• Gene id: 7072

Gene Summary

• Gene Symbol: TIA1   Gene   UCSC   Ensembl
• Aliases: TIA-1, WDM
• Gene name: TIA1 cytotoxic granule associated RNA binding protein
• Alternate names: nucleolysin TIA-1 isoform p40, nucleolysin TIA-1, T-cell-restricted intracellular antigen-1, p40-TIA-1 (containing p15-TIA-1),
• Gene location: 2p13.3 (93448066: 93569670)     Exons: 20     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 603518

SNPs

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

Protein Summary

• Protein general information: P31483  
  • Name: Nucleolysin TIA 1 isoform p40 (RNA binding protein TIA 1) (T cell restricted intracellular antigen 1) (TIA 1) (p40 TIA 1)
  • Length: 386  
  • Mass: 42963
• Sequence:

  MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKE
  VKVNWATTPSSQKKDTSSSTVVSTQRSQDHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYG
  FVSFFNKWDAENAIQQMGGQWLGGRQIRTNWATRKPPAPKSTYESNTKQLSYDEVVNQSSPSNCTVYCGGVTSGL
  TEQLMRQTFSPFGQIMEIRVFPDKGYSFVRFNSHESAAHAIVSVNGTTIEGHVVKCYWGKETLDMINPVQQQNQI
  GYPQPYGQWGQWYGNAQQIGQYMPNGWQVPAYGMYGQAWNQQGFNQTQSSAPWMGPNYGVQPPQGQNGSMLPNQP
  SGYRVAGYETQ

• Structural information:
  • Protein Domains: (7..8-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (106..18-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (214..28-)
    (/note="RRM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR035979  IPR000504  IPR003954  IPR034830   IPR034832  
  • Prosite: PS50102
  • CDD: cd12618 cd12621
  • PDB: 2MJN 3BS9 5ITH 5O2V 5O3J 6ELD
  • PDBsum: 2MJN 3BS9 5ITH 5O2V 5O3J 6ELD
  • STRING: ENSP00000401371
• Other Databases: GeneCards:  TIA1  Malacards:  TIA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010494	cytoplasmic stress granule	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008143	poly(A) binding	TAS	molecular function
GO:0006915	apoptotic process	TAS	biological process
GO:0097165	nuclear stress granule	IDA	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1903608	protein localization to cytoplasmic stress granule	IMP	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0042036	negative regulation of cytokine biosynthetic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:1904037	positive regulation of epithelial cell apoptotic process	IEA	biological process
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0017148	negative regulation of translation	IEA	biological process
GO:0035925	mRNA 3'-UTR AU-rich region binding	IEA	molecular function
GO:0097165	nuclear stress granule	IEA	cellular component
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0048024	regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Distal myopathy	KEGG:H00594
Welander distal myopathy	KEGG:H01975
Distal myopathy	KEGG:H00594
Welander distal myopathy	KEGG:H01975
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)