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Aliases for TIA1 Gene

Aliases for TIA1 Gene

  • TIA1 Cytotoxic Granule Associated RNA Binding Protein 2 3 5
  • T-Cell-Restricted Intracellular Antigen-1 2 3 4
  • Nucleolysin TIA-1 Isoform P40 2 3
  • TIA-1 3 4
  • TIA1 Cytotoxic Granule-Associated RNA-Binding Protein 2
  • P40-TIA-1 (Containing P15-TIA-1) 3
  • RNA-Binding Protein TIA-1 4
  • Nucleolysin TIA-1 3
  • P40-TIA-1 4
  • WDM 3

External Ids for TIA1 Gene

Previous GeneCards Identifiers for TIA1 Gene

  • GC02M070448
  • GC02M070649
  • GC02M070396
  • GC02M070413
  • GC02M070350
  • GC02M070292
  • GC02M070437

Summaries for TIA1 Gene

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 has been found for this gene. [provided by RefSeq, May 2017]

GeneCards Summary for TIA1 Gene

TIA1 (TIA1 Cytotoxic Granule Associated RNA Binding Protein) is a Protein Coding gene. Diseases associated with TIA1 include Welander Distal Myopathy and Peripheral T-Cell Lymphoma. Among its related pathways are Translational Control and Apoptosis and Autophagy. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is TIAL1.

UniProtKB/Swiss-Prot for TIA1 Gene

  • 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.

Additional gene information for TIA1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIA1 Gene

Genomics for TIA1 Gene

GeneHancer (GH) Regulatory Elements for TIA1 Gene

Promoters and enhancers for TIA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J070246 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 669.9 +0.4 446 3.3 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 TIA1 C2orf42 TRG-CCC2-1 PCBP1-AS1 TEX261 GMCL1 CLEC4F ANKRD53 MPHOSPH10 CD207
GH02J070236 Promoter 0.5 EPDnew 650.4 +12.6 12614 0.1 TIA1 GC02M070219 C2orf42
GH02J070227 Promoter 0.5 EPDnew 650.3 +21.0 20954 0.1 TIA1 MXD1 SNRNP27 GC02M070219 C2orf42
GH02J070225 Promoter 0.5 EPDnew 650.3 +23.3 23277 0.1 TIA1 SNRNP27 MXD1 GC02M070219 C2orf42
GH02J070224 Promoter 0.5 EPDnew 650.3 +24.1 24103 0.1 TIA1 SNRNP27 MXD1 GC02M070219 C2orf42
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TIA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TIA1 gene promoter:
  • HEN1
  • FOXJ2 (long isoform)
  • FOXJ2
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)
  • POU3F2
  • LyF-1
  • Pax-5
  • Sox5
  • POU2F1a

Genomic Locations for TIA1 Gene

Genomic Locations for TIA1 Gene
39,264 bases
Minus strand
39,217 bases
Minus strand

Genomic View for TIA1 Gene

Genes around TIA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIA1 Gene

Proteins for TIA1 Gene

  • Protein details for TIA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Nucleolysin TIA-1 isoform p40
    Protein Accession:
    Secondary Accessions:
    • Q53SS9
    • Q96B58

    Protein attributes for TIA1 Gene

    386 amino acids
    Molecular mass:
    42963 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TIA1 Gene

    Alternative splice isoforms for TIA1 Gene


neXtProt entry for TIA1 Gene

Post-translational modifications for TIA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TIA1 Gene

Domains & Families for TIA1 Gene

Gene Families for TIA1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TIA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TIA1: view

No data available for UniProtKB/Swiss-Prot for TIA1 Gene

Function for TIA1 Gene

Molecular function for TIA1 Gene

UniProtKB/Swiss-Prot 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:
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

Phenotypes From GWAS Catalog for TIA1 Gene

Gene Ontology (GO) - Molecular Function for TIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IEA 22658674
GO:0005515 protein binding IPI 7544399
GO:0008143 poly(A) binding TAS 1934064
GO:0017091 AU-rich element binding IEA --
genes like me logo Genes that share ontologies with TIA1: view
genes like me logo Genes that share phenotypes with TIA1: view

Human Phenotype Ontology for TIA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TIA1 Gene

MGI Knock Outs for TIA1:
  • Tia1 Tia1<tm1Andp>

Animal Model Products

Clone Products

  • Addgene plasmids for TIA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TIA1 Gene

Localization for TIA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIA1 Gene

Cytoplasm, Stress granule. Nucleus. Note=Accumulates in cytoplasmic stress granules (SG) following cellular damage. {ECO:0000269 PubMed:15371533}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TIA1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 24965446
GO:0005829 cytosol IDA --
GO:0010494 colocalizes_with cytoplasmic stress granule IDA,ISS --
genes like me logo Genes that share ontologies with TIA1: view

Pathways & Interactions for TIA1 Gene

genes like me logo Genes that share pathways with TIA1: view

Pathways by source for TIA1 Gene

1 Qiagen pathway for TIA1 Gene
2 Cell Signaling Technology pathways for TIA1 Gene

Gene Ontology (GO) - Biological Process for TIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA,TAS --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0017148 negative regulation of translation IEA --
GO:0042036 negative regulation of cytokine biosynthetic process IEA --
GO:0048024 regulation of mRNA splicing, via spliceosome IDA 11106748
genes like me logo Genes that share ontologies with TIA1: view

No data available for SIGNOR curated interactions for TIA1 Gene

Drugs & Compounds for TIA1 Gene

(5) Drugs for TIA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for TIA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TIA1: view

Transcripts for TIA1 Gene

Unigene Clusters for TIA1 Gene

TIA1 cytotoxic granule-associated RNA binding protein:
Representative Sequences:

Clone Products

  • Addgene plasmids for TIA1

Alternative Splicing Database (ASD) splice patterns (SP) for TIA1 Gene

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: - - - -
SP6: - -
SP7: -
SP8: - -

ExUns: 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c
SP1: -
SP2: -
SP7: -

Relevant External Links for TIA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TIA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TIA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TIA1 Gene

This gene is overexpressed in Bone (29.5) and Peripheral blood mononuclear cells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TIA1 Gene

Protein tissue co-expression partners for TIA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TIA1 Gene:


SOURCE GeneReport for Unigene cluster for TIA1 Gene:


Evidence on tissue expression from TISSUES for TIA1 Gene

  • Blood(4.6)
  • Nervous system(3.8)
  • Lymph node(2.9)
  • Skin(2.9)
  • Intestine(2.7)
  • Bone marrow(2.6)
  • Spleen(2.6)
  • Lung(2.2)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TIA1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • head
  • kidney
  • arm
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TIA1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TIA1 Gene

Orthologs for TIA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TIA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TIA1 34 33
  • 99.83 (n)
(Monodelphis domestica)
Mammalia TIA1 34
  • 97 (a)
(Canis familiaris)
Mammalia TIA1 34 33
  • 95.94 (n)
(Bos Taurus)
Mammalia TIA1 34 33
  • 95.47 (n)
(Mus musculus)
Mammalia Tia1 16 34 33
  • 91.97 (n)
(Rattus norvegicus)
Mammalia Tia1 33
  • 91.29 (n)
(Ornithorhynchus anatinus)
Mammalia TIA1 34
  • 82 (a)
(Gallus gallus)
Aves TIA1 34
  • 96 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tia1 33
  • 79.74 (n)
(Danio rerio)
Actinopterygii tia1l 34
  • 80 (a)
tia1 34 33
  • 74.6 (n)
Dr.4576 33
fruit fly
(Drosophila melanogaster)
Insecta CG4787 35
  • 61 (a)
Rox8 34
  • 38 (a)
CG34354 34
  • 30 (a)
CG34362 34
  • 20 (a)
(Caenorhabditis elegans)
Secernentea C18A3.5a 35
  • 51 (a)
C18A3.5b 35
  • 46 (a)
C07A4.1 35
  • 44 (a)
Y46G5A.13 35
  • 43 (a)
tiar-1 34
  • 38 (a)
tiar-2 34
  • 33 (a)
tiar-3 34
  • 25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUB1 34 33
  • 47.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08779g 33
  • 46.35 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR390C 33
  • 41.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8430 34
  • 52 (a)
-- 34
  • 31 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07874 33
  • 47.42 (n)
Species where no ortholog for TIA1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TIA1 Gene

Gene Tree for TIA1 (if available)
Gene Tree for TIA1 (if available)
Evolutionary constrained regions (ECRs) for TIA1: view image

Paralogs for TIA1 Gene

Paralogs for TIA1 Gene

(7) SIMAP similar genes for TIA1 Gene using alignment to 9 proteins:

  • E5RG67_HUMAN
  • F8W8I6_HUMAN
  • F8WE16_HUMAN
  • H7BY49_HUMAN
  • L8E940_HUMAN
  • Q96B58_HUMAN
genes like me logo Genes that share paralogs with TIA1: view

Variants for TIA1 Gene

Sequence variations from dbSNP and Humsavar for TIA1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs114952383 benign, Welander distal myopathy 70,236,127(-) T/C 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs115611153 benign, not specified, Welander distal myopathy 70,214,430(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs116621885 conflicting-interpretations-of-pathogenicity, benign, Welander distal myopathy, not specified 70,212,810(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs116828570 benign, Welander distal myopathy 70,214,436(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs200499196 uncertain-significance, Welander distal myopathy 70,216,997(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TIA1 Gene

Variant ID Type Subtype PubMed ID
nsv518294 CNV loss 19592680

Variation tolerance for TIA1 Gene

Residual Variation Intolerance Score: 32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 36.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TIA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIA1 Gene

Disorders for TIA1 Gene

MalaCards: The human disease database

(33) MalaCards diseases for TIA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
welander distal myopathy
  • wdm
peripheral t-cell lymphoma
  • peripheral t cell lymphoma
composite lymphoma
  • composite hodgkin and non-hodgkin lymphoma
lymphocytic gastritis
- elite association - COSMIC cancer census association via MalaCards
Search TIA1 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:23348830, ECO:0000269 PubMed:23401021}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TIA1

genes like me logo Genes that share disorders with TIA1: view

No data available for Genatlas for TIA1 Gene

Publications for TIA1 Gene

  1. Intron-exon organization and chromosomal localization of the human TIA-1 gene. (PMID: 8176212) Kawakami A … Anderson P (Journal of immunology (Baltimore, Md. : 1950) 1994) 2 3 4 22 58
  2. Structure of the central RNA recognition motif of human TIA-1 at 1.95A resolution. (PMID: 18201561) Kumar AO … Kielkopf CL (Biochemical and biophysical research communications 2008) 3 4 22 58
  3. The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5' splice sites. (PMID: 12486009) Förch P … Valcárcel J (The EMBO journal 2002) 2 3 22 58
  4. A polyadenylate binding protein localized to the granules of cytolytic lymphocytes induces DNA fragmentation in target cells. (PMID: 1934064) Tian Q … Anderson P (Cell 1991) 3 4 22 58
  5. Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. (PMID: 23348830) Klar J … Dahl N (Human mutation 2013) 3 4 58

Products for TIA1 Gene

  • Addgene plasmids for TIA1

Sources for TIA1 Gene

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