Human Gene TIA1 (ENST00000433529.7_10) from GENCODE V47lift37
  Description: TIA1 cytotoxic granule associated RNA binding protein, transcript variant 36 (from RefSeq NR_147231.2)
Gencode Transcript: ENST00000433529.7_10
Gencode Gene: ENSG00000116001.17_17
Transcript (Including UTRs)
   Position: hg19 chr2:70,436,576-70,475,760 Size: 39,185 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr2:70,439,851-70,475,562 Size: 35,712 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:70,436,576-70,475,760)mRNA (may differ from genome)Protein (386 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TIA1_HUMAN
DESCRIPTION: RecName: Full=Nucleolysin TIA-1 isoform p40; AltName: Full=RNA-binding protein TIA-1; AltName: Full=T-cell-restricted intracellular antigen-1; Short=TIA-1; AltName: Full=p40-TIA-1;
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.
SUBCELLULAR LOCATION: Cytoplasmic granule. Nucleus. Note=Accumulates in cytoplasmic stress granules (SG) following cellular damage.
SIMILARITY: Contains 3 RRM (RNA recognition motif) domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TIA1
Diseases sorted by gene-association score: welander distal myopathy* (1290), peripheral t-cell lymphoma (29), panniculitis (23), composite lymphoma (21), lymphocytic gastritis (16), natural killer cell leukemia (16), lymphomatoid papulosis (13), mycosis fungoides (12), cutaneous t cell lymphoma (11), orbit lymphoma (11), viral esophagitis (11), reticulosarcoma (11), lymphomatoid granulomatosis (10), subcutaneous panniculitis-like t-cell lymphoma (9), parasitic ichthyosporea infectious disease (9), rhinosporidiosis (9), hepatosplenic t-cell lymphoma (8), giardiasis (8), choriocarcinoma of the testis (7), infiltrating lipoma (7), lymphatic system cancer (7), primary cutaneous anaplastic large cell lymphoma (7), retinitis pigmentosa-40 (7), lethal midline granuloma (7), b-cell expansion with nfkb and t-cell anergy (6), necrotizing sialometaplasia (6), lymphoma (5), hodgkin lymphoma (4), frasier syndrome (4), myopathy (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.20 RPKM in Ovary
Total median expression: 1015.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -72.20198-0.365 Picture PostScript Text
3' UTR -774.403275-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3BS9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P31483
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008143 poly(A) binding
GO:0017091 AU-rich element binding

Biological Process:
GO:0006915 apoptotic process
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0017148 negative regulation of translation
GO:0042036 negative regulation of cytokine biosynthetic process
GO:0048024 regulation of mRNA splicing, via spliceosome
GO:1903608 protein localization to cytoplasmic stress granule
GO:1904037 positive regulation of epithelial cell apoptotic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0010494 cytoplasmic stress granule
GO:0097165 nuclear stress granule
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  LF384142 - JP 2014500723-A/191645: Polycomb-Associated Non-Coding RNAs.
AK093744 - Homo sapiens cDNA FLJ36425 fis, clone THYMU2011482.
AB209211 - Homo sapiens premature mRNA for TIA1 protein variant.
LF363705 - JP 2014500723-A/171208: Polycomb-Associated Non-Coding RNAs.
LF363704 - JP 2014500723-A/171207: Polycomb-Associated Non-Coding RNAs.
LF363703 - JP 2014500723-A/171206: Polycomb-Associated Non-Coding RNAs.
LF363702 - JP 2014500723-A/171205: Polycomb-Associated Non-Coding RNAs.
M77142 - Human polyadenylate binding protein (TIA-1) mRNA, complete cds.
JD281103 - Sequence 262127 from Patent EP1572962.
JD112646 - Sequence 93670 from Patent EP1572962.
JD283675 - Sequence 264699 from Patent EP1572962.
JD250601 - Sequence 231625 from Patent EP1572962.
JD225861 - Sequence 206885 from Patent EP1572962.
JD272769 - Sequence 253793 from Patent EP1572962.
LF363701 - JP 2014500723-A/171204: Polycomb-Associated Non-Coding RNAs.
JD063197 - Sequence 44221 from Patent EP1572962.
LF363700 - JP 2014500723-A/171203: Polycomb-Associated Non-Coding RNAs.
AB528896 - Synthetic construct DNA, clone: pF1KE0654, Homo sapiens TIA1 gene for TIA1 cytotoxic granule-associated RNA binding protein, without stop codon, in Flexi system.
BC015944 - Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein, mRNA (cDNA clone MGC:9449 IMAGE:3909177), complete cds.
CU677529 - Synthetic construct Homo sapiens gateway clone IMAGE:100016782 5' read TIA1 mRNA.
KJ904575 - Synthetic construct Homo sapiens clone ccsbBroadEn_13969 TIA1 gene, encodes complete protein.
LF363693 - JP 2014500723-A/171196: Polycomb-Associated Non-Coding RNAs.
AK303345 - Homo sapiens cDNA FLJ61511 complete cds, moderately similar to Nucleolysin TIA-1.
LF363691 - JP 2014500723-A/171194: Polycomb-Associated Non-Coding RNAs.
LF363684 - JP 2014500723-A/171187: Polycomb-Associated Non-Coding RNAs.
LF363683 - JP 2014500723-A/171186: Polycomb-Associated Non-Coding RNAs.
JD470998 - Sequence 452022 from Patent EP1572962.
JD080723 - Sequence 61747 from Patent EP1572962.
JD503713 - Sequence 484737 from Patent EP1572962.
LF363682 - JP 2014500723-A/171185: Polycomb-Associated Non-Coding RNAs.
JD544690 - Sequence 525714 from Patent EP1572962.
MA619719 - JP 2018138019-A/191645: Polycomb-Associated Non-Coding RNAs.
MA599282 - JP 2018138019-A/171208: Polycomb-Associated Non-Coding RNAs.
MA599281 - JP 2018138019-A/171207: Polycomb-Associated Non-Coding RNAs.
MA599280 - JP 2018138019-A/171206: Polycomb-Associated Non-Coding RNAs.
MA599279 - JP 2018138019-A/171205: Polycomb-Associated Non-Coding RNAs.
MA599278 - JP 2018138019-A/171204: Polycomb-Associated Non-Coding RNAs.
MA599277 - JP 2018138019-A/171203: Polycomb-Associated Non-Coding RNAs.
MA599270 - JP 2018138019-A/171196: Polycomb-Associated Non-Coding RNAs.
MA599268 - JP 2018138019-A/171194: Polycomb-Associated Non-Coding RNAs.
MA599261 - JP 2018138019-A/171187: Polycomb-Associated Non-Coding RNAs.
MA599260 - JP 2018138019-A/171186: Polycomb-Associated Non-Coding RNAs.
MA599259 - JP 2018138019-A/171185: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P31483 (Reactome details) participates in the following event(s):

R-HSA-6803527 ESRP1 and 2 bind FGFR2 pre-mRNA to promote FGFR2b maturation and expression
R-HSA-6803529 FGFR2 alternative splicing
R-HSA-5654738 Signaling by FGFR2
R-HSA-190236 Signaling by FGFR
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000433529.1, ENST00000433529.2, ENST00000433529.3, ENST00000433529.4, ENST00000433529.5, ENST00000433529.6, NR_147231, P31483, Q53SS9, Q96B58, TIA1_HUMAN, uc320cci.1, uc320cci.2
UCSC ID: ENST00000433529.7_10
RefSeq Accession: NM_022173.4
Protein: P31483 (aka TIA1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.