Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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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

337

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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
MIRT036261	hsa-miR-1229-3p	CLASH	23622248
MIRT1424322	hsa-let-7a	CLIP-seq
MIRT1424323	hsa-let-7b	CLIP-seq
MIRT1424324	hsa-let-7c	CLIP-seq
MIRT1424325	hsa-let-7d	CLIP-seq
MIRT1424326	hsa-let-7e	CLIP-seq
MIRT1424327	hsa-let-7f	CLIP-seq
MIRT1424328	hsa-let-7g	CLIP-seq
MIRT1424329	hsa-let-7i	CLIP-seq
MIRT1424330	hsa-miR-1276	CLIP-seq
MIRT1424331	hsa-miR-1289	CLIP-seq
MIRT1424332	hsa-miR-1290	CLIP-seq
MIRT1424333	hsa-miR-1299	CLIP-seq
MIRT1424334	hsa-miR-188-5p	CLIP-seq
MIRT1424335	hsa-miR-30a	CLIP-seq
MIRT1424336	hsa-miR-30b	CLIP-seq
MIRT1424337	hsa-miR-30c	CLIP-seq
MIRT1424338	hsa-miR-30d	CLIP-seq
MIRT1424339	hsa-miR-30e	CLIP-seq
MIRT1424340	hsa-miR-3119	CLIP-seq
MIRT1424341	hsa-miR-3137	CLIP-seq
MIRT1424342	hsa-miR-3159	CLIP-seq
MIRT1424343	hsa-miR-3161	CLIP-seq
MIRT1424344	hsa-miR-3198	CLIP-seq
MIRT1424345	hsa-miR-3200-5p	CLIP-seq
MIRT1424346	hsa-miR-337-5p	CLIP-seq
MIRT1424347	hsa-miR-339-5p	CLIP-seq
MIRT1424348	hsa-miR-3660	CLIP-seq
MIRT1424349	hsa-miR-4252	CLIP-seq
MIRT1424350	hsa-miR-4294	CLIP-seq
MIRT1424351	hsa-miR-4309	CLIP-seq
MIRT1424352	hsa-miR-4311	CLIP-seq
MIRT1424353	hsa-miR-4458	CLIP-seq
MIRT1424354	hsa-miR-4477b	CLIP-seq
MIRT1424355	hsa-miR-4493	CLIP-seq
MIRT1424356	hsa-miR-4500	CLIP-seq
MIRT1424357	hsa-miR-4526	CLIP-seq
MIRT1424358	hsa-miR-4687-3p	CLIP-seq
MIRT1424359	hsa-miR-4720-3p	CLIP-seq
MIRT1424360	hsa-miR-4760-5p	CLIP-seq
MIRT1424361	hsa-miR-4762-5p	CLIP-seq
MIRT1424362	hsa-miR-4782-5p	CLIP-seq
MIRT1424363	hsa-miR-4804-3p	CLIP-seq
MIRT1424364	hsa-miR-507	CLIP-seq
MIRT1424365	hsa-miR-516b	CLIP-seq
MIRT1424366	hsa-miR-548al	CLIP-seq
MIRT1424367	hsa-miR-557	CLIP-seq
MIRT1424368	hsa-miR-583	CLIP-seq
MIRT1424369	hsa-miR-767-3p	CLIP-seq
MIRT1424370	hsa-miR-889	CLIP-seq
MIRT1424371	hsa-miR-892b	CLIP-seq
MIRT1424372	hsa-miR-98	CLIP-seq
MIRT1424373	hsa-miR-101	CLIP-seq
MIRT1424374	hsa-miR-1245b-3p	CLIP-seq
MIRT1424375	hsa-miR-1260	CLIP-seq
MIRT1424376	hsa-miR-1260b	CLIP-seq
MIRT1424377	hsa-miR-1264	CLIP-seq
MIRT1424378	hsa-miR-144	CLIP-seq
MIRT1424379	hsa-miR-188-3p	CLIP-seq
MIRT1424380	hsa-miR-19a	CLIP-seq
MIRT1424381	hsa-miR-19b	CLIP-seq
MIRT1424382	hsa-miR-2278	CLIP-seq
MIRT1424335	hsa-miR-30a	CLIP-seq
MIRT1424336	hsa-miR-30b	CLIP-seq
MIRT1424337	hsa-miR-30c	CLIP-seq
MIRT1424338	hsa-miR-30d	CLIP-seq
MIRT1424339	hsa-miR-30e	CLIP-seq
MIRT1424383	hsa-miR-3136-5p	CLIP-seq
MIRT1424341	hsa-miR-3137	CLIP-seq
MIRT1424384	hsa-miR-3156-3p	CLIP-seq
MIRT1424343	hsa-miR-3161	CLIP-seq
MIRT1424345	hsa-miR-3200-5p	CLIP-seq
MIRT1424385	hsa-miR-335	CLIP-seq
MIRT1424346	hsa-miR-337-5p	CLIP-seq
MIRT1424347	hsa-miR-339-5p	CLIP-seq
MIRT1424386	hsa-miR-3609	CLIP-seq
MIRT1424387	hsa-miR-4263	CLIP-seq
MIRT1424388	hsa-miR-4439	CLIP-seq
MIRT1424389	hsa-miR-4468	CLIP-seq
MIRT1424390	hsa-miR-4513	CLIP-seq
MIRT1424391	hsa-miR-4635	CLIP-seq
MIRT1424392	hsa-miR-4639-5p	CLIP-seq
MIRT1424393	hsa-miR-4668-3p	CLIP-seq
MIRT1424394	hsa-miR-4731-3p	CLIP-seq
MIRT1424395	hsa-miR-4738-3p	CLIP-seq
MIRT1424396	hsa-miR-4799-5p	CLIP-seq
MIRT1424397	hsa-miR-4801	CLIP-seq
MIRT1424398	hsa-miR-494	CLIP-seq
MIRT1424399	hsa-miR-520g	CLIP-seq
MIRT1424400	hsa-miR-520h	CLIP-seq
MIRT1424401	hsa-miR-526b	CLIP-seq
MIRT1424402	hsa-miR-548a-5p	CLIP-seq
MIRT1424403	hsa-miR-548ab	CLIP-seq
MIRT1424404	hsa-miR-548ah	CLIP-seq
MIRT1424405	hsa-miR-548ak	CLIP-seq
MIRT1424406	hsa-miR-548b-5p	CLIP-seq
MIRT1424407	hsa-miR-548c-5p	CLIP-seq
MIRT1424408	hsa-miR-548d-5p	CLIP-seq
MIRT1424409	hsa-miR-548h	CLIP-seq
MIRT1424410	hsa-miR-548i	CLIP-seq
MIRT1424411	hsa-miR-548j	CLIP-seq
MIRT1424412	hsa-miR-548w	CLIP-seq
MIRT1424413	hsa-miR-548y	CLIP-seq
MIRT1424414	hsa-miR-559	CLIP-seq
MIRT1424415	hsa-miR-582-5p	CLIP-seq
MIRT1424416	hsa-miR-599	CLIP-seq
MIRT2127191	hsa-miR-1343	CLIP-seq
MIRT2127192	hsa-miR-139-5p	CLIP-seq
MIRT2127193	hsa-miR-153	CLIP-seq
MIRT2127194	hsa-miR-2467-3p	CLIP-seq
MIRT2127195	hsa-miR-25	CLIP-seq
MIRT2127196	hsa-miR-27a	CLIP-seq
MIRT2127197	hsa-miR-27b	CLIP-seq
MIRT2127198	hsa-miR-299-5p	CLIP-seq
MIRT2127199	hsa-miR-3074-3p	CLIP-seq
MIRT2127200	hsa-miR-3074-5p	CLIP-seq
MIRT2127201	hsa-miR-3123	CLIP-seq
MIRT2127202	hsa-miR-3124-3p	CLIP-seq
MIRT2127203	hsa-miR-3163	CLIP-seq
MIRT2127204	hsa-miR-32	CLIP-seq
MIRT1424386	hsa-miR-3609	CLIP-seq
MIRT2127205	hsa-miR-363	CLIP-seq
MIRT2127206	hsa-miR-367	CLIP-seq
MIRT2127207	hsa-miR-3678-3p	CLIP-seq
MIRT2127208	hsa-miR-378g	CLIP-seq
MIRT2127209	hsa-miR-3919	CLIP-seq
MIRT2127210	hsa-miR-412	CLIP-seq
MIRT2127211	hsa-miR-4420	CLIP-seq
MIRT2127212	hsa-miR-4437	CLIP-seq
MIRT2127213	hsa-miR-4674	CLIP-seq
MIRT1424396	hsa-miR-4799-5p	CLIP-seq
MIRT1424364	hsa-miR-507	CLIP-seq
MIRT2127214	hsa-miR-511	CLIP-seq
MIRT2127215	hsa-miR-513a-5p	CLIP-seq
MIRT1424399	hsa-miR-520g	CLIP-seq
MIRT1424400	hsa-miR-520h	CLIP-seq
MIRT1424404	hsa-miR-548ah	CLIP-seq
MIRT2127216	hsa-miR-548u	CLIP-seq
MIRT1424367	hsa-miR-557	CLIP-seq
MIRT2127217	hsa-miR-570	CLIP-seq
MIRT2127218	hsa-miR-579	CLIP-seq
MIRT1424415	hsa-miR-582-5p	CLIP-seq
MIRT2127219	hsa-miR-626	CLIP-seq
MIRT2127220	hsa-miR-760	CLIP-seq
MIRT2127221	hsa-miR-873	CLIP-seq
MIRT2127222	hsa-miR-92a	CLIP-seq
MIRT2127223	hsa-miR-92b	CLIP-seq
MIRT2127191	hsa-miR-1343	CLIP-seq
MIRT2349042	hsa-miR-3120-3p	CLIP-seq
MIRT2127203	hsa-miR-3163	CLIP-seq
MIRT1424345	hsa-miR-3200-5p	CLIP-seq
MIRT2349043	hsa-miR-4325	CLIP-seq
MIRT1424392	hsa-miR-4639-5p	CLIP-seq
MIRT2349044	hsa-miR-4672	CLIP-seq
MIRT2349045	hsa-miR-4803	CLIP-seq
MIRT1424401	hsa-miR-526b	CLIP-seq
MIRT2349046	hsa-miR-545	CLIP-seq
MIRT2349047	hsa-miR-548c-3p	CLIP-seq
MIRT1424415	hsa-miR-582-5p	CLIP-seq
MIRT2127193	hsa-miR-153	CLIP-seq
MIRT2127195	hsa-miR-25	CLIP-seq
MIRT2127201	hsa-miR-3123	CLIP-seq
MIRT2127204	hsa-miR-32	CLIP-seq
MIRT1424345	hsa-miR-3200-5p	CLIP-seq
MIRT2127205	hsa-miR-363	CLIP-seq
MIRT2127206	hsa-miR-367	CLIP-seq
MIRT2127209	hsa-miR-3919	CLIP-seq
MIRT1424415	hsa-miR-582-5p	CLIP-seq
MIRT2349048	hsa-miR-642b	CLIP-seq
MIRT2127222	hsa-miR-92a	CLIP-seq
MIRT2127223	hsa-miR-92b	CLIP-seq
MIRT2642256	hsa-miR-1238	CLIP-seq
MIRT2642257	hsa-miR-1243	CLIP-seq
MIRT2642258	hsa-miR-1261	CLIP-seq
MIRT2642259	hsa-miR-1270	CLIP-seq
MIRT2642260	hsa-miR-1287	CLIP-seq
MIRT2127191	hsa-miR-1343	CLIP-seq
MIRT2127192	hsa-miR-139-5p	CLIP-seq
MIRT1424380	hsa-miR-19a	CLIP-seq
MIRT1424381	hsa-miR-19b	CLIP-seq
MIRT2642261	hsa-miR-2113	CLIP-seq
MIRT2642262	hsa-miR-23a	CLIP-seq
MIRT2642263	hsa-miR-23b	CLIP-seq
MIRT2642264	hsa-miR-23c	CLIP-seq
MIRT2127196	hsa-miR-27a	CLIP-seq
MIRT2127197	hsa-miR-27b	CLIP-seq
MIRT1424335	hsa-miR-30a	CLIP-seq
MIRT1424336	hsa-miR-30b	CLIP-seq
MIRT1424337	hsa-miR-30c	CLIP-seq
MIRT1424338	hsa-miR-30d	CLIP-seq
MIRT1424339	hsa-miR-30e	CLIP-seq
MIRT2349042	hsa-miR-3120-3p	CLIP-seq
MIRT2127202	hsa-miR-3124-3p	CLIP-seq
MIRT2642265	hsa-miR-3135b	CLIP-seq
MIRT1424383	hsa-miR-3136-5p	CLIP-seq
MIRT2642266	hsa-miR-3143	CLIP-seq
MIRT2642267	hsa-miR-3145-3p	CLIP-seq
MIRT2642268	hsa-miR-3148	CLIP-seq
MIRT1424343	hsa-miR-3161	CLIP-seq
MIRT1424346	hsa-miR-337-5p	CLIP-seq
MIRT2642269	hsa-miR-3646	CLIP-seq
MIRT2642270	hsa-miR-3649	CLIP-seq
MIRT2642271	hsa-miR-3654	CLIP-seq
MIRT2642272	hsa-miR-3658	CLIP-seq
MIRT2642273	hsa-miR-3662	CLIP-seq
MIRT2642274	hsa-miR-382	CLIP-seq
MIRT2642275	hsa-miR-3942-3p	CLIP-seq
MIRT2349043	hsa-miR-4325	CLIP-seq
MIRT2642276	hsa-miR-4330	CLIP-seq
MIRT1424388	hsa-miR-4439	CLIP-seq
MIRT2642277	hsa-miR-4477a	CLIP-seq
MIRT2642278	hsa-miR-4511	CLIP-seq
MIRT1424390	hsa-miR-4513	CLIP-seq
MIRT2642279	hsa-miR-4639-3p	CLIP-seq
MIRT2642280	hsa-miR-4643	CLIP-seq
MIRT2642281	hsa-miR-4659a-3p	CLIP-seq
MIRT2642282	hsa-miR-4659b-3p	CLIP-seq
MIRT2642283	hsa-miR-4662a-3p	CLIP-seq
MIRT1424393	hsa-miR-4668-3p	CLIP-seq
MIRT2349044	hsa-miR-4672	CLIP-seq
MIRT2642284	hsa-miR-4683	CLIP-seq
MIRT2642285	hsa-miR-4698	CLIP-seq
MIRT2642286	hsa-miR-4728-3p	CLIP-seq
MIRT1424361	hsa-miR-4762-5p	CLIP-seq
MIRT2642287	hsa-miR-4775	CLIP-seq
MIRT2642288	hsa-miR-483-5p	CLIP-seq
MIRT1424364	hsa-miR-507	CLIP-seq
MIRT2127215	hsa-miR-513a-5p	CLIP-seq
MIRT1424401	hsa-miR-526b	CLIP-seq
MIRT2349046	hsa-miR-545	CLIP-seq
MIRT2642289	hsa-miR-548a-3p	CLIP-seq
MIRT2642290	hsa-miR-548ac	CLIP-seq
MIRT2642291	hsa-miR-548ae	CLIP-seq
MIRT2642292	hsa-miR-548aj	CLIP-seq
MIRT1424366	hsa-miR-548al	CLIP-seq
MIRT2642293	hsa-miR-548am	CLIP-seq
MIRT2642294	hsa-miR-548b-3p	CLIP-seq
MIRT2349047	hsa-miR-548c-3p	CLIP-seq
MIRT2642295	hsa-miR-548d-3p	CLIP-seq
MIRT2642296	hsa-miR-548e	CLIP-seq
MIRT2642297	hsa-miR-548f	CLIP-seq
MIRT2642298	hsa-miR-548g	CLIP-seq
MIRT2642299	hsa-miR-548x	CLIP-seq
MIRT2642300	hsa-miR-548z	CLIP-seq
MIRT2642301	hsa-miR-556-3p	CLIP-seq
MIRT1424367	hsa-miR-557	CLIP-seq
MIRT2642302	hsa-miR-561	CLIP-seq
MIRT2642303	hsa-miR-577	CLIP-seq
MIRT2127218	hsa-miR-579	CLIP-seq
MIRT1424415	hsa-miR-582-5p	CLIP-seq
MIRT2642304	hsa-miR-620	CLIP-seq
MIRT2349048	hsa-miR-642b	CLIP-seq
MIRT2642305	hsa-miR-802	CLIP-seq
MIRT1424370	hsa-miR-889	CLIP-seq
MIRT2642306	hsa-miR-942	CLIP-seq
MIRT2349048	hsa-miR-642b	CLIP-seq
MIRT2642257	hsa-miR-1243	CLIP-seq
MIRT2642258	hsa-miR-1261	CLIP-seq
MIRT2642259	hsa-miR-1270	CLIP-seq
MIRT2642260	hsa-miR-1287	CLIP-seq
MIRT2127191	hsa-miR-1343	CLIP-seq
MIRT2127192	hsa-miR-139-5p	CLIP-seq
MIRT1424380	hsa-miR-19a	CLIP-seq
MIRT1424381	hsa-miR-19b	CLIP-seq
MIRT2642261	hsa-miR-2113	CLIP-seq
MIRT2642262	hsa-miR-23a	CLIP-seq
MIRT2642263	hsa-miR-23b	CLIP-seq
MIRT2642264	hsa-miR-23c	CLIP-seq
MIRT2127196	hsa-miR-27a	CLIP-seq
MIRT2127197	hsa-miR-27b	CLIP-seq
MIRT1424335	hsa-miR-30a	CLIP-seq
MIRT1424336	hsa-miR-30b	CLIP-seq
MIRT1424337	hsa-miR-30c	CLIP-seq
MIRT1424338	hsa-miR-30d	CLIP-seq
MIRT1424339	hsa-miR-30e	CLIP-seq
MIRT2349042	hsa-miR-3120-3p	CLIP-seq
MIRT2642265	hsa-miR-3135b	CLIP-seq
MIRT1424383	hsa-miR-3136-5p	CLIP-seq
MIRT2642266	hsa-miR-3143	CLIP-seq
MIRT2642267	hsa-miR-3145-3p	CLIP-seq
MIRT1424343	hsa-miR-3161	CLIP-seq
MIRT1424346	hsa-miR-337-5p	CLIP-seq
MIRT2642269	hsa-miR-3646	CLIP-seq
MIRT2642271	hsa-miR-3654	CLIP-seq
MIRT2642272	hsa-miR-3658	CLIP-seq
MIRT2642273	hsa-miR-3662	CLIP-seq
MIRT2642274	hsa-miR-382	CLIP-seq
MIRT2642275	hsa-miR-3942-3p	CLIP-seq
MIRT2349043	hsa-miR-4325	CLIP-seq
MIRT2642276	hsa-miR-4330	CLIP-seq
MIRT1424388	hsa-miR-4439	CLIP-seq
MIRT2642277	hsa-miR-4477a	CLIP-seq
MIRT2642278	hsa-miR-4511	CLIP-seq
MIRT1424390	hsa-miR-4513	CLIP-seq
MIRT2642279	hsa-miR-4639-3p	CLIP-seq
MIRT2642280	hsa-miR-4643	CLIP-seq
MIRT2642281	hsa-miR-4659a-3p	CLIP-seq
MIRT2642282	hsa-miR-4659b-3p	CLIP-seq
MIRT2349044	hsa-miR-4672	CLIP-seq
MIRT2642284	hsa-miR-4683	CLIP-seq
MIRT2642285	hsa-miR-4698	CLIP-seq
MIRT2693176	hsa-miR-4711-3p	CLIP-seq
MIRT2642286	hsa-miR-4728-3p	CLIP-seq
MIRT1424361	hsa-miR-4762-5p	CLIP-seq
MIRT1424364	hsa-miR-507	CLIP-seq
MIRT2127215	hsa-miR-513a-5p	CLIP-seq
MIRT2349046	hsa-miR-545	CLIP-seq
MIRT2642289	hsa-miR-548a-3p	CLIP-seq
MIRT2642290	hsa-miR-548ac	CLIP-seq
MIRT2642291	hsa-miR-548ae	CLIP-seq
MIRT2642292	hsa-miR-548aj	CLIP-seq
MIRT1424366	hsa-miR-548al	CLIP-seq
MIRT2642293	hsa-miR-548am	CLIP-seq
MIRT2642294	hsa-miR-548b-3p	CLIP-seq
MIRT2642295	hsa-miR-548d-3p	CLIP-seq
MIRT2642296	hsa-miR-548e	CLIP-seq
MIRT2642297	hsa-miR-548f	CLIP-seq
MIRT2642298	hsa-miR-548g	CLIP-seq
MIRT2642299	hsa-miR-548x	CLIP-seq
MIRT2642300	hsa-miR-548z	CLIP-seq
MIRT2642301	hsa-miR-556-3p	CLIP-seq
MIRT1424367	hsa-miR-557	CLIP-seq
MIRT2642302	hsa-miR-561	CLIP-seq
MIRT2127218	hsa-miR-579	CLIP-seq
MIRT1424415	hsa-miR-582-5p	CLIP-seq
MIRT2693177	hsa-miR-592	CLIP-seq
MIRT1424416	hsa-miR-599	CLIP-seq
MIRT2642304	hsa-miR-620	CLIP-seq
MIRT2349048	hsa-miR-642b	CLIP-seq
MIRT2642305	hsa-miR-802	CLIP-seq
MIRT1424370	hsa-miR-889	CLIP-seq
MIRT2642306	hsa-miR-942	CLIP-seq

Show/Hide all (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
GO:0003723	Function	RNA binding	IDA	8576255
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	ISS
GO:0005515	Function	Protein binding	IPI	7544399, 12486009, 17135269, 18164289
GO:0005634	Component	Nucleus	IDA	8576255, 18164289
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	7488725, 24965446
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006397	Process	MRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	TAS	1934064
GO:0008143	Function	Poly(A) binding	TAS	1934064
GO:0008380	Process	RNA splicing	IEA
GO:0010494	Component	Cytoplasmic stress granule	IDA	8576255, 21984414
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0010494	Component	Cytoplasmic stress granule	ISS
GO:0017148	Process	Negative regulation of translation	IEA
GO:0017148	Process	Negative regulation of translation	ISS
GO:0034063	Process	Stress granule assembly	IDA	8576255
GO:0035925	Function	MRNA 3'-UTR AU-rich region binding	IEA
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IDA	7488725, 11106748
GO:0097165	Component	Nuclear stress granule	IDA	21984414
GO:0097165	Component	Nuclear stress granule	IEA
GO:1903608	Process	Protein localization to cytoplasmic stress granule	IMP	24965446
GO:1904037	Process	Positive regulation of epithelial cell apoptotic process	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
603518	11802	ENSG00000116001

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
AALAAMNGRKIMGKEVKVNWATTPSSQKKDTSSSTVVSTQRSQDHFHVFVGDLSPEITTE
DIKAAFAPFGRISDARVVKDMATGKSKGYGFVSFFNKWDAENAIQQMGGQWLGGRQIRTN
WATRKPPAPKSTYESNTKQLSYDEVVNQSSPSNCTVYCGGVTSGLTEQLMRQTFSPFGQI
MEIRVFPDKGYSFVRFNSHESAAHAIVSVNGTTIEGHVVKCYWGKETLDMINPVQQQNQI
GYPQPYGQWGQWYGNAQQIGQYMPNGWQVPAYGMYGQAWNQQGFNQTQSSAPWMGPNYGV
QPPQGQNGSMLPNQPSGYRVAGYETQ

Sequence length

386

Interactions

View interactions

	Reactome
			FGFR2 alternative splicing

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Welander distal myopathy	Likely pathogenic; Pathogenic	rs747068278	RCV000576901	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL MYOPATHY, WELANDER TYPE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TIA1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WELANDER DISTAL MYOPATHY, SWEDISH TYPE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (99)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	30367664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	19815002, 28817800, 28980860, 29216908, 29370934, 29699721, 29773329, 29886022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	23092511, 28817800, 29216908, 34291734, 34750982, 36112647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	31555352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	12614221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30865887, 31541970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30865887, 31541970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	15075353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17599736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34410578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	9720504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39940786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26958940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19641607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	12921808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	16232331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12149227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25224594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22859396, 25224594, 28257633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21179245, 32449240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	16820934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	27282841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	28221306, 30348840, 35269506, 36112647, 39682710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	34291734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal myopathy, Welander type	Distal Myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25140393	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25140393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enteropathy-Associated T-Cell Lymphoma	Enteropathy-Associated T-Cell Lymphoma	BEFREE	16232331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26958940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28817800, 29216908, 29370934, 29699721, 29773329, 29886022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28817800, 29216908, 29886022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	28980860		★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	23426534	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	20675271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	18647967, 19096012, 20065852, 26722524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	8506945	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	12149227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	17493234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	15073603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20599318, 29496454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	18438838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18438838, 39743791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10433941, 12405910, 15139996, 7890279, 9359478		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	16138337, 21274672, 9176382	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Follicular	Lymphoma	Pubtator	7510456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	7510456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	23302373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	23302373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	23302373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphomatoid Papulosis	Lymphomatoid Papulosis	BEFREE	11553311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	11566350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30144499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12434133, 28257633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25224594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30348840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	LHGDN	18642007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	20191052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	21189287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	10233858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22690734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	8823683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Type Extranodal NK/T-Cell Lymphoma	Extranodal NK T Cell Lymphoma	BEFREE	21867533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10404082, 12434133, 12949814, 22859396, 23302373, 28257633, 29340095, 29363227, 30144499, 31366386, 31555352, 9255261, 9949180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30367664, 34291734, 36112647, 36638831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30865887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	23227900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12434133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	30756140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36799242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	28191697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	28817800, 29370934, 29773329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	38497425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	8823683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30865887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	27596159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16820934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17599736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	12949814		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	18438838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	7544399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	21189287, 28775379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	25741594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30144499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	30144499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcutaneous panniculitis-like T-cell lymphoma	Subcutaneous Panniculitis-Like T-Cell Lymphoma	BEFREE	9563791, 9669350		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	11260307, 11956825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	30465259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	20675271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30327138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	12121440	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	9374383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Welander Distal Myopathy	Welander Distal Myopathy	CLINVAR_DG	10482271, 23348830, 23401021, 27282841, 28817800		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Welander Distal Myopathy	Welander Distal Myopathy	BEFREE	23348830, 23401021, 27282841, 30348840		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Welander Distal Myopathy	Welander Distal Myopathy	UNIPROT_DG	23348830, 23401021		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Welander Distal Myopathy	Welander Distal Myopathy	ORPHANET_DG	23348830, 23401021, 29457785		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Welander Distal Myopathy	Welander Distal Myopathy	GENOMICS_ENGLAND_DG	23401021		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Welander distal myopathy, Swedish type	Welander Distal Myopathy	ORPHANET_DG	23348830, 23401021, 29457785		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Welander distal myopathy, Swedish type	Welander Distal Myopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TIA1 (TIA1 cytotoxic granule associated RNA binding protein)