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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	7915
Gene name	Aldehyde dehydrogenase 5 family member A1
Gene symbol	ALDH5A1
Synonyms (NCBI Gene)	SSADHSSDH
Chromosome	6
Chromosome location	6p22.3
Summary	This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the me

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SNP ID	Visualize variation	Clinical significance	Consequence
rs72552281	G>A	Pathogenic	Coding sequence variant, missense variant
rs72552282	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs72552284	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs115784602	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs118203982	G>A	Pathogenic	Stop gained, coding sequence variant
rs118203983	C>T	Pathogenic	Stop gained, coding sequence variant
rs118203984	G>A	Pathogenic	Missense variant, coding sequence variant
rs142482046	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs144177566	G>A,C,T	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145208127	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147358733	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs148188703	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs375628463	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant
rs755029414	->TTGCCCT	Pathogenic	Coding sequence variant, frameshift variant
rs778127154	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs875989801	GTA>TT	Pathogenic	Intron variant, splice donor variant
rs1301821497	A>G	Pathogenic	Splice acceptor variant
rs1306678453	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561872640	G>A	Pathogenic	Splice donor variant, intron variant
rs1561879345	->G	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1561879380	G>A,T	Pathogenic	Splice donor variant
rs1581807379	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581815207	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1581819950	C>T	Likely-pathogenic	Stop gained, coding sequence variant

471

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020822	hsa-miR-155-5p	Proteomics	18668040
MIRT024624	hsa-miR-215-5p	Microarray	19074876
MIRT026627	hsa-miR-192-5p	Microarray	19074876
MIRT030518	hsa-miR-24-3p	Microarray	19748357
MIRT047973	hsa-miR-30c-5p	CLASH	23622248
MIRT054203	hsa-miR-210-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23028679
MIRT054214	hsa-miR-147b	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23028679
MIRT717855	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717854	hsa-miR-4520-5p	HITS-CLIP	19536157
MIRT717853	hsa-miR-4252	HITS-CLIP	19536157
MIRT717852	hsa-miR-4297	HITS-CLIP	19536157
MIRT717851	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717855	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717854	hsa-miR-4520-5p	HITS-CLIP	19536157
MIRT717853	hsa-miR-4252	HITS-CLIP	19536157
MIRT717852	hsa-miR-4297	HITS-CLIP	19536157
MIRT717851	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717850	hsa-miR-5088-5p	HITS-CLIP	19536157
MIRT717849	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT717848	hsa-miR-1283	HITS-CLIP	19536157
MIRT717847	hsa-miR-2682-3p	HITS-CLIP	19536157
MIRT717846	hsa-miR-6781-3p	HITS-CLIP	19536157
MIRT717845	hsa-miR-6847-3p	HITS-CLIP	19536157
MIRT717844	hsa-miR-4437	HITS-CLIP	19536157
MIRT717843	hsa-miR-520d-5p	HITS-CLIP	19536157
MIRT717842	hsa-miR-524-5p	HITS-CLIP	19536157
MIRT717841	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT646572	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT646571	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646570	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT680050	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646566	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646565	hsa-miR-1976	HITS-CLIP	23824327
MIRT680049	hsa-miR-3199	HITS-CLIP	23824327
MIRT680048	hsa-miR-8052	HITS-CLIP	23824327
MIRT680047	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT680046	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT646562	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT646561	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT646558	hsa-miR-4279	HITS-CLIP	23824327
MIRT646572	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT646571	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646570	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646569	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT646568	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT646567	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT646566	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646565	hsa-miR-1976	HITS-CLIP	23824327
MIRT646564	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT646563	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT646562	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT646561	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT646560	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT646559	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT646558	hsa-miR-4279	HITS-CLIP	23824327
MIRT717855	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717854	hsa-miR-4520-5p	HITS-CLIP	19536157
MIRT717853	hsa-miR-4252	HITS-CLIP	19536157
MIRT717852	hsa-miR-4297	HITS-CLIP	19536157
MIRT717851	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717855	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717854	hsa-miR-4520-5p	HITS-CLIP	19536157
MIRT717853	hsa-miR-4252	HITS-CLIP	19536157
MIRT717852	hsa-miR-4297	HITS-CLIP	19536157
MIRT717851	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717850	hsa-miR-5088-5p	HITS-CLIP	19536157
MIRT717849	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT717848	hsa-miR-1283	HITS-CLIP	19536157
MIRT717847	hsa-miR-2682-3p	HITS-CLIP	19536157
MIRT717846	hsa-miR-6781-3p	HITS-CLIP	19536157
MIRT717845	hsa-miR-6847-3p	HITS-CLIP	19536157
MIRT717844	hsa-miR-4437	HITS-CLIP	19536157
MIRT717843	hsa-miR-520d-5p	HITS-CLIP	19536157
MIRT717842	hsa-miR-524-5p	HITS-CLIP	19536157
MIRT717841	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT646572	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT646571	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646570	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT680050	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646566	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646565	hsa-miR-1976	HITS-CLIP	23824327
MIRT680049	hsa-miR-3199	HITS-CLIP	23824327
MIRT680048	hsa-miR-8052	HITS-CLIP	23824327
MIRT680047	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT680046	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT646562	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT646561	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT646558	hsa-miR-4279	HITS-CLIP	23824327
MIRT646572	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT646571	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646570	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646569	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT646568	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT646567	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT646566	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646565	hsa-miR-1976	HITS-CLIP	23824327
MIRT646564	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT646563	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT646562	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT646561	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT646560	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT646559	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT646558	hsa-miR-4279	HITS-CLIP	23824327
MIRT777471	hsa-miR-103b	CLIP-seq
MIRT777472	hsa-miR-1272	CLIP-seq
MIRT777473	hsa-miR-129-5p	CLIP-seq
MIRT777474	hsa-miR-146a	CLIP-seq
MIRT777475	hsa-miR-146b-5p	CLIP-seq
MIRT777476	hsa-miR-204	CLIP-seq
MIRT777477	hsa-miR-210	CLIP-seq
MIRT777478	hsa-miR-211	CLIP-seq
MIRT777479	hsa-miR-2113	CLIP-seq
MIRT777480	hsa-miR-3074-5p	CLIP-seq
MIRT777481	hsa-miR-3119	CLIP-seq
MIRT777482	hsa-miR-3124-3p	CLIP-seq
MIRT777483	hsa-miR-3136-5p	CLIP-seq
MIRT777484	hsa-miR-3140-3p	CLIP-seq
MIRT777485	hsa-miR-3160-3p	CLIP-seq
MIRT777486	hsa-miR-3607-3p	CLIP-seq
MIRT777487	hsa-miR-370	CLIP-seq
MIRT777488	hsa-miR-3940-5p	CLIP-seq
MIRT777489	hsa-miR-4251	CLIP-seq
MIRT777490	hsa-miR-4275	CLIP-seq
MIRT777491	hsa-miR-4318	CLIP-seq
MIRT777492	hsa-miR-4439	CLIP-seq
MIRT777493	hsa-miR-4446-5p	CLIP-seq
MIRT777494	hsa-miR-4487	CLIP-seq
MIRT777495	hsa-miR-4507	CLIP-seq
MIRT777496	hsa-miR-4663	CLIP-seq
MIRT777497	hsa-miR-4747-5p	CLIP-seq
MIRT777498	hsa-miR-4755-5p	CLIP-seq
MIRT777499	hsa-miR-4798-3p	CLIP-seq
MIRT777500	hsa-miR-548k	CLIP-seq
MIRT777501	hsa-miR-556-5p	CLIP-seq
MIRT777502	hsa-miR-558	CLIP-seq
MIRT777503	hsa-miR-563	CLIP-seq
MIRT777504	hsa-miR-589	CLIP-seq
MIRT777505	hsa-miR-623	CLIP-seq
MIRT777506	hsa-miR-943	CLIP-seq
MIRT777507	hsa-miR-1184	CLIP-seq
MIRT777508	hsa-miR-1205	CLIP-seq
MIRT777509	hsa-miR-122	CLIP-seq
MIRT777510	hsa-miR-1243	CLIP-seq
MIRT777511	hsa-miR-1255a	CLIP-seq
MIRT777512	hsa-miR-1255b	CLIP-seq
MIRT777513	hsa-miR-1261	CLIP-seq
MIRT777514	hsa-miR-1264	CLIP-seq
MIRT777515	hsa-miR-1273f	CLIP-seq
MIRT777516	hsa-miR-128	CLIP-seq
MIRT777517	hsa-miR-1285	CLIP-seq
MIRT777518	hsa-miR-1297	CLIP-seq
MIRT777519	hsa-miR-1303	CLIP-seq
MIRT777520	hsa-miR-1305	CLIP-seq
MIRT777521	hsa-miR-1324	CLIP-seq
MIRT777522	hsa-miR-138	CLIP-seq
MIRT777523	hsa-miR-144	CLIP-seq
MIRT777524	hsa-miR-145	CLIP-seq
MIRT777474	hsa-miR-146a	CLIP-seq
MIRT777475	hsa-miR-146b-5p	CLIP-seq
MIRT777525	hsa-miR-149	CLIP-seq
MIRT777526	hsa-miR-18a	CLIP-seq
MIRT777527	hsa-miR-18b	CLIP-seq
MIRT777528	hsa-miR-1913	CLIP-seq
MIRT777529	hsa-miR-1972	CLIP-seq
MIRT777476	hsa-miR-204	CLIP-seq
MIRT777478	hsa-miR-211	CLIP-seq
MIRT777530	hsa-miR-2110	CLIP-seq
MIRT777531	hsa-miR-2117	CLIP-seq
MIRT777532	hsa-miR-22	CLIP-seq
MIRT777533	hsa-miR-24	CLIP-seq
MIRT777534	hsa-miR-2682	CLIP-seq
MIRT777535	hsa-miR-26a	CLIP-seq
MIRT777536	hsa-miR-26b	CLIP-seq
MIRT777537	hsa-miR-27a	CLIP-seq
MIRT777538	hsa-miR-27b	CLIP-seq
MIRT777539	hsa-miR-296-5p	CLIP-seq
MIRT777540	hsa-miR-3064-5p	CLIP-seq
MIRT777480	hsa-miR-3074-5p	CLIP-seq
MIRT777541	hsa-miR-3121-3p	CLIP-seq
MIRT777482	hsa-miR-3124-3p	CLIP-seq
MIRT777542	hsa-miR-3125	CLIP-seq
MIRT777543	hsa-miR-3135b	CLIP-seq
MIRT777544	hsa-miR-3143	CLIP-seq
MIRT777545	hsa-miR-3146	CLIP-seq
MIRT777546	hsa-miR-3148	CLIP-seq
MIRT777547	hsa-miR-3153	CLIP-seq
MIRT777548	hsa-miR-3158-5p	CLIP-seq
MIRT777549	hsa-miR-3169	CLIP-seq
MIRT777550	hsa-miR-3187-5p	CLIP-seq
MIRT777551	hsa-miR-3192	CLIP-seq
MIRT777552	hsa-miR-3194-3p	CLIP-seq
MIRT777553	hsa-miR-3197	CLIP-seq
MIRT777554	hsa-miR-323-3p	CLIP-seq
MIRT777555	hsa-miR-324-3p	CLIP-seq
MIRT777556	hsa-miR-326	CLIP-seq
MIRT777557	hsa-miR-330-5p	CLIP-seq
MIRT777558	hsa-miR-3607-5p	CLIP-seq
MIRT777559	hsa-miR-3622a-5p	CLIP-seq
MIRT777560	hsa-miR-3622b-5p	CLIP-seq
MIRT777561	hsa-miR-3646	CLIP-seq
MIRT777562	hsa-miR-3652	CLIP-seq
MIRT777563	hsa-miR-3658	CLIP-seq
MIRT777564	hsa-miR-3662	CLIP-seq
MIRT777565	hsa-miR-3668	CLIP-seq
MIRT777566	hsa-miR-3688-5p	CLIP-seq
MIRT777567	hsa-miR-3689d	CLIP-seq
MIRT777487	hsa-miR-370	CLIP-seq
MIRT777568	hsa-miR-378g	CLIP-seq
MIRT777569	hsa-miR-3907	CLIP-seq
MIRT777570	hsa-miR-3916	CLIP-seq
MIRT777571	hsa-miR-3918	CLIP-seq
MIRT777572	hsa-miR-3922-5p	CLIP-seq
MIRT777573	hsa-miR-3935	CLIP-seq
MIRT777488	hsa-miR-3940-5p	CLIP-seq
MIRT777574	hsa-miR-3973	CLIP-seq
MIRT777575	hsa-miR-3974	CLIP-seq
MIRT777576	hsa-miR-412	CLIP-seq
MIRT777489	hsa-miR-4251	CLIP-seq
MIRT777577	hsa-miR-4269	CLIP-seq
MIRT777578	hsa-miR-4271	CLIP-seq
MIRT777579	hsa-miR-4272	CLIP-seq
MIRT777580	hsa-miR-4284	CLIP-seq
MIRT777581	hsa-miR-4294	CLIP-seq
MIRT777582	hsa-miR-4314	CLIP-seq
MIRT777583	hsa-miR-4328	CLIP-seq
MIRT777584	hsa-miR-4425	CLIP-seq
MIRT777585	hsa-miR-4430	CLIP-seq
MIRT777586	hsa-miR-4438	CLIP-seq
MIRT777493	hsa-miR-4446-5p	CLIP-seq
MIRT777587	hsa-miR-4455	CLIP-seq
MIRT777588	hsa-miR-4459	CLIP-seq
MIRT777589	hsa-miR-4465	CLIP-seq
MIRT777590	hsa-miR-4474-3p	CLIP-seq
MIRT777591	hsa-miR-4476	CLIP-seq
MIRT777592	hsa-miR-4480	CLIP-seq
MIRT777593	hsa-miR-4486	CLIP-seq
MIRT777594	hsa-miR-449c	CLIP-seq
MIRT777595	hsa-miR-4501	CLIP-seq
MIRT777596	hsa-miR-4506	CLIP-seq
MIRT777495	hsa-miR-4507	CLIP-seq
MIRT777597	hsa-miR-450b-3p	CLIP-seq
MIRT777598	hsa-miR-4515	CLIP-seq
MIRT777599	hsa-miR-4641	CLIP-seq
MIRT777600	hsa-miR-4645-5p	CLIP-seq
MIRT777601	hsa-miR-4646-5p	CLIP-seq
MIRT777602	hsa-miR-4659a-3p	CLIP-seq
MIRT777603	hsa-miR-4659b-3p	CLIP-seq
MIRT777604	hsa-miR-4660	CLIP-seq
MIRT777605	hsa-miR-4661-3p	CLIP-seq
MIRT777496	hsa-miR-4663	CLIP-seq
MIRT777606	hsa-miR-4673	CLIP-seq
MIRT777607	hsa-miR-4690-3p	CLIP-seq
MIRT777608	hsa-miR-4691-3p	CLIP-seq
MIRT777609	hsa-miR-4694-3p	CLIP-seq
MIRT777610	hsa-miR-4704-5p	CLIP-seq
MIRT777611	hsa-miR-4716-5p	CLIP-seq
MIRT777612	hsa-miR-4725-3p	CLIP-seq
MIRT777613	hsa-miR-4727-5p	CLIP-seq
MIRT777614	hsa-miR-4735-3p	CLIP-seq
MIRT777497	hsa-miR-4747-5p	CLIP-seq
MIRT777498	hsa-miR-4755-5p	CLIP-seq
MIRT777615	hsa-miR-4756-3p	CLIP-seq
MIRT777616	hsa-miR-4761-5p	CLIP-seq
MIRT777617	hsa-miR-4768-5p	CLIP-seq
MIRT777618	hsa-miR-4769-3p	CLIP-seq
MIRT777619	hsa-miR-4790-3p	CLIP-seq
MIRT777620	hsa-miR-4794	CLIP-seq
MIRT777621	hsa-miR-4795-3p	CLIP-seq
MIRT777499	hsa-miR-4798-3p	CLIP-seq
MIRT777622	hsa-miR-494	CLIP-seq
MIRT777623	hsa-miR-498	CLIP-seq
MIRT777624	hsa-miR-5095	CLIP-seq
MIRT777625	hsa-miR-512-3p	CLIP-seq
MIRT777626	hsa-miR-513a-3p	CLIP-seq
MIRT777627	hsa-miR-513a-5p	CLIP-seq
MIRT777628	hsa-miR-526b	CLIP-seq
MIRT777629	hsa-miR-543	CLIP-seq
MIRT777630	hsa-miR-544	CLIP-seq
MIRT777500	hsa-miR-548k	CLIP-seq
MIRT777631	hsa-miR-548l	CLIP-seq
MIRT777632	hsa-miR-548n	CLIP-seq
MIRT777633	hsa-miR-549	CLIP-seq
MIRT777634	hsa-miR-577	CLIP-seq
MIRT777635	hsa-miR-579	CLIP-seq
MIRT777504	hsa-miR-589	CLIP-seq
MIRT777636	hsa-miR-609	CLIP-seq
MIRT777637	hsa-miR-612	CLIP-seq
MIRT777505	hsa-miR-623	CLIP-seq
MIRT777638	hsa-miR-624	CLIP-seq
MIRT777639	hsa-miR-644	CLIP-seq
MIRT777640	hsa-miR-653	CLIP-seq
MIRT777641	hsa-miR-656	CLIP-seq
MIRT777642	hsa-miR-720	CLIP-seq
MIRT777643	hsa-miR-769-3p	CLIP-seq
MIRT777644	hsa-miR-877	CLIP-seq
MIRT777645	hsa-miR-940	CLIP-seq
MIRT1929540	hsa-miR-1	CLIP-seq
MIRT1929541	hsa-miR-1178	CLIP-seq
MIRT1929542	hsa-miR-1193	CLIP-seq
MIRT1929543	hsa-miR-1207-3p	CLIP-seq
MIRT1929544	hsa-miR-1236	CLIP-seq
MIRT1929545	hsa-miR-1237	CLIP-seq
MIRT1929546	hsa-miR-1248	CLIP-seq
MIRT1929547	hsa-miR-1266	CLIP-seq
MIRT1929548	hsa-miR-1290	CLIP-seq
MIRT777473	hsa-miR-129-5p	CLIP-seq
MIRT777518	hsa-miR-1297	CLIP-seq
MIRT1929549	hsa-miR-1302	CLIP-seq
MIRT1929550	hsa-miR-1827	CLIP-seq
MIRT777529	hsa-miR-1972	CLIP-seq
MIRT1929551	hsa-miR-203	CLIP-seq
MIRT1929552	hsa-miR-206	CLIP-seq
MIRT1929553	hsa-miR-2392	CLIP-seq
MIRT1929554	hsa-miR-23a	CLIP-seq
MIRT1929555	hsa-miR-23b	CLIP-seq
MIRT1929556	hsa-miR-23c	CLIP-seq
MIRT777535	hsa-miR-26a	CLIP-seq
MIRT777536	hsa-miR-26b	CLIP-seq
MIRT777537	hsa-miR-27a	CLIP-seq
MIRT777538	hsa-miR-27b	CLIP-seq
MIRT1929557	hsa-miR-3122	CLIP-seq
MIRT777543	hsa-miR-3135b	CLIP-seq
MIRT1929558	hsa-miR-3149	CLIP-seq
MIRT1929559	hsa-miR-3152-3p	CLIP-seq
MIRT1929560	hsa-miR-3167	CLIP-seq
MIRT1929561	hsa-miR-3189-3p	CLIP-seq
MIRT1929562	hsa-miR-3649	CLIP-seq
MIRT1929563	hsa-miR-365	CLIP-seq
MIRT1929564	hsa-miR-3667-3p	CLIP-seq
MIRT777567	hsa-miR-3689d	CLIP-seq
MIRT1929565	hsa-miR-3692	CLIP-seq
MIRT1929566	hsa-miR-3913-5p	CLIP-seq
MIRT1929567	hsa-miR-3921	CLIP-seq
MIRT777575	hsa-miR-3974	CLIP-seq
MIRT1929568	hsa-miR-411	CLIP-seq
MIRT777576	hsa-miR-412	CLIP-seq
MIRT777577	hsa-miR-4269	CLIP-seq
MIRT1929569	hsa-miR-4270	CLIP-seq
MIRT777579	hsa-miR-4272	CLIP-seq
MIRT1929570	hsa-miR-4283	CLIP-seq
MIRT777581	hsa-miR-4294	CLIP-seq
MIRT1929571	hsa-miR-4298	CLIP-seq
MIRT777586	hsa-miR-4438	CLIP-seq
MIRT1929572	hsa-miR-4441	CLIP-seq
MIRT777588	hsa-miR-4459	CLIP-seq
MIRT777589	hsa-miR-4465	CLIP-seq
MIRT777590	hsa-miR-4474-3p	CLIP-seq
MIRT1929573	hsa-miR-4489	CLIP-seq
MIRT1929574	hsa-miR-4518	CLIP-seq
MIRT1929575	hsa-miR-4520a-5p	CLIP-seq
MIRT1929576	hsa-miR-4520b-5p	CLIP-seq
MIRT1929577	hsa-miR-4533	CLIP-seq
MIRT777600	hsa-miR-4645-5p	CLIP-seq
MIRT1929578	hsa-miR-4649-3p	CLIP-seq
MIRT1929579	hsa-miR-4653-5p	CLIP-seq
MIRT777602	hsa-miR-4659a-3p	CLIP-seq
MIRT777603	hsa-miR-4659b-3p	CLIP-seq
MIRT1929580	hsa-miR-4662a-5p	CLIP-seq
MIRT777496	hsa-miR-4663	CLIP-seq
MIRT777606	hsa-miR-4673	CLIP-seq
MIRT1929581	hsa-miR-4676-5p	CLIP-seq
MIRT1929582	hsa-miR-4717-5p	CLIP-seq
MIRT1929583	hsa-miR-4731-5p	CLIP-seq
MIRT777497	hsa-miR-4747-5p	CLIP-seq
MIRT1929584	hsa-miR-4753-5p	CLIP-seq
MIRT1929585	hsa-miR-4755-3p	CLIP-seq
MIRT1929586	hsa-miR-483-5p	CLIP-seq
MIRT777623	hsa-miR-498	CLIP-seq
MIRT1929587	hsa-miR-508-5p	CLIP-seq
MIRT777624	hsa-miR-5095	CLIP-seq
MIRT1929588	hsa-miR-5096	CLIP-seq
MIRT1929589	hsa-miR-510	CLIP-seq
MIRT777627	hsa-miR-513a-5p	CLIP-seq
MIRT1929590	hsa-miR-548ae	CLIP-seq
MIRT1929591	hsa-miR-548aj	CLIP-seq
MIRT1929592	hsa-miR-548am	CLIP-seq
MIRT1929593	hsa-miR-548x	CLIP-seq
MIRT1929594	hsa-miR-575	CLIP-seq
MIRT1929595	hsa-miR-613	CLIP-seq
MIRT777640	hsa-miR-653	CLIP-seq
MIRT777641	hsa-miR-656	CLIP-seq
MIRT1929596	hsa-miR-876-5p	CLIP-seq
MIRT1929597	hsa-miR-890	CLIP-seq
MIRT1929540	hsa-miR-1	CLIP-seq
MIRT1929541	hsa-miR-1178	CLIP-seq
MIRT2170413	hsa-miR-1182	CLIP-seq
MIRT777507	hsa-miR-1184	CLIP-seq
MIRT777508	hsa-miR-1205	CLIP-seq
MIRT777509	hsa-miR-122	CLIP-seq
MIRT1929549	hsa-miR-1302	CLIP-seq
MIRT2170414	hsa-miR-205	CLIP-seq
MIRT1929552	hsa-miR-206	CLIP-seq
MIRT1929554	hsa-miR-23a	CLIP-seq
MIRT1929555	hsa-miR-23b	CLIP-seq
MIRT1929556	hsa-miR-23c	CLIP-seq
MIRT2170415	hsa-miR-3117-5p	CLIP-seq
MIRT1929557	hsa-miR-3122	CLIP-seq
MIRT777543	hsa-miR-3135b	CLIP-seq
MIRT2170416	hsa-miR-3155	CLIP-seq
MIRT2170417	hsa-miR-3155b	CLIP-seq
MIRT777548	hsa-miR-3158-5p	CLIP-seq
MIRT2170418	hsa-miR-3166	CLIP-seq
MIRT1929561	hsa-miR-3189-3p	CLIP-seq
MIRT1929562	hsa-miR-3649	CLIP-seq
MIRT777562	hsa-miR-3652	CLIP-seq
MIRT2170419	hsa-miR-377	CLIP-seq
MIRT1929566	hsa-miR-3913-5p	CLIP-seq
MIRT777577	hsa-miR-4269	CLIP-seq
MIRT777581	hsa-miR-4294	CLIP-seq
MIRT1929571	hsa-miR-4298	CLIP-seq
MIRT2170420	hsa-miR-4305	CLIP-seq
MIRT777585	hsa-miR-4430	CLIP-seq
MIRT777586	hsa-miR-4438	CLIP-seq
MIRT777592	hsa-miR-4480	CLIP-seq
MIRT777600	hsa-miR-4645-5p	CLIP-seq
MIRT777606	hsa-miR-4673	CLIP-seq
MIRT2170421	hsa-miR-4695-3p	CLIP-seq
MIRT2170422	hsa-miR-4715-3p	CLIP-seq
MIRT777613	hsa-miR-4727-5p	CLIP-seq
MIRT2170423	hsa-miR-4733-3p	CLIP-seq
MIRT777616	hsa-miR-4761-5p	CLIP-seq
MIRT2170424	hsa-miR-4763-5p	CLIP-seq
MIRT777618	hsa-miR-4769-3p	CLIP-seq
MIRT2170425	hsa-miR-4771	CLIP-seq
MIRT2170426	hsa-miR-484	CLIP-seq
MIRT777624	hsa-miR-5095	CLIP-seq
MIRT2170427	hsa-miR-520g	CLIP-seq
MIRT2170428	hsa-miR-520h	CLIP-seq
MIRT1929595	hsa-miR-613	CLIP-seq
MIRT777642	hsa-miR-720	CLIP-seq
MIRT2170429	hsa-miR-888	CLIP-seq
MIRT1929561	hsa-miR-3189-3p	CLIP-seq
MIRT1929558	hsa-miR-3149	CLIP-seq
MIRT777514	hsa-miR-1264	CLIP-seq
MIRT777626	hsa-miR-513a-3p	CLIP-seq
MIRT1929541	hsa-miR-1178	CLIP-seq
MIRT777509	hsa-miR-122	CLIP-seq
MIRT2473068	hsa-miR-1281	CLIP-seq
MIRT2473069	hsa-miR-1343	CLIP-seq
MIRT2473070	hsa-miR-2276	CLIP-seq
MIRT777543	hsa-miR-3135b	CLIP-seq
MIRT777561	hsa-miR-3646	CLIP-seq
MIRT2473071	hsa-miR-3647-3p	CLIP-seq
MIRT777562	hsa-miR-3652	CLIP-seq
MIRT777566	hsa-miR-3688-5p	CLIP-seq
MIRT777585	hsa-miR-4430	CLIP-seq
MIRT2473072	hsa-miR-4436a	CLIP-seq
MIRT2473073	hsa-miR-4470	CLIP-seq
MIRT777600	hsa-miR-4645-5p	CLIP-seq
MIRT777606	hsa-miR-4673	CLIP-seq
MIRT2170421	hsa-miR-4695-3p	CLIP-seq
MIRT2473074	hsa-miR-4700-3p	CLIP-seq
MIRT2473075	hsa-miR-767-3p	CLIP-seq
MIRT1929541	hsa-miR-1178	CLIP-seq
MIRT777509	hsa-miR-122	CLIP-seq
MIRT2473068	hsa-miR-1281	CLIP-seq
MIRT2473069	hsa-miR-1343	CLIP-seq
MIRT2473070	hsa-miR-2276	CLIP-seq
MIRT777543	hsa-miR-3135b	CLIP-seq
MIRT777561	hsa-miR-3646	CLIP-seq
MIRT2473071	hsa-miR-3647-3p	CLIP-seq
MIRT777562	hsa-miR-3652	CLIP-seq
MIRT777566	hsa-miR-3688-5p	CLIP-seq
MIRT777585	hsa-miR-4430	CLIP-seq
MIRT2473072	hsa-miR-4436a	CLIP-seq
MIRT2473073	hsa-miR-4470	CLIP-seq
MIRT777600	hsa-miR-4645-5p	CLIP-seq
MIRT777606	hsa-miR-4673	CLIP-seq
MIRT2170421	hsa-miR-4695-3p	CLIP-seq
MIRT2473074	hsa-miR-4700-3p	CLIP-seq
MIRT2473075	hsa-miR-767-3p	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004777	Function	Succinate-semialdehyde dehydrogenase (NAD+) activity	IBA
GO:0004777	Function	Succinate-semialdehyde dehydrogenase (NAD+) activity	IDA	9683595, 16199352
GO:0004777	Function	Succinate-semialdehyde dehydrogenase (NAD+) activity	IEA
GO:0004777	Function	Succinate-semialdehyde dehydrogenase (NAD+) activity	ISS	7814412
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006105	Process	Succinate metabolic process	IEA
GO:0006105	Process	Succinate metabolic process	ISS
GO:0006536	Process	Glutamate metabolic process	IEA
GO:0006536	Process	Glutamate metabolic process	ISS
GO:0007417	Process	Central nervous system development	IMP	9683595
GO:0009013	Function	Succinate-semialdehyde dehydrogenase [NAD(P)+] activity	IEA
GO:0009448	Process	Gamma-aminobutyric acid metabolic process	IEA
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IBA
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IDA	9683595
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IEA
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IEA
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IMP	15037717
GO:0009791	Process	Post-embryonic development	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0019752	Process	Carboxylic acid metabolic process	IEA
GO:0042802	Function	Identical protein binding	IPI	16199352
GO:0045202	Component	Synapse	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IEA

MIM	HGNC	e!Ensembl
610045	408	ENSG00000112294

P51649

Protein name

Succinate-semialdehyde dehydrogenase, mitochondrial (EC 1.2.1.24) (Aldehyde dehydrogenase family 5 member A1) (NAD(+)-dependent succinic semialdehyde dehydrogenase)

Protein function

Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).

PDB

2W8N , 2W8O , 2W8P , 2W8Q , 2W8R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00171	Aldedh	69 → 530	Aldehyde dehydrogenase family	Family

Tissue specificity

TISSUE SPECIFICITY: Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.

Sequence

MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLR
TDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKER
SSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIH
TPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALAL
AELASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSV
KRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAF
AEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFF
EPTLLCNVTQDMLCTHEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWR
VAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGGL

Sequence length

535

Interactions

View interactions

775

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALDH5A1-related disorder	Pathogenic; Likely pathogenic	rs375628463, rs2532868287, rs751888532	RCV004745292 RCV003397772 RCV003396822
Arthrogryposis multiplex congenita	Likely pathogenic	rs1581815207	RCV000855504
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1581815207	RCV000855504
See cases	Likely pathogenic; Pathogenic	rs762290992	RCV002287488
Succinate-semialdehyde dehydrogenase deficiency	Pathogenic; Likely pathogenic	rs1397344379, rs1294269013, rs985818920, rs2127385894, rs2127387279, rs747336313, rs748170674, rs1759308366, rs906284769, rs2127379151, rs953870735, rs2127382929, rs2127387936, rs2127389582, rs1421988285 View all (112 more)	RCV001388775 RCV001383232 RCV001383086 RCV001383176 RCV001389230 RCV001386894 RCV001380780 RCV001785908 RCV001885302 RCV002037648 RCV001910470 RCV001984815 RCV002000028 RCV002009495 RCV002032915 RCV001950180 RCV002051420 RCV000001420 RCV000001421 RCV000001422 RCV000001423 RCV000001424 RCV002509760 RCV002254536 RCV003037140 RCV002510251 RCV002510252 RCV002510488 RCV002510489 RCV002510490 RCV002510491 RCV002510492 RCV002510493 RCV002510494 RCV002510495 RCV002510496 RCV002510497 RCV002510498 RCV002510499 RCV002510500 RCV002510502 RCV002510503 RCV002510504 RCV002510505 RCV002510506 RCV002510507 RCV002510508 RCV002510509 RCV002510510 RCV002510511 RCV002510512 RCV002510513 RCV002510514 RCV002510515 RCV002510516 RCV002510517 RCV002510518 RCV002510519 RCV002510520 RCV002510521 RCV002510522 RCV002510523 RCV002510524 RCV002510525 RCV002510526 RCV002510527 RCV002510528 RCV002510529 RCV002510530 RCV002510531 RCV002510532 RCV002510534 RCV002510535 RCV002510536 RCV002510537 RCV002510538 RCV002510539 RCV002510540 RCV002510541 RCV002510542 RCV002510543 RCV002510544 RCV002510545 RCV002510546 RCV002510630 RCV002569820 RCV002638974 RCV002796703 RCV002875949 RCV002895365 RCV003008177 RCV003053662 RCV000211103 RCV000524751 RCV003134986 RCV003146816 RCV003236688 RCV003236690 RCV003236692 RCV003236694 RCV003495411 RCV003496798 RCV003600477 RCV003600219 RCV003856621 RCV003883349 RCV003990614 RCV004555421 RCV004555422 RCV004555423 RCV001064033 RCV001050829 RCV000700364 RCV002509419 RCV000549195 RCV000634923 RCV000706110 RCV000714525 RCV001855644 RCV000820918 RCV000822905 RCV000991436 RCV001035870 RCV001040458 RCV001219873 RCV001207776 RCV001209579 RCV001202475 RCV001238508 RCV001233016 RCV001264821 RCV001283754

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Conflicting classifications of pathogenicity	rs145208127	RCV005895874
EEG abnormality	Conflicting classifications of pathogenicity	rs142482046	RCV000678775
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	rs368212282, rs139719918, rs373320785, rs1764663348	RCV001252142 RCV001249504 RCV001252141 RCV001252140
Ovarian serous cystadenocarcinoma	Likely benign	rs1195099547	RCV005931616
Prostate cancer	Uncertain significance	rs193920892	RCV000149043
Seizure	Conflicting classifications of pathogenicity	rs200398000	RCV000678774
Thymoma	Likely benign	rs774497225	RCV005914615
Uterine carcinosarcoma	Uncertain significance	rs142677472	RCV005913568

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	32402538
Carcinoma Intraductal Noninfiltrating	Associate	23236365
Colonic Neoplasms	Associate	39252305
Developmental Disabilities	Associate	21438145
Diabetic Foot	Associate	38287255
Dyslexia	Associate	21438145
Epilepsy	Associate	32402538, 32887777
Esophageal Squamous Cell Carcinoma	Associate	36072903
Gait Ataxia	Associate	30829465
Glioma	Associate	30404651, 36976494
Hyperlipoproteinemia Type II	Associate	21438145
Intellectual Disability	Associate	32402538
Mental Disorders	Associate	24327614
Mitochondrial Complex II Deficiency	Associate	32223457
Muscle Hypotonia	Associate	32223457
Neoplasms	Associate	36976494
Neurodegenerative Diseases	Associate	36527006
Ovarian Neoplasms	Inhibit	26685161, 28346042
Psychomotor Disorders	Associate	32223457
REM Sleep Behavior Disorder	Associate	32402538
Rett Syndrome	Associate	30829465
Seizures	Associate	32223457
Strabismus	Associate	24327614
succinic semialdehyde dehydrogenase deficiency	Inhibit	21438145
succinic semialdehyde dehydrogenase deficiency	Associate	24327614, 30829465, 31117962, 32223457, 32402538, 32887777, 33203024, 36527006, 38452608
X Linked Combined Immunodeficiency Diseases	Associate	31117962

ALDH5A1 (aldehyde dehydrogenase 5 family member A1)