExpressionAtlasiQ8WVM7 baseline and differential
GenevisibleiQ8WVM7 HS

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR039662 Cohesin_Scc3/SA
IPR020839 SCD
IPR013721 STAG
PANTHERiPTHR11199 PTHR11199, 1 hit
PfamiView protein in Pfam
PF08514 STAG, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51425 SCD, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSTAG1_HUMAN
AccessioniPrimary (citable) accession number: Q8WVM7
Secondary accession number(s): O00539, Q6P275
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 25, 2003
Last sequence update: October 14, 2008
Last modified: November 7, 2018
This is version 156 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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