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UBA1 Gene

protein-coding   GIFtS: 69
GCID: GC0XP047050

Ubiquitin-Like Modifier Activating Enzyme 1

(Previous names: ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature...)
(Previous symbols: A1S9T, GXP1, UBE1)
  See UBA1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquitin-Like Modifier Activating Enzyme 11 2     Ubiquitin-Activating Enzyme E1 Homolog (Yeast)1
UBE11 2 3 5     A1S92
A1S9T1 2 3     POC202
GXP11 2 5     UBA1A2
Ubiquitin-Activating Enzyme E11 3     UBE1X2
A1ST2 5     A1S9T And BN75 Temperature Sensitivity Complementing2
AMCX12 5     POC20 Centriolar Protein Homolog2
SMAX22 5     UBA1, Ubiquitin-Activating Enzyme E1 Homolog A2
UBA11     Ubiquitin-Like Modifier-Activating Enzyme 12
POC20 Centriolar Protein Homolog (Chlamydomonas)1     Protein A1S93
Ubiquitin-Activating Enzyme E1 (A1S9T And BN75 Temperature Sensitivity
Complementing)1
     

External Ids:    HGNC: 124691   Entrez Gene: 73172   Ensembl: ENSG000001309857   OMIM: 3143705   UniProtKB: P223143   

Export aliases for UBA1 gene to outside databases

Previous GC identifers: GC0XP046936 GC0XP044761


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for UBA1 Gene:
The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for
degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may
function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript
variants that encode the same protein have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for UBA1 Gene:
UBA1 (ubiquitin-like modifier activating enzyme 1) is a protein-coding gene. Diseases associated with UBA1 include spinal muscular atrophy, x-linked 2, infantile, and spinal muscular atrophy, x-linked infantile. GO annotations related to this gene include small protein activating enzyme activity and ligase activity. An important paralog of this gene is UBA6.

UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314
Function: Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking
this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP

Gene Wiki entry for UBA1 (UBE1) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_079573.5  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBA1 gene promoter:
         p53   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): UBA1 promoter sequence
   Search Chromatin IP Primers for UBA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: Xp11.23

UBA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBA1 gene location

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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 two ubiquitin
moieties at a time, with a new ubiquitin forming an adenylate intermediate as the previous one is transferred to
the thiol site
Secondary accessions: Q5JRR8 Q96E13

Explore the universe of human proteins at neXtProt for UBA1: NX_P22314

Explore proteomics data for UBA1 at MOPED

Post-translational modifications: 

  • ISGylated1
  • Ubiquitination2 at Lys68, Lys89, Lys185, Lys304, Lys322, Lys385, Lys443, Lys465, Lys470, Lys526,
                                 Lys528, Lys593, Lys604, Lys627, Lys635, Lys657, Lys671, Lys746, Lys838, Lys843 (see all 23)
  • Modification sites at PhosphoSitePlus

  • See UBA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    UBA1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant UBA1 Protein
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    Enzo Life Sciences proteins for UBA1
    OriGene Purified Protein for UBA1
    OriGene Protein Over-expression Lysate for UBA1
    OriGene MassSpec for UBA1
    OriGene Custom Protein Services for UBA1
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    Novus Biologicals UBA1 Proteins
    Novus Biologicals UBA1 Lysates
    Sino Biological Recombinant Protein for UBA1
    Sino Biological Cell Lysate for UBA1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBA1

     
    Search eBioscience for Proteins for UBA1 

     
    antibodies-online proteins for UBA1 (5 products) 

     
    antibodies-online peptides for UBA1

    UBA1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of UBA1
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    antibodies-online antibodies for UBA1 (50 products) 

    UBA1 Assay Products:

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    Cloud-Clone Corp. CLIAs for UBA1
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    antibodies-online kits for UBA1 (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBE1: Ubiquitin-like modifier activating enzymes

    Selected InterPro protein domains (see all 10):
     IPR018074 UBQ-activ_enz_E1_AS
     IPR018965 Ub-activating_enz_e1_C
     IPR009036 Molybdenum_cofac_synth_MoeB
     IPR000594 ThiF_NAD_FAD-bd
     IPR018075 UBQ-activ_enz_E1

    Graphical View of Domain Structure for InterPro Entry P22314

    ProtoNet protein and cluster: P22314

    2 Blocks protein domains:
    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


    Find genes that share domains with UBA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBA1_HUMAN, P22314
    Function: Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking
    this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI16227972
    GO:0005524ATP binding IEA--
    GO:0008641small protein activating enzyme activity IEA--
    GO:0016874ligase activity IEA--
         
    Find genes that share ontologies with UBA1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for UBA1:
     Increased cell death in HCT116  Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for UBA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target UBA1:
    hsa-mir-1301-3p (MIRT036044), hsa-mir-222-3p (MIRT046712), hsa-mir-1254 (MIRT035858), hsa-mir-17-3p (MIRT050778), hsa-mir-182-5p (MIRT047192), hsa-mir-331-3p (MIRT043523), hsa-mir-27b-3p (MIRT046237), hsa-let-7b-5p (MIRT051972), hsa-mir-744-5p (MIRT037737), hsa-mir-210-3p (MIRT047004), hsa-mir-615-3p (MIRT040312), hsa-mir-324-5p (MIRT043196)

    Block miRNA regulation of human, mouse, rat UBA1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate UBA1:
    hsa-miR-651 hsa-miR-624
    SwitchGear 3'UTR luciferase reporter plasmidUBA1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for UBA1
    Predesigned siRNA for gene silencing in human, mouse, rat UBA1

    Gene Editing
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    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
    Addgene plasmids for UBA1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with UBA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for UBA1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2Parkin-Ubiquitin Proteasomal System pathway
    Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway0.89
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt CFTR0.59
    Regulation of degradation of deltaF508 CFTR in CF0.59
    4CDK-mediated phosphorylation and removal of Cdc6
    Proteasome Degradation0.57
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57


    Find genes that share SuperPaths with UBA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for UBA1
        Ubiquitin-Proteasome Dependent Proteolysis
    Remodeling of Adherens Junctions
    SOCS Pathway

    1 Cell Signaling Technology (CST) Pathway for UBA1
        Protein Stability

    5 GeneGo (Thomson Reuters) Pathways for UBA1
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Regulation of degradation of deltaF508 CFTR in CF
    Proteolysis Putative ubiquitin pathway
    Cell cycle Role of SCF complex in cell cycle regulation
    Regulation of degradation of wt-CFTR

    3 BioSystems Pathways for UBA1
        Parkin-Ubiquitin Proteasomal System pathway
    Parkinsons Disease Pathway
    Proteasome Degradation


    1 Reactome Pathway for UBA1
        Antigen processing: Ubiquitination & Proteasome degradation


    2 Kegg Pathways  (Kegg details for UBA1):
        Ubiquitin mediated proteolysis
    Parkinson's disease

    UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UBA1: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Parkinson's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UBA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for UBA1 (P223141, 2, 3 ENSP000003384134) via UniProtKB, MINT, STRING, and/or I2D (see all 304)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process ----
    GO:0008219cell death IEA--
    GO:0016567protein ubiquitination IEA--

    Find genes that share ontologies with UBA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UBA1

    4 HMDB Compounds for UBA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 DrugBank Compound for UBA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Hexatantalum Dodecabromide-- --target--17139284 17016423 10592235



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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_003334
    9 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)
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate UBA1:
    hsa-miR-651 hsa-miR-624
    SwitchGear 3'UTR luciferase reporter plasmidUBA1 3' UTR sequence
    Inhib. RNA
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    OriGene qPCR primer pairs and template standards for UBA1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBA1
      QuantiTect SYBR Green Assays in human, mouse, rat UBA1
      QuantiFast Probe-based Assays in human, mouse, rat UBA1

    Additional mRNA sequence: 

    AK293161.1 AK296866.1 BC009900.2 BC013041.2 BC020261.1 M58028.1 X52897.1 X56976.1 

    Selected 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 

    Selected AceView cDNA sequences (see all 826):

    BM917754 BE870012 M58028 AA143239 CA450303 BG115158 BU839377 BG661037 
    AA172388 BE560798 BQ643195 BU902046 BG289248 BE546212 BQ024811 BM015323 
    BE903114 BE018467 CA421462 BU625399 BE386001 BU580476 BI088058 CB216715 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    UBA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGCTGCCA
    UBA1 Expression
    About this image


    UBA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
     
     Lung (Respiratory System)
    UBA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.533273
        Pathway & Disease-focused RT2 Profiler PCR Arrays including UBA1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Parkinson's Disease in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UBA1 gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uba11 , 5 ubiquitin-like modifier activating enzyme 11, 5 89.32(n)1
    95.56(a)1
      X (16.15 cM)5
    222011  NM_009457.41  NP_033483.21 
     206583265 
    lizard
    (Anolis carolinensis)
    Reptilia UBA16
    ubiquitin-like modifier activating enzyme 1
    80(a)
    1 ↔ 1
    2(68728766-68747474)
    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 61.77(n)
    61.64(a)
      35998  NM_057962.5  NP_477310.2 
    worm
    (Caenorhabditis elegans)
    Secernentea uba-11 uba-1 54.15(n)
    51.35(a)
      177855  NM_001038315.5  NP_001033404.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBA1(YKL210W)4
    UBA11
    Ubiquitin activating enzyme (E1), involved in ubiquitin-mediated more4
    UBA11
    54.52(n)1
    53.99(a)1
      11(39163-42237)4
    8536701, 4  NP_012712.11, 4 
    soybean
    (Glycine max)
    eudicotyledons Gma.19732 Transcribed sequence with moderate similarity to protein more 74.98(n)  
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBA1 gene
    UBA62  UBA72  
    8 SIMAP similar genes for UBA1 using alignment to 7 protein entries:     UBA1_HUMAN (see all proteins):
    UBE1    DNAPTP3    OK/SW-cl.41    KIAA1651    UBA7    SAE1
    UBA6    FP6651

    Find genes that share paralogs with UBA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for UBA1 (see all 419)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0435024
    Spinal muscular atrophy X-linked 2 (SMAX2)4--see VAR_0435022 S G mis40--------
    VAR_0435014
    Spinal muscular atrophy X-linked 2 (SMAX2)4--see VAR_0435012 M I mis40--------
    rs803565451,2
    Cpathogenic146984632(+) CAAATG/TAATCC 4 M I mis10--------
    rs803565461,2
    Cpathogenic146984654(+) TGACAA/GGCCAC 4 S G mis10--------
    rs803565471,2
    Cpathogenic146984746(+) GACAAC/TGTGGA 4 N syn10--------
    rs1397544821,2
    C--46967472(+) AAAGTC/TCAACA 1 -- us2k10--------
    rs1430983451,2
    --46967599(+) ATATAA/GAGAAC 1 -- us2k10--------
    rs588448491,2
    C--46968030(+) GGGTTC/TAAGCA 1 -- us2k10--------
    rs1928195721,2
    --46968129(+) GGTTTC/TGCTAT 1 -- us2k10--------
    rs1845351851,2
    --46968181(+) CCCTCC/TTTGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UBA1 (47050199 - 47074527 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for UBA1: --
    Human Gene Mutation Database (HGMD): UBA1
    Locus Specific Mutation Databases (LSDB): UBA1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBA1
    DNA2.0 Custom Variant and Variant Library Synthesis for UBA1

    (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

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    OMIM gene information: 314370   
    OMIM disorders: 301830  
    UniProtKB/Swiss-Prot: UBA1_HUMAN, P22314
  • Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]: A lethal infantile form of spinal muscular
    atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord,
    leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple
    congenital contractures. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for UBA1:    
    About MalaCards
    spinal muscular atrophy, x-linked 2, infantile    spinal muscular atrophy, x-linked infantile    wallerian degeneration    spinal muscular atrophy


    Find genes that share disorders with UBA1           About GenesLikeMe

    GeneTests: UBA1
    GeneReviews: UBA1
    Human Genome Epidemiology (HuGE) Navigator: UBA1 (1 document)

    Export disorders for UBA1 gene to outside databases

    (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)
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    PubMed articles for UBA1 gene, integrated from 10 sources (see all 120):
    (articles sorted by number of sources associating them with UBA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Am. J. Hum. Genet. 2008)
    2. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    3. Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival. (PubMed id 16227972)1, 2 Allen E.... Yang Y. (Nature 2005)
    4. 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. (Genome Res. 2004)
    5. 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. (Cell Struct. Funct. 1992)
    6. 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. (Exp. Cell Res. 1991)
    7. Molecular cloning, sequence, and tissue distribution of the human ubiquitin-activating enzyme E1. (PubMed id 1986373)1, 2 Handley P.M.... Schwartz A.L. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    8. Molecular cloning, sequence, and tissue distribution of the human ubiquitin-activating enzyme E1. (PubMed id 1871145)1, 2 (Proc. Natl. Acad. Sci. U.S.A. 1991)
    9. 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. (EMBO J. 1990)
    10. 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. (Hum. Mol. Genet. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7317 HGNC: 12469 AceView: UBE1 Ensembl:ENSG00000130985 euGenes: HUgn7317
    ECgene: UBA1 Kegg: 7317 H-InvDB: UBA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UBA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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