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Gene id

7072

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (70248792: 70209443) Exons: 17 NC_000002.12

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 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]

OMIM

603518

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: 42,963

Sequence

MEDEMPKTLYVGNLSRDVTEALILQLFSQIGPCKNCKMIMDTAGNDPYCFVEFHEHRHAAAALAAMNGRKIMGKE
VKVNWATTPSSQKKDTSSSTVVSTQRSQDHFHVFVGDLSPEITTEDIKAAFAPFGRISDARVVKDMATGKSKGYG
FVSFFNKWDAENAIQQMGGQWLGGRQIRTNWATRKPPAPKSTYESNTKQLSYDEVVNQSSPSNCTVYCGGVTSGL
TEQLMRQTFSPFGQIMEIRVFPDKGYSFVRFNSHESAAHAIVSVNGTTIEGHVVKCYWGKETLDMINPVQQQNQI
GYPQPYGQWGQWYGNAQQIGQYMPNGWQVPAYGMYGQAWNQQGFNQTQSSAPWMGPNYGVQPPQGQNGSMLPNQP
SGYRVAGYETQ

Structural information

Protein Domains	RRM (7-83) RRM (106-184) RRM (214-286)
Interpro:	IPR000504 IPR003954
Prosite:	PS50102
Pfam:	PF00076
PDB:	2MJN 3BS9 5ITH
PDBsum:	2MJN 3BS9 5ITH
MINT:	4823992
STRING:	ENSP00000401371;

Other Databases

GeneCards: TIA1; Malacards: TIA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006915	apoptotic process	IEA	biological_process
GO:0008143	poly(A) binding	TAS	molecular_function
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0010494	cytoplasmic stress granul e	IDA	cellular_component
GO:0017091	AU-rich element binding	IEA	molecular_function
GO:0017148	negative regulation of tr anslation	IEA	biological_process
GO:0042036	negative regulation of cy tokine biosynthetic proce ss	IEA	biological_process
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0048024	regulation of mRNA splici ng, via spliceosome	IDA	biological_process
GO:0097165	nuclear stress granule	IDA	cellular_component
GO:1903608	protein localization to c ytoplasmic stress granule	IMP	biological_process
GO:1904037	positive regulation of ep ithelial cell apoptotic p rocess	IEA	biological_process
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0003676	nucleic acid binding	IEA	molecular_function
GO:0003723	RNA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006915	apoptotic process	IEA	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0008143	poly(A) binding	TAS	molecular_function
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0010494	cytoplasmic stress granul e	IEA	cellular_component
GO:0010494	cytoplasmic stress granul e	IDA	cellular_component
GO:0017091	AU-rich element binding	IEA	molecular_function
GO:0017148	negative regulation of tr anslation	IEA	biological_process
GO:0030529	intracellular ribonucleop rotein complex	IEA	cellular_component
GO:0042036	negative regulation of cy tokine biosynthetic proce ss	IEA	biological_process
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0048024	regulation of mRNA splici ng, via spliceosome	IDA	biological_process
GO:0097165	nuclear stress granule	IEA	cellular_component
GO:0097165	nuclear stress granule	IDA	cellular_component
GO:1903608	protein localization to c ytoplasmic stress granule	IMP	biological_process
GO:1904037	positive regulation of ep ithelial cell apoptotic p rocess	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006915	apoptotic process	TAS	biological_process
GO:0008143	poly(A) binding	TAS	molecular_function
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0010494	cytoplasmic stress granul e	IDA	cellular_component
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0048024	regulation of mRNA splici ng, via spliceosome	IDA	biological_process
GO:0097165	nuclear stress granule	IDA	cellular_component
GO:1903608	protein localization to c ytoplasmic stress granule	IMP	biological_process

Diseases

Associated diseases	References
Distal myopathy	KEGG: H00594
Endometriosis	PMID: 25140393
Endometriosis	INFBASE25140393
Welander distal myopathy	OMIM: 603518

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25140393	Endometrio sis			47 (30 women wi thout endometri osis, 17 women with endometrio sis)		TNF-? IL-6 TIA-1	Show abstract