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Aliases for UBASH3A Gene

Aliases for UBASH3A Gene

  • Ubiquitin Associated And SH3 Domain Containing A 2 3 5
  • Suppressor Of T-Cell Receptor Signaling 2 3 4
  • T-Cell Ubiquitin Ligand Protein 2 3
  • Cbl-Interacting Protein 4 3 4
  • T-Cell Ubiquitin Ligand 1 3 4
  • TULA-1 3 4
  • CLIP4 3 4
  • STS-2 3 4
  • Ubiquitin-Associated And SH3 Domain-Containing Protein A 3
  • TULA 3
  • STS2 4

External Ids for UBASH3A Gene

Previous GeneCards Identifiers for UBASH3A Gene

  • GC21P040371
  • GC21P042718
  • GC21P042697
  • GC21P043824
  • GC21P029250

Summaries for UBASH3A Gene

Entrez Gene Summary for UBASH3A Gene

  • This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for UBASH3A Gene

UBASH3A (Ubiquitin Associated And SH3 Domain Containing A) is a Protein Coding gene. Diseases associated with UBASH3A include Dirofilariasis and Erysipeloid. An important paralog of this gene is UBASH3B.

UniProtKB/Swiss-Prot for UBASH3A Gene

  • Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors, EGFR and PDGFRB, on the cell surface. Exhibits negligigle protein tyrosine phosphatase activity at neutral pH. May act as a dominant-negative regulator of UBASH3B-dependent dephosphorylation. May inhibit dynamin-dependent endocytic pathways by functionally sequestering dynamin via its SH3 domain.

Gene Wiki entry for UBASH3A Gene

Additional gene information for UBASH3A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBASH3A Gene

Genomics for UBASH3A Gene

Regulatory Elements for UBASH3A Gene

Enhancers for UBASH3A 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
GH21H042923 1.4 Ensembl ENCODE 10.9 +525.6 525581 11 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B ZNF766 ZNF207 ZNF143 U2AF1 WDR4 RRP1B ENSG00000233754 NDUFV3 SIK1 ENSG00000224100 PKNOX1 FRGCA UBASH3A
GH21H042423 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.4 +21.4 21350 3 HDGF BMI1 BATF ZNF143 ZNF207 ATF7 ETV6 RUNX3 IKZF2 CREM UMODL1 TMPRSS3 TFF1 TFF3 TFF2 ZBTB21 ABCG1 UBASH3A C2CD2 RNU6-1149P
GH21H042055 1.4 Ensembl ENCODE dbSUPER 5.1 -346.0 -346002 2 FOXA2 PKNOX1 NFIB SIN3A BMI1 ZBTB7B RAD21 YY1 ELK1 ZNF207 UBASH3A UMODL1 UMODL1-AS1
GH21H042231 1.9 FANTOM5 Ensembl ENCODE dbSUPER 3.3 -168.0 -167986 7 HDGF PKNOX1 SIN3A FEZF1 TCF12 GLIS2 ZNF143 ZNF207 ATF7 ZNF548 ABCG1 UMODL1 PRDM15 ENSG00000233754 U2AF1 TFF2 ZBTB21 WDR4 C2CD2 UBASH3A
GH21H042457 1.9 FANTOM5 Ensembl ENCODE dbSUPER 2.7 +58.4 58449 8 HDGF FOXA2 PKNOX1 ATF1 YY1 TCF12 ZNF207 ATF7 FOS RUNX3 SLC37A1 RSPH1 ZBTB21 PRDM15 LOC101930094 ABCG1 TFF2 WDR4 UMODL1 UBASH3A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBASH3A on UCSC Golden Path with GeneCards custom track

Genomic Location for UBASH3A Gene

Chromosome:
21
Start:
42,403,447 bp from pter
End:
42,447,688 bp from pter
Size:
44,242 bases
Orientation:
Plus strand

Genomic View for UBASH3A Gene

Genes around UBASH3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBASH3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBASH3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBASH3A Gene

Proteins for UBASH3A Gene

  • Protein details for UBASH3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57075-UBS3A_HUMAN
    Recommended name:
    Ubiquitin-associated and SH3 domain-containing protein A
    Protein Accession:
    P57075
    Secondary Accessions:
    • G5E9E4
    • Q6HA34
    • Q6HA35
    • Q6ISI6
    • Q6ISK3
    • Q6ISS9

    Protein attributes for UBASH3A Gene

    Size:
    661 amino acids
    Molecular mass:
    74123 Da
    Quaternary structure:
    • Homodimer or homooligomer. Interacts with CBL. Part of a complex containing CBL and activated EGFR. Interacts with ubiquitin and with mono-ubiquitinated proteins. Interacts with dynamin.

    Three dimensional structures from OCA and Proteopedia for UBASH3A Gene

    Alternative splice isoforms for UBASH3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBASH3A Gene

Post-translational modifications for UBASH3A Gene

  • Ubiquitination at Lys240, Lys347, Lys413, Lys425, Lys445, Lys516, and Lys521
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBASH3A Gene

Domains & Families for UBASH3A Gene

Gene Families for UBASH3A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for UBASH3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with UBASH3A: view

No data available for UniProtKB/Swiss-Prot for UBASH3A Gene

Function for UBASH3A Gene

Molecular function for UBASH3A Gene

UniProtKB/Swiss-Prot Function:
Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors, EGFR and PDGFRB, on the cell surface. Exhibits negligigle protein tyrosine phosphatase activity at neutral pH. May act as a dominant-negative regulator of UBASH3B-dependent dephosphorylation. May inhibit dynamin-dependent endocytic pathways by functionally sequestering dynamin via its SH3 domain.

Phenotypes From GWAS Catalog for UBASH3A Gene

Gene Ontology (GO) - Molecular Function for UBASH3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with UBASH3A: view
genes like me logo Genes that share phenotypes with UBASH3A: view

Animal Models for UBASH3A Gene

MGI Knock Outs for UBASH3A:

Animal Model Products

CRISPR Products

miRNA for UBASH3A Gene

miRTarBase miRNAs that target UBASH3A

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UBASH3A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBASH3A Gene

Localization for UBASH3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBASH3A Gene

Cytoplasm. Nucleus.

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 UBASH3A gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for UBASH3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 16780588
GO:0070062 extracellular exosome IDA 18570454
genes like me logo Genes that share ontologies with UBASH3A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UBASH3A Gene

Pathways & Interactions for UBASH3A Gene

SuperPathways for UBASH3A Gene

No Data Available

Gene Ontology (GO) - Biological Process for UBASH3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001817 regulation of cytokine production IEA --
GO:0050860 negative regulation of T cell receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with UBASH3A: view

No data available for Pathways by source and SIGNOR curated interactions for UBASH3A Gene

Drugs & Compounds for UBASH3A Gene

No Compound Related Data Available

Transcripts for UBASH3A Gene

Unigene Clusters for UBASH3A Gene

Ubiquitin associated and SH3 domain containing A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UBASH3A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for UBASH3A Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: -
SP2: - -
SP3: - - -
SP4: - -
SP5:

Relevant External Links for UBASH3A Gene

GeneLoc Exon Structure for
UBASH3A
ECgene alternative splicing isoforms for
UBASH3A

Expression for UBASH3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBASH3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UBASH3A Gene

This gene is overexpressed in Whole Blood (x16.8), Spleen (x8.4), and Small Intestine - Terminal Ileum (x5.9).

Protein differential expression in normal tissues from HIPED for UBASH3A Gene

This gene is overexpressed in CD8 Tcells (39.8) and Peripheral blood mononuclear cells (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBASH3A Gene



Protein tissue co-expression partners for UBASH3A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBASH3A Gene:

UBASH3A

SOURCE GeneReport for Unigene cluster for UBASH3A Gene:

Hs.473912

mRNA Expression by UniProt/SwissProt for UBASH3A Gene:

P57075-UBS3A_HUMAN
Tissue specificity: Highest expression of UBASH3A in tissues belonging to the immune system, including spleen, peripheral blood leukocytes, thymus and bone marrow.
genes like me logo Genes that share expression patterns with UBASH3A: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBASH3A Gene

Orthologs for UBASH3A Gene

This gene was present in the common ancestor of animals.

Orthologs for UBASH3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBASH3A 33 34
  • 98.82 (n)
dog
(Canis familiaris)
Mammalia UBASH3A 33 34
  • 85.64 (n)
cow
(Bos Taurus)
Mammalia UBASH3A 33 34
  • 83.65 (n)
mouse
(Mus musculus)
Mammalia Ubash3a 33 16 34
  • 81.86 (n)
oppossum
(Monodelphis domestica)
Mammalia UBASH3A 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBASH3A 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBASH3A 33 34
  • 68.28 (n)
lizard
(Anolis carolinensis)
Reptilia UBASH3A 34
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13604 35 34
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea T07F12.1 35 34
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
ManyToMany
-- 34
  • 34 (a)
ManyToMany
Species where no ortholog for UBASH3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • 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)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for UBASH3A Gene

ENSEMBL:
Gene Tree for UBASH3A (if available)
TreeFam:
Gene Tree for UBASH3A (if available)

Paralogs for UBASH3A Gene

Paralogs for UBASH3A Gene

(1) SIMAP similar genes for UBASH3A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with UBASH3A: view

Variants for UBASH3A Gene

Sequence variations from dbSNP and Humsavar for UBASH3A Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000015408 -- 42,411,665(+) CTGGC(C/T)TGGCC intron-variant, upstream-variant-2KB
rs1000256693 -- 42,406,763(+) TTTAT(-/TA)ATTAG intron-variant
rs1000298597 -- 42,425,829(+) TTGCA(A/G)ATGGG intron-variant
rs1000383516 -- 42,401,905(+) TACCC(C/T)TACCT upstream-variant-2KB
rs1000394514 -- 42,430,956(+) TGAAG(A/G)GCCGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBASH3A Gene

Variant ID Type Subtype PubMed ID
dgv2498e59 CNV duplication 20981092
esv2723546 CNV deletion 23290073
esv3568207 CNV loss 25503493
esv998022 CNV gain 20482838
nsv1058212 CNV loss 25217958
nsv459275 CNV loss 19166990
nsv475164 CNV novel sequence insertion 20440878
nsv522001 CNV gain 19592680
nsv587630 CNV loss 21841781
nsv587631 CNV loss 21841781

Variation tolerance for UBASH3A Gene

Residual Variation Intolerance Score: 79.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.66; 65.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBASH3A Gene

Human Gene Mutation Database (HGMD)
UBASH3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBASH3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBASH3A Gene

Disorders for UBASH3A Gene

MalaCards: The human disease database

(4) MalaCards diseases for UBASH3A Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
dirofilariasis
  • dirofilaria infectious disease
erysipeloid
  • infection due to erysipelothrix rhusiopathiae
cecal disease
  • disorder of cecum
dental fluorosis
  • intrinsic enamel discolouration of fluorosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for UBASH3A

Genetic Association Database (GAD)
UBASH3A
Human Genome Epidemiology (HuGE) Navigator
UBASH3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBASH3A
genes like me logo Genes that share disorders with UBASH3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBASH3A Gene

Publications for UBASH3A Gene

  1. TULA proteins regulate activity of the protein tyrosine kinase Syk. (PMID: 18189269) Agrawal R … Tsygankov A (Journal of cellular biochemistry 2008) 3 4 22 60
  2. Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. (PMID: 11281453) Wattenhofer M … Scott HS (Human genetics 2001) 2 3 4 60
  3. Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. (PMID: 21829393) Plagnol V … Todd JA (PLoS genetics 2011) 3 45 60
  4. Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. (PMID: 21383967) Zhernakova A … Plenge RM (PLoS genetics 2011) 3 45 60
  5. Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis. (PMID: 20647273) Hinks A … Thomson W (Annals of the rheumatic diseases 2010) 3 45 60

Products for UBASH3A Gene

Sources for UBASH3A Gene

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