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Aliases for UBA1 Gene

Aliases for UBA1 Gene

  • 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
  • UBA1, Ubiquitin-Activating Enzyme E1 Homolog (Yeast) 2
  • A1S9T And BN75 Temperature Sensitivity Complementing 3
  • POC20 Centriolar Protein Homolog (Chlamydomonas) 2
  • UBA1, Ubiquitin-Activating Enzyme E1 Homolog A 3
  • Ubiquitin-Like Modifier Activating Enzyme 1 2
  • Ubiquitin-Like Modifier-Activating Enzyme 1 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
  • 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 Anterior Horn Cell Disease. Among its related pathways are Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway and Innate Immune System. GO annotations related to this gene include poly(A) RNA binding and small protein activating enzyme activity. An important paralog of this gene is UBA7.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBA1 Gene

Genomics for UBA1 Gene

Regulatory Elements for UBA1 Gene

Enhancers for UBA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG047514 1.3 FANTOM5 ENCODE dbSUPER 12.6 +325.0 324972 2.3 GTF2F1 TBP TAF1 JUN RFX5 ZNF121 GATA3 RCOR1 FOS NFE2L2 LINC01560 ZNF41 SNORA11C LOC100419232 INE1 UBA1 ZNF674 NDUFB11 CFP ARAF
GH0XG047380 0.9 Ensembl ENCODE 11.6 +189.9 189910 1.4 ZNF263 HDGF SP3 BHLHE40 NRF1 NFXL1 ZFHX2 NFIC ZNF341 IKZF1 INE1 UBA1 ZNF41 GC0XP047390 ZNF157
GH0XG047520 0.7 dbSUPER 12.6 +330.4 330373 0.9 ZNF263 HDGF SP3 NRF1 BHLHE40 TRIM22 NFXL1 NFIC ZFHX2 IKZF1 LINC01560 ZNF41 LOC100419232 SNORA11C UBA1 INE1 NDUFB11 NUS1P1 ARAF
GH0XG047315 0.6 ENCODE 12.3 +125.9 125916 2.2 SCRT1 MXI1 RFX1 MAX BMI1 RBBP5 EP300 ZNF366 POLR2A RFX3 INE1 UBA1 SNORA11C LOC100419232 RGN PIR34305 ENSG00000203402
GH0XG047321 1 FANTOM5 ENCODE 3.8 +131.1 131070 1.7 ATF1 HCFC1 YY2 SIX5 RBBP5 YY1 SMARCA4 POLR2A NR2C1 CREM SNORA11C LOC100419232 RGN UBA1 CDK16 ELK1 PIR34305 GC0XM047351
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBA1 on UCSC Golden Path with GeneCards custom track

Promoters for UBA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000246388 500 1401 CREB3L1 ARID4B SIN3A BRCA1 ZNF2 YY1 ETS1 ZNF143 ZNF263 SP3

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

Post-translational modifications for UBA1 Gene

  • ISGylated.
  • Ubiquitination at isoforms=268, Lys89, Lys185, isoforms=2304, posLast=322322, Lys385, posLast=443443, Lys465, isoforms=2470, Lys526, isoforms=2528, posLast=593593, Lys604, Lys627, Lys635, Lys657, Lys671, posLast=746746, Lys843, isoforms=2889, isoforms=2923, and isoforms=2980
  • 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:0003723 RNA binding IDA 22658674
GO:0004839 ubiquitin activating enzyme activity TAS --
GO:0005515 protein binding IPI 16227972
GO:0005524 ATP binding IEA --
GO:0008641 small protein activating enzyme activity IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UBA1

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBA1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for UBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 colocalizes_with heterochromatin IDA 1376922
GO:0005634 nucleus IEA,IDA 1376922
GO:0005654 nucleoplasm TAS,IDA --
GO:0005737 cytoplasm IEA,IDA 1376922
GO:0005739 mitochondrion IEA,IDA 1376922
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 22456334
GO:0016567 protein ubiquitination TAS --
genes like me logo Genes that share ontologies with UBA1: view

Drugs & Compounds for UBA1 Gene

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
NSC 624206
13116-77-3

(3) Tocris Compounds for UBA1 Gene

Compound Action Cas Number
NSC 624206 Ubiquitin-activating enzyme (E1) inhibitor 13116-77-3
PYR 41 Ubiquitin-activating enzyme (E1) inhibitor 418805-02-4
PYZD 4409 Ubiquitin-activating enzyme (E1) inhibitor 423148-78-1

(2) ApexBio Compounds for UBA1 Gene

Compound Action Cas Number
PYR-41 418805-02-4
PYZD-4409 E1 enzyme inhibitor 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UBA1

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for UBA1 Gene



Protein tissue co-expression partners for UBA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBA1 Gene:

UBA1

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.

Evidence on tissue expression from TISSUES for UBA1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Intestine(4.1)
  • Lung(4.1)
  • Eye(3.7)
  • Skin(3.7)
  • Pancreas(3.3)
  • Muscle(3.1)
  • Heart(3)
  • Blood(2.9)
  • Kidney(2.5)
  • Adrenal gland(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UBA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tongue
Thorax:
  • chest wall
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with UBA1: view

Primer 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 34 35
  • 91.43 (n)
dog
(Canis familiaris)
Mammalia UBA1 34 35
  • 91.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Uba1 34
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Uba1 34 16 35
  • 89.32 (n)
oppossum
(Monodelphis domestica)
Mammalia UBA1 35
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBA1 35
  • 80 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii uba1 34 35
  • 72.94 (n)
Dr.28845 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011872 34
  • 62.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta Uba1 34 35
  • 61.77 (n)
worm
(Caenorhabditis elegans)
Secernentea uba-1 34 35
  • 54.15 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR433C 34
  • 57.75 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B14278g 34
  • 55.98 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA1 34 35 37
  • 54.52 (n)
soybean
(Glycine max)
eudicotyledons Gma.1973 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3093 34
rice
(Oryza sativa)
Liliopsida Os07g0692900 34
  • 53.7 (n)
Os.33799 34
barley
(Hordeum vulgare)
Liliopsida Hv.2675 34
wheat
(Triticum aestivum)
Liliopsida Ta.684 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04370 34
  • 59.59 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ptr3 34
  • 54.74 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10411 34
Species where no ortholog for UBA1 was found in the sources mined by GeneCards:
  • 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
rs80356545 Pathogenic, Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830] 47,205,989(+) CAAAT(G/T)AATCC intron-variant, downstream-variant-500B, reference, missense
rs80356546 Pathogenic, Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830] 47,206,011(+) TGACA(A/G)GCCAC intron-variant, downstream-variant-500B, reference, missense
VAR_071121 Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]
rs80356547 Pathogenic 47,206,103(+) GACAA(C/T)GTGGA intron-variant, downstream-variant-500B, reference, synonymous-codon
rs143044923 Likely benign 47,211,069(+) CTGCC(A/C)ACCTG intron-variant, reference, missense

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

Human Gene Mutation Database (HGMD)
UBA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(6) 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 2
anterior horn cell disease
muscular atrophy
  • amyotrophia
spinal muscular atrophy
  • kugelberg-welander disease
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 64
  2. Ubiquitin-activating enzyme UBA1 is required for cellular response to DNA damage. (PMID: 22456334) Moudry P. … Bartek J. (Cell Cycle 2012) 3 4 64
  3. Rare missense and synonymous variants in UBE1 are associated with X- linked infantile spinal muscular atrophy. (PMID: 18179898) Ramser J. … Baumbach-Reardon L. (Am. J. Hum. Genet. 2008) 3 4 64
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64
  5. Proteomic identification of proteins conjugated to ISG15 in mouse and human cells. (PMID: 16139798) Giannakopoulos N.V. … Zhang D.E. (Biochem. Biophys. Res. Commun. 2005) 3 4 64

Products for UBA1 Gene

Sources for UBA1 Gene

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