Gene Gene information from NCBI Gene database.
Entrez ID 7073
Gene name TIA1 cytotoxic granule associated RNA binding protein like 1
Gene symbol TIAL1
Synonyms (NCBI Gene)
TCBPTIAR
Chromosome 10
Chromosome location 10q26.11
Summary The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities includin
miRNA miRNA information provided by mirtarbase database.
676
miRTarBase ID miRNA Experiments Reference
MIRT025099 hsa-miR-181a-5p Sequencing 20371350
MIRT028531 hsa-miR-30a-5p Proteomics 18668040
MIRT028690 hsa-miR-27a-3p Sequencing 20371350
MIRT047221 hsa-miR-181c-5p CLASH 23622248
MIRT698489 hsa-miR-548c-3p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
RUNX3 Repression 17956589
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding TAS 1326761
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603413 11804 ENSG00000151923
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q01085
Protein name Nucleolysin TIAR (TIA-1-related protein)
Protein function RNA-binding protein involved in alternative pre-RNA splicing and in cytoplasmic stress granules formation (PubMed:10613902, PubMed:1326761, PubMed:17488725, PubMed:8576255). Shows a preference for uridine-rich RNAs (PubMed:8576255). Activates sp
PDB 1X4G , 2CQI , 2DH7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 11 79 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 99 169 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 207 271 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart, kidney, lung and skeletal muscle. {ECO:0000269|PubMed:17488725}.
Sequence
MMEDDGQPRTLYVGNLSRDVTEVLILQLFSQIGPCKSCKMITEHTSNDPYCFVEFYEHRD
AAAALAAMNGRKILGKEVK
VNWATTPSSQKKDTSNHFHVFVGDLSPEITTEDIKSAFAPF
GKISDARVVKDMATGKSKGYGFVSFYNKLDAENAIVHMGGQWLGGRQIR
TNWATRKPPAP
KSTQENNTKQLRFEDVVNQSSPKNCTVYCGGIASGLTDQLMRQTFSPFGQIMEIRVFPEK
GYSFVRFSTHESAAHAIVSVNGTTIEGHVVK
CYWGKESPDMTKNFQQVDYSQWGQWSQVY
GNPQQYGQYMANGWQVPPYGVYGQPWNQQGFGVDQSPSAAWMGGFGAQPPQGQAPPPVIP
PPNQAGYGMASYQTQ
Sequence length 375
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    FGFR2 alternative splicing
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Astrocytoma Astrocytoma Pubtator 27106762 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 25913416
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 25913416 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 33896245 Associate
★☆☆☆☆
Found in Text Mining only
Graves Disease Graves disease Pubtator 20675271 Associate
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease LHGDN 17869012
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 18438838 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Nephritis Lupus nephritis Pubtator 18438838 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 25913416
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms LHGDN 15514971
★☆☆☆☆
Found in Text Mining only