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TESPA1 Gene

protein-coding   GIFtS: 38
GCID: GC12M055341

Thymocyte Expressed, Positive Selection Associated 1

(Previous name: KIAA0748)
(Previous symbol: KIAA0748)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Thymocyte Expressed, Positive Selection Associated 11 2
KIAA07481 2 3 5
Thymocyte-Expressed Positive Selection-Associated Protein 12 3
Protein TESPA12

External Ids:    HGNC: 291091   Entrez Gene: 98402   Ensembl: ENSG000001354267   OMIM: 6156645   UniProtKB: A2RU303   

Export aliases for TESPA1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TESPA1 Gene:
TESPA1 (thymocyte expressed, positive selection associated 1) is a protein-coding gene. An important paralog of this gene is CCDC129.

UniProtKB/Swiss-Prot: TESP1_HUMAN, A2RU30
Function: Required for the development and maturation of T-cells, its function being essential for the late stages
of thymocyte development (By similarity). Plays a role in T-cell antigen receptor (TCR)-mediated activation of
the ERK and NFAT signaling pathways, possibly by serving as a scaffolding protein that promotes the assembly of
the LAT signalosome in thymocytes




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TESPA1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TESPA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TESPA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.2   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13.2

TESPA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TESPA1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M055341:  view genomic region     (about GC identifiers)

Start:
55,341,802 bp from pter      End:
55,378,530 bp from pter
Size:
36,729 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TESP1_HUMAN, A2RU30 (See protein sequence)
Recommended Name: Protein TESPA1  
Size: 521 amino acids; 59213 Da
Subunit: Interacts with PLCG1 and GRB2; the association is increased with prolonged stimulation of the TCR and may
facilitate the assembly of the LAT signalosome
Sequence caution: Sequence=AAF28935.1; Type=Frameshift; Positions=511;
Secondary accessions: B4DPM3 B4E048 B7Z9K7 O94849 Q4G0P2 Q9P0C4
Alternative splicing: 3 isoforms:  A2RU30-1   A2RU30-2   A2RU30-3   

Explore the universe of human proteins at neXtProt for TESPA1: NX_A2RU30

Explore proteomics data for TESPA1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys193, Lys289, Lys308
  • Modification sites at PhosphoSitePlus

  • See TESPA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001092285.1  NP_001129502.1  NP_001248773.1  NP_055611.1  

    ENSEMBL proteins: 
     ENSP00000435622   ENSP00000434811   ENSP00000436753   ENSP00000432030   ENSP00000400892  
     ENSP00000312679   ENSP00000436286   ENSP00000433098   ENSP00000433187   ENSP00000435734  
     ENSP00000434039   ENSP00000436635   ENSP00000433895  

    TESPA1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for TESPA1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026647 TESPA1

    Graphical View of Domain Structure for InterPro Entry A2RU30

    ProtoNet protein and cluster: A2RU30


    Find genes that share domains with TESPA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TESP1_HUMAN, A2RU30
    Function: Required for the development and maturation of T-cells, its function being essential for the late stages
    of thymocyte development (By similarity). Plays a role in T-cell antigen receptor (TCR)-mediated activation of
    the ERK and NFAT signaling pathways, possibly by serving as a scaffolding protein that promotes the assembly of
    the LAT signalosome in thymocytes

    Phenotypes:
         1 GenomeRNAi human phenotype for TESPA1:

     Increased G1 DNA content 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tespa1):
     hematopoietic system  immune system 

    Find genes that share phenotypes with TESPA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tespa1tm1Lrgl for TESPA1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TESPA1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TESPA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TESPA1

    miRNA
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    miRTarBase miRNAs that target TESPA1:
    hsa-mir-335-5p (MIRT017883)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TESP1_HUMAN, A2RU30: Cytoplasm

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0008180COP9 signalosome IDA--

    Find genes that share ontologies with TESPA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TESPA1
    Interactions:

        Search GeneGlobe Interaction Network for TESPA1

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010387COP9 signalosome assembly ISS--
    GO:0033089positive regulation of T cell differentiation in thymus ISS--
    GO:0050862positive regulation of T cell receptor signaling pathway ISS--

    Find genes that share ontologies with TESPA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TESPA1 (TESP1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TESPA1 gene (4 alternative transcripts): 
    NM_001098815.2  NM_001136030.2  NM_001261844.1  NM_014796.2  

    Unigene Cluster for TESPA1:

    Thymocyte expressed, positive selection associated 1
    Hs.33187  [show with all ESTs]
    Unigene Representative Sequence: AB018291
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524622(uc001sgl.3 uc010spc.1) ENST00000524923(uc010spb.1)
    ENST00000528240 ENST00000532804(uc001sgm.3) ENST00000449076(uc001sgn.3 uc010spd.1)
    ENST00000316577 ENST00000532757 ENST00000531122 ENST00000524959 ENST00000526532
    ENST00000533446 ENST00000525978 ENST00000524668 ENST00000533607
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TESPA1
      QuantiFast Probe-based Assays in human, mouse, rat TESPA1

    Additional mRNA sequence: 

    AB018291.1 AF161375.1 AK295026.1 AK298405.1 AK303223.1 AK315972.1 BC037220.1 BC044578.1 
    BC132732.1 BC132734.1 

    11 DOTS entries:

    DT.206275  DT.121200047  DT.121200032  DT.91677876  DT.121200028  DT.100757847  DT.121200035  DT.121200037 
    DT.121200041  DT.121200044  DT.95200418 

    Selected AceView cDNA sequences (see all 72):

    BX481720 BP349489 CR600998 AA354573 AA355649 AA984688 AA354038 BX497991 
    BI016158 N73327 BX481719 BI824345 BU191814 AF161375 AI124711 BG219833 
    AW962076 BV203033 Z39735 BX421586 BG236068 AW016725 AB018291 BP349560 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TESPA1 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d ^ 10 ^
    SP1:                                                              -     -     -                                                                                 
    SP2:              -     -     -     -     -     -                 -     -     -                                                                                 
    SP3:                                -     -     -                 -     -     -                                                                                 
    SP4:                                                              -     -     -                                         -     -                                 
    SP5:                                                              -     -     -                                                     -     -     -     -     -   

    ExUns: 11a · 11b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for TESPA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TESPA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TESPA1 Expression
    About this image


    TESPA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Adipose (Muscoskeletal System)
             Body Subcutaneous White Adipose
    TESPA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TESPA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.33187
        Custom PCR Arrays for TESPA1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TESPA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TESPA1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tespa11 , 5 thymocyte expressed, positive selection associated more1, 5 79.54(n)1
    72.19(a)1
      10 (77.85 cM)5
    675961  NM_183264.41  NP_899087.21 
     1303228525 
    lizard
    (Anolis carolinensis)
    Reptilia TESPA16
    thymocyte expressed, positive selection associated...
    54(a)
    1 ↔ 1
    GL343252.1(1021060-1023597)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tespa11 thymocyte expressed, positive selection associated more 55.56(n)
    43.72(a)
      100490993  XM_002935653.2  XP_002935699.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tespa16
    thymocyte expressed, positive selection associated...
    25(a)
    1 ↔ 1
    6(46634894-46661430) ENSDARG00000053311


    ENSEMBL Gene Tree for TESPA1 (if available)
    TreeFam Gene Tree for TESPA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TESPA1 gene
    CCDC1292  SSFA22  

    Find genes that share paralogs with TESPA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TESPA1 (see all 939)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2003828691,2
    Cuntested155355015(+) CCAGCA/GACTCT 8 R C mis10--------
    rs1874545321,2
    --55341649(+) GGCTGG/TTTCAT 4 -- ds50010--------
    rs79583671,2
    C,F,H--55341650(+) gctggT/Atcatc 4 -- ds50013Minor allele frequency- A:0.00EA NS 276
    rs1903684761,2
    --55341658(+) ATCGGA/GGGACC 4 -- ds50010--------
    rs123184231,2
    C--55341670(+) gaggtC/Tgtagg 4 -- ds50013Minor allele frequency- T:0.06NA 124
    rs776267141,2
    C--55341699(+) TAAAGA/GGCAGA 4 -- ds50012Minor allele frequency- G:0.25WA 4
    rs1836024671,2
    --55341725(+) TCTCCC/TCAGGG 4 -- ds50010--------
    rs1880927721,2
    --55341726(+) CTCCCA/CAGGGA 4 -- ds50010--------
    rs1929128021,2
    --55341743(+) CCGATC/TGAAGT 4 -- ds50010--------
    rs1845236541,2
    --55341744(+) CGATCA/GAAGTC 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for TESPA1 (55341802 - 55378530 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TESPA1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TESPA1
    DNA2.0 Custom Variant and Variant Library Synthesis for TESPA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615664    OMIM disorders: --


    Find genes that share disorders with TESPA1           About GenesLikeMe


    Export disorders for TESPA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TESPA1 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with TESPA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    2. Tespa1 protein is phosphorylated in response to store-operated calcium entry. (PubMed id 23541577)1 Fujimoto T....Shirasawa S. (Biochem. Biophys. Res. Commun. 2013)
    3. Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux. (PubMed id 23501103)1 Matsuzaki H....Shirasawa S. (Biochem. Biophys. Res. Commun. 2013)
    4. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    5. Tespa1 is involved in late thymocyte development through the regulation of TCR-mediated signaling. (PubMed id 22561606)2 Wang D.... Lu L. (Nat. Immunol. 2012)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    9. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    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, Kegg, and/or H-InvDB)
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    Entrez Gene: 9840 HGNC: 29109 AceView: KIAA0748 Ensembl:ENSG00000135426 euGenes: HUgn9840
    ECgene: TESPA1 H-InvDB: TESPA1

    (According to HUGE)
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    HUGE: KIAA0748

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TESPA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TESPA1 gene:
    Search GeneIP for patents involving TESPA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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