UBA1 Gene
protein-coding GIFtS: 66
GCID: GC0XP047050
|
|
ubiquitin-like modifier activating enzyme 1(Previous names: ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature...)
(Previous symbols: A1S9T, GXP1, UBE1)
| |
Aliases
for UBA1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ubiquitin-Like Modifier Activating Enzyme 11 2 | | SMAX22 5 | | UBE11 2 3 5 | | Ubiquitin-Activating Enzyme E1 (A1S9T And BN75 Temperature SensitivityComplementing)1 | | A1S9T1 2 3 | | A1S92 | | GXP11 2 5 | | UBA1A2 | | POC201 2 | | A1S9T And BN75 Temperature Sensitivity Complementing2 | | UBE1X1 2 | | POC20 Centriolar Protein Homolog2 | | Ubiquitin-Activating Enzyme E11 3 | | UBA1, Ubiquitin-Activating Enzyme E1 Homolog A2 | | A1ST2 5 | | Ubiquitin-Like Modifier-Activating Enzyme 12 | | AMCX12 5 | | Protein A1S93 |
Export aliases for UBA1 gene to outside databasesPrevious GC identifers: GC0XP046936 GC0XP044761 |
Summaries
for UBA1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for UBA1:
The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins fordegradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus mayfunction in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variantsthat encode the same protein have been described. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314Function: Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking thisresidue to the side chain of a cysteine residue in E1, yielding an ubiquitin-E1 thioester and free AMP
Gene Wiki entry for UBA1 (UBE1)
|
Genomic Views
for UBA1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_079573.4
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the UBA1 gene promoter:
p53 E2F-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for UBA1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBA1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp11.23 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.23UBA1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP047050: view genomic region
(about GC identifiers)
Start:
|
47,050,199 bp from pter |
End:
|
47,074,527 bp from pter |
Size:
|
24,329 bases |
Orientation:
|
plus strand |
|
Proteins
for UBA1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 two ubiquitin moieties ata time, with a new ubiquitin forming an adenylate intermediate as the previous one is transferred to the thiol site
Secondary accessions: Q5JRR8 Q96E13Explore the universe of human proteins at neXtProt for UBA1: NX_P22314
Post-translational modifications:
ISGylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P22314
UBA1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_003325.2 NP_695012.1
ENSEMBL proteins: ENSP00000366568 ENSP00000415033 ENSP00000397816 ENSP00000389583 ENSP00000404796 ENSP00000338413 ENSP00000401101 ENSP00000366481 Reactome Protein details: P22314
Human Recombinant Protein Products:
UBA1 Antibody Products:
Assay Products for UBA1: |
Protein
Domains /
Families
for UBA1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
UBA1 for domains About GeneDecksing
5/10 InterPro domains/families (see all 10):Graphical View of Domain Structure for InterPro Entry P22314ProtoNet 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, P22314Similarity: Belongs to the ubiquitin-activating E1 family |
Function
for UBA1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314Function: Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking thisresidue to the side chain of a cysteine residue in E1, yielding an ubiquitin-E1 thioester and free AMP
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UBA1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UBA1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): UBA1 (NM_153280) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for UBA1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBA1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA1 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
UBA1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for UBA1:
|
Pathways & Interactions
for UBA1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway | | | 2 | Antigen processing: Ubiquitination & Proteasome degradation | | | 3 | Cell cycle_Role of SCF complex in cell cycle regulation | | | 4 | Immune System | | | 5 | Proteolysis Putative ubiquitin pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4 EMD Millipore Pathways for UBA1
1 
Cell Signaling Technology (CST) Pathway for UBA1
5  GeneGo (Thomson Reuters) Pathways for UBA1
3  BioSystems Pathways for UBA1
4 
Reactome Pathways for UBA1
2 
Kegg Pathways (Kegg details for UBA1):
UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314Pathway: Protein modification; protein ubiquitination
UBA1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBA1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/263 Interacting proteins for UBA1 (P223141, 2, 3 ENSP000003384134) via UniProtKB, MINT, STRING, and/or I2D (see all 263)
About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006464 | cellular protein modification process |
-- | -- | | GO:0008219 | cell death |
IEA | -- | | GO:0016567 | protein ubiquitination |
IEA | -- |
UBA1 for ontologies About GeneDecksing
|
Drugs & Compounds
for UBA1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for UBA1
4 HMDB Compounds for UBA1 About this table
1 DrugBank Compound for UBA1 About this table
Search CenterWatch for drugs/clinical trials and news about UBA1
|
Transcripts
for UBA1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for UBA1 gene (2 alternative transcripts): NM_003334.3 NM_153280.2 Unigene Cluster for UBA1: Ubiquitin-like modifier activating enzyme 1 Hs.533273 [show with all ESTs]Unigene Representative Sequence: NM_0033349 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000377351(uc004dhj.4) ENST00000412206 ENST00000427561 ENST00000442035
ENST00000457753 ENST00000335972(uc004dhk.4) ENST00000451702 ENST00000490869
ENST00000377269(uc004dhm.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UBA1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UBA1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): UBA1 (NM_153280) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for UBA1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBA1 |
Additional cDNA sequence: AK293161.1 AK296866.1 BC009900.2 BC013041.2 BC020261.1 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.100885069 DT.101970629 DT.100885053 DT.95362864 DT.91752333 DT.100885068 DT.121314245 DT.100885034 DT.100885065 DT.100032930 DT.86853428 DT.91781976 DT.91788914 DT.95128993 DT.100838668 DT.100885049 24/826 AceView cDNA sequences (see all 826): BQ070361 BE560798 BE898530 CA442849 AA371871 BQ028787 BM749288 BM707693 BQ432270 BQ433693 BQ681538 BG661037 BM045572 CB216715 BE546212 BI088058 BI870759 BM766812 BM757561 BE304402 BQ710857 BQ716461 BC020261 BM466047
GeneLoc Exon Structure
5/30 Alternative Splicing Database (ASD) splice patterns (SP) for UBA1 (see all 30) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for UBA1
|
Expression
for UBA1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| UBA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGCTGCCA
About this image
See UBA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UBA1
SOURCE GeneReport for Unigene cluster: Hs.533273
SABiosciences Expression via Pathway-Focused PCR Arrays including UBA1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UBA1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UBA1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UBA1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UBA1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA1 |
Orthologs
for UBA1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for UBA1 gene from 8/38 species (see all 38) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
UBA16 |
-- |
80(a) |
1 ↔ 1 |
2(68731357-68747474) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BC047256.12 |
-- |
78.8(n) |
|
BC047256.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.288452 |
Danio rerio cDNA clone MGC66143 IMAGE3819484, complete more |
78.48(n) |
|
BC060674.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Uba11 |
Ubiquitin activating enzyme 1 |
61.7(n)
61.64(a) |
|
35998 NM_057962.4 NP_477310.2 |
worm
(Caenorhabditis elegans) |
Secernentea |
uba-11 |
Protein UBA-1 |
54.07(n)
51.2(a) |
|
177855 NM_001038315.4 NP_001033404.1 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
UBA1(YKL210W)4
UBA11 |
Ubiquitin activating enzyme (E1), involved in ubiquitin-mediated more4
Uba1p1 |
54.57(n)1
53.77(a)1 |
|
11(39163-42237)4
8536701, 4 NP_012712.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
UBA 26ATUBA16 |
ubiquitin-activating enzyme E1 1 |
43(a)42(a) |
possible orthologpossible ortholog |
5(1970029-1974527) 2(12852372-12857617) |
rice
(Oryza sativa) |
Liliopsida |
Os.337992 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
74.47(n) |
|
AK074007.1 |
ENSEMBL Gene Tree for UBA1 (if available)
TreeFam Gene Tree for UBA1 (if available) |
Paralogs
for UBA1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for UBA1 gene
- UBA62 UBA72
13 SIMAP similar genes for UBA1 using alignment to 7 protein entries: UBA1_HUMAN (see all proteins):UBE1 DNAPTP3 FAM138D OK/SW-cl.41 FAM138A FAM138B
FAM138C FAM138F KIAA1651 UBA7 SAE1 UBA6
FP6651
UBA1 for paralogs About GeneDecksing
|
Genomic Variants
for UBA1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for UBA1 (47050199 - 47074527 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for UBA1: --
Human Gene Mutation Database (HGMD): UBA1
Locus Specific Mutation Databases (LSDB): UBA1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UBA1 |
|
Disorders
/ Diseases
for UBA1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
UBA1 for disorders About GeneDecksing
OMIM gene information: 314370
OMIM disorders: 301830
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 asX-linked lethal infantile spinal muscular atrophy, distal X-linked arthrogryposis multiplex congenita or X-linkedarthrogryposis type 1 (AMCX1). Spinal muscular atrophy refers to a group of neuromuscular disorders characterized bydegeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX2is a lethal infantile form presenting with hypotonia, areflexia, and multiple congenital contractures
19  diseases for UBA1: About MalaCardsspinal muscular atrophy, x-linked 2, infantile spinal muscular atrophy, x-linked infantile spinal muscular atrophy muscular atrophy
wallerian degeneration x inactivation rett syndrome fanconi's anemia
cockayne syndrome rheumatoid arthritis hypotonia parkinson's disease
anemia arthritis ataxia hypertension
hypoxia malaria neuronitis
GeneTests: UBA1
Spinal Muscular Atrophy, X-Linked Infantile
Human Genome Epidemiology (HuGE) Navigator: UBA1 (1 document)
Export disorders for UBA1 gene to outside databases
|
Publications
for UBA1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for UBA1 gene, integrated from 9 sources (see all 106):
(articles sorted by number of sources associating them with UBA1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Rare missense and synonymous variants in UBE1 are associated with X- linked infantile spinal muscular atrophy. (PubMed id 18179898)1, 2 Ramser J.... Baumbach-Reardon L. (2008)
- Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
- Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival. (PubMed id 16227972)1, 2 Allen E....Yang Y. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (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)1, 2 Ayusawa D.... Seno T. (1992)
- Human ubiquitin-activating enzyme (E1): compensation for heat-labile mouse E1 and its gene localization on the X chromosome. (PubMed id 1845793)1, 3 Kudo M....Ui M. (1991)
- Molecular cloning, sequence, and tissue distribution of the human ubiquitin-activating enzyme E1. (PubMed id 1986373)1, 2 Handley P.M.... Schwartz A.L. (1991)
- Molecular cloning, sequence, and tissue distribution of the human ubiquitin-activating enzyme E1. (PubMed id 1871145)1, 2 (1991)
- Molecular cloning, primary structure and expression of the human X linked A1S9 gene cDNA which complements the ts A1S9 mouse L cell defect in DNA replication. (PubMed id 2390975)1, 2 Zacksenhaus E. and Sheinin R. (1990)
- The origin and loss of the ubiquitin activating enzyme gene on the mammalian Y chromosome. (PubMed id 9467000)1, 9 Mitchell M.J.... Graves J.A. (1998)
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External Searches for UBA1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing UBA1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing UBA1 gene
(According to HUGE)
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Specialized Databases showing UBA1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for UBA1 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for UBA1 gene:
Search GeneIP for patents involving UBA1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for UBA1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for UBA1 | | OriGene shRNA RFP for UBA1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UBA1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UBA1 | | | OriGene Protein Over-expression Lysate for UBA1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for UBA1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UBA1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UBA1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for UBA1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | Antibodies & Assays for UBA1 (UBE1) |
| | | | Search Tocris compounds for UBA1 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA1 |
|  |  |  | | | | ThermoFisher Antibody for UBA1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBA1 |
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