UBA2 (ubiquitin like modifier activating enzyme 2)

2012-02-01  

Identity

HGNC
LOCATION
19q13.11
LOCUSID
ALIAS
ARX,HRIHFB2115,SAE2
FUSION GENES

Other Information

Locus ID:

NCBI: 10054
MIM: 613295
HGNC: 30661
Ensembl: ENSG00000126261

Variants:

dbSNP: 10054
ClinVar: 10054
TCGA: ENSG00000126261
COSMIC: UBA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126261ENST00000246548Q9UBT2
ENSG00000126261ENST00000439527Q9UBT2
ENSG00000126261ENST00000586313K7ES38
ENSG00000126261ENST00000590048K7EPL2
ENSG00000126261ENST00000591016K7ESK7
ENSG00000126261ENST00000592791U3KQ93
ENSG00000126261ENST00000607361U3KQ55

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
Processing and activation of SUMOREACTOMER-HSA-3215018
SUMO is conjugated to E1 (UBA2:SAE1)REACTOMER-HSA-3065676
SUMO is transferred from E1 to E2 (UBE2I, UBC9)REACTOMER-HSA-3065678

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
221570792012A SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis.167
156601282005Structures of the SUMO E1 provide mechanistic insights into SUMO activation and E2 recruitment to E1.103
230957572012Sumoylation of SAE2 C terminus regulates SAE nuclear localization.17
228846212012Anti-SAE antibodies in autoimmune myositis: identification by unlabelled protein immunoprecipitation in an Italian patient cohort.16
224033982012Small ubiquitin-like modifier (SUMO) modification of E1 Cys domain inhibits E1 Cys domain enzymatic activity.14
186805932008APOBEC3G-UBA2 fusion as a potential strategy for stable expression of APOBEC3G and inhibition of HIV-1 replication.4
243189822014Binding of HIV-1 Vpr protein to the human homolog of the yeast DNA repair protein RAD23 (hHR23A) requires its xeroderma pigmentosum complementation group C binding (XPCB) domain as well as the ubiquitin-associated 2 (UBA2) domain.4
281105152017Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.4
292318102017Shigella entry unveils a calcium/calpain-dependent mechanism for inhibiting sumoylation.4
297449312018Knockdown of Uba2 inhibits colorectal cancer cell invasion and migration through downregulation of the Wnt/β-catenin signaling pathway.4

Citation

Dessen P

UBA2 (ubiquitin like modifier activating enzyme 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-02-01

Online version: http://atlasgeneticsoncology.org/gene/52587/uba2