Seroatlas · Human Serome Atlas

STAG1

Cohesin subunit SA-1

Also known as: SA-1, SA1, SCC3A, STAG1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WVM7
Gene: STAG1
Ensembl: ENSG00000118007
Chromosome: 3
Canonical length: 1258 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear bodies,Primary cilium

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1258 residues, UniProt reviewed canonical sequence.

>Q8WVM7|STAG1
     1  MITSELPVLQ DSTNETTAHS DAGSELEETE VKGKRKRGRP GRPPSTNKKP RKSPGEKSRI
    61  EAGIRGAGRG RANGHPQQNG EGEPVTLFEV VKLGKSAMQS VVDDWIESYK QDRDIALLDL
   121  INFFIQCSGC RGTVRIEMFR NMQNAEIIRK MTEEFDEDSG DYPLTMPGPQ WKKFRSNFCE
   181  FIGVLIRQCQ YSIIYDEYMM DTVISLLTGL SDSQVRAFRH TSTLAAMKLM TALVNVALNL
   241  SIHQDNTQRQ YEAERNKMIG KRANERLELL LQKRKELQEN QDEIENMMNS IFKGIFVHRY
   301  RDAIAEIRAI CIEEIGVWMK MYSDAFLNDS YLKYVGWTLH DRQGEVRLKC LKALQSLYTN
   361  RELFPKLELF TNRFKDRIVS MTLDKEYDVA VEAIRLVTLI LHGSEEALSN EDCENVYHLV
   421  YSAHRPVAVA AGEFLHKKLF SRHDPQAEEA LAKRRGRNSP NGNLIRMLVL FFLESELHEH
   481  AAYLVDSLWE SSQELLKDWE CMTELLLEEP VQGEEAMSDR QESALIELMV CTIRQAAEAH
   541  PPVGRGTGKR VLTAKERKTQ IDDRNKLTEH FIITLPMLLS KYSADAEKVA NLLQIPQYFD
   601  LEIYSTGRME KHLDALLKQI KFVVEKHVES DVLEACSKTY SILCSEEYTI QNRVDIARSQ
   661  LIDEFVDRFN HSVEDLLQEG EEADDDDIYN VLSTLKRLTS FHNAHDLTKW DLFGNCYRLL
   721  KTGIEHGAMP EQIVVQALQC SHYSILWQLV KITDGSPSKE DLLVLRKTVK SFLAVCQQCL
   781  SNVNTPVKEQ AFMLLCDLLM IFSHQLMTGG REGLQPLVFN PDTGLQSELL SFVMDHVFID
   841  QDEENQSMEG DEEDEANKIE ALHKRRNLLA AFSKLIIYDI VDMHAAADIF KHYMKYYNDY
   901  GDIIKETLSK TRQIDKIQCA KTLILSLQQL FNELVQEQGP NLDRTSAHVS GIKELARRFA
   961  LTFGLDQIKT REAVATLHKD GIEFAFKYQN QKGQEYPPPN LAFLEVLSEF SSKLLRQDKK
  1021  TVHSYLEKFL TEQMMERRED VWLPLISYRN SLVTGGEDDR MSVNSGSSSS KTSSVRNKKG
  1081  RPPLHKKRVE DESLDNTWLN RTDTMIQTPG PLPAPQLTST VLRENSRPMG DQIQEPESEH
  1141  GSEPDFLHNP QMQISWLGQP KLEDLNRKDR TGMNYMKVRT GVRHAVRGLM EEDAEPIFED
  1201  VMMSSRSQLE DMNEEFEDTM VIDLPPSRNR RERAELRPDF FDSAAIIEDD SGFGMPMF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against STAG1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

thymus: 21 nTPM
endometrium: 18 nTPM
ovary: 18 nTPM
placenta: 17 nTPM
cervix: 16 nTPM
smooth muscle: 15 nTPM

Single-cell type

neutrophils: 1,432 nCPM
neutrophil progenitors: 769 nCPM
fibro-adipogenic progenitors: 765 nCPM
myonuclei: 690 nCPM
microglia: 613 nCPM
endometrial stromal cells: 608 nCPM

Immune cell

neutrophil: 8.8 nTPM
memory B-cell: 6.5 nTPM
NK-cell: 5.5 nTPM
T-reg: 4.8 nTPM
eosinophil: 4.7 nTPM
MAIT T-cell: 4.6 nTPM

Brain region

cerebellum: 37 nTPM
white matter: 25 nTPM
choroid plexus: 23 nTPM
medulla oblongata: 22 nTPM
spinal cord: 21 nTPM
hypothalamus: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about STAG1.

Disease | AllUniProt

Conditions STAG1 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal dominant 47 (MRD47) MIM:617635

Disease | GeneticClinVar

55 pathogenic / likely-pathogenic of 695 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal dominant 47
STAG1-related disorder
Inborn genetic diseases
Neurodevelopmental disorder
Global developmental delay

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.12
gnomAD pLI: 1
gnomAD missense Z: 4.44
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

chromatin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of STAG1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads STAG1 as an antibody target. Whether an autoantibody or antibody against STAG1 could matter depends on whether native STAG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

STAG1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label STAG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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