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    TESPA1 thymocyte expressed, positive selection associated 1 [ Homo sapiens (human) ]

    Gene ID: 9840, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TESPA1provided by HGNC
    Official Full Name
    thymocyte expressed, positive selection associated 1provided by HGNC
    Primary source
    HGNC:HGNC:29109
    See related
    Ensembl:ENSG00000135426 MIM:615664; AllianceGenome:HGNC:29109
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSPC257; ITPRID3; KIAA0748
    Summary
    Predicted to enable phospholipase binding activity. Predicted to be involved in several processes, including COP9 signalosome assembly; positive regulation of T cell differentiation in thymus; and positive regulation of T cell receptor signaling pathway. Predicted to act upstream of or within TCR signalosome assembly. Part of COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lymph node (RPKM 4.0), brain (RPKM 4.0) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q13.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (54948015..54985188, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (54914643..54951806, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (55341799..55378546, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29528 Neighboring gene mucin like 1 Neighboring gene small integral membrane protein 10-like protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:55311080-55311288 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:55328775-55329974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:55367789-55368300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:55368301-55368810 Neighboring gene uncharacterized LOC107984515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6449 Neighboring gene uncharacterized LOC101927484 Neighboring gene neuronal differentiation 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:55462103-55462653 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55480328-55480887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55480888-55481446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55494960-55495696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55495697-55496433 Neighboring gene olfactory receptor family 9 subfamily K member 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Alcohol use disorder is associated with DNA methylation-based shortening of telomere length and regulated by TESPA1: implications for aging. Jung J, et al. Mol Psychiatry, 2022 Sep. PMID 35705636, Free PMC Article
    2. Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China. Yao Y, et al. Clin Rheumatol, 2015 Apr. PMID 25736038
    3. Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population. Liu S, et al. Inflammation, 2014 Dec. PMID 24893580
    4. Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux. Matsuzaki H, et al. Biochem Biophys Res Commun, 2013 Apr 12. PMID 23501103
    5. Thymic-specific regulation of TCR signaling by Tespa1. Lyu J, et al. Cell Mol Immunol, 2019 Dec. PMID 31316154, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Alcohol use disorder is associated with DNA methylation-based shortening of telomere length and regulated by TESPA1: implications for aging.
      Title: Alcohol use disorder is associated with DNA methylation-based shortening of telomere length and regulated by TESPA1: implications for aging.
    2. Thymic-specific regulation of TCR signaling by Tespa1.
      Title: Thymic-specific regulation of TCR signaling by Tespa1.
    3. Tespa1 functions in T cell development and the regulation of TCR-induced Ca(2+) signalling through IP3R1
      Title: Tespa1 regulates T cell receptor-induced calcium signals by recruiting inositol 1,4,5-trisphosphate receptors.
    4. Tespa1 hay have a role in susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China
      Title: Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China.
    5. The TESPA1 gene was found to not be involved in ankylosing spondylitis in a Chinese population.
      Title: Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.
    6. Tespa1 is post-translationally modified upon intracellular divalent calcium-ion Ca2+ increase in thymocytes.
      Title: Tespa1 protein is phosphorylated in response to store-operated calcium entry.
    7. Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux.
      Title: Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0748

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in COP9 signalosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in TCR signalosome assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of T cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of T cell receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of TCR signalosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein TESPA1
    Names
    thymocyte-expressed positive selection-associated protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001098815.3 → NP_001092285.1  protein TESPA1 isoform 1

      See identical proteins and their annotated locations for NP_001092285.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variants 1 and 6, encodes the longest isoform (1).
      Source sequence(s)
      AC079842, BC132732
      Consensus CDS
      CCDS44913.1
      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
      Related
      ENSP00000312679.8, ENST00000316577.12
      Conserved Domains (1) summary
      pfam14722
      Location:128 → 286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    2. NM_001136030.3 → NP_001129502.1  protein TESPA1 isoform 1

      See identical proteins and their annotated locations for NP_001129502.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variants 2 and 6, encodes the longest isoform (1).
      Source sequence(s)
      AC079842, AK303223, AW967924
      Consensus CDS
      CCDS44913.1
      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
      Related
      ENSP00000400892.1, ENST00000449076.6
      Conserved Domains (1) summary
      pfam14722
      Location:128 → 286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    3. NM_001261844.1 → NP_001248773.1  protein TESPA1 isoform 2

      See identical proteins and their annotated locations for NP_001248773.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 3 and 5, encodes isoform 2.
      Source sequence(s)
      AB018291, AC079842, AK315972
      Consensus CDS
      CCDS58240.1
      Related
      ENSP00000433098.1, ENST00000531122.5
      Conserved Domains (1) summary
      pfam14722
      Location:2 → 148
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    4. NM_001351148.1 → NP_001338077.1  protein TESPA1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 3 and 4, encodes isoform 2.
      Source sequence(s)
      AC079842
      Consensus CDS
      CCDS58240.1
      Related
      ENSP00000432030.1, ENST00000532804.5
      Conserved Domains (1) summary
      pfam14722
      Location:2 → 148
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    5. NM_001351149.2 → NP_001338078.1  protein TESPA1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 1 and 2, encodes the longest isoform (1).
      Source sequence(s)
      AC079842
      Consensus CDS
      CCDS44913.1
      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
      Conserved Domains (1) summary
      pfam14722
      Location:128 → 286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    6. NM_001351150.1 → NP_001338079.1  protein TESPA1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) encodes isoform 3.
      Source sequence(s)
      AC079842
      Conserved Domains (1) summary
      pfam14722
      Location:1 → 77
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    7. NM_001351151.1 → NP_001338080.1  protein TESPA1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 9-12, encodes isoform 4.
      Source sequence(s)
      AC079842
      UniProtKB/TrEMBL
      B4DHC1

    8. NM_001351152.1 → NP_001338081.1  protein TESPA1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 8 and 10-12, encodes isoform 4.
      Source sequence(s)
      AC079842
      UniProtKB/TrEMBL
      B4DHC1

    9. NM_001351153.1 → NP_001338082.1  protein TESPA1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 8, 9, 11, and 12, encodes isoform 4.
      Source sequence(s)
      AC079842
      UniProtKB/TrEMBL
      B4DHC1

    10. NM_001351154.1 → NP_001338083.1  protein TESPA1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variants 8-10 and 12, encodes isoform 4.
      Source sequence(s)
      AC079842
      UniProtKB/TrEMBL
      B4DHC1

    11. NM_001351155.1 → NP_001338084.1  protein TESPA1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variants 8-11, encodes isoform 4.
      Source sequence(s)
      AC079842
      UniProtKB/TrEMBL
      B4DHC1

    12. NM_014796.2 → NP_055611.1  protein TESPA1 isoform 2

      See identical proteins and their annotated locations for NP_055611.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 4 and 5, encodes isoform 2.
      Source sequence(s)
      AB018291, AC079842
      Consensus CDS
      CCDS58240.1
      Related
      ENSP00000435622.1, ENST00000524622.5
      Conserved Domains (1) summary
      pfam14722
      Location:2 → 148
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    RNA

    1. NR_147062.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    2. NR_147063.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    3. NR_147064.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    4. NR_147065.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    5. NR_147066.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    6. NR_147067.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    7. NR_147068.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    8. NR_147069.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    9. NR_147070.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    10. NR_147071.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    11. NR_147072.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    12. NR_147073.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079842

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      54948015..54985188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429930.1 → XP_047285886.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    2. XM_047429929.1 → XP_047285885.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    3. XM_017020263.2 → XP_016875752.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
      Conserved Domains (1) summary
      pfam14722
      Location:128 → 286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    4. XM_006719715.4 → XP_006719778.1  protein TESPA1 isoform X1

      See identical proteins and their annotated locations for XP_006719778.1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
      Conserved Domains (1) summary
      pfam14722
      Location:128 → 286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    5. XM_011539035.3 → XP_011537337.1  protein TESPA1 isoform X1

      See identical proteins and their annotated locations for XP_011537337.1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
      Conserved Domains (1) summary
      pfam14722
      Location:128 → 286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    6. XM_047429931.1 → XP_047285887.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    7. XM_017020262.2 → XP_016875751.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
      Conserved Domains (1) summary
      pfam14722
      Location:128 → 286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    8. XM_011539037.4 → XP_011537339.1  protein TESPA1 isoform X1

      See identical proteins and their annotated locations for XP_011537339.1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
      Conserved Domains (1) summary
      pfam14722
      Location:128 → 286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain

    RNA

    1. XR_007063147.1 RNA Sequence

    2. XR_007063146.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      54914643..54951806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373927.1 → XP_054229902.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    2. XM_054373924.1 → XP_054229899.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    3. XM_054373928.1 → XP_054229903.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    4. XM_054373923.1 → XP_054229898.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    5. XM_054373930.1 → XP_054229905.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    6. XM_054373929.1 → XP_054229904.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    7. XM_054373926.1 → XP_054229901.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    8. XM_054373925.1 → XP_054229900.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4

    RNA

    1. XR_008488715.1 RNA Sequence

    2. XR_008488714.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2RU30.2 GenPept UniProtKB/Swiss-Prot:A2RU30

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