Human Gene UBA1 (uc004dhj.4) Description and Page Index
  Description: Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.
RefSeq Summary (NM_153280): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:47,050,199-47,074,527 Size: 24,329 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg19 chrX:47,058,202-47,074,328 Size: 16,127 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:47,050,199-47,074,527)mRNA (may differ from genome)Protein (1058 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
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H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: UBA1_HUMAN
DESCRIPTION: RecName: Full=Ubiquitin-like modifier-activating enzyme 1; AltName: Full=Protein A1S9; AltName: Full=Ubiquitin-activating enzyme E1;
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 an ubiquitin- E1 thioester and free AMP.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Monomer (By similarity). Interacts with GAN (via BTB domain).
INTERACTION: Q76353:- (xeno); NbExp=2; IntAct=EBI-709688, EBI-6248077; Q9H2C0:GAN; NbExp=5; IntAct=EBI-709688, EBI-764342; P63279:UBE2I; NbExp=2; IntAct=EBI-709688, EBI-80168;
PTM: ISGylated.
DISEASE: 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-linked arthrogryposis multiplex congenita or X-linked arthrogryposis type 1 (AMCX1). Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX2 is a lethal infantile form presenting with hypotonia, areflexia, and multiple congenital contractures.
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.
SIMILARITY: Belongs to the ubiquitin-activating E1 family.

-  MalaCards Disease Associations
  MalaCards Gene Search: UBA1
Diseases sorted by gene-association score: spinal muscular atrophy, x-linked 2, infantile* (1650), spinal muscular atrophy (13), muscular atrophy (13), wallerian degeneration (9), anterior horn cell disease (8), congenital contractures (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 76.21 RPKM in Thyroid
Total median expression: 2324.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.70151-0.375 Picture PostScript Text
3' UTR -41.11199-0.207 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009036 - Molybdenum_cofac_synth_MoeB
IPR016040 - NAD(P)-bd_dom
IPR000594 - ThiF_NAD_FAD-bd
IPR018965 - Ub-activating_enz_e1_C
IPR023280 - Ub-like_act_enz_cat_cys_dom
IPR000127 - UBact_repeat
IPR019572 - Ubiquitin-activating_enzyme
IPR018075 - UBQ-activ_enz_E1
IPR018074 - UBQ-activ_enz_E1_AS
IPR000011 - UBQ/SUMO-activ_enz_E1-like

Pfam Domains:
PF00899 - ThiF family
PF09358 - Ubiquitin fold domain
PF10585 - Ubiquitin-activating enzyme active site
PF16190 - Ubiquitin-activating enzyme E1 FCCH domain
PF16191 - Ubiquitin-activating enzyme E1 four-helix bundle

SCOP Domains:
69572 - Activating enzymes of the ubiquitin-like proteins
51735 - NAD(P)-binding Rossmann-fold domains

ModBase Predicted Comparative 3D Structure on P22314
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0004839 ubiquitin activating enzyme activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008641 small protein activating enzyme activity
GO:0016874 ligase activity

Biological Process:
GO:0006464 cellular protein modification process
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0006974 cellular response to DNA damage stimulus
GO:0016567 protein ubiquitination

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0070062 extracellular exosome
GO:0000792 heterochromatin
GO:0005765 lysosomal membrane
GO:0010008 endosome membrane
GO:0030057 desmosome
GO:0030867 rough endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  LF211433 - JP 2014500723-A/18936: Polycomb-Associated Non-Coding RNAs.
BC013041 - Homo sapiens ubiquitin-like modifier activating enzyme 1, mRNA (cDNA clone MGC:4781 IMAGE:3543021), complete cds.
AK296866 - Homo sapiens cDNA FLJ53392 complete cds, highly similar to Ubiquitin-activating enzyme E1.
AK293161 - Homo sapiens cDNA FLJ54582 complete cds, highly similar to Ubiquitin-activating enzyme E1.
BC009900 - Homo sapiens cDNA clone IMAGE:2988153, containing frame-shift errors.
M58028 - Homo sapiens ubiquitin-activating enzyme E1 (UBE1) mRNA, complete cds.
HM005603 - Homo sapiens clone HTL-S-63 testicular secretory protein Li 63 mRNA, complete cds.
X56976 - Human mRNA for ubiquitin activating enzyme E1.
MA447010 - JP 2018138019-A/18936: Polycomb-Associated Non-Coding RNAs.
JD087293 - Sequence 68317 from Patent EP1572962.
AB384908 - Synthetic construct DNA, clone: pF1KB4151, Homo sapiens UBE1 gene for ubiquitin-activating enzyme E1, complete cds, without stop codon, in Flexi system.
EU176712 - Synthetic construct Homo sapiens clone IMAGE:100011502; FLH188198.01L; RZPDo839H06255D ubiquitin-activating enzyme E1 (UBE1) gene, encodes complete protein.
EU176375 - Synthetic construct Homo sapiens clone IMAGE:100006579; FLH263900.01X; RZPDo839F01246D ubiquitin-activating enzyme E1 (UBE1) gene, encodes complete protein.
BC020261 - Homo sapiens ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing), mRNA (cDNA clone IMAGE:4877530).
LF379465 - JP 2014500723-A/186968: Polycomb-Associated Non-Coding RNAs.
LF379468 - JP 2014500723-A/186971: Polycomb-Associated Non-Coding RNAs.
X52897 - Human A1S9 mRNA for A1S9 protein of unknown function.
LF379469 - JP 2014500723-A/186972: Polycomb-Associated Non-Coding RNAs.
LF379470 - JP 2014500723-A/186973: Polycomb-Associated Non-Coding RNAs.
LF379471 - JP 2014500723-A/186974: Polycomb-Associated Non-Coding RNAs.
LF379472 - JP 2014500723-A/186975: Polycomb-Associated Non-Coding RNAs.
LF379473 - JP 2014500723-A/186976: Polycomb-Associated Non-Coding RNAs.
LF379474 - JP 2014500723-A/186977: Polycomb-Associated Non-Coding RNAs.
LF379476 - JP 2014500723-A/186979: Polycomb-Associated Non-Coding RNAs.
LF379477 - JP 2014500723-A/186980: Polycomb-Associated Non-Coding RNAs.
LF379478 - JP 2014500723-A/186981: Polycomb-Associated Non-Coding RNAs.
LF379479 - JP 2014500723-A/186982: Polycomb-Associated Non-Coding RNAs.
AK097343 - Homo sapiens cDNA FLJ40024 fis, clone STOMA2007745, highly similar to UBIQUITIN-ACTIVATING ENZYME E1.
LF379482 - JP 2014500723-A/186985: Polycomb-Associated Non-Coding RNAs.
JD024898 - Sequence 5922 from Patent EP1572962.
LF379484 - JP 2014500723-A/186987: Polycomb-Associated Non-Coding RNAs.
JD029982 - Sequence 11006 from Patent EP1572962.
LF379486 - JP 2014500723-A/186989: Polycomb-Associated Non-Coding RNAs.
LF379487 - JP 2014500723-A/186990: Polycomb-Associated Non-Coding RNAs.
LF379489 - JP 2014500723-A/186992: Polycomb-Associated Non-Coding RNAs.
AF258566 - Homo sapiens PP3895 mRNA, complete cds.
AK131341 - Homo sapiens cDNA FLJ16357 fis, clone THYMU2004284, highly similar to UBIQUITIN-ACTIVATING ENZYME E1.
LF379496 - JP 2014500723-A/186999: Polycomb-Associated Non-Coding RNAs.
LF379497 - JP 2014500723-A/187000: Polycomb-Associated Non-Coding RNAs.
LF379499 - JP 2014500723-A/187002: Polycomb-Associated Non-Coding RNAs.
LF379500 - JP 2014500723-A/187003: Polycomb-Associated Non-Coding RNAs.
LF379505 - JP 2014500723-A/187008: Polycomb-Associated Non-Coding RNAs.
JD423656 - Sequence 404680 from Patent EP1572962.
JD150550 - Sequence 131574 from Patent EP1572962.
JD191766 - Sequence 172790 from Patent EP1572962.
JD394323 - Sequence 375347 from Patent EP1572962.
JD392084 - Sequence 373108 from Patent EP1572962.
JD233582 - Sequence 214606 from Patent EP1572962.
JD549785 - Sequence 530809 from Patent EP1572962.
JD085996 - Sequence 67020 from Patent EP1572962.
JD411661 - Sequence 392685 from Patent EP1572962.
JD240117 - Sequence 221141 from Patent EP1572962.
JD133652 - Sequence 114676 from Patent EP1572962.
MA615042 - JP 2018138019-A/186968: Polycomb-Associated Non-Coding RNAs.
MA615045 - JP 2018138019-A/186971: Polycomb-Associated Non-Coding RNAs.
MA615046 - JP 2018138019-A/186972: Polycomb-Associated Non-Coding RNAs.
MA615047 - JP 2018138019-A/186973: Polycomb-Associated Non-Coding RNAs.
MA615048 - JP 2018138019-A/186974: Polycomb-Associated Non-Coding RNAs.
MA615049 - JP 2018138019-A/186975: Polycomb-Associated Non-Coding RNAs.
MA615050 - JP 2018138019-A/186976: Polycomb-Associated Non-Coding RNAs.
MA615051 - JP 2018138019-A/186977: Polycomb-Associated Non-Coding RNAs.
MA615053 - JP 2018138019-A/186979: Polycomb-Associated Non-Coding RNAs.
MA615054 - JP 2018138019-A/186980: Polycomb-Associated Non-Coding RNAs.
MA615055 - JP 2018138019-A/186981: Polycomb-Associated Non-Coding RNAs.
MA615056 - JP 2018138019-A/186982: Polycomb-Associated Non-Coding RNAs.
MA615059 - JP 2018138019-A/186985: Polycomb-Associated Non-Coding RNAs.
MA615061 - JP 2018138019-A/186987: Polycomb-Associated Non-Coding RNAs.
MA615063 - JP 2018138019-A/186989: Polycomb-Associated Non-Coding RNAs.
MA615064 - JP 2018138019-A/186990: Polycomb-Associated Non-Coding RNAs.
MA615066 - JP 2018138019-A/186992: Polycomb-Associated Non-Coding RNAs.
MA615073 - JP 2018138019-A/186999: Polycomb-Associated Non-Coding RNAs.
MA615074 - JP 2018138019-A/187000: Polycomb-Associated Non-Coding RNAs.
MA615076 - JP 2018138019-A/187002: Polycomb-Associated Non-Coding RNAs.
MA615077 - JP 2018138019-A/187003: Polycomb-Associated Non-Coding RNAs.
MA615082 - JP 2018138019-A/187008: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis
hsa05012 - Parkinson's disease

Reactome (by CSHL, EBI, and GO)

Protein P22314 (Reactome details) participates in the following event(s):

R-HSA-8852134 UBA1 adenylates ubiquitin in the cytosol
R-HSA-8852128 UBA1 adenylates ubiquitin in the nucleoplasm
R-HSA-8852132 Ub-Cys632-UBA1 adenylates ubiquitin in the cytosol
R-HSA-8852133 UBA1 conjugates ubiquitin to UBA1 in the cytosol
R-HSA-8852129 UBA1 conjugates ubiquitin to cytosolic E2 enzymes
R-HSA-983153 E1 mediated ubiquitin activation
R-HSA-983152 Transfer of ubiquitin from E1 to E2
R-HSA-8852136 UBA1 conjugates ubiquitin to UBA1 in the nucleus
R-HSA-8852130 UBA1 conjugates ubiquitin to nuclear E2 enzymes
R-HSA-8852131 Ub-Cys632-UBA1 adenylates ubiquitin in the nucleus
R-HSA-8866652 Synthesis of active ubiquitin: roles of E1 and E2 enzymes
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-8852135 Protein ubiquitination
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-597592 Post-translational protein modification
R-HSA-1280218 Adaptive Immune System
R-HSA-392499 Metabolism of proteins
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A1S9T, NM_153280, NP_695012, P22314, Q5JRR8, Q96E13, UBA1_HUMAN, UBE1
UCSC ID: uc004dhj.4
RefSeq Accession: NM_153280
Protein: P22314 (aka UBA1_HUMAN)
CCDS: CCDS14275.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene UBA1:
sma-xli (Spinal Muscular Atrophy, X-Linked Infantile)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_153280.2
exon count: 26CDS single in 3' UTR: no RNA size: 3544
ORF size: 3177CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6554.00frame shift in genome: no % Coverage: 99.52
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.