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THEMIS thymocyte selection associated [ Homo sapiens (human) ]

Gene ID: 387357, updated on 20-Aug-2021

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
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]
Expression
Biased expression in lymph node (RPKM 2.2), appendix (RPKM 1.1) and 12 other tissues See more
Orthologs
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Genomic context

See THEMIS in Genome Data Viewer
Location:
6q22.33
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (127708194..127918595, complement)
105.20201022 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 LOC112267973 Neighboring gene long intergenic non-protein coding RNA 2536 Neighboring gene mitochondrial ribosomal protein S17 pseudogene 5 Neighboring gene protein tyrosine phosphatase receptor type K Neighboring gene PTPRK antisense RNA 1 Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 5

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

Associated conditions

Description Tests
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
GeneReviews: Not available
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available
Multiple common variants for celiac disease influencing immune gene expression.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
PubMed 
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
PubMed 
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)

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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_001010923.3NP_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
    Q8N1K5
    Related
    ENSP00000357231.2, ENST00000368248.4
    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/Swiss-Prot
    Q8N1K5
    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/Swiss-Prot
    Q8N1K5
    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/Swiss-Prot
    Q8N1K5
    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
    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
    Conserved Domains (1) summary
    pfam12736
    Location:184432
    CABIT; Cell-cycle sustaining, positive selection,

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    127708194..127918595 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010849.1XP_016866338.1  protein THEMIS isoform X5

    Conserved Domains (1) summary
    pfam12736
    Location:128376
    CABIT; Cell-cycle sustaining, positive selection,
  2. XM_024446433.1XP_024302201.1  protein THEMIS isoform X1

    Conserved Domains (1) summary
    pfam12736
    Location:290539
    CABIT; Cell-cycle sustaining, positive selection,
  3. XM_011535816.1XP_011534118.1  protein THEMIS isoform X4

    See identical proteins and their annotated locations for XP_011534118.1

    UniProtKB/Swiss-Prot
    Q8N1K5
    Conserved Domains (1) summary
    pfam12736
    Location:184432
    CABIT; Cell-cycle sustaining, positive selection,
  4. XM_024446434.1XP_024302202.1  protein THEMIS isoform X4

    Conserved Domains (1) summary
    pfam12736
    Location:184432
    CABIT; Cell-cycle sustaining, positive selection,
  5. XM_017010848.1XP_016866337.1  protein THEMIS isoform X3

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187556.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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