Seroatlas · Human Serome Atlas

SAE1

SUMO-activating enzyme subunit 1

Also known as: AOS1, FLJ3091, SAE1_HUMAN, Sua1

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

Protein identityUniProt · HPA

UniProt accession
Q9UBE0
Gene
SAE1
Ensembl
ENSG00000142230
Chromosome
19
Canonical length
346 aa
Protein class
Metabolic proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]

Canonical amino-acid sequenceUniProt

346 residues, UniProt reviewed canonical sequence.

>Q9UBE0|SAE1
     1  MVEKEEAGGG ISEEEAAQYD RQIRLWGLEA QKRLRASRVL LVGLKGLGAE IAKNLILAGV
    61  KGLTMLDHEQ VTPEDPGAQF LIRTGSVGRN RAEASLERAQ NLNPMVDVKV DTEDIEKKPE
   121  SFFTQFDAVC LTCCSRDVIV KVDQICHKNS IKFFTGDVFG YHGYTFANLG EHEFVEEKTK
   181  VAKVSQGVED GPDTKRAKLD SSETTMVKKK VVFCPVKEAL EVDWSSEKAK AALKRTTSDY
   241  FLLQVLLKFR TDKGRDPSSD TYEEDSELLL QIRNDVLDSL GISPDLLPED FVRYCFSEMA
   301  PVCAVVGGIL AQEIVKALSQ RDPPHNNFFF FDGMKGNGIV ECLGPK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SAE1 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)
0.28
Highest tissue expression
51 nTPM

Expression across tissuesHPA

Tissue

  • colon: 51 nTPM
  • testis: 35 nTPM
  • cerebral cortex: 34 nTPM
  • thymus: 34 nTPM
  • urinary bladder: 34 nTPM
  • blood vessel: 32 nTPM

Single-cell type

  • enterocytes: 296 nCPM
  • early primary spermatocytes: 247 nCPM
  • oocytes: 193 nCPM
  • migrating cytotrophoblasts: 144 nCPM
  • paneth cells: 135 nCPM
  • extravillous trophoblasts: 134 nCPM

Immune cell

  • naive CD4 T-cell: 70 nTPM
  • T-reg: 70 nTPM
  • total PBMC: 65 nTPM
  • NK-cell: 64 nTPM
  • basophil: 56 nTPM
  • naive CD8 T-cell: 55 nTPM

Brain region

  • cerebral cortex: 35 nTPM
  • hypothalamus: 32 nTPM
  • white matter: 29 nTPM
  • midbrain: 28 nTPM
  • pons: 28 nTPM
  • medulla oblongata: 28 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SAE1.

Disease | AutoantibodyPubMed

Conditions in which antibodies against SAE1 are reported. Each links to that disease's full target list.

ReferencesPubMed · IEDB

Publications for SAE1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

7 publications

Show 2 more

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.27
gnomAD pLI
0.99
gnomAD missense Z
0.56
DepMap mean gene effect
-1.28
DepMap dependency class
common

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SAE1 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 SAE1 as an antibody target. Whether an autoantibody or antibody against SAE1 could matter depends on whether native SAE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SAE1 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 SAE1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SAE1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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