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Aliases for UBA1 Gene

Aliases for UBA1 Gene

  • Ubiquitin Like Modifier Activating Enzyme 1 2 3
  • Ubiquitin-Like Modifier Activating Enzyme 1 2 3 5
  • Ubiquitin-Activating Enzyme E1 2 4
  • A1S9T 3 4
  • UBE1 3 4
  • Ubiquitin-Activating Enzyme E1 (A1S9T And BN75 Temperature Sensitivity Complementing) 2
  • A1S9T And BN75 Temperature Sensitivity Complementing 3
  • POC20 Centriolar Protein Homolog (Chlamydomonas) 2
  • Ubiquitin-Activating Enzyme E1 Homolog (Yeast) 2
  • UBA1, Ubiquitin-Activating Enzyme E1 Homolog A 3
  • Testicular Secretory Protein Li 63 3
  • POC20 Centriolar Protein Homolog 3
  • Protein A1S9 4
  • EC 6.2.1.45 4
  • CFAP124 3
  • AMCX1 3
  • POC20 3
  • SMAX2 3
  • UBA1A 3
  • UBE1X 3
  • UBA1 2
  • A1S9 3
  • A1ST 3
  • GXP1 3

External Ids for UBA1 Gene

Previous HGNC Symbols for UBA1 Gene

  • A1S9T
  • GXP1
  • UBE1

Previous GeneCards Identifiers for UBA1 Gene

  • GC0XP046936
  • GC0XP047050
  • GC0XP044761

Summaries for UBA1 Gene

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 interstitial lung and liver disease. Among its related pathways are Immune System and Remodeling of Adherens Junctions. GO annotations related to this gene include poly(A) RNA binding and small protein activating enzyme activity. An important paralog of this gene is UBA6.

UniProtKB/Swiss-Prot for UBA1 Gene

  • Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1606621, PubMed:1447181). 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 (PubMed:1447181). Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites (PubMed:22456334).

Gene Wiki entry for UBA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBA1 Gene

Genomics for UBA1 Gene

Regulatory Elements for UBA1 Gene

Promoters for UBA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBA1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the UBA1 gene promoter:

Genomic Location for UBA1 Gene

Chromosome:
X
Start:
47,190,800 bp from pter
End:
47,215,128 bp from pter
Size:
24,329 bases
Orientation:
Plus strand

Genomic View for UBA1 Gene

Genes around UBA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA1 Gene

Proteins for UBA1 Gene

  • Protein details for UBA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22314-UBA1_HUMAN
    Recommended name:
    Ubiquitin-like modifier-activating enzyme 1
    Protein Accession:
    P22314
    Secondary Accessions:
    • Q5JRR8
    • Q96E13

    Protein attributes for UBA1 Gene

    Size:
    1058 amino acids
    Molecular mass:
    117849 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for UBA1 Gene

    Alternative splice isoforms for UBA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBA1 Gene

Proteomics data for UBA1 Gene at MOPED

Post-translational modifications for UBA1 Gene

  • ISGylated.
  • Ubiquitination at Lys 68, Lys 89, Lys 185, Lys 304, Lys 322, Lys 385, Lys 443, Lys 465, Lys 470, Lys 526, Lys 528, Lys 593, Lys 604, Lys 627, Lys 635, Lys 657, Lys 671, Lys 746, Lys 843, Lys 889, Lys 923, and Lys 980
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBA1 (UBE1)

No data available for DME Specific Peptides for UBA1 Gene

Domains & Families for UBA1 Gene

Gene Families for UBA1 Gene

Graphical View of Domain Structure for InterPro Entry

P22314

UniProtKB/Swiss-Prot:

UBA1_HUMAN :
  • The first 11 amino acids are essential for phosphorylation and exclusive nuclear localization.
  • Belongs to the ubiquitin-activating E1 family.
Domain:
  • The first 11 amino acids are essential for phosphorylation and exclusive nuclear localization.
Family:
  • Belongs to the ubiquitin-activating E1 family.
genes like me logo Genes that share domains with UBA1: view

Function for UBA1 Gene

Molecular function for UBA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + ubiquitin + [E1 ubiquitin-activating enzyme]-L-cysteine = AMP + diphosphate + S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine.
UniProtKB/Swiss-Prot Function:
Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1606621, PubMed:1447181). 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 (PubMed:1447181). Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites (PubMed:22456334).

Enzyme Numbers (IUBMB) for UBA1 Gene

Gene Ontology (GO) - Molecular Function for UBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IEA,IPI 16227972
genes like me logo Genes that share ontologies with UBA1: view
genes like me logo Genes that share phenotypes with UBA1: view

Human Phenotype Ontology for UBA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for UBA1 Gene

Localization for UBA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBA1 Gene

Cytoplasm. Mitochondrion. Nucleus.
Isoform 1: Nucleus.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBA1 Gene COMPARTMENTS Subcellular localization image for UBA1 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for UBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 1376922
GO:0005739 mitochondrion IDA 1376922
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with UBA1: view

Pathways & Interactions for UBA1 Gene

genes like me logo Genes that share pathways with UBA1: view

UniProtKB/Swiss-Prot P22314-UBA1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for UBA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UBA1 Gene

None

Drugs & Compounds for UBA1 Gene

(5) Drugs for UBA1 Gene - From: HMDB, DrugBank, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Hexatantalum Dodecabromide Experimental Pharma Target 0
Diphosphate Experimental Pharma 0
PYR-41 Pharma Ubiquitin-activating enzyme (E1) inhibitor 0

(3) Additional Compounds for UBA1 Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
NSC 624206
13116-77-3
PYZD 4409
423148-78-1
genes like me logo Genes that share compounds with UBA1: view

Transcripts for UBA1 Gene

Unigene Clusters for UBA1 Gene

Ubiquitin-like modifier activating enzyme 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UBA1 Gene

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: - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - - - - - - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - - - - -
SP15:
SP16:
SP17:
SP18: - - - - - - - - - - - - - -
SP19: - - - -
SP20:
SP21: - - - - - - - - - -
SP22: - - - -
SP23:
SP24: - - - - - - - - - - - - -
SP25: - - - - - - - - - - - - - - -
SP26: - -
SP27:
SP28:
SP29:
SP30:

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - - - - - - - - - - -
SP16:
SP17:
SP18:
SP19:
SP20: - -
SP21: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
SP30:

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:
SP6:
SP7:
SP8: - -
SP9: - - -
SP10: - - -
SP11: - - -
SP12:
SP13:
SP14:
SP15: - -
SP16:
SP17:
SP18:
SP19:
SP20: -
SP21: - - -
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29: -
SP30:

Relevant External Links for UBA1 Gene

GeneLoc Exon Structure for
UBA1
ECgene alternative splicing isoforms for
UBA1

Expression for UBA1 Gene

mRNA expression in normal human tissues for UBA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBA1 Gene

This gene is overexpressed in Lymph node (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBA1 Gene



SOURCE GeneReport for Unigene cluster for UBA1 Gene Hs.533273

mRNA Expression by UniProt/SwissProt for UBA1 Gene

P22314-UBA1_HUMAN
Tissue specificity: Detected in erythrocytes (at protein level). Ubiquitous.
genes like me logo Genes that share expression patterns with UBA1: view

Protein tissue co-expression partners for UBA1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for UBA1 Gene

Orthologs for UBA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UBA1 36
  • 97 (a)
OneToOne
UBA1 35
  • 91.43 (n)
  • 96.6 (a)
dog
(Canis familiaris)
Mammalia UBA1 35
  • 91.08 (n)
  • 94.9 (a)
UBA1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uba1 36
  • 96 (a)
OneToOne
Uba1 16
Uba1 35
  • 89.32 (n)
  • 95.56 (a)
oppossum
(Monodelphis domestica)
Mammalia UBA1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Uba1 35
  • 89.35 (n)
  • 96.41 (a)
lizard
(Anolis carolinensis)
Reptilia UBA1 36
  • 80 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Dr.28845 35
uba1 35
  • 72.94 (n)
  • 79 (a)
uba1 36
  • 79 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011872 35
  • 62.52 (n)
  • 62.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta Uba1 36
  • 53 (a)
OneToMany
Uba1 35
  • 61.77 (n)
  • 61.64 (a)
worm
(Caenorhabditis elegans)
Secernentea uba-1 36
  • 46 (a)
OneToMany
uba-1 35
  • 54.15 (n)
  • 51.35 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR433C 35
  • 57.75 (n)
  • 55.63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA1 36
  • 52 (a)
OneToMany
UBA1 38
UBA1 35
  • 54.52 (n)
  • 53.99 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B14278g 35
  • 55.98 (n)
  • 54.44 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3093 35
soybean
(Glycine max)
eudicotyledons Gma.1973 35
barley
(Hordeum vulgare)
Liliopsida Hv.2675 35
rice
(Oryza sativa)
Liliopsida Os.33799 35
Os07g0692900 35
  • 53.7 (n)
  • 46.43 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.684 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04370 35
  • 59.59 (n)
  • 56.66 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ptr3 35
  • 54.74 (n)
  • 55.11 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10411 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToMany
Species with no ortholog for UBA1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for UBA1 Gene

ENSEMBL:
Gene Tree for UBA1 (if available)
TreeFam:
Gene Tree for UBA1 (if available)

Paralogs for UBA1 Gene

Paralogs for UBA1 Gene

genes like me logo Genes that share paralogs with UBA1: view

Variants for UBA1 Gene

Sequence variations from dbSNP and Humsavar for UBA1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_043500 -
VAR_043501 Spinal muscular atrophy X-linked 2 (SMAX2)
VAR_043502 Spinal muscular atrophy X-linked 2 (SMAX2)
VAR_071121 Spinal muscular atrophy X-linked 2 (SMAX2)
rs4239963 -- 47,201,445(+) CTGGG(C/G)CTGTT intron-variant

Variation tolerance for UBA1 Gene

Residual Variation Intolerance Score: 3.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.33; 76.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBA1 Gene

HapMap Linkage Disequilibrium report
UBA1
Human Gene Mutation Database (HGMD)
UBA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UBA1 Gene

Disorders for UBA1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for UBA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy, x-linked 2, infantile
  • spinal muscular atrophy, x-linked infantile
interstitial lung and liver disease
  • infantile liver failure syndrome 2
spinal muscular atrophy
  • juvenile spinal muscular atrophy
muscular atrophy
  • amyotrophia nos
wallerian degeneration
  • wallerian degeneration of the pyramidal tract
- elite association - COSMIC cancer census association via MalaCards
Search UBA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UBA1_HUMAN
  • 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. {ECO:0000269 PubMed:18179898, ECO:0000269 PubMed:23518311}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UBA1

Human Genome Epidemiology (HuGE) Navigator
UBA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBA1
genes like me logo Genes that share disorders with UBA1: view

No data available for Genatlas for UBA1 Gene

Publications for UBA1 Gene

  1. Expression, purification, and crystal structure of N-terminal domains of human ubiquitin-activating enzyme (E1). (PMID: 25209502) Xie S.T. (Biosci. Biotechnol. Biochem. 2014) 3 4 67
  2. The origin and loss of the ubiquitin activating enzyme gene on the mammalian Y chromosome. (PMID: 9467000) Mitchell M.J. … Graves J.A. (Hum. Mol. Genet. 1998) 3 23
  3. The human ubiquitin-activating enzyme E1 gene (UBE1) mapped to band Xp11.3----p11.23 by fluorescence in situ hybridization. (PMID: 1544321) Takahashi E. … Hori T. (Cytogenet. Cell Genet. 1992) 3 23
  4. Human ubiquitin-activating enzyme (E1): compensation for heat-labile mouse E1 and its gene localization on the X chromosome. (PMID: 1845793) Kudo M. … Ui M. (Exp. Cell Res. 1991) 2 3
  5. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3

Products for UBA1 Gene

Sources for UBA1 Gene

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