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    THEMIS thymocyte selection associated [ Homo sapiens (human) ]

    Gene ID: 387357, updated on 15-Jun-2016
    Official Symbol
    THEMISprovided by HGNC
    Official Full Name
    thymocyte selection associatedprovided by HGNC
    Primary source
    HGNC:HGNC:21569
    See related
    Ensembl:ENSG00000172673 HPRD:16662; MIM:613607; Vega:OTTHUMG00000015534
    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; 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]
    Orthologs
    Location:
    6q22.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (127697191..127918631, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (128029339..128239776, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene transducin (beta)-like 1 X-linked receptor 1 pseudogene Neighboring gene uncharacterized LOC105377997 Neighboring gene mitochondrial ribosomal protein S17 pseudogene 5 Neighboring gene uncharacterized LOC101928140 Neighboring gene protein tyrosine phosphatase, receptor type K Neighboring gene uncharacterized LOC107986527 Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 5

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Clone Names

    • FLJ40584, MGC163388

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    negative T cell selection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive T cell selection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    COP9 signalosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    protein THEMIS
    Names
    GRB2-associated protein
    signaling phosphoprotein specific for T cells
    thymocyte expressed molecule involved in selection
    thymocyte selection pathway associated
    thymocyte-expressed molecule involved in selection

    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_016226.1 RefSeqGene

      Range
      5001..215438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001010923.2NP_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)
      BC043608, BC130516, BG461112, BX956657
      Consensus CDS
      CCDS34534.1
      UniProtKB/Swiss-Prot
      Q8N1K5
      Related
      ENSP00000357231, ENST00000368248
      Conserved Domains (1) summary
      pfam12736
      Location:281534
      CABIT; Cell-cycle sustaining, positive selection,
    2. NM_001164685.1NP_001158157.1  protein THEMIS isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC043608, BC130516, BC144034, BG461112, BX956657
      Consensus CDS
      CCDS55056.1
      UniProtKB/Swiss-Prot
      Q8N1K5
      Related
      ENSP00000487358, OTTHUMP00000279381, ENST00000630369, OTTHUMT00000484448
      Conserved Domains (2) summary
      pfam12736
      Location:281534
      CABIT; Cell-cycle sustaining, positive selection,
      pfam13900
      Location:585608
      GVQW; Putative binding domain
    3. NM_001164687.1NP_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, BG461112, BX956657, DA818250
      Consensus CDS
      CCDS55055.1
      UniProtKB/Swiss-Prot
      Q8N1K5
      Related
      ENSP00000439863, ENST00000537166
      Conserved Domains (1) summary
      pfam12736
      Location:246499
      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/Swiss-Prot
      Q8N1K5
      Conserved Domains (1) summary
      pfam12736
      Location:184437
      CABIT; Cell-cycle sustaining, positive selection,

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      127697191..127918631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535813.2XP_011534115.1  

      See identical proteins and their annotated locations for XP_011534115.1

      Conserved Domains (1) summary
      pfam12736
      Location:290543
      CABIT; Cell-cycle sustaining, positive selection,
    2. XM_011535814.2XP_011534116.1  

      See identical proteins and their annotated locations for XP_011534116.1

      Conserved Domains (1) summary
      pfam12736
      Location:255508
      CABIT; Cell-cycle sustaining, positive selection,
    3. XM_017010849.1XP_016866338.1  

    4. XM_011535816.1XP_011534118.1  

      See identical proteins and their annotated locations for XP_011534118.1

      UniProtKB/Swiss-Prot
      Q8N1K5
      Conserved Domains (1) summary
      pfam12736
      Location:184437
      CABIT; Cell-cycle sustaining, positive selection,
    5. XM_017010848.1XP_016866337.1  

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187556.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      53392..263829 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      128293828..128504020 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)