UBA1 Gene
protein-coding GIFtS : 60
GC0XP046936
ubiquitin-like modifier activating enzyme 1 (Previous names: ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing), ubiquitin-activating enzyme E1 )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbols: A1S9T, GXP1, UBE1 )
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Aliases & Descriptions for UBA1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases A1S9 2 A1S9T 2 , 3 A1ST 2 AMCX1 2 GXP1 2 MGC4781 2 OTTHUMP00000023197 2 OTTHUMP00000023198 2 SMAX2 2 UBA1A 2 UBE1 2 , 3 UBE1X 1 , 2
Descriptions A1S9T and BN75 temperature sensitivity complementing 2 Protein A1S9 3 UBA1, ubiquitin-activating enzyme E1 homolog A 2 Ubiquitin-activating enzyme E1 1 , 2 , 3 ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing) 1 ubiquitin-like modifier activating enzyme 1 2
Search outside databases for aliases for UBA1 gene
Summaries for UBA1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for UBA1 : The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellularproteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect inDNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosomeXp11.23. Alternatively spliced transcript variants that encode the same protein have beendescribed. [provided by RefSeq] UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314 Function : Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, andthereafter linking this residue to the side chain of a cysteine residue in E1, yielding anubiquitin-E1 thioester and free AMP
Genomic Location for UBA1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: Xp11.23 Ensembl cytogenetic band: Xp11.3 HGNC cytogenetic band: Xp11.23 UBA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XP046936:
(about GC identifiers )
Start:
46,935,204 bp from pter
End:
46,959,471 bp from pter
Size:
24,268 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000023.9 NT_079573.3 Proteins for UBA1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314 (See
protein sequence )Recommended Name: Ubiquitin-like modifier-activating enzyme 1 Size : 1058 amino acids; 117849 Da
Subunit : Monomer (By similarity). Interacts with GAN (via BTB domain)
Miscellaneous : There are two active sites within the E1 molecule, allowing it to accommodate twoubiquitin moieties at a time, with a new ubiquitin forming an adenylate intermediate as theprevious one is transferred to the thiol site
Secondary accessions : Q5JRR8 Q96E13
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_003325.2 NP_695012.1 ENSEMBL proteins: ENSP00000338413 ENSP00000366481 ENSP00000366568 ENSP00000366483 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for UBA1: Assays for UBA1:
Protein
Domains/ Families for UBA1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P22314 ProtoNet protein and cluster: P22314
2 Blocks protein families : IPB000011 Ubiquitin-activating enzyme IPB000594 UBA/THIF-type NAD/FAD binding fold UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314 Similarity : Belongs to the ubiquitin-activating E1 family
Gene Function for UBA1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_003334 Applied Biosystems Silencer ® siRNAs for UBA1 Sigma-Aldrich siRNA and siRNA Panels for UBA1 Sigma-Aldrich shRNA Panels and shRNA for UBA1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_003334                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_003334                                  untagged cDNA clones in CMV expression vector (see all 5 ): AF258566  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003334 UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314 Function : Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, andthereafter linking this residue to the side chain of a cysteine residue in E1, yielding anubiquitin-E1 thioester and free AMP
5 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for UBA1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for UBA1 (Your Favorite Gene powered by Ingenuity) UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314 Pathway : Protein modification; protein ubiquitination
Gene Network CentralTM Interacting Genes and Proteins Network for UBA1 5/39 Interacting proteins for UBA1 (P22314 1 , 2 ENSP00000338413 3 ) via UniProtKB, MINT, and/or STRING (see all 39
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006464 protein modification process
IEA -- GO:0008152 metabolic process
IEA -- GO:0019941 modification-dependent protein catabolic process
IEA --
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Drugs & Compounds for UBA1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for UBA1
Transcripts for UBA1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_003334 Sigma-Aldrich siRNA and siRNA Panels for UBA1 Sigma-Aldrich shRNA Panels and shRNA for UBA1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_003334 NM_153280
REFSEQ mRNAs for UBA1 gene (2 alternative transcripts): NM_003334.3 NM_153280.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_003334 NM_153280
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_003334                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_003334                                  untagged cDNA clones in CMV expression vector (see all 5 ): AF258566  
Additional cDNA sequence: AK293161.1 AK296866.1 BC009900.2 BC013041.2 BC020261.1 CR594399.1 CR596473.1 CR600825.1 CR621823.1 M58028.1 X52897.1 X56976.1
24/54 DOTS entries (see all 54
): DT.91781965 DT.97775942 DT.450733 DT.95128992 DT.91781983 DT.97766500 DT.91786933 DT.100885038 DT.101970629 DT.100885069 DT.121314245 DT.91752333 DT.100885053 DT.95362864 DT.100885068 DT.75158289 DT.100885034 DT.100885065 DT.86853428 DT.100032930 DT.91781976 DT.91788914 DT.95128993 DT.100838668
24/826 AceView cDNA sequences (see all 826
):BX346007 F36171 F27144 CF121741 BU627536 BQ636342 BU069243 BQ071029 BE560798 BM708217 BU522072 CA442849 AA337777 AW502691 BC009900 BQ070361 CA306322 CR621823 BE546212 BM694877 AW880844 BG289248 BM756338 BM852847
Unigene Cluster for UBA1: Ubiquitin-like modifier activating enzyme 1 Hs.533273 [show with all ESTs ] Unigene Representative Sequence: NM_003334 GeneLoc Exon Structure 5/30 Alternative Splicing Database (ASD) splice patterns (SP) for UBA1 (see all 30
) ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ SP1 :                     -     -   -   -   -   -                     SP2 :                     -   -   -   -   -   -   -                     SP3 :                                 -                     SP4 :                                                     SP5 :                     -   -   -   -   -     -                    
ExUns: 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24a · 24b ^ 25a · SP1 :                                                     SP2 :                                                     SP3 :                                                     SP4 :                                                     SP5 :                                                    
ExUns: 25b · 25c · 25d ^ 26a · 26b · 26c ^ 27a · 27b · 27c ^ 28a · 28b · 28c · 28d ^ 29 ^ 30a · 30b · 30c ^ 31a · 31b ^ 32 ^ 33a · 33b SP1 :                                             SP2 :                                             SP3 :                                             SP4 :                   -   -                         SP5 :                                            
About this scheme ECgene alternative splicing isoforms for UBA1 4 Ensembl transcripts including schematic representations : ENST00000335972
ENST00000377269
ENST00000377351
ENST00000377271
Expression for UBA1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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UBA1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for UBA1 1 / 2
5 probe-sets matching UBA1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCAGCTGCCASOURCE GeneReport for Unigene cluster: Hs.533273
Orthologs for UBA1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for UBA1 gene from 5/25 species (see all 25
)
About this table Species with no ortholog for UBA1 ENSEMBL Gene Tree for UBA1 Paralogs for UBA1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for UBA1 gene UBA6 2 UBA7 2
SNPs/Variants for UBA1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for UBA1 (up to first 250kb)
Disorders & Mutations for UBA1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 314370 UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314
Defects in UBA1 are the cause of spinal muscular atrophy X-linked type 2 (SMAX2)[MIM:301830]; also known as X-linked lethal infantile spinal muscular atrophy, distal X-linkedarthrogryposis multiplex congenita or X-linked arthrogryposis type 1 (AMCX1). Spinal muscularatrophy refers to a group of neuromuscular disorders characterized by degeneration of the anteriorhorn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX2 is alethal infantile form presenting with hypotonia, areflexia, and multiple congenital contractures
GeneTests: UBA1 Spinal Muscular Atrophy Human Gene Mutation Database : UBA1 Human Genome Epidemiology Navigator: UBA1 (0 documents)
Medical News for UBA1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for UBA1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/56 PubMed articles for UBA1 gene (see all 56
): Rare missense and synonymous variants in UBE1 are associated with X- linked infantile spinal muscular atrophy. (PubMed id 18179898) 3, 4 Ramser J.... Baumbach-Reardon L. (2008) A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243) 3, 4 Beausoleil S.A.... Gygi S.P. (2006) Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival. (PubMed id 16227972) 3, 4 Allen E....Yang Y. (2005) Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455) 3, 4 Rush J.... Comb M.J. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935) 3, 4 Beausoleil S.A....Gygi S.P. (2004) Complementation by a cloned human ubiquitin-activating enzyme E1 of the S-phase-arrested mouse FM3A cell mutant with thermolabile E1. (PubMed id 1606621) 3, 4 Ayusawa D.... Seno T. (1992) Molecular cloning, sequence, and tissue distribution of the human ubiquitin-activating enzyme E1. (PubMed id 1871145) 3, 4 (1991) Human ubiquitin-activating enzyme (E1): compensation for heat-labile mouse E1 and its gene localization on the X chromosome. (PubMed id 1845793) 2, 3 Kudo M....Ui M. (1991) Molecular cloning, sequence, and tissue distribution of the human ubiquitin-activating enzyme E1. (PubMed id 1986373) 3, 4 Handley P.M.... Schwartz A.L. (1991)
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Genome Databases showing UBA1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing UBA1
(According to HUGE )
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Specialized Databases showing UBA1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for UBA1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for UBA1:
Antibodies & Assays for UBA1   (UBE1)
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009