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	84896
Gene name	ATPase family AAA domain containing 1
Gene symbol	ATAD1
Synonyms (NCBI Gene)	AFDC1FNP001HKPX4Msp1THORASEhATAD1
Chromosome	10
Chromosome location	10q23.31

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SNP ID	Visualize variation	Clinical significance	Consequence
rs751499706	AT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1554874859	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant

366

Show/Hide all (366)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024433	hsa-miR-215-5p	Microarray	19074876
MIRT026753	hsa-miR-192-5p	Microarray	19074876
MIRT041617	hsa-miR-146b-5p	CLASH	23622248
MIRT052731	hsa-miR-1260b	CLASH	23622248
MIRT441169	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441169	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT803636	hsa-miR-1238	CLIP-seq
MIRT803637	hsa-miR-124	CLIP-seq
MIRT803638	hsa-miR-1287	CLIP-seq
MIRT803639	hsa-miR-194	CLIP-seq
MIRT803640	hsa-miR-28-3p	CLIP-seq
MIRT803641	hsa-miR-3065-3p	CLIP-seq
MIRT803642	hsa-miR-3155	CLIP-seq
MIRT803643	hsa-miR-3155b	CLIP-seq
MIRT803644	hsa-miR-335	CLIP-seq
MIRT803645	hsa-miR-3545-3p	CLIP-seq
MIRT803646	hsa-miR-3652	CLIP-seq
MIRT803647	hsa-miR-3662	CLIP-seq
MIRT803648	hsa-miR-3682-3p	CLIP-seq
MIRT803649	hsa-miR-3914	CLIP-seq
MIRT803650	hsa-miR-3973	CLIP-seq
MIRT803651	hsa-miR-3974	CLIP-seq
MIRT803652	hsa-miR-4272	CLIP-seq
MIRT803653	hsa-miR-4302	CLIP-seq
MIRT803654	hsa-miR-4320	CLIP-seq
MIRT803655	hsa-miR-4326	CLIP-seq
MIRT803656	hsa-miR-433	CLIP-seq
MIRT803657	hsa-miR-4420	CLIP-seq
MIRT803658	hsa-miR-4430	CLIP-seq
MIRT803659	hsa-miR-4502	CLIP-seq
MIRT803660	hsa-miR-4520a-5p	CLIP-seq
MIRT803661	hsa-miR-4520b-5p	CLIP-seq
MIRT803662	hsa-miR-4539	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT803664	hsa-miR-466	CLIP-seq
MIRT803665	hsa-miR-4691-5p	CLIP-seq
MIRT803666	hsa-miR-4709-5p	CLIP-seq
MIRT803667	hsa-miR-4724-5p	CLIP-seq
MIRT803668	hsa-miR-4731-3p	CLIP-seq
MIRT803669	hsa-miR-4789-3p	CLIP-seq
MIRT803670	hsa-miR-4789-5p	CLIP-seq
MIRT803671	hsa-miR-4801	CLIP-seq
MIRT803672	hsa-miR-484	CLIP-seq
MIRT803673	hsa-miR-496	CLIP-seq
MIRT803674	hsa-miR-506	CLIP-seq
MIRT803675	hsa-miR-520g	CLIP-seq
MIRT803676	hsa-miR-520h	CLIP-seq
MIRT803677	hsa-miR-548k	CLIP-seq
MIRT803678	hsa-miR-634	CLIP-seq
MIRT803679	hsa-miR-662	CLIP-seq
MIRT803680	hsa-miR-802	CLIP-seq
MIRT803681	hsa-miR-888	CLIP-seq
MIRT803636	hsa-miR-1238	CLIP-seq
MIRT1937374	hsa-miR-139-5p	CLIP-seq
MIRT1937375	hsa-miR-1825	CLIP-seq
MIRT803639	hsa-miR-194	CLIP-seq
MIRT1937376	hsa-miR-199a-5p	CLIP-seq
MIRT1937377	hsa-miR-199b-5p	CLIP-seq
MIRT1937378	hsa-miR-3140-3p	CLIP-seq
MIRT803652	hsa-miR-4272	CLIP-seq
MIRT803657	hsa-miR-4420	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT1937379	hsa-miR-4728-3p	CLIP-seq
MIRT1937380	hsa-miR-579	CLIP-seq
MIRT1937381	hsa-miR-642b	CLIP-seq
MIRT803680	hsa-miR-802	CLIP-seq
MIRT2176980	hsa-miR-1276	CLIP-seq
MIRT803638	hsa-miR-1287	CLIP-seq
MIRT2176981	hsa-miR-1296	CLIP-seq
MIRT2176982	hsa-miR-135a	CLIP-seq
MIRT2176983	hsa-miR-135b	CLIP-seq
MIRT803639	hsa-miR-194	CLIP-seq
MIRT2176984	hsa-miR-2909	CLIP-seq
MIRT803642	hsa-miR-3155	CLIP-seq
MIRT803643	hsa-miR-3155b	CLIP-seq
MIRT2176985	hsa-miR-338-5p	CLIP-seq
MIRT2176986	hsa-miR-361-5p	CLIP-seq
MIRT2176987	hsa-miR-3622a-3p	CLIP-seq
MIRT2176988	hsa-miR-3622b-3p	CLIP-seq
MIRT803646	hsa-miR-3652	CLIP-seq
MIRT2176989	hsa-miR-3658	CLIP-seq
MIRT2176990	hsa-miR-380	CLIP-seq
MIRT803651	hsa-miR-3974	CLIP-seq
MIRT803652	hsa-miR-4272	CLIP-seq
MIRT2176991	hsa-miR-4289	CLIP-seq
MIRT2176992	hsa-miR-4311	CLIP-seq
MIRT803654	hsa-miR-4320	CLIP-seq
MIRT803655	hsa-miR-4326	CLIP-seq
MIRT803656	hsa-miR-433	CLIP-seq
MIRT803658	hsa-miR-4430	CLIP-seq
MIRT2176993	hsa-miR-4436b-3p	CLIP-seq
MIRT2176994	hsa-miR-4495	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT803664	hsa-miR-466	CLIP-seq
MIRT803665	hsa-miR-4691-5p	CLIP-seq
MIRT803666	hsa-miR-4709-5p	CLIP-seq
MIRT803668	hsa-miR-4731-3p	CLIP-seq
MIRT2176995	hsa-miR-4738-3p	CLIP-seq
MIRT2176996	hsa-miR-4761-3p	CLIP-seq
MIRT803669	hsa-miR-4789-3p	CLIP-seq
MIRT803670	hsa-miR-4789-5p	CLIP-seq
MIRT2176997	hsa-miR-4795-3p	CLIP-seq
MIRT803671	hsa-miR-4801	CLIP-seq
MIRT803672	hsa-miR-484	CLIP-seq
MIRT2176998	hsa-miR-494	CLIP-seq
MIRT2176999	hsa-miR-514	CLIP-seq
MIRT2177000	hsa-miR-514b-3p	CLIP-seq
MIRT2177001	hsa-miR-577	CLIP-seq
MIRT2177002	hsa-miR-583	CLIP-seq
MIRT2177003	hsa-miR-587	CLIP-seq
MIRT1937381	hsa-miR-642b	CLIP-seq
MIRT803679	hsa-miR-662	CLIP-seq
MIRT803680	hsa-miR-802	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT2426534	hsa-miR-1225-3p	CLIP-seq
MIRT2426535	hsa-miR-1233	CLIP-seq
MIRT2426536	hsa-miR-4641	CLIP-seq
MIRT2426537	hsa-miR-4803	CLIP-seq
MIRT2435543	hsa-miR-208a	CLIP-seq
MIRT2435544	hsa-miR-208b	CLIP-seq
MIRT2176989	hsa-miR-3658	CLIP-seq
MIRT2435545	hsa-miR-3667-5p	CLIP-seq
MIRT2435546	hsa-miR-4729	CLIP-seq
MIRT2435547	hsa-miR-499-5p	CLIP-seq
MIRT2444141	hsa-miR-3163	CLIP-seq
MIRT2444142	hsa-miR-340	CLIP-seq
MIRT803647	hsa-miR-3662	CLIP-seq
MIRT2444143	hsa-miR-4282	CLIP-seq
MIRT803673	hsa-miR-496	CLIP-seq
MIRT2444144	hsa-miR-944	CLIP-seq
MIRT2444141	hsa-miR-3163	CLIP-seq
MIRT2444142	hsa-miR-340	CLIP-seq
MIRT803647	hsa-miR-3662	CLIP-seq
MIRT2444143	hsa-miR-4282	CLIP-seq
MIRT803673	hsa-miR-496	CLIP-seq
MIRT2444144	hsa-miR-944	CLIP-seq
MIRT2480327	hsa-miR-101	CLIP-seq
MIRT2480328	hsa-miR-1208	CLIP-seq
MIRT2426534	hsa-miR-1225-3p	CLIP-seq
MIRT2480329	hsa-miR-1229	CLIP-seq
MIRT2426535	hsa-miR-1233	CLIP-seq
MIRT803636	hsa-miR-1238	CLIP-seq
MIRT803637	hsa-miR-124	CLIP-seq
MIRT2480330	hsa-miR-1244	CLIP-seq
MIRT2480331	hsa-miR-1245b-5p	CLIP-seq
MIRT2480332	hsa-miR-1263	CLIP-seq
MIRT2480333	hsa-miR-1273d	CLIP-seq
MIRT2480334	hsa-miR-1303	CLIP-seq
MIRT2480335	hsa-miR-1305	CLIP-seq
MIRT2176982	hsa-miR-135a	CLIP-seq
MIRT2176983	hsa-miR-135b	CLIP-seq
MIRT1937374	hsa-miR-139-5p	CLIP-seq
MIRT2480336	hsa-miR-144	CLIP-seq
MIRT2480337	hsa-miR-147	CLIP-seq
MIRT2480338	hsa-miR-186	CLIP-seq
MIRT2480339	hsa-miR-199a-3p	CLIP-seq
MIRT2480340	hsa-miR-199b-3p	CLIP-seq
MIRT2435543	hsa-miR-208a	CLIP-seq
MIRT2435544	hsa-miR-208b	CLIP-seq
MIRT2480341	hsa-miR-298	CLIP-seq
MIRT803641	hsa-miR-3065-3p	CLIP-seq
MIRT2480342	hsa-miR-30a	CLIP-seq
MIRT2480343	hsa-miR-30b	CLIP-seq
MIRT2480344	hsa-miR-30c	CLIP-seq
MIRT2480345	hsa-miR-30d	CLIP-seq
MIRT2480346	hsa-miR-30e	CLIP-seq
MIRT2480347	hsa-miR-3129-3p	CLIP-seq
MIRT2480348	hsa-miR-3129-5p	CLIP-seq
MIRT2480349	hsa-miR-3133	CLIP-seq
MIRT2480350	hsa-miR-3142	CLIP-seq
MIRT2480351	hsa-miR-3158-5p	CLIP-seq
MIRT2444141	hsa-miR-3163	CLIP-seq
MIRT2480352	hsa-miR-3170	CLIP-seq
MIRT2480353	hsa-miR-3185	CLIP-seq
MIRT2480354	hsa-miR-3201	CLIP-seq
MIRT2480355	hsa-miR-323-3p	CLIP-seq
MIRT2176985	hsa-miR-338-5p	CLIP-seq
MIRT2480356	hsa-miR-34b	CLIP-seq
MIRT2480357	hsa-miR-3646	CLIP-seq
MIRT2176989	hsa-miR-3658	CLIP-seq
MIRT803647	hsa-miR-3662	CLIP-seq
MIRT2435545	hsa-miR-3667-5p	CLIP-seq
MIRT803648	hsa-miR-3682-3p	CLIP-seq
MIRT2480358	hsa-miR-3688-3p	CLIP-seq
MIRT2480359	hsa-miR-3690	CLIP-seq
MIRT2480360	hsa-miR-3691-5p	CLIP-seq
MIRT2480361	hsa-miR-3911	CLIP-seq
MIRT803649	hsa-miR-3914	CLIP-seq
MIRT803650	hsa-miR-3973	CLIP-seq
MIRT2480362	hsa-miR-4254	CLIP-seq
MIRT2480363	hsa-miR-4259	CLIP-seq
MIRT803652	hsa-miR-4272	CLIP-seq
MIRT803654	hsa-miR-4320	CLIP-seq
MIRT2480364	hsa-miR-4418	CLIP-seq
MIRT2480365	hsa-miR-4436b-5p	CLIP-seq
MIRT2480366	hsa-miR-4491	CLIP-seq
MIRT2176994	hsa-miR-4495	CLIP-seq
MIRT803659	hsa-miR-4502	CLIP-seq
MIRT803660	hsa-miR-4520a-5p	CLIP-seq
MIRT803661	hsa-miR-4520b-5p	CLIP-seq
MIRT2426536	hsa-miR-4641	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT2480367	hsa-miR-4657	CLIP-seq
MIRT803664	hsa-miR-466	CLIP-seq
MIRT2480368	hsa-miR-4661-3p	CLIP-seq
MIRT2480369	hsa-miR-4666-5p	CLIP-seq
MIRT2480370	hsa-miR-4694-3p	CLIP-seq
MIRT2480371	hsa-miR-4696	CLIP-seq
MIRT2480372	hsa-miR-4703-3p	CLIP-seq
MIRT2480373	hsa-miR-4715-5p	CLIP-seq
MIRT2480374	hsa-miR-4717-3p	CLIP-seq
MIRT2480375	hsa-miR-4718	CLIP-seq
MIRT2435546	hsa-miR-4729	CLIP-seq
MIRT2176995	hsa-miR-4738-3p	CLIP-seq
MIRT2480376	hsa-miR-4752	CLIP-seq
MIRT2480377	hsa-miR-4760-5p	CLIP-seq
MIRT803669	hsa-miR-4789-3p	CLIP-seq
MIRT803670	hsa-miR-4789-5p	CLIP-seq
MIRT2480378	hsa-miR-4791	CLIP-seq
MIRT2176997	hsa-miR-4795-3p	CLIP-seq
MIRT2426537	hsa-miR-4803	CLIP-seq
MIRT2480379	hsa-miR-488	CLIP-seq
MIRT2176998	hsa-miR-494	CLIP-seq
MIRT2435547	hsa-miR-499-5p	CLIP-seq
MIRT803674	hsa-miR-506	CLIP-seq
MIRT2480380	hsa-miR-509-3-5p	CLIP-seq
MIRT2480381	hsa-miR-509-5p	CLIP-seq
MIRT2480382	hsa-miR-513a-3p	CLIP-seq
MIRT2176999	hsa-miR-514	CLIP-seq
MIRT2177000	hsa-miR-514b-3p	CLIP-seq
MIRT803675	hsa-miR-520g	CLIP-seq
MIRT803676	hsa-miR-520h	CLIP-seq
MIRT2480383	hsa-miR-548ac	CLIP-seq
MIRT2480384	hsa-miR-548ae	CLIP-seq
MIRT2480385	hsa-miR-548aj	CLIP-seq
MIRT2480386	hsa-miR-548am	CLIP-seq
MIRT2480387	hsa-miR-548d-3p	CLIP-seq
MIRT803677	hsa-miR-548k	CLIP-seq
MIRT2480388	hsa-miR-548p	CLIP-seq
MIRT2480389	hsa-miR-548x	CLIP-seq
MIRT2480390	hsa-miR-548z	CLIP-seq
MIRT2480391	hsa-miR-561	CLIP-seq
MIRT2480392	hsa-miR-576-3p	CLIP-seq
MIRT2480393	hsa-miR-578	CLIP-seq
MIRT2480394	hsa-miR-581	CLIP-seq
MIRT2480395	hsa-miR-607	CLIP-seq
MIRT803678	hsa-miR-634	CLIP-seq
MIRT1937381	hsa-miR-642b	CLIP-seq
MIRT2480396	hsa-miR-644	CLIP-seq
MIRT2480397	hsa-miR-656	CLIP-seq
MIRT2480398	hsa-miR-660	CLIP-seq
MIRT2480399	hsa-miR-765	CLIP-seq
MIRT2480400	hsa-miR-889	CLIP-seq
MIRT2480401	hsa-miR-936	CLIP-seq
MIRT2480327	hsa-miR-101	CLIP-seq
MIRT2480328	hsa-miR-1208	CLIP-seq
MIRT2426534	hsa-miR-1225-3p	CLIP-seq
MIRT2480329	hsa-miR-1229	CLIP-seq
MIRT2426535	hsa-miR-1233	CLIP-seq
MIRT803636	hsa-miR-1238	CLIP-seq
MIRT803637	hsa-miR-124	CLIP-seq
MIRT2480330	hsa-miR-1244	CLIP-seq
MIRT2480331	hsa-miR-1245b-5p	CLIP-seq
MIRT2480332	hsa-miR-1263	CLIP-seq
MIRT2480333	hsa-miR-1273d	CLIP-seq
MIRT2480334	hsa-miR-1303	CLIP-seq
MIRT2480335	hsa-miR-1305	CLIP-seq
MIRT2176982	hsa-miR-135a	CLIP-seq
MIRT2176983	hsa-miR-135b	CLIP-seq
MIRT1937374	hsa-miR-139-5p	CLIP-seq
MIRT2480336	hsa-miR-144	CLIP-seq
MIRT2480337	hsa-miR-147	CLIP-seq
MIRT2480338	hsa-miR-186	CLIP-seq
MIRT2480339	hsa-miR-199a-3p	CLIP-seq
MIRT2480340	hsa-miR-199b-3p	CLIP-seq
MIRT2435543	hsa-miR-208a	CLIP-seq
MIRT2435544	hsa-miR-208b	CLIP-seq
MIRT2480341	hsa-miR-298	CLIP-seq
MIRT803641	hsa-miR-3065-3p	CLIP-seq
MIRT2480342	hsa-miR-30a	CLIP-seq
MIRT2480343	hsa-miR-30b	CLIP-seq
MIRT2480344	hsa-miR-30c	CLIP-seq
MIRT2480345	hsa-miR-30d	CLIP-seq
MIRT2480346	hsa-miR-30e	CLIP-seq
MIRT2480347	hsa-miR-3129-3p	CLIP-seq
MIRT2480348	hsa-miR-3129-5p	CLIP-seq
MIRT2480349	hsa-miR-3133	CLIP-seq
MIRT2480350	hsa-miR-3142	CLIP-seq
MIRT2480351	hsa-miR-3158-5p	CLIP-seq
MIRT2444141	hsa-miR-3163	CLIP-seq
MIRT2480352	hsa-miR-3170	CLIP-seq
MIRT2480353	hsa-miR-3185	CLIP-seq
MIRT2480354	hsa-miR-3201	CLIP-seq
MIRT2480355	hsa-miR-323-3p	CLIP-seq
MIRT2176985	hsa-miR-338-5p	CLIP-seq
MIRT2480356	hsa-miR-34b	CLIP-seq
MIRT2480357	hsa-miR-3646	CLIP-seq
MIRT2176989	hsa-miR-3658	CLIP-seq
MIRT803647	hsa-miR-3662	CLIP-seq
MIRT2435545	hsa-miR-3667-5p	CLIP-seq
MIRT803648	hsa-miR-3682-3p	CLIP-seq
MIRT2480358	hsa-miR-3688-3p	CLIP-seq
MIRT2480359	hsa-miR-3690	CLIP-seq
MIRT2480360	hsa-miR-3691-5p	CLIP-seq
MIRT2480361	hsa-miR-3911	CLIP-seq
MIRT803649	hsa-miR-3914	CLIP-seq
MIRT803650	hsa-miR-3973	CLIP-seq
MIRT2480362	hsa-miR-4254	CLIP-seq
MIRT2480363	hsa-miR-4259	CLIP-seq
MIRT803652	hsa-miR-4272	CLIP-seq
MIRT803654	hsa-miR-4320	CLIP-seq
MIRT2480364	hsa-miR-4418	CLIP-seq
MIRT2480365	hsa-miR-4436b-5p	CLIP-seq
MIRT2480366	hsa-miR-4491	CLIP-seq
MIRT2176994	hsa-miR-4495	CLIP-seq
MIRT803659	hsa-miR-4502	CLIP-seq
MIRT803660	hsa-miR-4520a-5p	CLIP-seq
MIRT803661	hsa-miR-4520b-5p	CLIP-seq
MIRT2426536	hsa-miR-4641	CLIP-seq
MIRT803663	hsa-miR-4643	CLIP-seq
MIRT2480367	hsa-miR-4657	CLIP-seq
MIRT2480368	hsa-miR-4661-3p	CLIP-seq
MIRT2480369	hsa-miR-4666-5p	CLIP-seq
MIRT2480370	hsa-miR-4694-3p	CLIP-seq
MIRT2480371	hsa-miR-4696	CLIP-seq
MIRT2480372	hsa-miR-4703-3p	CLIP-seq
MIRT2480373	hsa-miR-4715-5p	CLIP-seq
MIRT2480374	hsa-miR-4717-3p	CLIP-seq
MIRT2480375	hsa-miR-4718	CLIP-seq
MIRT2435546	hsa-miR-4729	CLIP-seq
MIRT2176995	hsa-miR-4738-3p	CLIP-seq
MIRT2480376	hsa-miR-4752	CLIP-seq
MIRT2480377	hsa-miR-4760-5p	CLIP-seq
MIRT2480378	hsa-miR-4791	CLIP-seq
MIRT2176997	hsa-miR-4795-3p	CLIP-seq
MIRT2426537	hsa-miR-4803	CLIP-seq
MIRT2480379	hsa-miR-488	CLIP-seq
MIRT2176998	hsa-miR-494	CLIP-seq
MIRT2435547	hsa-miR-499-5p	CLIP-seq
MIRT803674	hsa-miR-506	CLIP-seq
MIRT2480380	hsa-miR-509-3-5p	CLIP-seq
MIRT2480381	hsa-miR-509-5p	CLIP-seq
MIRT2480382	hsa-miR-513a-3p	CLIP-seq
MIRT2176999	hsa-miR-514	CLIP-seq
MIRT2177000	hsa-miR-514b-3p	CLIP-seq
MIRT803675	hsa-miR-520g	CLIP-seq
MIRT803676	hsa-miR-520h	CLIP-seq
MIRT2480383	hsa-miR-548ac	CLIP-seq
MIRT2480384	hsa-miR-548ae	CLIP-seq
MIRT2480385	hsa-miR-548aj	CLIP-seq
MIRT2480386	hsa-miR-548am	CLIP-seq
MIRT2480387	hsa-miR-548d-3p	CLIP-seq
MIRT803677	hsa-miR-548k	CLIP-seq
MIRT2480388	hsa-miR-548p	CLIP-seq
MIRT2480389	hsa-miR-548x	CLIP-seq
MIRT2480390	hsa-miR-548z	CLIP-seq
MIRT2480391	hsa-miR-561	CLIP-seq
MIRT2480392	hsa-miR-576-3p	CLIP-seq
MIRT2480395	hsa-miR-607	CLIP-seq
MIRT803678	hsa-miR-634	CLIP-seq
MIRT1937381	hsa-miR-642b	CLIP-seq
MIRT2480396	hsa-miR-644	CLIP-seq
MIRT2480397	hsa-miR-656	CLIP-seq
MIRT2480398	hsa-miR-660	CLIP-seq
MIRT2480399	hsa-miR-765	CLIP-seq
MIRT2480401	hsa-miR-936	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002092	Process	Positive regulation of receptor internalization	IEA
GO:0002092	Process	Positive regulation of receptor internalization	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IDA	24843043
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IDA	24843043
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0007612	Process	Learning	IEA
GO:0007612	Process	Learning	ISS
GO:0007613	Process	Memory	IEA
GO:0007613	Process	Memory	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	IEA
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IEA
GO:0140567	Function	Membrane protein dislocase activity	IEA
GO:0140570	Process	Extraction of mislocalized protein from mitochondrial outer membrane	IBA
GO:0140570	Process	Extraction of mislocalized protein from mitochondrial outer membrane	IDA	24843043

MIM	HGNC	e!Ensembl
614452	25903	ENSG00000138138

Q8NBU5

Protein name

Outer mitochondrial transmembrane helix translocase (EC 7.4.2.-) (ATPase family AAA domain-containing protein 1) (hATAD1) (Thorase)

Protein function

Outer mitochondrial translocase required to remove mislocalized tail-anchored transmembrane proteins on mitochondria (PubMed:24843043). Specifically recognizes and binds tail-anchored transmembrane proteins: acts as a dislocase that mediates the

PDB

7UPR , 7UPT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00004	AAA	129 → 259	ATPase family associated with various cellular activities (AAA)	Domain
PF17862	AAA_lid_3	281 → 336	AAA+ lid domain	Domain

Sequence

MVHAEAFSRPLSRNEVVGLIFRLTIFGAVTYFTIKWMVDAIDPTRKQKVEAQKQAEKLMK
QIGVKNVKLSEYEMSIAAHLVDPLNMHVTWSDIAGLDDVITDLKDTVILPIKKKHLFENS
RLLQPPKGVLLYGPPGCGKTLIAKATAKEAGCRFINLQPSTLTDKWYGESQKLAAAVFSL
AIKLQPSIIFIDEIDSFLRNRSSSDHEATAMMKAQFMSLWDGLDTDHSCQVIVMGATNRP
QDLDSAIMRRMPTRFHINQPALKQREAILKLILKNENVDRHVDLLEVAQETDGFSGSDLK
EMCRDAALLCVREYVNSTSEESHDEDEIRPVQQQDLHRAIEKMKKSKDAAFQNVLTHVCL
D

Sequence length

361

Interactions

View interactions

	Reactome
			Class I peroxisomal membrane protein import

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
Hyperekplexia 4	Likely pathogenic; Pathogenic	rs1554874859, rs751499706	RCV000656481 RCV000656482	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

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.
ATAD1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HYPEREKPLEXIA	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HYPEREXPLEXIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (93)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	9099202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	22365406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	1382719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	18066497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alpha trait thalassemia	alpha Thalassemia	BEFREE	25604491		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	19460160		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	19460160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12896855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	20097151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	29390050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	29390050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	8104532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11130248, 18200441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29390050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10337002, 10468307, 9677474, 9726005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11130248, 18200441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12690010, 12925969, 17174438, 1726950, 25040976, 7581485, 7581493, 8001264, 8103989, 8220094, 9635868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12646505, 22277800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	1974234		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17512722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17512722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	17261136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	8104532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11059519, 18768509, 24969905, 7614678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12919138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	19460160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29390050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21270613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	18074679, 19427967, 24969905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	18074679, 19427967, 24969905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	2539398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	20579990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	9686422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hyperekplexia	Hereditary Hyperekplexia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Hyperexplexia	Hyperekplexia	ORPHANET_DG	29390050		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	18768509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPEREKPLEXIA 4	Hyperekplexia	GENOMICS_ENGLAND_DG	28180185, 29390050		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPEREKPLEXIA 4	Hyperekplexia	CLINVAR_DG	28180185		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPEREKPLEXIA 4	Hyperekplexia	UNIPROT_DG	28180185, 29390050, 29659736		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperlipidemia	Hyperlipidemia	BEFREE	2901432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	2778934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIb	Hyperlipoproteinemia	BEFREE	2778934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1	Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia	BEFREE	16437602, 22107686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile hypophosphatasia	Hypophosphatasia	BEFREE	1689104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11245020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24969905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	18768509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10337002, 10468307, 9677474, 9726005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21270613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	18074679, 19427967, 24969905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	18287863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12690010, 12925969, 17174438, 1726950, 25040976, 7581485, 7581493, 8001264, 8103989, 8220094, 9635868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12646505, 22277800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31590960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24969905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11130248, 12505352, 18200441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10468307, 22876118, 24969905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17512722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34351705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	1382719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	2882882		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11245020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	11208426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11130248, 21565625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	18512131		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12646505, 22277800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31590960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	14732464, 8872868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Platelet Glycoprotein IV Deficiency	Platelet Glycoprotein IV Deficiency	BEFREE	22050542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	15333250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	15496536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	11245020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	BEFREE	8162604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24969905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	7614678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	20579990		★★★★★ ★☆☆☆☆ Found in Text Mining only

ATAD1 (ATPase family AAA domain containing 1)