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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
  • TIA-1 3 4
  • TIA1 Cytotoxic Granule-Associated RNA-Binding Protein 2
  • P40-TIA-1 (Containing P15-TIA-1) 3
  • Nucleolysin TIA-1 Isoform P40 2
  • RNA-Binding Protein TIA-1 4
  • 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 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 Welander Distal Myopathy and Natural Killer Cell Leukemia. Among its related pathways are Formation of the HIV-1 Early Elongation Complex and IL-10 Pathway. 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.

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

Genomics for TIA1 Gene

Regulatory Elements for TIA1 Gene

Enhancers for TIA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TIA1 on UCSC Golden Path with GeneCards custom track

Promoters for TIA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TIA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TIA1 Gene

Chromosome:
2
Start:
70,209,444 bp from pter
End:
70,248,707 bp from pter
Size:
39,264 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

Proteomics data for TIA1 Gene at MOPED

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

Protein Domains for TIA1 Gene

Suggested Antigen Peptide Sequences for TIA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P31483

UniProtKB/Swiss-Prot:

TIA1_HUMAN :
  • Contains 3 RRM (RNA recognition motif) domains.
Domain:
  • Contains 3 RRM (RNA recognition motif) domains.
genes like me logo Genes that share domains with TIA1: view

Function for TIA1 Gene

Molecular function for TIA1 Gene

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
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.

Gene Ontology (GO) - Molecular Function for TIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
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:

Animal Model Products

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

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TIA1 Gene COMPARTMENTS Subcellular localization image for TIA1 gene
Compartment Confidence
nucleus 5
cytosol 3
vacuole 2
extracellular 1
lysosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IDA 24965446
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

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

Gene Ontology (GO) - Biological Process for TIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0042036 negative regulation of cytokine biosynthetic process IEA --
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:

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
ECgene alternative splicing isoforms for
TIA1

Expression for TIA1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for TIA1 Gene



SOURCE GeneReport for Unigene cluster for TIA1 Gene Hs.413123

genes like me logo Genes that share expression patterns with TIA1: view

Protein tissue co-expression partners for TIA1 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia TIA1 35
  • 95.47 (n)
  • 97.91 (a)
TIA1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TIA1 35
  • 95.94 (n)
  • 98.96 (a)
TIA1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tia1 35
  • 91.97 (n)
  • 96.63 (a)
Tia1 16
Tia1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TIA1 35
  • 99.83 (n)
  • 100 (a)
TIA1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tia1 35
  • 91.29 (n)
  • 96.27 (a)
oppossum
(Monodelphis domestica)
Mammalia TIA1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TIA1 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves TIA1 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tia1 35
  • 79.74 (n)
  • 88.05 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.4576 35
tia1 35
  • 74.6 (n)
  • 85.56 (a)
tia1 36
  • 82 (a)
ManyToMany
tia1l 36
  • 80 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4787 37
  • 61 (a)
CG34354 36
  • 30 (a)
ManyToMany
CG34362 36
  • 20 (a)
ManyToMany
Rox8 36
  • 38 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C07A4.1 37
  • 44 (a)
C18A3.5a 37
  • 51 (a)
C18A3.5b 37
  • 46 (a)
Y46G5A.13 37
  • 43 (a)
tiar-1 36
  • 38 (a)
ManyToMany
tiar-2 36
  • 33 (a)
ManyToMany
tiar-3 36
  • 25 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR390C 35
  • 41.86 (n)
  • 33.97 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08779g 35
  • 46.35 (n)
  • 33.9 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUB1 35
  • 47.71 (n)
  • 38.41 (a)
PUB1 36
  • 26 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU07874 35
  • 47.42 (n)
  • 41.03 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
CSA.8430 36
  • 52 (a)
ManyToMany
Species with no ortholog for TIA1:
  • 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)

Paralogs for TIA1 Gene

Paralogs for TIA1 Gene

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 Sequence Context AA Info Type
VAR_069897 Welander distal myopathy (WDM)
rs1562296 -- 70,245,347(-) TGCGG(C/T)TTTCC intron-variant
rs1804521 -- 70,214,362(-) GGAAC(A/C)AGCAA nc-transcript-variant, downstream-variant-500B, reference, missense
rs1823103 -- 70,230,608(-) ATGGC(A/G)CAGTC intron-variant
rs964392 -- 70,228,775(+) GCCCA(A/G)ATGGT intron-variant, utr-variant-5-prime

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)

Relevant External Links for TIA1 Gene

Human Gene Mutation Database (HGMD)
TIA1

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

Disorders for TIA1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for TIA1 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
welander distal myopathy
  • wdm
natural killer cell leukemia
  • aggressive nk-cell leukemia
panniculitis
mycosis fungoides
  • mf
composite lymphoma
  • composite hodgkin and non-hodgkin lymphoma
- 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.

Relevant External Links for TIA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Immunol. 1994) 2 3 4 23 67
  2. The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5' splice sites. (PMID: 12486009) FAPrch P. … ValcA!rcel J. (EMBO J. 2002) 2 3 23
  3. The ROQUIN family of proteins localizes to stress granules via the ROQ domain and binds target mRNAs. (PMID: 20412057) Athanasopoulos V. … Vinuesa C.G. (FEBS J. 2010) 3 23
  4. Cross-seeding fibrillation of Q/N-rich proteins offers new pathomechanism of polyglutamine diseases. (PMID: 19386911) Furukawa Y. … Nukina N. (J. Neurosci. 2009) 3 23
  5. Sam68 relocalization into stress granules in response to oxidative stress through complexing with TIA-1. (PMID: 19615357) Henao-Mejia J. … He J.J. (Exp. Cell Res. 2009) 3 23

Products for TIA1 Gene

Sources for TIA1 Gene

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