Gene Gene information from NCBI Gene database.
Entrez ID 7072
Gene name TIA1 cytotoxic granule associated RNA binding protein
Gene symbol TIA1
Synonyms (NCBI Gene)
ALS26TIA-1WDM
Chromosome 2
Chromosome location 2p13.3
Summary 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 pr
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs116621885 T>C Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs747068278 C>T Pathogenic Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
337
miRTarBase ID miRNA Experiments Reference
MIRT000910 hsa-miR-15a-5p Microarray 18362358
MIRT000909 hsa-miR-16-5p Microarray 18362358
MIRT028191 hsa-miR-33a-5p Sequencing 20371350
MIRT029253 hsa-miR-26b-5p Microarray 19088304
MIRT043294 hsa-miR-331-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 14966131, 17580305
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IEA
GO:0001818 Process Negative regulation of cytokine production IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603518 11802 ENSG00000116001
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31483
Protein name Cytotoxic granule associated RNA binding protein TIA1 (Nucleolysin TIA-1 isoform p40) (RNA-binding protein TIA-1) (T-cell-restricted intracellular antigen-1) (TIA-1) (p40-TIA-1)
Protein function RNA-binding protein involved in the regulation of alternative pre-RNA splicing and mRNA translation by binding to uridine-rich (U-rich) RNA sequences (PubMed:11106748, PubMed:12486009, PubMed:17488725, PubMed:8576255). Binds to U-rich sequences
PDB 2MJN , 3BS9 , 5ITH , 5O2V , 5O3J , 6ELD , 7VI4 , 7VI5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 9 77 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 108 178 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 216 280 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, small intestine, kidney, liver, lung, skeletal muscle, testes, pancreas, and ovary (at protein level). {ECO:0000269|PubMed:17488725}.
Sequence
MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAA
AALAAMNGRKIMGKEVK
VNWATTPSSQKKDTSSSTVVSTQRSQDHFHVFVGDLSPEITTE
DIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWDAENAIQQMGGQWLGGRQIR
TN
WATRKPPAPKSTYESNTKQLSYDEVVNQSSPSNCTVYCGGVTSGLTEQLMRQTFSPFGQI
MEIRVFPDKGYSFVRFNSHESAAHAIVSVNGTTIEGHVVK
CYWGKETLDMINPVQQQNQI
GYPQPYGQWGQWYGNAQQIGQYMPNGWQVPAYGMYGQAWNQQGFNQTQSSAPWMGPNYGV
QPPQGQNGSMLPNQPSGYRVAGYETQ
Sequence length 386
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    FGFR2 alternative splicing
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
249
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Welander distal myopathy Likely pathogenic; Pathogenic rs747068278 RCV000576901
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs750862626 RCV005869569
AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA Conflicting classifications of pathogenicity rs757332023 RCV001281089
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia Conflicting classifications of pathogenicity; Uncertain significance rs769573516, rs116621885, rs965321568, rs768554955 RCV005361960
RCV003989508
RCV003993613
RCV001281090
Cervical cancer Likely benign; Benign rs533132091, rs750862626 RCV005920635
RCV005869570
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 38497425
Acquired Immunodeficiency Syndrome Associate 8506945
Alzheimer Disease Associate 30367664
Amyotrophic Lateral Sclerosis Associate 23092511, 28817800, 29216908, 34291734, 34750982, 36112647
Anemia Aplastic Associate 12614221
Arthritis Rheumatoid Associate 17599736
Autism Spectrum Disorder Associate 34410578
Breast Neoplasms Associate 39940786
Carcinogenesis Associate 26958940
Carcinoma Ovarian Epithelial Associate 19641607