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    THEMIS thymocyte selection associated [ Homo sapiens (human) ]

    Gene ID: 387357, updated on 3-Dec-2024

    Summary

    Official Symbol
    THEMISprovided by HGNC
    Official Full Name
    thymocyte selection associatedprovided by HGNC
    Primary source
    HGNC:HGNC:21569
    See related
    Ensembl:ENSG00000172673 MIM:613607; AllianceGenome:HGNC:21569
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GASP; SPOT; TSEPA; THEMIS1; C6orf190; C6orf207
    Summary
    This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
    Expression
    Biased expression in lymph node (RPKM 2.2), appendix (RPKM 1.1) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See THEMIS in Genome Data Viewer
    Location:
    6q22.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (127696628..127918595, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (128897128..129107550, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (128029339..128239740, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901400 Neighboring gene long intergenic non-protein coding RNA 2536 Neighboring gene MPRA-validated peak6119 silencer Neighboring gene mitochondrial ribosomal protein S17 pseudogene 5 Neighboring gene NANOG hESC enhancer GRCh37_chr6:128343084-128343585 Neighboring gene protein tyrosine phosphatase receptor type K Neighboring gene PTPRK antisense RNA 1 Neighboring gene uncharacterized LOC124900216 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:128446823-128447021

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ40584, MGC163388

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in T cell receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative T cell selection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive T cell selection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of COP9 signalosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell-cell junction 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
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    protein THEMIS
    Names
    GRB2-associated protein
    signaling phosphoprotein specific for T cells
    thymocyte selection pathway associated
    thymocyte-expressed molecule involved in selection

    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.

    Genomic

    1. NG_016226.2 RefSeqGene

      Range
      22537..215395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001010923.3NP_001010923.1  protein THEMIS isoform 2

      See identical proteins and their annotated locations for NP_001010923.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AL035470, AL356432, AL365224
      Consensus CDS
      CCDS34534.1
      UniProtKB/Swiss-Prot
      A1L4F0, A8K7N1, B3KT31, B3KW32, B3KY07, F5H1J9, Q5T3C4, Q5T3C5, Q6MZT7, Q8N1K5
      UniProtKB/TrEMBL
      A0A0D9SFD2
      Related
      ENSP00000357231.2, ENST00000368248.5
      Conserved Domains (1) summary
      pfam12736
      Location:17265
      CABIT; Cell-cycle sustaining, positive selection,
    2. NM_001164685.2NP_001158157.1  protein THEMIS isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL035470, AL356432, AL365224
      Consensus CDS
      CCDS55056.1
      UniProtKB/TrEMBL
      A0A0D9SFD2
      Related
      ENSP00000487358.1, ENST00000630369.2
      Conserved Domains (2) summary
      pfam12736
      Location:17265
      CABIT; Cell-cycle sustaining, positive selection,
      pfam13900
      Location:586608
      GVQW; Putative domain of unknown function
    3. NM_001164687.2NP_001158159.1  protein THEMIS isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream translational start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK124031, BC043608, BC130516, DA818250
      Consensus CDS
      CCDS55055.1
      UniProtKB/TrEMBL
      A0A0D9SFD2
      Related
      ENSP00000439863.1, ENST00000537166.5
      Conserved Domains (1) summary
      pfam12736
      Location:3230
      CABIT; Cell-cycle sustaining, positive selection,
    4. NM_001318531.1NP_001305460.1  protein THEMIS isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains multiple differences in the 5' region, initiates translation at a downstream start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1.. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AK128377, AL365224, BC043608, BC130516, BG461112
      UniProtKB/TrEMBL
      A0A0D9SFD2
      Conserved Domains (1) summary
      pfam12736
      Location:184432
      CABIT; Cell-cycle sustaining, positive selection,
    5. NM_001394520.1NP_001381449.1  protein THEMIS isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL035470, AL356432, AL365224
      UniProtKB/TrEMBL
      A0A0D9SFD2
      Conserved Domains (1) summary
      pfam12736
      Location:3239
      CABIT; Cell-cycle sustaining, positive selection,
    6. NM_001394521.1NP_001381450.1  protein THEMIS isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL035470, AL356432, AL365224
      Conserved Domains (1) summary
      pfam12736
      Location:128376
      CABIT; Cell-cycle sustaining, positive selection,
    7. NM_001394522.1NP_001381451.1  protein THEMIS isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL035470, AL356432, AL365224
      UniProtKB/TrEMBL
      A0A0D9SFD2
      Conserved Domains (1) summary
      pfam12736
      Location:184432
      CABIT; Cell-cycle sustaining, positive selection,

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      127696628..127918595 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418766.1XP_047274722.1  protein THEMIS isoform X4

      UniProtKB/Swiss-Prot
      A1L4F0, A8K7N1, B3KT31, B3KW32, B3KY07, F5H1J9, Q5T3C4, Q5T3C5, Q6MZT7, Q8N1K5
      UniProtKB/TrEMBL
      A0A0D9SFD2
    2. XM_047418764.1XP_047274720.1  protein THEMIS isoform X2

      UniProtKB/TrEMBL
      A0A0D9SFD2
    3. XM_047418767.1XP_047274723.1  protein THEMIS isoform X5

      UniProtKB/TrEMBL
      A0A0D9SFD2
    4. XM_047418765.1XP_047274721.1  protein THEMIS isoform X3

    5. XM_047418763.1XP_047274719.1  protein THEMIS isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187556.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      53392..263793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328693.1XP_054184668.1  protein THEMIS isoform X4

      UniProtKB/Swiss-Prot
      A1L4F0, A8K7N1, B3KT31, B3KW32, B3KY07, F5H1J9, Q5T3C4, Q5T3C5, Q6MZT7, Q8N1K5
      UniProtKB/TrEMBL
      A0A0D9SFD2
    2. XM_054328691.1XP_054184666.1  protein THEMIS isoform X2

      UniProtKB/TrEMBL
      A0A0D9SFD2
    3. XM_054328694.1XP_054184669.1  protein THEMIS isoform X5

      UniProtKB/TrEMBL
      A0A0D9SFD2
    4. XM_054328692.1XP_054184667.1  protein THEMIS isoform X3

    5. XM_054328690.1XP_054184665.1  protein THEMIS isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      128897128..129107550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355409.1XP_054211384.1  protein THEMIS isoform X4

      UniProtKB/TrEMBL
      A0A0D9SFD2
    2. XM_054355407.1XP_054211382.1  protein THEMIS isoform X2

      UniProtKB/TrEMBL
      A0A0D9SFD2
    3. XM_054355410.1XP_054211385.1  protein THEMIS isoform X8

      UniProtKB/TrEMBL
      A0A0D9SFD2
    4. XM_054355408.1XP_054211383.1  protein THEMIS isoform X7

    5. XM_054355406.1XP_054211381.1  protein THEMIS isoform X6