UBA2
SUMO-activating enzyme subunit 2
Also known as: FLJ13058, HRIHFB2115, SAE2, SAE2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UBT2
- Gene
- UBA2
- Ensembl
- ENSG00000126261
- Chromosome
- 19
- Canonical length
- 640 aa
- Protein class
- Disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm
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 (MIM 613294) and UBA2 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
640 residues, UniProt reviewed canonical sequence.
>Q9UBT2|UBA2
1 MALSRGLPRE LAEAVAGGRV LVVGAGGIGC ELLKNLVLTG FSHIDLIDLD TIDVSNLNRQ
61 FLFQKKHVGR SKAQVAKESV LQFYPKANIV AYHDSIMNPD YNVEFFRQFI LVMNALDNRA
121 ARNHVNRMCL AADVPLIESG TAGYLGQVTT IKKGVTECYE CHPKPTQRTF PGCTIRNTPS
181 EPIHCIVWAK YLFNQLFGEE DADQEVSPDR ADPEAAWEPT EAEARARASN EDGDIKRIST
241 KEWAKSTGYD PVKLFTKLFK DDIRYLLTMD KLWRKRKPPV PLDWAEVQSQ GEETNASDQQ
301 NEPQLGLKDQ QVLDVKSYAR LFSKSIETLR VHLAEKGDGA ELIWDKDDPS AMDFVTSAAN
361 LRMHIFSMNM KSRFDIKSMA GNIIPAIATT NAVIAGLIVL EGLKILSGKI DQCRTIFLNK
421 QPNPRKKLLV PCALDPPNPN CYVCASKPEV TVRLNVHKVT VLTLQDKIVK EKFAMVAPDV
481 QIEDGKGTIL ISSEEGETEA NNHKKLSEFG IRNGSRLQAD DFLQDYTLLI NILHSEDLGK
541 DVEFEVVGDA PEKVGPKQAE DAAKSITNGS DDGAQPSTST AQEQDDVLIV DSDEEDSSNN
601 ADVSEEERSR KRKLDEKENL SAKRSRIEQK EELDDVIALDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UBA2 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)
- 0.32
- Highest tissue expression
- 137 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 137 nTPM
- skeletal muscle: 105 nTPM
- adipose tissue: 87 nTPM
- testis: 86 nTPM
- cerebellum: 67 nTPM
- breast: 66 nTPM
Single-cell type
- vascular smooth muscle cells: 388 nCPM
- pericytes: 320 nCPM
- myonuclei: 283 nCPM
- melanocytes: 274 nCPM
- early primary spermatocytes: 262 nCPM
- differentiating spermatogonia: 257 nCPM
Immune cell
- naive CD4 T-cell: 12 nTPM
- memory CD8 T-cell: 11 nTPM
- plasmacytoid DC: 10 nTPM
- MAIT T-cell: 10 nTPM
- memory CD4 T-cell: 9.5 nTPM
- naive CD8 T-cell: 9.4 nTPM
Brain region
- cerebellum: 51 nTPM
- white matter: 42 nTPM
- midbrain: 40 nTPM
- hypothalamus: 40 nTPM
- thalamus: 38 nTPM
- cerebral cortex: 37 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UBA2.
Disease | AllUniProt
Conditions UBA2 is implicated in, by any mechanism.
- ACCES syndrome (ACCES) MIM:619959
Disease | GeneticClinVar
29 pathogenic / likely-pathogenic of 138 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- ACCES syndrome
- UBA2-related disorder
- Inborn genetic diseases
- Chromosome 19q13.11 deletion syndrome, distal
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)
- 0.24
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.61
- DepMap mean gene effect
- -1.19
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- ATP binding
- magnesium ion binding
- protein heterodimerization activity
- small protein activating enzyme binding
- SUMO binding
- transferase activity
- ubiquitin-like protein conjugating enzyme binding
- SUMO activating enzyme activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- THIF-type NAD/FAD binding fold
- Ubiquitin-activating enzyme E1, conserved site
- Ubiquitin activating enzyme, alpha domain superfamily
- Ubiquitin-activating enzyme E1, Cys active site
- Ubiquitin-activating enzyme-like
- Ubiquitin-activating enzyme E1, inactive adenylation domain, subdomain 1
- ThiF/MoeB/HesA family
- ThiF family
- Ubiquitin/SUMO-activating enzyme ubiquitin-like domain
- SUMO-activating enzyme subunit Uba2
- SUMO-activating enzyme subunit 2, C-terminal domain
- Ubiquitin/SUMO-activating enzyme ubiquitin-like domain
- SUMO-activating enzyme subunit 2 C-terminus
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UBA2 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 UBA2 as an antibody target. Whether an autoantibody or antibody against UBA2 could matter depends on whether native UBA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UBA2 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 UBA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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