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TIA1 Gene

protein-coding   GIFtS: 58
GCID: GC02M070437

TIA1 Cytotoxic Granule-Associated RNA Binding Protein

(Previous name: TIA1 cytotoxic granule-associated RNA-binding protein)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
TIA1 Cytotoxic Granule-Associated RNA Binding Protein1 2     TIA1 Cytotoxic Granule-Associated RNA-Binding Protein1
T-Cell-Restricted Intracellular Antigen-11 2 3     P40-TIA-1 (Containing P15-TIA-1)2
Nucleolysin TIA-1 Isoform P401 2     p40-TIA-13
TIA-12 3     RNA-Binding Protein TIA-13
WDM2 5     

External Ids:    HGNC: 118021   Entrez Gene: 70722   Ensembl: ENSG000001160017   OMIM: 6035185   UniProtKB: P314833   

Export aliases for TIA1 gene to outside databases

Previous GC identifers: GC02M070448 GC02M070649 GC02M070396 GC02M070413 GC02M070350 GC02M070292 GC02M070173


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TIA1 Gene:
The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity
against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the
induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL
targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl
terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms of
this gene product has been described in the literature. (provided by RefSeq, Jul 2008)

GeneCards Summary for TIA1 Gene:
TIA1 (TIA1 cytotoxic granule-associated RNA binding protein) is a protein-coding gene. Diseases associated with TIA1 include panniculitis, and viral esophagitis. GO annotations related to this gene include poly(A) binding and nucleotide binding. An important paralog of this gene is RBM42.

UniProtKB/Swiss-Prot: TIA1_HUMAN, P31483
Function: Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich
elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against
cytotoxic lymphocyte target cells. May be involved in apoptosis




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TIA1 gene promoter:
         Sox5   Pax-5   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   HEN1   FOXJ2 (long isoform)   POU2F1a   FOXJ2   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TIA1 promoter sequence
   Search Chromatin IP Primers for TIA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TIA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p13

TIA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TIA1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M070437:  view genomic region     (about GC identifiers)

Start:
70,436,576 bp from pter      End:
70,475,792 bp from pter
Size:
39,217 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TIA1_HUMAN, P31483 (See protein sequence)
Recommended Name: Nucleolysin TIA-1 isoform p40  
Size: 386 amino acids; 42963 Da
1 PDB 3D structure from and Proteopedia for TIA1:
3BS9 (3D)    
Secondary accessions: Q53SS9
Alternative splicing: 2 isoforms:  P31483-1   P31483-2   

Explore the universe of human proteins at neXtProt for TIA1: NX_P31483

Explore proteomics data for TIA1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TIA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_071320.2  NP_071505.2  

    ENSEMBL proteins: 
     ENSP00000401371   ENSP00000404023   ENSP00000282574   ENSP00000399567   ENSP00000402263  
     ENSP00000413751   ENSP00000430969   ENSP00000427794   ENSP00000354838  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    2 InterPro protein domains:
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry P31483

    ProtoNet protein and cluster: P31483

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: TIA1_HUMAN, P31483
    Similarity: Contains 3 RRM (RNA recognition motif) domains


    TIA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TIA1_HUMAN, P31483
    Function: Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich
    elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against
    cytotoxic lymphocyte target cells. May be involved in apoptosis

         Genatlas biochemistry entry for TIA1:
    cytotoxic granule associated RNA binding protein,p40-TIA1,40 kDa,expressed only in cytotoxic lymphocytes
    (CTL),precursor of 15 kDa (p15-TIA-1),major granule associated species

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0005515protein binding IPI12486009
    GO:0008143poly(A) binding TAS1934064
    GO:0017091AU-rich element binding IEA--
         
    TIA1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tia1):
     growth/size/body  hematopoietic system  immune system  mortality/aging  skeleton 

    TIA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tia1tm1Andp for TIA1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TIA1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TIA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TIA1

    miRNA
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    miRTarBase miRNAs that target TIA1:
    hsa-mir-16-5p (MIRT000909), hsa-mir-331-3p (MIRT043294), hsa-mir-26b-5p (MIRT029253), hsa-mir-1229-3p (MIRT036261), hsa-mir-15a-5p (MIRT000910), hsa-mir-33a-5p (MIRT028191)

    Block miRNA regulation of human, mouse, rat TIA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TIA1 (see all 126):
    hsa-miR-199a-3p hsa-miR-128 hsa-miR-30d hsa-miR-342-3p hsa-miR-1304 hsa-miR-3161 hsa-miR-30a hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidTIA1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TIA1

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    GenScript: all cDNA clones in your preferred vector (see all 2): TIA1 (NM_022173)
    Sino Biological Human cDNA Clone for TIA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIA1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TIA1_HUMAN, P31483: Cytoplasmic granule. Nucleus. Note=Accumulates in cytoplasmic stress granules (SG) following
    cellular damage
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    lysosome2
    vacuole2
    cytosol1
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0010494cytoplasmic stress granule IDA--
    GO:0097165nuclear stress granule IDA--

    TIA1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TIA1 About    
    See pathways by source

    SuperPathContained pathways About
    1IL-10 Pathway
    IL-10 Pathway

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TIA1
        IL-10 Pathway



        Pathway & Disease-focused RT2 Profiler PCR Array including TIA1: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TIA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TIA1 (P314832, 3 ENSP000004013714) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HABP4Q5JVS02, 3, ENSP000003643984MINT-8194441 I2D: score=1 STRING: ENSP00000364398
    DCP1AQ9NPI62, 3MINT-7711192 I2D: score=1 
    RC3H2Q9HBD12, 3, ENSP000003497834MINT-7711447 MINT-7711460 I2D: score=1 STRING: ENSP00000349783
    SND1Q7KZF42, 3, ENSP000003467624MINT-7968800 I2D: score=1 STRING: ENSP00000346762
    ELAVL1Q157173, ENSP000003852694I2D: score=2 STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0017148negative regulation of translation IEA--
    GO:0042036negative regulation of cytokine biosynthetic process IEA--
    GO:0048024regulation of mRNA splicing, via spliceosome IDA11106748

    TIA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TIA1

    9 Novoseek inferred chemical compound relationships for TIA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    [alcl] 65.5 10 10029454 (4), 10396241 (2)
    paraffin 47.9 10 10414505 (2), 11756181 (1), 15660281 (1), 12475440 (1) (see all 9)
    arsenite 43.7 3 17626845 (1), 16982678 (1)
    serine 20.3 6 8176212 (1), 17135269 (1), 8104216 (1), 7544399 (1) (see all 5)
    threonine 14.2 2 17135269 (1), 7544399 (1)
    prednisolone 4.54 1 12956685 (1)
    atp 0 5 16890199 (1), 17466948 (1)
    adenylate 0 2 11121440 (1), 8759725 (1)
    adenine 0 2 17599736 (1), 16581801 (1)



    TIA1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TIA1 gene (2 alternative transcripts): 
    NM_022037.2  NM_022173.2  

    Unigene Cluster for TIA1:

    TIA1 cytotoxic granule-associated RNA binding protein
    Hs.413123  [show with all ESTs]
    Unigene Representative Sequence: AB209211
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000433529(uc002sgj.4 uc002sgl.4) ENST00000415783(uc002sgk.4)
    ENST00000282574 ENST00000445587 ENST00000486392 ENST00000495774 ENST00000454815
    ENST00000468787 ENST00000482876 ENST00000497672 ENST00000477415 ENST00000496096
    ENST00000484065 ENST00000416149 ENST00000474699 ENST00000474809(uc002sgm.3)
    ENST00000477044 ENST00000361692
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TIA1 (see all 126):
    hsa-miR-199a-3p hsa-miR-128 hsa-miR-30d hsa-miR-342-3p hsa-miR-1304 hsa-miR-3161 hsa-miR-30a hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidTIA1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TIA1
      QuantiFast Probe-based Assays in human, mouse, rat TIA1

    Additional mRNA sequence: 

    AB209211.1 AF090093.1 AK093744.1 AK303345.1 BC015944.1 M77142.1 

    Selected DOTS entries (see all 28):

    DT.95122173  DT.95082382  DT.100791104  DT.87077948  DT.92439302  DT.100791110  DT.444289  DT.40110131 
    DT.206004  DT.100738048  DT.100791105  DT.120959510  DT.86845350  DT.100791111  DT.100852947  DT.91950566 
    DT.95361454  DT.100674885  DT.100791107  DT.120959464  DT.120959530  DT.120959559  DT.40107771  DT.91966244 

    Selected AceView cDNA sequences (see all 364):

    CA429517 AA779686 AA485194 AW859765 AI921133 AI469493 BX477906 AI859593 
    AI859598 AI306583 AA479542 AU131849 D60230 AL538275 CA844146 F04979 
    F08710 AI218206 CA844296 BG111685 AA091638 H90716 AA738021 CA391318 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TIA1 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12a ·
    SP1:                                                              -           -           -     -                             -                                 
    SP2:                                                              -     -     -           -     -                       -     -                                 
    SP3:                                                              -           -           -     -                       -     -                                 
    SP4:                                                              -           -           -     -                       -     -                                 
    SP5:                                                              -           -           -     -                                                               

    ExUns: 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c
    SP1:        -                                 
    SP2:        -                                 
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for TIA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TIA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAAATCAA
    TIA1 Expression
    About this image


    TIA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Ovary (Reproductive System)
    TIA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TIA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.413123
        Pathway & Disease-focused RT2 Profiler PCR Array including TIA1: 
              Apoptosis 384HT in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat TIA1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TIA1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tia11 , 5 cytotoxic granule-associated RNA binding protein 11, 5 91.97(n)1
    96.63(a)1
      6 (37.69 cM)5
    218411  NM_011585.41  NP_035715.11 
     864042195 
    chicken
    (Gallus gallus)
    Aves TIA16
    Gallus gallus TIA1 cytotoxic granule-associated RN...
    96(a)
    1 ↔ 1
    22(2974564-2986156) ENSGALG00000013879
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BC064164.12   -- 80.28(n)    BC064164.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.45762 Danio rerio mRNA similar to TIA1 cytotoxic granule-associated more 77.02(n)    BC045368.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG47873 RNA binding 61(a)   98C2   --
    worm
    (Caenorhabditis elegans)
    Secernentea C18A3.5a3 RNA binding protein 51(a)
    (best of 4)
      II(5712808-5714773)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PUB11 PUB1 47.71(n)
    38.41(a)
      855716   NP_014382.1 


    ENSEMBL Gene Tree for TIA1 (if available)
    TreeFam Gene Tree for TIA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TIA1 gene
    RBM422  TIAL12  
    7 SIMAP similar genes for TIA1 using alignment to 9 protein entries:     TIA1_HUMAN (see all proteins):
    TIAL1    SF3B4    RBMY1A1    ELAVL2    ELAVL1    PABPC3
    PABPC1

    TIA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TIA1 (see all 918)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0698974
    Welander distal myopathy (WDM)4--see VAR_0698972 E K mis40--------
    rs118911791,2
    C,H--70172899(+) tttttA/Taaaaa 2 -- ds50011Minor allele frequency- T:0.00NA 2
    rs1155617201,2
    F--70303158(+) TTATAC/TACGAA 2 -- ds50011Minor allele frequency- T:0.02WA 118
    rs3744637031,2
    C--70303204(+) TTTTT-/A/TAAAAA 2 -- ds50011NA 2
    rs1999805051,2
    --70303205(+) TTTTT-/AAAAAG 2 -- ds50010--------
    rs1906004641,2
    --70303217(+) CTGGTC/TGTGGT 2 -- ds50010--------
    rs1117707481,2
    C,F--70303294(+) CAAGAC/TCAGCC 2 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1130376841,2
    F--70303329(+) TGTACT/CGAAAA 2 -- ds50012Minor allele frequency- C:0.03CSA WA 120
    rs1835664071,2
    --70303465(+) CCAGCA/GTGGGG 2 -- ds50010--------
    rs1879103481,2
    --70303564(+) ACATAC/TGAATA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for TIA1 (70436576 - 70475792 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TIA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518294CNV Loss19592680

    Human Gene Mutation Database (HGMD): TIA1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TIA1
    DNA2.0 Custom Variant and Variant Library Synthesis for TIA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603518   
    OMIM disorders: 604454  
    UniProtKB/Swiss-Prot: TIA1_HUMAN, P31483
  • Welander distal myopathy (WDM) [MIM:604454]: An autosomal dominant disorder characterized by adult onset
    of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression
    to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and
    prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle
    involvement. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for TIA1 (see all 55):    
    About MalaCards
    panniculitis    viral esophagitis    welander distal myopathy, swedish type    composite lymphoma
    enteropathy-associated t-cell lymphoma    lymphomatoid papulosis    reticulosarcoma    peripheral t-cell lymphoma
    nodular lymphocyte predominant hodgkin lymphoma    angioimmunoblastic t-cell lymphoma    lichen sclerosus    natural killer cell leukemia
    achalasia    mycosis fungoides    hairy cell leukemia    hemophagocytic lymphohistiocytosis
    adenoid cystic carcinoma    motor neuron disease    anaplastic large cell lymphoma    adenoiditis

    3 diseases from the University of Copenhagen DISEASES database for TIA1:
    Lymphoma     Panniculitis     Reticulosarcoma

    TIA1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for TIA1 gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma t-cell 83.9 10 12405910 (2), 11315625 (2), 19452707 (1), 9209634 (1) (see all 7)
    lymphoma t-cell peripheral 81.5 3 8655683 (1), 10414505 (1), 16160469 (1)
    lymphoma 69.6 37 9496260 (3), 11315625 (3), 14616965 (2), 10368677 (2) (see all 23)
    lymphomatoid papulosis 61.2 2 10672058 (1), 10233858 (1)
    lymphoid neoplasm 60 1 9176382 (1)
    lymphoma large cell 59.2 1 15073603 (1)
    panniculitis 55.6 2 12956685 (1)
    lymphoproliferative disorders 50.2 1 10892713 (1)
    hodgkin disease 50.1 3 9176382 (2), 20065852 (1)
    subcutaneous nodule 47.3 1 12956685 (1)


    Export disorders for TIA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TIA1 gene, integrated from 10 sources (see all 226):
    (articles sorted by number of sources associating them with TIA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Intron-exon organization and chromosomal localization of the human TIA-1 gene. (PubMed id 8176212)1, 2, 3, 9 Kawakami A....Anderson P. (J. Immunol. 1994)
    2. Structure of the central RNA recognition motif of human TIA-1 at 1.95A resolution. (PubMed id 18201561)1, 2, 9 Kumar A.O.... Kielkopf C.L. (Biochem. Biophys. Res. Commun. 2008)
    3. The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5' splice sites. (PubMed id 12486009)1, 3, 9 FAPrch P....ValcA!rcel J. (EMBO J. 2002)
    4. A polyadenylate binding protein localized to the granules of cytolytic lymphocytes induces DNA fragmentation in target cells. (PubMed id 1934064)1, 2, 9 Tian Q.... Anderson P. (Cell 1991)
    5. Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. (PubMed id 23348830)1, 2 Klar J....Dahl N. (Hum. Mutat. 2013)
    6. An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. (PubMed id 14966131)1, 9 Zuccato E....Pagani F. (J. Biol. Chem. 2004)
    7. Effects of infliximab therapy on gene expression levels of tumor necrosis factor alpha, tristetraprolin, T cell intracellular antigen 1, and Hu antigen R in patients with rheumatoid arthritis. (PubMed id 17599736)1, 9 Sugihara M....Sumida T. (Arthritis Rheum. 2007)
    8. Identification and functional outcome of mRNAs associated with RNA-binding protein TIA-1. (PubMed id 16227602)1, 9 LA^pez de Silanes I....Gorospe M. (Mol. Cell. Biol. 2005)
    9. Two isoforms of the T-cell intracellular antigen 1 (TIA-1) splicing factor display distinct splicing regulation activities. Control of TIA-1 isoform ratio by TIA-1-related protein. (PubMed id 17488725)1, 9 Izquierdo J.M. and ValcA!rcel J. (J. Biol. Chem. 2007)
    10. Regulation of cyclooxygenase-2 expression by the translational silencer TIA-1. (PubMed id 12885872)1, 9 Dixon D.A....Prescott S.M. (J. Exp. Med. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7072 HGNC: 11802 AceView: TIA1 Ensembl:ENSG00000116001 euGenes: HUgn7072
    ECgene: TIA1 H-InvDB: TIA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TIA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TIA1 gene:
    Search GeneIP for patents involving TIA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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