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    TBATA thymus, brain and testes associated [ Homo sapiens (human) ]

    Gene ID: 219793, updated on 25-May-2017
    Official Symbol
    TBATAprovided by HGNC
    Official Full Name
    thymus, brain and testes associatedprovided by HGNC
    Primary source
    HGNC:HGNC:23511
    See related
    Ensembl:ENSG00000166220 MIM:612640; Vega:OTTHUMG00000018413
    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
    SPATIAL; C10orf27
    Summary
    This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Orthologs
    Location:
    10q22.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (70771237..70785419, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72530995..72545157, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene perforin 1 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 14 Neighboring gene ribosomal protein S26 pseudogene 40 Neighboring gene sphingosine-1-phosphate lyase 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Homology

    Clone Names

    • FLJ32820

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    protein TBATA
    Names
    stromal protein associated with thymii and lymph node homolog
    thymus, brain and testes-associated protein

    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_001318241.1NP_001305170.1  protein TBATA isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC144694, DB512647, DC398035, HY289269
      Consensus CDS
      CCDS81471.1
      UniProtKB/TrEMBL
      A0A0A0MSR7, B7ZMN5
      Related
      ENSP00000400224.3, ENST00000456372.3
      Conserved Domains (1) summary
      pfam15256
      Location:77271
      SPATIAL; SPATIAL
    2. NM_001318242.1NP_001305171.1  protein TBATA isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      BC137543, DB512647, DC398035, HY289269
      Consensus CDS
      CCDS7308.1
      UniProtKB/Swiss-Prot
      Q96M53
      Conserved Domains (1) summary
      pfam15256
      Location:77270
      SPATIAL; SPATIAL
    3. NM_001318243.1NP_001305172.1  protein TBATA isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate in-frame splice sites in the central coding region, compared to variant 1, resulting in an isoform (c) that is 2 aa shorter than isoform a.
      Source sequence(s)
      BC144692, DB512647, DC398035, HY289269
      UniProtKB/TrEMBL
      B7ZMN4
      Conserved Domains (1) summary
      pfam15256
      Location:77269
      SPATIAL; SPATIAL
    4. NM_152710.3NP_689923.3  protein TBATA isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      BC137544, DB512647, DC398035, HY289269
      Consensus CDS
      CCDS7308.1
      UniProtKB/Swiss-Prot
      Q96M53
      Related
      ENSP00000299290.1, OTTHUMP00000019760, ENST00000299290.5, OTTHUMT00000048519
      Conserved Domains (1) summary
      pfam15256
      Location:77270
      SPATIAL; SPATIAL

    RNA

    1. NR_134531.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC139728, DC398035, HY289269
    2. NR_134532.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks three 5' exons but contains an alternate 5' terminal exon, uses two alternate splice sites, and includes two additional internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, which results in an ORF that is in-frame with the coding sequence of variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK303344, AK310732, BC137544, DB512647, DC406786, HY259649, HY289269
    3. NR_134533.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks three 5' exons but contains an alternate 5' terminal exon, uses two alternate splice sites, and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, which results in an ORF that is in-frame with the coding sequence of variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK310732, BC137544, DB512647, DC406786, HY289269
    4. NR_134534.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks three 5' exons but contains an alternate 5' terminal exon, uses an alternate splice site, and lacks three internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, which results in an ORF that is in-frame with the coding sequence of variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC137544, DB147724, DC406786, HY289269

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      70771237..70785419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015845.1XP_016871334.1  protein TBATA isoform X1

    2. XM_017015860.1XP_016871349.1  protein TBATA isoform X15

    3. XM_017015852.1XP_016871341.1  protein TBATA isoform X8

    4. XM_017015848.1XP_016871337.1  protein TBATA isoform X4

    5. XM_017015846.1XP_016871335.1  protein TBATA isoform X2

    6. XM_017015856.1XP_016871345.1  protein TBATA isoform X12

    7. XM_017015853.1XP_016871342.1  protein TBATA isoform X9

    8. XM_017015847.1XP_016871336.1  protein TBATA isoform X3

    9. XM_017015849.1XP_016871338.1  protein TBATA isoform X5

    10. XM_017015858.1XP_016871347.1  protein TBATA isoform X14

    11. XM_017015855.1XP_016871344.1  protein TBATA isoform X11

    12. XM_017015854.1XP_016871343.1  protein TBATA isoform X10

    13. XM_017015857.1XP_016871346.1  protein TBATA isoform X13

    14. XM_017015859.1XP_016871348.1  protein TBATA isoform X14

    15. XM_017015861.1XP_016871350.1  protein TBATA isoform X16

    16. XM_017015851.1XP_016871340.1  protein TBATA isoform X7

    17. XM_017015862.1XP_016871351.1  protein TBATA isoform X17

    18. XM_017015850.1XP_016871339.1  protein TBATA isoform X6

    RNA

    1. XR_001747056.1 RNA Sequence

    2. XR_001747057.1 RNA Sequence

    3. XR_001747054.1 RNA Sequence

    4. XR_001747055.1 RNA Sequence

    5. XR_001747058.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      72813785..72827968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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