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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55140
Gene name	Elongator acetyltransferase complex subunit 3
Gene symbol	ELP3
Synonyms (NCBI Gene)	KAT9
Chromosome	8
Chromosome location	8p21.1
Summary	ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]

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Show/Hide all (306)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031429	hsa-miR-16-5p	Proteomics	18668040
MIRT041378	hsa-miR-193b-3p	CLASH	23622248
MIRT038216	hsa-miR-342-5p	CLASH	23622248
MIRT526162	hsa-miR-5583-3p	HITS-CLIP	23313552
MIRT690167	hsa-miR-4293	HITS-CLIP	23313552
MIRT690166	hsa-miR-3622a-3p	HITS-CLIP	23313552
MIRT690165	hsa-miR-3622b-3p	HITS-CLIP	23313552
MIRT690164	hsa-miR-6765-3p	HITS-CLIP	23313552
MIRT690163	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT690162	hsa-miR-4459	HITS-CLIP	23313552
MIRT690161	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT690160	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT690159	hsa-miR-544b	HITS-CLIP	23313552
MIRT690158	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT690157	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT526164	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT526163	hsa-miR-6771-3p	PAR-CLIP	22012620
MIRT526162	hsa-miR-5583-3p	PAR-CLIP	22012620
MIRT526161	hsa-miR-3675-3p	PAR-CLIP	22012620
MIRT526160	hsa-miR-4684-5p	PAR-CLIP	22012620
MIRT496167	hsa-miR-4524b-3p	PAR-CLIP	22291592
MIRT496166	hsa-miR-1324	PAR-CLIP	22291592
MIRT496165	hsa-miR-3664-3p	PAR-CLIP	22291592
MIRT496164	hsa-miR-3934-3p	PAR-CLIP	22291592
MIRT690167	hsa-miR-4293	PAR-CLIP	27292025
MIRT690157	hsa-miR-4786-5p	PAR-CLIP	27292025
MIRT526162	hsa-miR-5583-3p	PAR-CLIP	27292025
MIRT526163	hsa-miR-6771-3p	PAR-CLIP	27292025
MIRT690160	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT526162	hsa-miR-5583-3p	HITS-CLIP	23313552
MIRT690167	hsa-miR-4293	HITS-CLIP	23313552
MIRT690166	hsa-miR-3622a-3p	HITS-CLIP	23313552
MIRT690165	hsa-miR-3622b-3p	HITS-CLIP	23313552
MIRT690164	hsa-miR-6765-3p	HITS-CLIP	23313552
MIRT690163	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT690162	hsa-miR-4459	HITS-CLIP	23313552
MIRT690161	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT690160	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT690159	hsa-miR-544b	HITS-CLIP	23313552
MIRT690158	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT690157	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT526164	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT526163	hsa-miR-6771-3p	PAR-CLIP	22012620
MIRT526162	hsa-miR-5583-3p	PAR-CLIP	22012620
MIRT526161	hsa-miR-3675-3p	PAR-CLIP	22012620
MIRT526160	hsa-miR-4684-5p	PAR-CLIP	22012620
MIRT496167	hsa-miR-4524b-3p	PAR-CLIP	22291592
MIRT496166	hsa-miR-1324	PAR-CLIP	22291592
MIRT496165	hsa-miR-3664-3p	PAR-CLIP	22291592
MIRT496164	hsa-miR-3934-3p	PAR-CLIP	22291592
MIRT961628	hsa-miR-1185	CLIP-seq
MIRT961629	hsa-miR-1228	CLIP-seq
MIRT961630	hsa-miR-1262	CLIP-seq
MIRT961631	hsa-miR-1321	CLIP-seq
MIRT961632	hsa-miR-217	CLIP-seq
MIRT961633	hsa-miR-24	CLIP-seq
MIRT961634	hsa-miR-2909	CLIP-seq
MIRT961635	hsa-miR-297	CLIP-seq
MIRT961636	hsa-miR-298	CLIP-seq
MIRT961637	hsa-miR-3064-5p	CLIP-seq
MIRT961638	hsa-miR-3155	CLIP-seq
MIRT961639	hsa-miR-3155b	CLIP-seq
MIRT961640	hsa-miR-3158-5p	CLIP-seq
MIRT961641	hsa-miR-3162-5p	CLIP-seq
MIRT961642	hsa-miR-3197	CLIP-seq
MIRT961643	hsa-miR-342-3p	CLIP-seq
MIRT961644	hsa-miR-3679-5p	CLIP-seq
MIRT961645	hsa-miR-3929	CLIP-seq
MIRT961646	hsa-miR-3973	CLIP-seq
MIRT961647	hsa-miR-4252	CLIP-seq
MIRT961648	hsa-miR-4270	CLIP-seq
MIRT961649	hsa-miR-4284	CLIP-seq
MIRT961650	hsa-miR-4418	CLIP-seq
MIRT961651	hsa-miR-4419b	CLIP-seq
MIRT961652	hsa-miR-4433	CLIP-seq
MIRT961653	hsa-miR-4441	CLIP-seq
MIRT961654	hsa-miR-4478	CLIP-seq
MIRT961655	hsa-miR-4514	CLIP-seq
MIRT961656	hsa-miR-4645-5p	CLIP-seq
MIRT961657	hsa-miR-4649-3p	CLIP-seq
MIRT961658	hsa-miR-4673	CLIP-seq
MIRT961659	hsa-miR-4692	CLIP-seq
MIRT961660	hsa-miR-4695-5p	CLIP-seq
MIRT961661	hsa-miR-4701-3p	CLIP-seq
MIRT961662	hsa-miR-4739	CLIP-seq
MIRT961663	hsa-miR-4755-3p	CLIP-seq
MIRT961664	hsa-miR-4756-5p	CLIP-seq
MIRT961665	hsa-miR-4793-3p	CLIP-seq
MIRT961666	hsa-miR-484	CLIP-seq
MIRT961667	hsa-miR-485-5p	CLIP-seq
MIRT961668	hsa-miR-508-5p	CLIP-seq
MIRT961669	hsa-miR-509-3-5p	CLIP-seq
MIRT961670	hsa-miR-509-5p	CLIP-seq
MIRT961671	hsa-miR-510	CLIP-seq
MIRT961672	hsa-miR-512-5p	CLIP-seq
MIRT961673	hsa-miR-515-5p	CLIP-seq
MIRT961674	hsa-miR-548u	CLIP-seq
MIRT961675	hsa-miR-550a	CLIP-seq
MIRT961676	hsa-miR-567	CLIP-seq
MIRT961677	hsa-miR-604	CLIP-seq
MIRT961678	hsa-miR-642b	CLIP-seq
MIRT961679	hsa-miR-647	CLIP-seq
MIRT961680	hsa-miR-661	CLIP-seq
MIRT961681	hsa-miR-766	CLIP-seq
MIRT961633	hsa-miR-24	CLIP-seq
MIRT961649	hsa-miR-4284	CLIP-seq
MIRT961652	hsa-miR-4433	CLIP-seq
MIRT961630	hsa-miR-1262	CLIP-seq
MIRT961633	hsa-miR-24	CLIP-seq
MIRT2219839	hsa-miR-3192	CLIP-seq
MIRT961647	hsa-miR-4252	CLIP-seq
MIRT961649	hsa-miR-4284	CLIP-seq
MIRT2219840	hsa-miR-4300	CLIP-seq
MIRT961652	hsa-miR-4433	CLIP-seq
MIRT2219841	hsa-miR-4505	CLIP-seq
MIRT961661	hsa-miR-4701-3p	CLIP-seq
MIRT961665	hsa-miR-4793-3p	CLIP-seq
MIRT961668	hsa-miR-508-5p	CLIP-seq
MIRT961678	hsa-miR-642b	CLIP-seq
MIRT961680	hsa-miR-661	CLIP-seq
MIRT961681	hsa-miR-766	CLIP-seq
MIRT2219842	hsa-miR-920	CLIP-seq
MIRT2387366	hsa-miR-3194-3p	CLIP-seq
MIRT961642	hsa-miR-3197	CLIP-seq
MIRT961629	hsa-miR-1228	CLIP-seq
MIRT2523351	hsa-miR-1283	CLIP-seq
MIRT961631	hsa-miR-1321	CLIP-seq
MIRT2523352	hsa-miR-137	CLIP-seq
MIRT2523353	hsa-miR-15a	CLIP-seq
MIRT2523354	hsa-miR-15b	CLIP-seq
MIRT2523355	hsa-miR-16	CLIP-seq
MIRT2523356	hsa-miR-1827	CLIP-seq
MIRT2523357	hsa-miR-186	CLIP-seq
MIRT2523358	hsa-miR-195	CLIP-seq
MIRT2523359	hsa-miR-2052	CLIP-seq
MIRT961633	hsa-miR-24	CLIP-seq
MIRT2523360	hsa-miR-25	CLIP-seq
MIRT2523361	hsa-miR-2682	CLIP-seq
MIRT961634	hsa-miR-2909	CLIP-seq
MIRT2523362	hsa-miR-3065-3p	CLIP-seq
MIRT2523363	hsa-miR-3124-3p	CLIP-seq
MIRT2523364	hsa-miR-3137	CLIP-seq
MIRT2523365	hsa-miR-3140-3p	CLIP-seq
MIRT2523366	hsa-miR-3144-5p	CLIP-seq
MIRT2523367	hsa-miR-3160-5p	CLIP-seq
MIRT961641	hsa-miR-3162-5p	CLIP-seq
MIRT2523368	hsa-miR-3168	CLIP-seq
MIRT2523369	hsa-miR-3185	CLIP-seq
MIRT2523370	hsa-miR-3190	CLIP-seq
MIRT2523371	hsa-miR-3191	CLIP-seq
MIRT2387366	hsa-miR-3194-3p	CLIP-seq
MIRT961642	hsa-miR-3197	CLIP-seq
MIRT2523372	hsa-miR-32	CLIP-seq
MIRT2523373	hsa-miR-326	CLIP-seq
MIRT2523374	hsa-miR-330-5p	CLIP-seq
MIRT2523375	hsa-miR-3605-5p	CLIP-seq
MIRT2523376	hsa-miR-3614-5p	CLIP-seq
MIRT2523377	hsa-miR-363	CLIP-seq
MIRT2523378	hsa-miR-3656	CLIP-seq
MIRT2523379	hsa-miR-367	CLIP-seq
MIRT2523380	hsa-miR-3685	CLIP-seq
MIRT2523381	hsa-miR-384	CLIP-seq
MIRT2523382	hsa-miR-3925-3p	CLIP-seq
MIRT961645	hsa-miR-3929	CLIP-seq
MIRT2523383	hsa-miR-3940-5p	CLIP-seq
MIRT2523384	hsa-miR-3960	CLIP-seq
MIRT961646	hsa-miR-3973	CLIP-seq
MIRT2523385	hsa-miR-424	CLIP-seq
MIRT2523386	hsa-miR-4260	CLIP-seq
MIRT2523387	hsa-miR-4263	CLIP-seq
MIRT2523388	hsa-miR-4277	CLIP-seq
MIRT2523389	hsa-miR-4283	CLIP-seq
MIRT961649	hsa-miR-4284	CLIP-seq
MIRT2523390	hsa-miR-4328	CLIP-seq
MIRT961651	hsa-miR-4419b	CLIP-seq
MIRT2523391	hsa-miR-4424	CLIP-seq
MIRT961652	hsa-miR-4433	CLIP-seq
MIRT961654	hsa-miR-4478	CLIP-seq
MIRT2523392	hsa-miR-4480	CLIP-seq
MIRT2523393	hsa-miR-4489	CLIP-seq
MIRT2523394	hsa-miR-4491	CLIP-seq
MIRT2523395	hsa-miR-449c	CLIP-seq
MIRT2523396	hsa-miR-4507	CLIP-seq
MIRT961655	hsa-miR-4514	CLIP-seq
MIRT2523397	hsa-miR-4524	CLIP-seq
MIRT961656	hsa-miR-4645-5p	CLIP-seq
MIRT961657	hsa-miR-4649-3p	CLIP-seq
MIRT2523398	hsa-miR-4652-5p	CLIP-seq
MIRT2523399	hsa-miR-4657	CLIP-seq
MIRT2523400	hsa-miR-4667-5p	CLIP-seq
MIRT961658	hsa-miR-4673	CLIP-seq
MIRT961659	hsa-miR-4692	CLIP-seq
MIRT961660	hsa-miR-4695-5p	CLIP-seq
MIRT2523401	hsa-miR-4700-5p	CLIP-seq
MIRT2523402	hsa-miR-4703-3p	CLIP-seq
MIRT2523403	hsa-miR-4704-3p	CLIP-seq
MIRT2523404	hsa-miR-4709-3p	CLIP-seq
MIRT2523405	hsa-miR-4725-5p	CLIP-seq
MIRT961662	hsa-miR-4739	CLIP-seq
MIRT2523406	hsa-miR-4747-5p	CLIP-seq
MIRT961664	hsa-miR-4756-5p	CLIP-seq
MIRT2523407	hsa-miR-4761-5p	CLIP-seq
MIRT2523408	hsa-miR-4775	CLIP-seq
MIRT2523409	hsa-miR-4777-3p	CLIP-seq
MIRT2523410	hsa-miR-4786-3p	CLIP-seq
MIRT2523411	hsa-miR-4799-5p	CLIP-seq
MIRT961667	hsa-miR-485-5p	CLIP-seq
MIRT2523412	hsa-miR-495	CLIP-seq
MIRT2523413	hsa-miR-497	CLIP-seq
MIRT2523414	hsa-miR-503	CLIP-seq
MIRT2523415	hsa-miR-504	CLIP-seq
MIRT2523416	hsa-miR-5096	CLIP-seq
MIRT961671	hsa-miR-510	CLIP-seq
MIRT961672	hsa-miR-512-5p	CLIP-seq
MIRT2523417	hsa-miR-513a-3p	CLIP-seq
MIRT961673	hsa-miR-515-5p	CLIP-seq
MIRT961675	hsa-miR-550a	CLIP-seq
MIRT2523418	hsa-miR-570	CLIP-seq
MIRT2523419	hsa-miR-576-5p	CLIP-seq
MIRT2523420	hsa-miR-583	CLIP-seq
MIRT2523421	hsa-miR-584	CLIP-seq
MIRT2523422	hsa-miR-587	CLIP-seq
MIRT2523423	hsa-miR-607	CLIP-seq
MIRT2523424	hsa-miR-637	CLIP-seq
MIRT2523425	hsa-miR-646	CLIP-seq
MIRT2523426	hsa-miR-658	CLIP-seq
MIRT961681	hsa-miR-766	CLIP-seq
MIRT2523427	hsa-miR-92a	CLIP-seq
MIRT2523428	hsa-miR-92b	CLIP-seq
MIRT961629	hsa-miR-1228	CLIP-seq
MIRT2523351	hsa-miR-1283	CLIP-seq
MIRT2523352	hsa-miR-137	CLIP-seq
MIRT2523353	hsa-miR-15a	CLIP-seq
MIRT2523354	hsa-miR-15b	CLIP-seq
MIRT2523355	hsa-miR-16	CLIP-seq
MIRT2523356	hsa-miR-1827	CLIP-seq
MIRT2523358	hsa-miR-195	CLIP-seq
MIRT2523360	hsa-miR-25	CLIP-seq
MIRT2523361	hsa-miR-2682	CLIP-seq
MIRT2523363	hsa-miR-3124-3p	CLIP-seq
MIRT2523364	hsa-miR-3137	CLIP-seq
MIRT2523366	hsa-miR-3144-5p	CLIP-seq
MIRT2523368	hsa-miR-3168	CLIP-seq
MIRT2523369	hsa-miR-3185	CLIP-seq
MIRT2523371	hsa-miR-3191	CLIP-seq
MIRT2387366	hsa-miR-3194-3p	CLIP-seq
MIRT961642	hsa-miR-3197	CLIP-seq
MIRT2523372	hsa-miR-32	CLIP-seq
MIRT2523373	hsa-miR-326	CLIP-seq
MIRT2523374	hsa-miR-330-5p	CLIP-seq
MIRT2523375	hsa-miR-3605-5p	CLIP-seq
MIRT2523376	hsa-miR-3614-5p	CLIP-seq
MIRT2523377	hsa-miR-363	CLIP-seq
MIRT2523378	hsa-miR-3656	CLIP-seq
MIRT2523379	hsa-miR-367	CLIP-seq
MIRT2523382	hsa-miR-3925-3p	CLIP-seq
MIRT961645	hsa-miR-3929	CLIP-seq
MIRT2523384	hsa-miR-3960	CLIP-seq
MIRT961646	hsa-miR-3973	CLIP-seq
MIRT2523385	hsa-miR-424	CLIP-seq
MIRT2523386	hsa-miR-4260	CLIP-seq
MIRT2523388	hsa-miR-4277	CLIP-seq
MIRT2523389	hsa-miR-4283	CLIP-seq
MIRT2523390	hsa-miR-4328	CLIP-seq
MIRT961651	hsa-miR-4419b	CLIP-seq
MIRT2523391	hsa-miR-4424	CLIP-seq
MIRT961652	hsa-miR-4433	CLIP-seq
MIRT961654	hsa-miR-4478	CLIP-seq
MIRT2523392	hsa-miR-4480	CLIP-seq
MIRT2523393	hsa-miR-4489	CLIP-seq
MIRT2523395	hsa-miR-449c	CLIP-seq
MIRT961655	hsa-miR-4514	CLIP-seq
MIRT2523397	hsa-miR-4524	CLIP-seq
MIRT961656	hsa-miR-4645-5p	CLIP-seq
MIRT961657	hsa-miR-4649-3p	CLIP-seq
MIRT2523398	hsa-miR-4652-5p	CLIP-seq
MIRT2523400	hsa-miR-4667-5p	CLIP-seq
MIRT961658	hsa-miR-4673	CLIP-seq
MIRT961659	hsa-miR-4692	CLIP-seq
MIRT961660	hsa-miR-4695-5p	CLIP-seq
MIRT2523401	hsa-miR-4700-5p	CLIP-seq
MIRT2523402	hsa-miR-4703-3p	CLIP-seq
MIRT2523403	hsa-miR-4704-3p	CLIP-seq
MIRT2523404	hsa-miR-4709-3p	CLIP-seq
MIRT2523405	hsa-miR-4725-5p	CLIP-seq
MIRT2523408	hsa-miR-4775	CLIP-seq
MIRT2523409	hsa-miR-4777-3p	CLIP-seq
MIRT2523410	hsa-miR-4786-3p	CLIP-seq
MIRT961667	hsa-miR-485-5p	CLIP-seq
MIRT2523413	hsa-miR-497	CLIP-seq
MIRT2523414	hsa-miR-503	CLIP-seq
MIRT2523415	hsa-miR-504	CLIP-seq
MIRT961671	hsa-miR-510	CLIP-seq
MIRT961672	hsa-miR-512-5p	CLIP-seq
MIRT2523417	hsa-miR-513a-3p	CLIP-seq
MIRT961673	hsa-miR-515-5p	CLIP-seq
MIRT961675	hsa-miR-550a	CLIP-seq
MIRT2523420	hsa-miR-583	CLIP-seq
MIRT2523421	hsa-miR-584	CLIP-seq
MIRT2523423	hsa-miR-607	CLIP-seq
MIRT2523424	hsa-miR-637	CLIP-seq
MIRT2523425	hsa-miR-646	CLIP-seq
MIRT2523426	hsa-miR-658	CLIP-seq
MIRT961681	hsa-miR-766	CLIP-seq
MIRT2523427	hsa-miR-92a	CLIP-seq
MIRT2523428	hsa-miR-92b	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	ISS
GO:0002098	Process	TRNA wobble uridine modification	IDA	29415125
GO:0002098	Process	TRNA wobble uridine modification	NAS	27847465
GO:0002926	Process	TRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	IBA
GO:0002926	Process	TRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	TAS	29332244
GO:0003723	Function	RNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	11714725, 19185337, 22854966, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA	11714725
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11714725, 11818576, 22854966
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	11818576
GO:0006417	Process	Regulation of translation	NAS	22854966
GO:0007399	Process	Nervous system development	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0008033	Process	TRNA processing	IEA
GO:0008607	Function	Phosphorylase kinase regulator activity	IDA	11818576
GO:0016407	Function	Acetyltransferase activity	IDA	11714725
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0033588	Component	Elongator holoenzyme complex	IBA
GO:0033588	Component	Elongator holoenzyme complex	IDA	22854966
GO:0033588	Component	Elongator holoenzyme complex	IPI	22854966
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0106261	Function	TRNA uridine(34) acetyltransferase activity	IEA
GO:0106261	Function	TRNA uridine(34) acetyltransferase activity	ISS

MIM	HGNC	e!Ensembl
612722	20696	ENSG00000134014

Q9H9T3

Protein name

Elongator complex protein 3 (hELP3) (EC 2.3.1.311) (tRNA uridine(34) acetyltransferase)

Protein function

Catalytic tRNA acetyltransferase subunit of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl

PDB

8PTX , 8PTY , 8PTZ , 8PU0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04055	Radical_SAM	96 → 305	Radical SAM superfamily	Domain
PF16199	Radical_SAM_C	312 → 393	Radical_SAM C-terminal domain	Family
PF00583	Acetyltransf_1	398 → 535	Acetyltransferase (GNAT) family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the cerebellum and spinal motor neurons. {ECO:0000269|PubMed:18996918}.

Sequence

MRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDI
IAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFTGNICVYCPGGPDSDF
EYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEE
YRDYFIRNLHDALSGHTSNNIYEAVKYSERSLTKCIGITIETRPDYCMKRHLSDMLTYGC
TRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQ
FTEFFENPAFRPDGLKLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWT
RVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQV
ELVRRDYVANGGWETFLSYEDPDQDILIGLLRLRKCSEETFRFELGGGVSIVRELHVYGS
VVPVSSRDPTKFQHQGFGMLLMEEAERIAREEHGSGKIAVISGVGTRNYYRKIGYRLQGP
YMVKMLK

Sequence length

547

Interactions

View interactions

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 Unknown Diseases (7)

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.
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	18996918		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20626565, 22470424, 29415125		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	22470424	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Breast Carcinoma	Breast Carcinoma	BEFREE	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32186433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30017196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	20626565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	25239657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32186433	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	26527802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	25148870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26527802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	27811057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22854966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	18996918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	25239657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25148870, 26527802, 29805303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30467633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	BEFREE	28834425		★★★★★ ★☆☆☆☆ Found in Text Mining only

ELP3 (elongator acetyltransferase complex subunit 3)