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UBASH3A Gene

protein-coding   GIFtS: 62

GC21P042697
ubiquitin associated and SH3 domain containing, A
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase, and/or 9Nature:405,311-319 and CroW21)
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Aliases
CLIP4 1, 2, 3
STS-2 1, 2, 3
STS2 3
TULA 1, 2, 3
Descriptions
Cbl-interacting protein 4 3
Suppressor of T-cell receptor signaling 2 3
T-cell ubiquitin ligand 3
T-cell ubiquitin ligand protein 2
gene similar to UBA containing SH3 domain 9
ubiquitin associated and SH3 domain containing, A 2
External Ids
HGNC: 124621
Entrez Gene: 533472
UniProtKB: P570753
Ensembl: ENSG000001601857
Search outside databases for aliases for UBASH3A gene

Previous GC identifers: GC21P040371 GC21P042718

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: UBS3A_HUMAN, P57075
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

Gene Wiki entry for UBASH3A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
UBASH3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P042697:   GeneLoc Nature:405,311-319
Start:
42,697,088 bp from pter       29,371,350 bp from centromere
End:
42,740,843 bp from pter 29,415,100 bp from centromere
Size:
43,756 bases 43,751 bases
Orientation:
plus strand plus strand
RefSeq DNA sequence:
NC_000021.7  NT_030188.4  

genomic clones: KB169B4 KB994G8

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: UBS3A_HUMAN, P57075 (See protein sequence)
Recommended Name: Ubiquitin-associated and SH3 domain-containing protein A  
Size: 661 amino acids; 74123 Da
Subunit: Homodimer or homooligomer. Interacts with CBL. Part of a complex containing CBL and
activated EGFR. Interacts with ubiquitin and with mono-ubiquitinated proteins
Subcellular location: Cytoplasm. Nucleus
PDB structures from and Proteopedia :
2CRN (3D)    
Secondary accessions: Q6HA34 Q6HA35 Q6ISI6 Q6ISK3 Q6ISS9
Alternative splicing: 2 isoforms:  P57075-1   P57075-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001001895.1  NP_061834.1  


    ENSEMBL proteins: 
    ENSP00000381408 ENSP00000317327 ENSP00000291535 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (UBASH3A)
    Human Recombinant Proteins from Abnova (UBASH3A)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol IDA16780588
    About this table

    Antibodies for UBASH3A: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for UBASH3A
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (UBASH3A), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (UBASH3A)
    Novus Biologicals Antibodies for UBASH3A

    Assays for UBASH3A: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    4 InterPro domains/families:
     IPR001452 SH3_domain
     IPR000449 UBA/transl_elong_EF1B_N
     IPR013078 PG_mutase
     IPR015940 UBA/transl_elong_EF1B_N_euk


       GeneDecks  UBASH3A for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P57075

    ProtoNet protein and cluster: P57075

    2 Blocks protein families:
    IPB001345 Phosphoglycerate/bisphosphoglycerate mutase
    IPB001452 SH3 domain signature


    UniProtKB/Swiss-Prot: UBS3A_HUMAN, P57075
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 1 UBA domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (UBASH3A)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (UBASH3A)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): BC028138

                  Applied Biosystems Silencer® siRNAs for UBASH3A

                  Sigma-Aldrich siRNA and siRNA Panels for UBASH3A  
                         Sigma-Aldrich shRNA Panels and shRNA for UBASH3A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for UBASH3A
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001001895
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001001895
                                     untagged cDNA clones in CMV expression vector (see all 3): BC028138 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_018961

    UniProtKB/Swiss-Prot: UBS3A_HUMAN, P57075
    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

    3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ubash3a):

    hematopoietic systemimmune systemnormal

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  UBASH3A 


    5/14 Interacting proteins for UBASH3A (P570752 ENSP000003173273) via UniProtKB, MINT, and/or STRING (see all 14 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP629882, ENSP000003448183MINT-5208635 STRING (score=.938)
    PARK2O602602MINT-5208683
    RPS27AP629882MINT-5208635
    RPS27AP11P629882MINT-5208635
    RPS27AP12P629882MINT-5208635
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for UBASH3A

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (UBASH3A)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (UBASH3A)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): BC028138

                  Sigma-Aldrich siRNA and siRNA Panels for UBASH3A  
                         Sigma-Aldrich shRNA Panels and shRNA for UBASH3A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001001895  NM_018961  

    REFSEQ mRNAs for UBASH3A gene (2 alternative transcripts): 

    NM_001001895.1   NM_018961.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001001895  NM_018961  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001001895
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001001895
                                     untagged cDNA clones in CMV expression vector (see all 3): BC028138 

    Additional cDNA sequence: 

    AF520809.1 AF521702.1 AJ277750.1 AK301279.1 AK308151.1 AK313367.1 BC028138.1 BC069357.1 
    BC069483.1 BC069511.1 BC069577.1 

    6 DOTS entries:

    DT.306606  DT.95363856  DT.101980504  DT.100694701  DT.121132784  DT.435981 

    24/30 AceView cDNA sequences (see all 30 ):

    AI056645 NM_001001895 NM_018961 AF521702 AJ277750 BC069357 BC028138 AA355926 
    BC069483 BI907563 BC069577 BX328099 AJ003495 AF520809 BX105291 AA707211 
    BX443486 BC069511 AA355773 BX448943 BX448944 AJ003414 BP368078 AJ003492 

    highest scoring ESTs for UBASH3A:

    AJ003495 AA707211 AF520809 AF521702 AI056645 AJ003455 AJ003480 AJ003486 AJ277750 BC028138 

    Unigene Cluster for UBASH3A:

    Ubiquitin associated and SH3 domain containing, A
    Hs.473912  [show with all ESTs]
    Unigene Representative Sequence: BC028138


    GeneLoc Exon Structure

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

    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:                                                                                                                                          

    About this scheme

    ECgene alternative splicing isoforms for UBASH3A

    3 Ensembl transcripts including schematic representations:
    ENST00000398367  ENST00000319294  ENST00000291535  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    UBASH3A expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for UBASH3A

    1 / 2 / 3

    3 probe-sets matching UBASH3A gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    85210_at2, 3 U95-E 1 1.00 1.00 1.00 1.00 AJ003495 1.00 1.00 1.00 1

    220418_at2, 3 U133-A 1 1.00 1.00 -- -- NM_018961 0.60 1.00 0.82 1

    220418_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  UBASH3A for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGCTTCTGTG

    SOURCE GeneReport for Unigene cluster: Hs.473912

    UniProtKB/Swiss-Prot: UBS3A_HUMAN, P57075
    Tissue specificity: Highest expression of UBASH3A in tissues belonging to the immune system,
    including spleen, peripheral blood leukocytes, thymus and bone marrow

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for UBASH3A gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    UBASH3A1   -- ubiquitin associated and SH3 domain containing, A 85.64(n)
    85.85(a)
    487779  XM_544904.2  XP_544904.2 
    chimpanzee
    (Pan troglodytes)
    UBASH3A1   -- ubiquitin associated and SH3 domain containing, A 98.94(n)
    98.64(a)
    474125  XM_001136128.1  XP_001136128.1 
    cow
    (Bos taurus)
    UBASH3A1   -- ubiquitin associated and SH3 domain containing, A 83.65(n)
    84.73(a)
    514555  NM_001015599.1  NP_001015599.1 
    rat
    (Rattus norvegicus)
    Ubash3a1   -- ubiquitin associated and SH3 domain containing, A 80.95(n)
    82.5(a)
    309666  XM_228060.4  XP_228060.4 
    mouse
    (Mus musculus)
    Ubash3a1, 5 175
    ubiquitin associated and SH3 domain containing, A1, 5 80.59(n)1
    81.05(a)1
    3287951  NM_177823.31  NP_808491.11 
     AK0200095  AK0405725  (see all 15)
    About this table        Species with no ortholog for UBASH3A

    ENSEMBL Gene Tree for UBASH3A
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for UBASH3A gene
    UBASH3B2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/301 NCBI SNPs in UBASH3A are shown (see all 301 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 180)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 21 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs93256351,2
    A,C,F,H42696358(+) TTCCCG/AGCCTC 2 -- ng513Minor allele frequency- A:0.48EA WA 270
    rs119099871,2
    A,C,F,H42695471(+) gtgtgC/Aatgag 2 -- ng514Minor allele frequency- A:0.44EU EA WA 416
    rs22777981,2
    A,C,F,H42697175(+) TCAAGG/AGCCGC 2 G/S mis1 ese37Minor allele frequency- A:0.46EU EA WA NA 660
    rs119099301,2
    A,C,F,H42695269(+) aaacaC/Acctag 2 -- ng513Minor allele frequency- A:0.41EU EA 268
    rs119100481,2
    A,C,F,H42695645(+) acaacC/Tgaaaa 2 -- ng518Minor allele frequency- T:0.45EU EA WA 834
    rs22777971,2
    A,C,F,H42696979(+) ATCTCA/GTGCAA 2 -- ng5118Minor allele frequency- N:0.00EA NS NA EU WA 2574
    rs28395191,2
    C,F,H,O42740913(+) CTGTGG/ATTGCT 2 -- ng3116Minor allele frequency- A:0.10NA EU EA WA 1407
    rs97842151,2
    A,C,F,H42696805(+) CCTTCC/ACCCAT 2 -- ng51 trp34Minor allele frequency- A:0.45EU EA WA 412
    rs171149301,2
    C,F,H42730671(+) GGGGAC/GGCGCT 2 D/E mis1 ese312Minor allele frequency- G:0.07NA EU EA WA 1060
    rs130480491,2
    C,F,H42711712(+) ACAGCA/G/TGACGG 4 R/Q R/L mis1 ese39EU EA WA NA 912
    About this table

    HapMap Linkage Disequilibrium images for UBASH3A (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 605736

    1 PharmGKB disease relationship for UBASH3A gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
    About this table

    Human Genome Epidemiology Navigator: UBASH3A (2 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/14 PubMed articles for UBASH3A gene (see all 14 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 53347 HGNC: 12462 AceView: UBASH3A Ensembl:ENSG00000160185 euGenes: HUgn53347
    ECgene: UBASH3A H-InvDB: UBASH3A
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for UBASH3A:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
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     Predesigned and custom siRNAs for UBASH3A Antibodies for UBASH3A
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for UBASH3A Browse small molecules at Sigma-Aldrich
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     Antibodies for UBASH3A

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