Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7072
Gene name Gene Name - the full gene name approved by the HGNC.
TIA1 cytotoxic granule associated RNA binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TIA1
Synonyms (NCBI Gene) Gene synonyms aliases
ALS26, TIA-1, WDM
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALS26, WDM
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
Summary Summary of gene provided in NCBI Entrez 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 pr
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001818 Process Negative regulation of cytokine production IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 7544399, 12486009, 18164289
GO:0005634 Component Nucleus IDA 18164289
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603518 11802 ENSG00000116001
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Distal myopathy Distal myopathy, Welander type rs398123028, rs140614802, rs559454746, rs769542442, rs1572140109
Welander distal myopathy Welander Distal Myopathy, Welander distal myopathy, Swedish type rs747068278 27282841, 23401021, 23348830, 29457785, 10482271, 28817800
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis 26 with or without frontotemporal dementia GenCC
Distal Myopathy distal myopathy, Welander type GenCC
Associations from Text Mining
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