UBA1 (ubiquitin like modifier activating enzyme 1)

2003-08-01  

Identity

HGNC
LOCATION
Xp11.3
LOCUSID
ALIAS
A1S9,A1S9T,A1ST,AMCX1,CFAP124,GXP1,POC20,SMAX2,UBA1A,UBE1,UBE1X,VEXAS
FUSION GENES

Other Information

Locus ID:

NCBI: 7317
MIM: 314370
HGNC: 12469
Ensembl: ENSG00000130985

Variants:

dbSNP: 7317
ClinVar: 7317
TCGA: ENSG00000130985
COSMIC: UBA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130985ENST00000335972P22314
ENSG00000130985ENST00000335972A0A024R1A3
ENSG00000130985ENST00000377269Q5JRR6
ENSG00000130985ENST00000377351P22314
ENSG00000130985ENST00000377351A0A024R1A3
ENSG00000130985ENST00000412206Q5JRR9
ENSG00000130985ENST00000427561Q5JRS1
ENSG00000130985ENST00000442035Q5JRS0
ENSG00000130985ENST00000451702Q5JRS2
ENSG00000130985ENST00000457753Q5JRS3

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Parkinson's diseaseKEGGhsa05012
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
Protein ubiquitinationREACTOMER-HSA-8852135
Synthesis of active ubiquitin: roles of E1 and E2 enzymesREACTOMER-HSA-8866652

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
175977592007Dual E1 activation systems for ubiquitin differentially regulate E2 enzyme charging.122
181798982008Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.50
223704822012The ubiquitin E1 enzyme Ube1 mediates NEDD8 activation under diverse stress conditions.45
224563342012Ubiquitin-activating enzyme UBA1 is required for cellular response to DNA damage.26
264320192015UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration.24
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.17
222795282012Largazole and its derivatives selectively inhibit ubiquitin activating enzyme (e1).16
165956812006Pleiotropic effects of ATP.Mg2+ binding in the catalytic cycle of ubiquitin-activating enzyme.15
170606142006Impaired nucleotide excision repair upon macrophage differentiation is corrected by E1 ubiquitin-activating enzyme.15
281342492017Orthogonal ubiquitin transfer identifies ubiquitination substrates under differential control by the two ubiquitin activating enzymes.15

Citation

Dessen P

UBA1 (ubiquitin like modifier activating enzyme 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42744/uba1