Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TESPA1 Gene

Aliases for TESPA1 Gene

  • Thymocyte Expressed, Positive Selection Associated 1 2 3 5
  • KIAA0748 2 3 4
  • Thymocyte-Expressed Positive Selection-Associated Protein 1 3 4
  • Protein TESPA1 3
  • HSPC257 3

External Ids for TESPA1 Gene

Previous HGNC Symbols for TESPA1 Gene

  • KIAA0748

Previous GeneCards Identifiers for TESPA1 Gene

  • GC12M055341

Summaries for TESPA1 Gene

GeneCards Summary for TESPA1 Gene

TESPA1 (Thymocyte Expressed, Positive Selection Associated 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include receptor binding. An important paralog of this gene is SSFA2.

UniProtKB/Swiss-Prot for TESPA1 Gene

  • 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. May play a role in the regulation of inositol 1,4,5-trisphosphate receptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptake via the mitochondria-associated endoplasmic reticulum membrane (MAM) compartment.

Additional gene information for TESPA1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TESPA1 Gene

Genomics for TESPA1 Gene

GeneHancer (GH) Regulatory Elements for TESPA1 Gene

Promoters and enhancers for TESPA1 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
GH12I054976 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 583.3 +3.6 3563 9.9 HDGF PKNOX1 FOXA2 SMAD1 IRF4 ZNF766 GATA2 ZNF207 ZNF143 ATF7 TESPA1 NEUROD4 DCD GC12M054982 GC12P054960
GH12I054973 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.4 +11.6 11587 0.1 TESPA1 GC12P054960
GH12I054955 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 37.2 +28.5 28472 1.9 RFX1 TESPA1 NCKAP1L GC12P054960 LOC105369778
GH12I054932 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +49.9 49887 5.6 ATF1 ZNF766 ZNF143 FOS ATF7 JUNB REST ZNF592 SMARCA4 HMBOX1 TESPA1 NEUROD4 MUCL1 NCKAP1L OR6C65 OR6C3 LOC105369778 GC12P054906
GH12I054958 Enhancer 0.7 dbSUPER 17.9 +25.6 25601 2 CTCF PKNOX1 NR2F1 TRIM22 JUNB EBF1 DPF2 GABPA RELA ZNF544 GC12P054960 TESPA1 LOC105369778
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TESPA1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TESPA1 Gene

Genomic Locations for TESPA1 Gene
chr12:54,948,018-54,985,161
(GRCh38/hg38)
Size:
37,144 bases
Orientation:
Minus strand
chr12:55,341,802-55,378,530
(GRCh37/hg19)

Genomic View for TESPA1 Gene

Genes around TESPA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TESPA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TESPA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TESPA1 Gene

Proteins for TESPA1 Gene

  • Protein details for TESPA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A2RU30-TESP1_HUMAN
    Recommended name:
    Protein TESPA1
    Protein Accession:
    A2RU30
    Secondary Accessions:
    • B4DPM3
    • B4E048
    • B7Z9K7
    • O94849
    • Q4G0P2
    • Q9P0C4

    Protein attributes for TESPA1 Gene

    Size:
    521 amino acids
    Molecular mass:
    59213 Da
    Quaternary structure:
    • Interacts with PLCG1 and GRB2; the association is increased with prolonged stimulation of the TCR and may facilitate the assembly of the LAT signalosome. Interacts with ITPR1. Also interacts with ITPR3 (By similarity). Interacts with HSPA9.
    SequenceCaution:
    • Sequence=AAF28935.1; Type=Frameshift; Positions=511; Evidence={ECO:0000305};

    Alternative splice isoforms for TESPA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TESPA1 Gene

Post-translational modifications for TESPA1 Gene

  • May be phosphorylated in response to store-operated Ca(+2) entry.
  • Ubiquitination at posLast=1313, isoforms=2, 3193, posLast=289289, and isoforms=2, 3308

No data available for DME Specific Peptides for TESPA1 Gene

Domains & Families for TESPA1 Gene

Gene Families for TESPA1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TESPA1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TESPA1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TESPA1 Gene

Function for TESPA1 Gene

Molecular function for TESPA1 Gene

UniProtKB/Swiss-Prot 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. May play a role in the regulation of inositol 1,4,5-trisphosphate receptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptake via the mitochondria-associated endoplasmic reticulum membrane (MAM) compartment.

Gene Ontology (GO) - Molecular Function for TESPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
genes like me logo Genes that share ontologies with TESPA1: view
genes like me logo Genes that share phenotypes with TESPA1: view

Animal Models for TESPA1 Gene

MGI Knock Outs for TESPA1:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TESPA1 Gene

Localization for TESPA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TESPA1 Gene

Cytoplasm. Endoplasmic reticulum membrane. Note=May localize to mitochondria-associated endoplasmic reticulum membrane (MAM). {ECO:0000269 PubMed:23501103}.

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 TESPA1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
cytosol 2

Gene Ontology (GO) - Cellular Components for TESPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,ISS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0008180 COP9 signalosome IEA,IDA 22561606
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TESPA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TESPA1 Gene

Pathways & Interactions for TESPA1 Gene

SuperPathways for TESPA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TESPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010387 COP9 signalosome assembly ISS,IEA --
GO:0033089 positive regulation of T cell differentiation in thymus ISS --
GO:0050862 positive regulation of T cell receptor signaling pathway ISS,IEA --
genes like me logo Genes that share ontologies with TESPA1: view

No data available for Pathways by source and SIGNOR curated interactions for TESPA1 Gene

Drugs & Compounds for TESPA1 Gene

No Compound Related Data Available

Transcripts for TESPA1 Gene

Unigene Clusters for TESPA1 Gene

Thymocyte expressed, positive selection associated 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TESPA1 Gene

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: - - - - - - - -
SP6: - - - - -
SP7:
SP8: - - - -
SP9: - -
SP10:
SP11:
SP12: - - - - - -

ExUns: 11a · 11b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for TESPA1 Gene

GeneLoc Exon Structure for
TESPA1
ECgene alternative splicing isoforms for
TESPA1

Expression for TESPA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TESPA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TESPA1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x12.6), Brain - Cortex (x12.5), Brain - Anterior cingulate cortex (BA24) (x8.1), and Brain - Putamen (basal ganglia) (x4.9).

Protein differential expression in normal tissues from HIPED for TESPA1 Gene

This gene is overexpressed in Platelet (40.0), Frontal cortex (17.6), and CD4 Tcells (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TESPA1 Gene



Protein tissue co-expression partners for TESPA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TESPA1 Gene:

TESPA1

SOURCE GeneReport for Unigene cluster for TESPA1 Gene:

Hs.33187

Evidence on tissue expression from TISSUES for TESPA1 Gene

  • Nervous system(4.5)
  • Blood(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with TESPA1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TESPA1 Gene

Orthologs for TESPA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TESPA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TESPA1 33 34
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia TESPA1 33 34
  • 86.48 (n)
cow
(Bos Taurus)
Mammalia TESPA1 33 34
  • 86.07 (n)
mouse
(Mus musculus)
Mammalia Tespa1 33 16 34
  • 79.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TESPA1 34
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TESPA1 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tespa1 33
  • 55.56 (n)
zebrafish
(Danio rerio)
Actinopterygii tespa1 34
  • 25 (a)
OneToOne
Species where no ortholog for TESPA1 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TESPA1 Gene

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

Paralogs for TESPA1 Gene

Paralogs for TESPA1 Gene

genes like me logo Genes that share paralogs with TESPA1: view

Variants for TESPA1 Gene

Sequence variations from dbSNP and Humsavar for TESPA1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000017985 -- 54,971,411(-) C/A intron_variant
rs1000044645 -- 54,965,088(-) TTTTT/TTTT intron_variant
rs1000069885 -- 54,983,809(-) GG/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000239908 -- 54,970,781(-) A/C intron_variant
rs1000240711 -- 54,977,292(-) A/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TESPA1 Gene

Variant ID Type Subtype PubMed ID
esv3580277 CNV loss 25503493

Variation tolerance for TESPA1 Gene

Residual Variation Intolerance Score: 93.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.15; 93.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TESPA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TESPA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TESPA1 Gene

Disorders for TESPA1 Gene

Additional Disease Information for TESPA1

No disorders were found for TESPA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TESPA1 Gene

Publications for TESPA1 Gene

  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. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  2. Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux. (PMID: 23501103) Matsuzaki H … Shirasawa S (Biochemical and biophysical research communications 2013) 3 4 58
  3. Tespa1 is involved in late thymocyte development through the regulation of TCR-mediated signaling. (PMID: 22561606) Wang D … Lu L (Nature immunology 2012) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China. (PMID: 25736038) Yao Y … Sun H (Clinical rheumatology 2015) 3 58

Products for TESPA1 Gene

Sources for TESPA1 Gene

Content
Loading form....