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Aliases for UBA5 Gene

Aliases for UBA5 Gene

  • Ubiquitin Like Modifier Activating Enzyme 5 2 3 5
  • Ubiquitin-Activating Enzyme E1 Domain-Containing Protein 1 3 4
  • Ubiquitin-Activating Enzyme E1-Domain Containing 1 2 3
  • Ubiquitin-Activating Enzyme 5 3 4
  • UFM1-Activating Enzyme 3 4
  • UBE1DC1 3 4
  • THIFP1 3 4
  • UBA5, Ubiquitin-Activating Enzyme E1 Homolog (Yeast) 2
  • UBA5, Ubiquitin-Activating Enzyme E1 Homolog 3
  • Ubiquitin-Like Modifier Activating Enzyme 5 2
  • Ubiquitin-Like Modifier-Activating Enzyme 5 3
  • EIEE44 3
  • SCAR24 3

External Ids for UBA5 Gene

Previous HGNC Symbols for UBA5 Gene

  • UBE1DC1

Previous GeneCards Identifiers for UBA5 Gene

  • GC03P133862
  • GC03P132373
  • GC03P129753

Summaries for UBA5 Gene

Entrez Gene Summary for UBA5 Gene

  • This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]

GeneCards Summary for UBA5 Gene

UBA5 (Ubiquitin Like Modifier Activating Enzyme 5) is a Protein Coding gene. Diseases associated with UBA5 include Spinocerebellar Ataxia, Autosomal Recessive 24 and Epileptic Encephalopathy, Early Infantile, 44. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include UFM1 activating enzyme activity. An important paralog of this gene is MOCS3.

UniProtKB/Swiss-Prot for UBA5 Gene

  • E1-like enzyme which activates UFM1 and SUMO2.

Gene Wiki entry for UBA5 Gene

Additional gene information for UBA5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBA5 Gene

Genomics for UBA5 Gene

GeneHancer (GH) Regulatory Elements for UBA5 Gene

Promoters and enhancers for UBA5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I132657 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.4 +5.5 5480 4.5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ACAD11 UBA5 NPHP3 DNAJC13 NPHP3-ACAD11
GH03I132654 Promoter/Enhancer 1.3 EPDnew ENCODE 550.8 +0.7 739 2.2 HDAC1 ZBTB40 TCF12 ZNF766 CAVIN1 ZNF592 MEF2D NFIC NR2C1 KDM1A UBA5 NPHP3 ACAD11 NPHP3-ACAD11
GH03I132653 Enhancer 0.3 ENCODE 550.8 -1.3 -1334 0.2 RUNX3 UBA5 ACAD11 HSPA8P19 NPHP3-ACAD11
GH03I132540 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.7 -111.7 -111733 3.5 SAP130 JUN ZBTB40 RARA FOSL1 FOSL2 FOS IKZF2 HOMEZ TCF7L2 UBA5 ACKR4 NPHP3 DNAJC13
GH03I133568 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.1 +917.9 917911 9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 CDV3 SRPRB TFP1 RAB6B NPHP3 UBA5 GC03P133569
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UBA5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UBA5 gene promoter:

Genomic Locations for UBA5 Gene

Genomic Locations for UBA5 Gene
chr3:132,654,446-132,678,253
(GRCh38/hg38)
Size:
23,808 bases
Orientation:
Plus strand
chr3:132,373,290-132,396,944
(GRCh37/hg19)

Genomic View for UBA5 Gene

Genes around UBA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA5 Gene

Proteins for UBA5 Gene

  • Protein details for UBA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZZ9-UBA5_HUMAN
    Recommended name:
    Ubiquitin-like modifier-activating enzyme 5
    Protein Accession:
    Q9GZZ9
    Secondary Accessions:
    • A6NJL3
    • D3DNC8
    • Q96ST1

    Protein attributes for UBA5 Gene

    Size:
    404 amino acids
    Molecular mass:
    44863 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for UBA5 Gene

    Alternative splice isoforms for UBA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBA5 Gene

Post-translational modifications for UBA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UBA5 Gene

Domains & Families for UBA5 Gene

Gene Families for UBA5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for UBA5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9GZZ9

UniProtKB/Swiss-Prot:

UBA5_HUMAN :
  • Belongs to the ubiquitin-activating E1 family. UBA5 subfamily.
Family:
  • Belongs to the ubiquitin-activating E1 family. UBA5 subfamily.
genes like me logo Genes that share domains with UBA5: view

Function for UBA5 Gene

Molecular function for UBA5 Gene

UniProtKB/Swiss-Prot Function:
E1-like enzyme which activates UFM1 and SUMO2.

Phenotypes From GWAS Catalog for UBA5 Gene

Gene Ontology (GO) - Molecular Function for UBA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
GO:0008641 ubiquitin-like modifier activating enzyme activity IEA --
GO:0046872 metal ion binding IEA --
GO:0071566 UFM1 activating enzyme activity IMP 27545681
genes like me logo Genes that share ontologies with UBA5: view
genes like me logo Genes that share phenotypes with UBA5: view

Human Phenotype Ontology for UBA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UBA5 Gene

MGI Knock Outs for UBA5:

Animal Model Products

  • Taconic Biosciences Mouse Models for UBA5

Clone Products

  • Addgene plasmids for UBA5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for UBA5 Gene

Localization for UBA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBA5 Gene

Cytoplasm. Nucleus. Note=Localizes mainly in cytoplasm, while it mainly localizes to the nucleus in presence of SUMO2 (PubMed:18442052).

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 UBA5 gene
Compartment Confidence
cytosol 5
nucleus 4
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 26872069
GO:0005829 cytosol IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with UBA5: view

Pathways & Interactions for UBA5 Gene

genes like me logo Genes that share pathways with UBA5: view

Gene Ontology (GO) - Biological Process for UBA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033146 regulation of intracellular estrogen receptor signaling pathway IMP 25219498
GO:0034976 response to endoplasmic reticulum stress IDA 23152784
GO:0071569 protein ufmylation IMP 23152784
GO:1990592 protein K69-linked ufmylation IDA 25219498
genes like me logo Genes that share ontologies with UBA5: view

No data available for SIGNOR curated interactions for UBA5 Gene

Drugs & Compounds for UBA5 Gene

No Compound Related Data Available

Transcripts for UBA5 Gene

Unigene Clusters for UBA5 Gene

Ubiquitin-like modifier activating enzyme 5:
Representative Sequences:

Clone Products

  • Addgene plasmids for UBA5

Alternative Splicing Database (ASD) splice patterns (SP) for UBA5 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - -
SP2: - - -
SP3: -
SP4: -
SP5:
SP6: - - - - -
SP7:

Relevant External Links for UBA5 Gene

GeneLoc Exon Structure for
UBA5
ECgene alternative splicing isoforms for
UBA5

Expression for UBA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBA5 Gene

Protein differential expression in normal tissues from HIPED for UBA5 Gene

This gene is overexpressed in Skin (13.2) and Salivary gland (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBA5 Gene



Protein tissue co-expression partners for UBA5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBA5 Gene:

UBA5

SOURCE GeneReport for Unigene cluster for UBA5 Gene:

Hs.170737

mRNA Expression by UniProt/SwissProt for UBA5 Gene:

Q9GZZ9-UBA5_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for UBA5 Gene

  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with UBA5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBA5 Gene

Orthologs for UBA5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBA5 33 34
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia UBA5 33 34
  • 93.32 (n)
cow
(Bos Taurus)
Mammalia UBA5 33 34
  • 92.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 89 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Uba5 33
  • 86.07 (n)
mouse
(Mus musculus)
Mammalia Uba5 33 16 34
  • 85.49 (n)
oppossum
(Monodelphis domestica)
Mammalia UBA5 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBA5 33 34
  • 79.51 (n)
lizard
(Anolis carolinensis)
Reptilia UBA5 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uba5 33
  • 74.71 (n)
Str.11058 33
zebrafish
(Danio rerio)
Actinopterygii uba5 33 34
  • 70.45 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG1749 33 34
  • 63.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009012 33
  • 61.67 (n)
worm
(Caenorhabditis elegans)
Secernentea T03F1.1 33
  • 64.45 (n)
uba-5 34
  • 57 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA4 34
  • 17 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G05350 33
  • 60.47 (n)
soybean
(Glycine max)
eudicotyledons Gma.6428 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8934 33
rice
(Oryza sativa)
Liliopsida Os02g0506500 33
  • 65.72 (n)
Os.10838 33
barley
(Hordeum vulgare)
Liliopsida Hv.8523 33
wheat
(Triticum aestivum)
Liliopsida Ta.12503 33
corn
(Zea mays)
Liliopsida Zm.4992 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14028 33
Species where no ortholog for UBA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UBA5 Gene

ENSEMBL:
Gene Tree for UBA5 (if available)
TreeFam:
Gene Tree for UBA5 (if available)

Paralogs for UBA5 Gene

Paralogs for UBA5 Gene

Pseudogenes.org Pseudogenes for UBA5 Gene

genes like me logo Genes that share paralogs with UBA5: view

Variants for UBA5 Gene

Sequence variations from dbSNP and Humsavar for UBA5 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs114925667 pathogenic, Epileptic encephalopathy, early infantile, 44, not provided, Epileptic encephalopathy, early infantile, 44 (EIEE44) [MIM:617132] 132,675,903(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs374052333 pathogenic, Epileptic encephalopathy, early infantile, 44 132,671,032(+) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs532178791 pathogenic, Epileptic encephalopathy, early infantile, 44, Epileptic encephalopathy, early infantile, 44 (EIEE44) [MIM:617132] 132,665,830(+) A/G coding_sequence_variant, initiator_codon_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs540839115 pathogenic, Spinocerebellar ataxia, autosomal recessive 24 132,672,101(+) C/A/T coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs745968949 pathogenic, Epileptic encephalopathy, early infantile, 44 132,675,290(+) C/A/T coding_sequence_variant, intron_variant, stop_gained, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for UBA5 Gene

Variant ID Type Subtype PubMed ID
nsv4014 CNV insertion 18451855
nsv591798 CNV loss 21841781
nsv591799 CNV gain 21841781
nsv998211 CNV loss 25217958

Variation tolerance for UBA5 Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 49.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBA5 Gene

Human Gene Mutation Database (HGMD)
UBA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBA5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBA5 Gene

Disorders for UBA5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for UBA5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search UBA5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UBA5_HUMAN
  • Epileptic encephalopathy, early infantile, 44 (EIEE44) [MIM:617132]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE44 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:27545674, ECO:0000269 PubMed:27545681}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia, autosomal recessive, 24 (SCAR24) [MIM:617133]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR24 patients manifest gait instability and speech difficulties with onset in childhood. Clinical features include gait and limb ataxia, dysarthria, nystagmus, cataracts, and cerebellar atrophy on brain imaging. {ECO:0000269 PubMed:26872069}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UBA5

genes like me logo Genes that share disorders with UBA5: view

No data available for Genatlas for UBA5 Gene

Publications for UBA5 Gene

  1. Isolation and characterization of ubiquitin-activating enzyme E1-domain containing 1, UBE1DC1. (PMID: 16328888) Dou T … Mao Y (Molecular biology reports 2005) 3 4 22 58
  2. A novel protein-conjugating system for Ufm1, a ubiquitin-fold modifier. (PMID: 15071506) Komatsu M … Tanaka K (The EMBO journal 2004) 2 3 4 58
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  4. UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia. (PMID: 26872069) Duan R … Tang B (PloS one 2016) 3 4 58
  5. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. (PMID: 27545674) Muona M … Komatsu M (American journal of human genetics 2016) 3 4 58

Products for UBA5 Gene

  • Addgene plasmids for UBA5

Sources for UBA5 Gene

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