UBA1 gene homepage

General information
Gene symbol UBA1
Gene name ubiquitin-like modifier activating enzyme 1
Chromosome X
Chromosomal band p11.23
Imprinted Unknown
Genomic reference NG_009161.1
Transcript reference NM_003334.3
Exon/intron information NM_003334.3 exon/intron table
Associated with diseases SMAX-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 71
Unique public DNA variants reported 50
Individuals with public variants 32
Hidden variants 5
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 08, 2009
Date last updated September 15, 2020
Version UBA1:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_003334.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/UBA1
External URL Orphanet
HGNC 12469
Entrez Gene 7317
PubMed articles UBA1
OMIM - Gene 314370
OMIM - Diseases SMAX-2 (atrophy, muscular, spinal, X-linked, type 2, infantile (SMAX-2, arthrogryposis multiplex congenita, distal, X-linked))
GeneCards UBA1
GeneTests UBA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000501 X transcript variant 1 NM_003334.3 NP_003325.2 71

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.