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

    Gene ID: 9840, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See TESPA1 in Genome Data Viewer
    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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001098815.3NP_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:128286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    2. NM_001136030.3NP_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:128286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    3. NM_001261844.1NP_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:2148
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    4. NM_001351148.1NP_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:2148
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    5. NM_001351149.2NP_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:128286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    6. NM_001351150.1NP_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:177
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    7. NM_001351151.1NP_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_001351152.1NP_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_001351153.1NP_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_001351154.1NP_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_001351155.1NP_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_014796.2NP_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:2148
      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_047429930.1XP_047285886.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
    2. XM_047429929.1XP_047285885.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
    3. XM_017020263.2XP_016875752.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
      Conserved Domains (1) summary
      pfam14722
      Location:128286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    4. XM_006719715.4XP_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:128286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    5. XM_011539035.3XP_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:128286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    6. XM_047429931.1XP_047285887.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
    7. XM_017020262.2XP_016875751.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
      Conserved Domains (1) summary
      pfam14722
      Location:128286
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    8. XM_011539037.4XP_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:128286
      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_054373927.1XP_054229902.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
    2. XM_054373924.1XP_054229899.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
    3. XM_054373928.1XP_054229903.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
    4. XM_054373923.1XP_054229898.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
    5. XM_054373930.1XP_054229905.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
    6. XM_054373929.1XP_054229904.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
    7. XM_054373926.1XP_054229901.1  protein TESPA1 isoform X1

      UniProtKB/Swiss-Prot
      A2RU30, B4DPM3, B4E048, B7Z9K7, O94849, Q4G0P2, Q9P0C4
    8. XM_054373925.1XP_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