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 speci... See more...

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 4
  • 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
  • GC02M070173

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 Signaling by GPCR and Formation of HIV-1 elongation complex containing HIV-1 Tat. 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 Summary 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 , Rfam classification 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
Score
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 CraniofacialAtlas 520 +1.0 1006 4.6 EP300 FOXK2 ZBTB40 ZNF217 TCF12 NRF1 POLR2G NCOR1 GTF2E2 PHF8 TIA1 C2orf42 MK671732-002 TRG-CCC2-1 lnc-C2orf42-4 FAM136A MPHOSPH10 lnc-SNRPG-1
GH02J070236 Promoter 0.3 EPDnew 500.4 +12.6 12614 0.1 TIA1 lnc-SNRPG-1 lnc-C2orf42-4 C2orf42
GH02J070224 Promoter 0.3 EPDnew 500.4 +24.1 24103 0.1 TIA1 SNRNP27 MXD1 lnc-SNRPG-1 lnc-PCYOX1-4 C2orf42 lnc-C2orf42-4
GH02J070225 Promoter 0.3 EPDnew 500.4 +23.3 23277 0.1 TIA1 SNRNP27 MXD1 lnc-SNRPG-1 lnc-PCYOX1-4 C2orf42 lnc-C2orf42-4
GH02J070227 Promoter 0.3 EPDnew 500.4 +21.0 20954 0.1 lnc-SNRPG-1 TIA1 MXD1 SNRNP27 lnc-PCYOX1-4 C2orf42 lnc-C2orf42-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TIA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TIA1

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

Genomic Locations for TIA1 Gene

Genomic Locations for TIA1 Gene
chr2:70,209,444-70,248,707
(GRCh38/hg38)
Size:
39,264 bases
Orientation:
Minus strand
chr2:70,436,576-70,475,792
(GRCh37/hg19)
Size:
39,217 bases
Orientation:
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:
    P31483-TIA1_HUMAN
    Recommended name:
    Nucleolysin TIA-1 isoform p40
    Protein Accession:
    P31483
    Secondary Accessions:
    • Q53SS9
    • Q96B58

    Protein attributes for TIA1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

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

Protein Domains for TIA1 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TIA1 Gene

GenScript: Design optimal peptide antigens:
  • p40-TIA-1 (TIA1_HUMAN)
genes like me logo Genes that share domains with TIA1: view

No data available for Graphical View of Domain Structure and 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 IEA,HDA 22658674
GO:0005515 protein binding IPI 7544399
GO:0008143 poly(A) binding TAS 1934064
GO:0035925 mRNA 3'-UTR AU-rich region 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

CRISPR 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

COMPARTMENTS
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 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 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 cytoplasmic stress granule 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
  • IL-10 Pathway
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 TAS,IEA --
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

mRNA/cDNA for TIA1 Gene

20 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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: - -
SP9:
SP10:
SP11:

ExUns: 12b ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TIA1 Gene

GeneLoc Exon Structure for
TIA1

Expression for TIA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TIA1

SOURCE GeneReport for Unigene cluster for TIA1 Gene:

Hs.413123

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
Systems:
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • head
Abdomen:
  • kidney
Limb:
  • arm
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia TIA1 31 30
  • 99.83 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TIA1 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TIA1 31 30
  • 95.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TIA1 31 30
  • 95.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tia1 17 31 30
  • 91.97 (n)
rat
(Rattus norvegicus)
Mammalia Tia1 30
  • 91.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TIA1 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves TIA1 31
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tia1 30
  • 79.74 (n)
zebrafish
(Danio rerio)
Actinopterygii tia1l 31
  • 80 (a)
ManyToMany
tia1 31 30
  • 74.6 (n)
ManyToMany
Dr.4576 30
fruit fly
(Drosophila melanogaster)
Insecta CG4787 32
  • 61 (a)
Rox8 31
  • 38 (a)
ManyToMany
CG34354 31
  • 30 (a)
ManyToMany
CG34362 31
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C18A3.5a 32
  • 51 (a)
C18A3.5b 32
  • 46 (a)
C07A4.1 32
  • 44 (a)
Y46G5A.13 32
  • 43 (a)
tiar-1 31
  • 38 (a)
ManyToMany
tiar-2 31
  • 33 (a)
ManyToMany
tiar-3 31
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUB1 31 30
  • 47.71 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08779g 30
  • 46.35 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR390C 30
  • 41.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8430 31
  • 52 (a)
ManyToMany
-- 31
  • 31 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU07874 30
  • 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

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

Paralogs for TIA1 Gene

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

  • TIA1_HUMAN
  • C9JTN7_HUMAN
  • E5RG67_HUMAN
  • E5RGV5_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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TIA1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
647155 Uncertain Significance: Welander distal myopathy 70,236,181(-) A/T INTRON_VARIANT
651295 Uncertain Significance: Welander distal myopathy 70,212,802(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
656197 Uncertain Significance: Welander distal myopathy 70,229,258(-) A/ACTT INTRON_VARIANT
656352 Uncertain Significance: Welander distal myopathy 70,215,489(-) T/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
702253 Benign: not provided 70,236,172(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TIA1 Gene

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)
TIA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIA1

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

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

Disorder Aliases PubMed IDs
welander distal myopathy
  • wdm
peripheral t-cell lymphoma
  • peripheral t cell lymphoma
aggressive nk-cell leukemia
  • large granular lymphocyte leukemia, nk-cell type
panniculitis
lymphocytic gastritis
- elite association - COSMIC cancer census association via MalaCards
Search TIA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TIA1_HUMAN
  • 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 23 54
  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 23 54
  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 23 54
  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 23 54
  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 54

Products for TIA1 Gene

Sources for TIA1 Gene