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	10157
Gene name	Aminoadipate-semialdehyde synthase
Gene symbol	AASS
Synonyms (NCBI Gene)	LKR/SDHLKRSDHLORSDH
Chromosome	7
Chromosome location	7q31.32
Summary	This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activit

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SNP ID	Visualize variation	Clinical significance	Consequence
rs387906333	CTTGTTTAC>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe indel, stop gained
rs587777121	CTTAC>AA	Pathogenic	Intron variant, splice donor variant
rs587777122	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587777123	TG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587777124	G>C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587777125	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587777126	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

340

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miRTarBase ID	miRNA	Experiments	Reference
MIRT527611	hsa-miR-591	PAR-CLIP	22012620
MIRT527610	hsa-miR-653-5p	PAR-CLIP	22012620
MIRT527611	hsa-miR-591	PAR-CLIP	22012620
MIRT527610	hsa-miR-653-5p	PAR-CLIP	22012620
MIRT757550	hsa-miR-1262	CLIP-seq
MIRT757551	hsa-miR-1268	CLIP-seq
MIRT757552	hsa-miR-1268b	CLIP-seq
MIRT757553	hsa-miR-1287	CLIP-seq
MIRT757554	hsa-miR-1299	CLIP-seq
MIRT757555	hsa-miR-1827	CLIP-seq
MIRT757556	hsa-miR-1908	CLIP-seq
MIRT757557	hsa-miR-1914	CLIP-seq
MIRT757558	hsa-miR-2053	CLIP-seq
MIRT757559	hsa-miR-2114	CLIP-seq
MIRT757560	hsa-miR-223	CLIP-seq
MIRT757561	hsa-miR-3074-3p	CLIP-seq
MIRT757562	hsa-miR-3074-5p	CLIP-seq
MIRT757563	hsa-miR-3613-3p	CLIP-seq
MIRT757564	hsa-miR-3652	CLIP-seq
MIRT757565	hsa-miR-3656	CLIP-seq
MIRT757566	hsa-miR-3664-5p	CLIP-seq
MIRT757567	hsa-miR-3682-3p	CLIP-seq
MIRT757568	hsa-miR-3689a-3p	CLIP-seq
MIRT757569	hsa-miR-3689c	CLIP-seq
MIRT757570	hsa-miR-371-5p	CLIP-seq
MIRT757571	hsa-miR-371b-5p	CLIP-seq
MIRT757572	hsa-miR-378	CLIP-seq
MIRT757573	hsa-miR-378b	CLIP-seq
MIRT757574	hsa-miR-378c	CLIP-seq
MIRT757575	hsa-miR-378d	CLIP-seq
MIRT757576	hsa-miR-378e	CLIP-seq
MIRT757577	hsa-miR-378f	CLIP-seq
MIRT757578	hsa-miR-378h	CLIP-seq
MIRT757579	hsa-miR-378i	CLIP-seq
MIRT757580	hsa-miR-3929	CLIP-seq
MIRT757581	hsa-miR-422a	CLIP-seq
MIRT757582	hsa-miR-4252	CLIP-seq
MIRT757583	hsa-miR-4260	CLIP-seq
MIRT757584	hsa-miR-4283	CLIP-seq
MIRT757585	hsa-miR-4327	CLIP-seq
MIRT757586	hsa-miR-4419b	CLIP-seq
MIRT757587	hsa-miR-4430	CLIP-seq
MIRT757588	hsa-miR-4437	CLIP-seq
MIRT757589	hsa-miR-4459	CLIP-seq
MIRT757590	hsa-miR-4478	CLIP-seq
MIRT757591	hsa-miR-4489	CLIP-seq
MIRT757592	hsa-miR-4537	CLIP-seq
MIRT757593	hsa-miR-4638-3p	CLIP-seq
MIRT757594	hsa-miR-4645-5p	CLIP-seq
MIRT757595	hsa-miR-4649-3p	CLIP-seq
MIRT757596	hsa-miR-4673	CLIP-seq
MIRT757597	hsa-miR-4684-5p	CLIP-seq
MIRT757598	hsa-miR-4695-5p	CLIP-seq
MIRT757599	hsa-miR-4699-3p	CLIP-seq
MIRT757600	hsa-miR-4701-3p	CLIP-seq
MIRT757601	hsa-miR-4722-5p	CLIP-seq
MIRT757602	hsa-miR-4724-5p	CLIP-seq
MIRT757603	hsa-miR-4728-5p	CLIP-seq
MIRT757604	hsa-miR-4768-3p	CLIP-seq
MIRT757605	hsa-miR-4782-5p	CLIP-seq
MIRT757606	hsa-miR-4793-3p	CLIP-seq
MIRT757607	hsa-miR-4794	CLIP-seq
MIRT757608	hsa-miR-485-5p	CLIP-seq
MIRT757609	hsa-miR-499-3p	CLIP-seq
MIRT757610	hsa-miR-499a-3p	CLIP-seq
MIRT757611	hsa-miR-508-5p	CLIP-seq
MIRT757612	hsa-miR-516b	CLIP-seq
MIRT757613	hsa-miR-520d-5p	CLIP-seq
MIRT757614	hsa-miR-524-5p	CLIP-seq
MIRT757615	hsa-miR-542-3p	CLIP-seq
MIRT757616	hsa-miR-550a	CLIP-seq
MIRT757617	hsa-miR-618	CLIP-seq
MIRT757618	hsa-miR-661	CLIP-seq
MIRT757619	hsa-miR-663	CLIP-seq
MIRT757620	hsa-miR-665	CLIP-seq
MIRT757621	hsa-miR-766	CLIP-seq
MIRT757622	hsa-miR-890	CLIP-seq
MIRT757623	hsa-miR-940	CLIP-seq
MIRT757550	hsa-miR-1262	CLIP-seq
MIRT1923424	hsa-miR-137	CLIP-seq
MIRT757555	hsa-miR-1827	CLIP-seq
MIRT757556	hsa-miR-1908	CLIP-seq
MIRT757559	hsa-miR-2114	CLIP-seq
MIRT757565	hsa-miR-3656	CLIP-seq
MIRT757568	hsa-miR-3689a-3p	CLIP-seq
MIRT757569	hsa-miR-3689c	CLIP-seq
MIRT757580	hsa-miR-3929	CLIP-seq
MIRT757582	hsa-miR-4252	CLIP-seq
MIRT757585	hsa-miR-4327	CLIP-seq
MIRT757586	hsa-miR-4419b	CLIP-seq
MIRT1923425	hsa-miR-4427	CLIP-seq
MIRT757589	hsa-miR-4459	CLIP-seq
MIRT757590	hsa-miR-4478	CLIP-seq
MIRT757592	hsa-miR-4537	CLIP-seq
MIRT757595	hsa-miR-4649-3p	CLIP-seq
MIRT757598	hsa-miR-4695-5p	CLIP-seq
MIRT757600	hsa-miR-4701-3p	CLIP-seq
MIRT757601	hsa-miR-4722-5p	CLIP-seq
MIRT757603	hsa-miR-4728-5p	CLIP-seq
MIRT757604	hsa-miR-4768-3p	CLIP-seq
MIRT757606	hsa-miR-4793-3p	CLIP-seq
MIRT757608	hsa-miR-485-5p	CLIP-seq
MIRT757611	hsa-miR-508-5p	CLIP-seq
MIRT757615	hsa-miR-542-3p	CLIP-seq
MIRT757616	hsa-miR-550a	CLIP-seq
MIRT1923426	hsa-miR-628-5p	CLIP-seq
MIRT757618	hsa-miR-661	CLIP-seq
MIRT757619	hsa-miR-663	CLIP-seq
MIRT757620	hsa-miR-665	CLIP-seq
MIRT757621	hsa-miR-766	CLIP-seq
MIRT757622	hsa-miR-890	CLIP-seq
MIRT757623	hsa-miR-940	CLIP-seq
MIRT2164890	hsa-miR-125a-5p	CLIP-seq
MIRT2164891	hsa-miR-125b	CLIP-seq
MIRT757550	hsa-miR-1262	CLIP-seq
MIRT757551	hsa-miR-1268	CLIP-seq
MIRT757552	hsa-miR-1268b	CLIP-seq
MIRT757555	hsa-miR-1827	CLIP-seq
MIRT757556	hsa-miR-1908	CLIP-seq
MIRT757559	hsa-miR-2114	CLIP-seq
MIRT2164892	hsa-miR-3147	CLIP-seq
MIRT2164893	hsa-miR-33a	CLIP-seq
MIRT2164894	hsa-miR-33b	CLIP-seq
MIRT757563	hsa-miR-3613-3p	CLIP-seq
MIRT757565	hsa-miR-3656	CLIP-seq
MIRT2164895	hsa-miR-3659	CLIP-seq
MIRT757568	hsa-miR-3689a-3p	CLIP-seq
MIRT757569	hsa-miR-3689c	CLIP-seq
MIRT757570	hsa-miR-371-5p	CLIP-seq
MIRT757571	hsa-miR-371b-5p	CLIP-seq
MIRT757580	hsa-miR-3929	CLIP-seq
MIRT757582	hsa-miR-4252	CLIP-seq
MIRT2164896	hsa-miR-4269	CLIP-seq
MIRT2164897	hsa-miR-4319	CLIP-seq
MIRT757585	hsa-miR-4327	CLIP-seq
MIRT757586	hsa-miR-4419b	CLIP-seq
MIRT2164898	hsa-miR-4425	CLIP-seq
MIRT2164899	hsa-miR-4438	CLIP-seq
MIRT2164900	hsa-miR-4446-5p	CLIP-seq
MIRT757589	hsa-miR-4459	CLIP-seq
MIRT757590	hsa-miR-4478	CLIP-seq
MIRT2164901	hsa-miR-450b-3p	CLIP-seq
MIRT757592	hsa-miR-4537	CLIP-seq
MIRT757595	hsa-miR-4649-3p	CLIP-seq
MIRT2164902	hsa-miR-4658	CLIP-seq
MIRT757598	hsa-miR-4695-5p	CLIP-seq
MIRT757600	hsa-miR-4701-3p	CLIP-seq
MIRT757601	hsa-miR-4722-5p	CLIP-seq
MIRT757603	hsa-miR-4728-5p	CLIP-seq
MIRT2164903	hsa-miR-4732-3p	CLIP-seq
MIRT2164904	hsa-miR-4755-5p	CLIP-seq
MIRT757604	hsa-miR-4768-3p	CLIP-seq
MIRT757606	hsa-miR-4793-3p	CLIP-seq
MIRT757608	hsa-miR-485-5p	CLIP-seq
MIRT757611	hsa-miR-508-5p	CLIP-seq
MIRT2164905	hsa-miR-5095	CLIP-seq
MIRT2164906	hsa-miR-520g	CLIP-seq
MIRT2164907	hsa-miR-520h	CLIP-seq
MIRT757615	hsa-miR-542-3p	CLIP-seq
MIRT757616	hsa-miR-550a	CLIP-seq
MIRT2164908	hsa-miR-574-5p	CLIP-seq
MIRT2164909	hsa-miR-579	CLIP-seq
MIRT757618	hsa-miR-661	CLIP-seq
MIRT757619	hsa-miR-663	CLIP-seq
MIRT757620	hsa-miR-665	CLIP-seq
MIRT2164910	hsa-miR-670	CLIP-seq
MIRT757621	hsa-miR-766	CLIP-seq
MIRT2164911	hsa-miR-769-3p	CLIP-seq
MIRT757622	hsa-miR-890	CLIP-seq
MIRT757623	hsa-miR-940	CLIP-seq
MIRT2383731	hsa-miR-150	CLIP-seq
MIRT757555	hsa-miR-1827	CLIP-seq
MIRT757559	hsa-miR-2114	CLIP-seq
MIRT757568	hsa-miR-3689a-3p	CLIP-seq
MIRT757569	hsa-miR-3689c	CLIP-seq
MIRT757580	hsa-miR-3929	CLIP-seq
MIRT757586	hsa-miR-4419b	CLIP-seq
MIRT757590	hsa-miR-4478	CLIP-seq
MIRT757595	hsa-miR-4649-3p	CLIP-seq
MIRT757601	hsa-miR-4722-5p	CLIP-seq
MIRT757603	hsa-miR-4728-5p	CLIP-seq
MIRT757604	hsa-miR-4768-3p	CLIP-seq
MIRT757608	hsa-miR-485-5p	CLIP-seq
MIRT757616	hsa-miR-550a	CLIP-seq
MIRT757622	hsa-miR-890	CLIP-seq
MIRT757623	hsa-miR-940	CLIP-seq
MIRT2466681	hsa-let-7a	CLIP-seq
MIRT2466682	hsa-let-7b	CLIP-seq
MIRT2466683	hsa-let-7c	CLIP-seq
MIRT2466684	hsa-let-7d	CLIP-seq
MIRT2466685	hsa-let-7e	CLIP-seq
MIRT2466686	hsa-let-7f	CLIP-seq
MIRT2466687	hsa-let-7g	CLIP-seq
MIRT2466688	hsa-let-7i	CLIP-seq
MIRT2466689	hsa-miR-1245b-3p	CLIP-seq
MIRT757550	hsa-miR-1262	CLIP-seq
MIRT757551	hsa-miR-1268	CLIP-seq
MIRT757552	hsa-miR-1268b	CLIP-seq
MIRT2466690	hsa-miR-1289	CLIP-seq
MIRT2466691	hsa-miR-1296	CLIP-seq
MIRT2466692	hsa-miR-139-3p	CLIP-seq
MIRT2466693	hsa-miR-155	CLIP-seq
MIRT2466694	hsa-miR-1587	CLIP-seq
MIRT757555	hsa-miR-1827	CLIP-seq
MIRT757556	hsa-miR-1908	CLIP-seq
MIRT2466695	hsa-miR-202	CLIP-seq
MIRT2466696	hsa-miR-2113	CLIP-seq
MIRT757559	hsa-miR-2114	CLIP-seq
MIRT2466697	hsa-miR-2909	CLIP-seq
MIRT2466698	hsa-miR-3133	CLIP-seq
MIRT2466699	hsa-miR-3158-3p	CLIP-seq
MIRT2466700	hsa-miR-340	CLIP-seq
MIRT757563	hsa-miR-3613-3p	CLIP-seq
MIRT2466701	hsa-miR-3614-5p	CLIP-seq
MIRT2466702	hsa-miR-3647-3p	CLIP-seq
MIRT757565	hsa-miR-3656	CLIP-seq
MIRT2164895	hsa-miR-3659	CLIP-seq
MIRT757568	hsa-miR-3689a-3p	CLIP-seq
MIRT757569	hsa-miR-3689c	CLIP-seq
MIRT2466703	hsa-miR-3713	CLIP-seq
MIRT757570	hsa-miR-371-5p	CLIP-seq
MIRT757571	hsa-miR-371b-5p	CLIP-seq
MIRT757580	hsa-miR-3929	CLIP-seq
MIRT757582	hsa-miR-4252	CLIP-seq
MIRT2466704	hsa-miR-4267	CLIP-seq
MIRT2466705	hsa-miR-4282	CLIP-seq
MIRT757585	hsa-miR-4327	CLIP-seq
MIRT757586	hsa-miR-4419b	CLIP-seq
MIRT2466706	hsa-miR-4446-3p	CLIP-seq
MIRT2466707	hsa-miR-4458	CLIP-seq
MIRT757589	hsa-miR-4459	CLIP-seq
MIRT2466708	hsa-miR-4477a	CLIP-seq
MIRT757590	hsa-miR-4478	CLIP-seq
MIRT2466709	hsa-miR-448	CLIP-seq
MIRT2466710	hsa-miR-4500	CLIP-seq
MIRT2466711	hsa-miR-4517	CLIP-seq
MIRT757592	hsa-miR-4537	CLIP-seq
MIRT757595	hsa-miR-4649-3p	CLIP-seq
MIRT2164902	hsa-miR-4658	CLIP-seq
MIRT2466712	hsa-miR-4674	CLIP-seq
MIRT2466713	hsa-miR-4675	CLIP-seq
MIRT2466714	hsa-miR-4680-3p	CLIP-seq
MIRT757597	hsa-miR-4684-5p	CLIP-seq
MIRT2466715	hsa-miR-4687-3p	CLIP-seq
MIRT757598	hsa-miR-4695-5p	CLIP-seq
MIRT757600	hsa-miR-4701-3p	CLIP-seq
MIRT757601	hsa-miR-4722-5p	CLIP-seq
MIRT757602	hsa-miR-4724-5p	CLIP-seq
MIRT757603	hsa-miR-4728-5p	CLIP-seq
MIRT2466716	hsa-miR-4741	CLIP-seq
MIRT757604	hsa-miR-4768-3p	CLIP-seq
MIRT757606	hsa-miR-4793-3p	CLIP-seq
MIRT757608	hsa-miR-485-5p	CLIP-seq
MIRT2466717	hsa-miR-486-5p	CLIP-seq
MIRT2466718	hsa-miR-488	CLIP-seq
MIRT2466719	hsa-miR-500a	CLIP-seq
MIRT757611	hsa-miR-508-5p	CLIP-seq
MIRT2466720	hsa-miR-518a-5p	CLIP-seq
MIRT2466721	hsa-miR-527	CLIP-seq
MIRT757615	hsa-miR-542-3p	CLIP-seq
MIRT2466722	hsa-miR-544	CLIP-seq
MIRT757616	hsa-miR-550a	CLIP-seq
MIRT2164908	hsa-miR-574-5p	CLIP-seq
MIRT2466723	hsa-miR-599	CLIP-seq
MIRT1923426	hsa-miR-628-5p	CLIP-seq
MIRT2466724	hsa-miR-653	CLIP-seq
MIRT757618	hsa-miR-661	CLIP-seq
MIRT757619	hsa-miR-663	CLIP-seq
MIRT757620	hsa-miR-665	CLIP-seq
MIRT757621	hsa-miR-766	CLIP-seq
MIRT757622	hsa-miR-890	CLIP-seq
MIRT757623	hsa-miR-940	CLIP-seq
MIRT2466725	hsa-miR-98	CLIP-seq
MIRT2466681	hsa-let-7a	CLIP-seq
MIRT2466682	hsa-let-7b	CLIP-seq
MIRT2466683	hsa-let-7c	CLIP-seq
MIRT2466684	hsa-let-7d	CLIP-seq
MIRT2466685	hsa-let-7e	CLIP-seq
MIRT2466686	hsa-let-7f	CLIP-seq
MIRT2466687	hsa-let-7g	CLIP-seq
MIRT2466688	hsa-let-7i	CLIP-seq
MIRT757550	hsa-miR-1262	CLIP-seq
MIRT757551	hsa-miR-1268	CLIP-seq
MIRT757552	hsa-miR-1268b	CLIP-seq
MIRT2466690	hsa-miR-1289	CLIP-seq
MIRT2466691	hsa-miR-1296	CLIP-seq
MIRT757555	hsa-miR-1827	CLIP-seq
MIRT757556	hsa-miR-1908	CLIP-seq
MIRT2466695	hsa-miR-202	CLIP-seq
MIRT757559	hsa-miR-2114	CLIP-seq
MIRT2466697	hsa-miR-2909	CLIP-seq
MIRT2673997	hsa-miR-3143	CLIP-seq
MIRT2466699	hsa-miR-3158-3p	CLIP-seq
MIRT757563	hsa-miR-3613-3p	CLIP-seq
MIRT2466701	hsa-miR-3614-5p	CLIP-seq
MIRT2466702	hsa-miR-3647-3p	CLIP-seq
MIRT757565	hsa-miR-3656	CLIP-seq
MIRT757568	hsa-miR-3689a-3p	CLIP-seq
MIRT757569	hsa-miR-3689c	CLIP-seq
MIRT757570	hsa-miR-371-5p	CLIP-seq
MIRT757571	hsa-miR-371b-5p	CLIP-seq
MIRT757580	hsa-miR-3929	CLIP-seq
MIRT757582	hsa-miR-4252	CLIP-seq
MIRT2466705	hsa-miR-4282	CLIP-seq
MIRT757585	hsa-miR-4327	CLIP-seq
MIRT757586	hsa-miR-4419b	CLIP-seq
MIRT2466706	hsa-miR-4446-3p	CLIP-seq
MIRT2466707	hsa-miR-4458	CLIP-seq
MIRT757589	hsa-miR-4459	CLIP-seq
MIRT757590	hsa-miR-4478	CLIP-seq
MIRT2466709	hsa-miR-448	CLIP-seq
MIRT2466710	hsa-miR-4500	CLIP-seq
MIRT2466711	hsa-miR-4517	CLIP-seq
MIRT757592	hsa-miR-4537	CLIP-seq
MIRT757595	hsa-miR-4649-3p	CLIP-seq
MIRT2466713	hsa-miR-4675	CLIP-seq
MIRT757597	hsa-miR-4684-5p	CLIP-seq
MIRT2466715	hsa-miR-4687-3p	CLIP-seq
MIRT757598	hsa-miR-4695-5p	CLIP-seq
MIRT757600	hsa-miR-4701-3p	CLIP-seq
MIRT757601	hsa-miR-4722-5p	CLIP-seq
MIRT757602	hsa-miR-4724-5p	CLIP-seq
MIRT757603	hsa-miR-4728-5p	CLIP-seq
MIRT2466716	hsa-miR-4741	CLIP-seq
MIRT757604	hsa-miR-4768-3p	CLIP-seq
MIRT757606	hsa-miR-4793-3p	CLIP-seq
MIRT757608	hsa-miR-485-5p	CLIP-seq
MIRT2466718	hsa-miR-488	CLIP-seq
MIRT757611	hsa-miR-508-5p	CLIP-seq
MIRT757615	hsa-miR-542-3p	CLIP-seq
MIRT2466722	hsa-miR-544	CLIP-seq
MIRT757616	hsa-miR-550a	CLIP-seq
MIRT2466724	hsa-miR-653	CLIP-seq
MIRT757618	hsa-miR-661	CLIP-seq
MIRT757619	hsa-miR-663	CLIP-seq
MIRT757620	hsa-miR-665	CLIP-seq
MIRT757621	hsa-miR-766	CLIP-seq
MIRT757622	hsa-miR-890	CLIP-seq
MIRT757623	hsa-miR-940	CLIP-seq
MIRT2466725	hsa-miR-98	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0003714	Function	Transcription corepressor activity	ISS
GO:0003824	Function	Catalytic activity	IEA
GO:0004753	Function	Saccharopine dehydrogenase activity	IBA
GO:0004754	Function	Saccharopine dehydrogenase (NAD+, L-lysine-forming) activity	ISS
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	10567240
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	ISS
GO:0006554	Process	Lysine catabolic process	IEA
GO:0006554	Process	Lysine catabolic process	IMP	10775527
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019477	Process	L-lysine catabolic process	IEA
GO:0033512	Process	L-lysine catabolic process to acetyl-CoA via saccharopine	IEA
GO:0042393	Function	Histone binding	ISS
GO:0047130	Function	Saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	IEA
GO:0047130	Function	Saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	IMP	10775527
GO:0047131	Function	Saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	IEA
GO:0047131	Function	Saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	IMP	10775527

MIM	HGNC	e!Ensembl
605113	17366	ENSG00000008311

Q9UDR5

Protein name

Alpha-aminoadipic semialdehyde synthase, mitochondrial (LKR/SDH) [Includes: Lysine ketoglutarate reductase (LKR) (LOR) (EC 1.5.1.8); Saccharopine dehydrogenase (SDH) (EC 1.5.1.9)]

Protein function

Bifunctional enzyme that catalyzes the first two steps in lysine degradation.

PDB

5L76 , 5L78 , 5O1N , 5O1O , 5O1P , 8DDA , 8E8T , 8E8U , 8E8V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05222	AlaDh_PNT_N	27 → 157	Alanine dehydrogenase/PNT, N-terminal domain	Domain
PF03435	Sacchrp_dh_NADP	483 → 598	Saccharopine dehydrogenase NADP binding domain	Family
PF16653	Sacchrp_dh_C	602 → 916	Saccharopine dehydrogenase C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all 16 tissues examined with highest expression in the liver.

Sequence

MLQVHRTGLGRLGVSLSKGLHHKAVLAVRREDVNAWERRAPLAPKHIKGITNLGYKVLIQ
PSNRRAIHDKDYVKAGGILQEDISEACLILGVKRPPEEKLMSRKTYAFFSHTIKAQEANM
GLLDEILKQEIRLIDYEKMVDHRGVRVVAFGQWAGVAGMINILHGMGLRLLALGHHTPFM
HIGMAHNYRNSSQAVQAVRDAGYEISLGLMPKSIGPLTFVFTGTGNVSKGAQAIFNELPC
EYVEPHELKEVSQTGDLRKVYGTVLSRHHHLVRKTDAVYDPAEYDKHPERYISRFNTDIA
PYTTCLINGIYWEQNTPRLLTRQDAQSLLAPGKFSPAGVEGCPALPHKLVAICDISADTG
GSIEFMTECTTIEHPFCMYDADQHIIHDSVEGSGILMCSIDNLPAQLPIEATECFGDMLY
PYVEEMILSDATQPLESQNFSPVVRDAVITSNGTLPDKYKYIQTLRESRERAQSLSMGTR
RKVLVLGSGYISEPVLEYLSRDGNIEITVGSDMKNQIEQLGKKYNINPVSMDICKQEEKL
GFLVAKQDLVISLLPYVLHPLVAKACITNKVNMVTASYITPALKELEKSVEDAGITIIGE
LGLDPGLDHMLAMETIDKAKEVGATIESYISYCGGLPAPEHSNNPLRYKFSWSPVGVLMN
VMQSATYLLDGKVVNVAGGISFLDAVTSMDFFPGLNLEGYPNRDSTKYAEIYGISSAHTL
LRGTLRYKGYMKALNGFVKLGLINREALPAFRPEANPLTWKQLLCDLVGISPSSEHDVLK
EAVLKKLGGDNTQLEAAEWLGLLGDEQVPQAESILDALSKHLVMKLSYGPEEKDMIVMRD
SFGIRHPSGHLEHKTIDLVAYGDINGFSAMAKTVGLPTAMAAKMLLDGEIGAKGLMGPFS
KEIYGPILERIKAEGIIYTTQSTIKP

Sequence length

926

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways		Lysine catabolism

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
Hyperlysinemia	Likely pathogenic; Pathogenic	rs745643453, rs761154340, rs779793755, rs587777121, rs587777122, rs587777123, rs587777124, rs587777125, rs587777126, rs2150511876, rs1473312640, rs387906333, rs1795110728, rs2485979609	RCV001332668 RCV001353061 RCV001353060 RCV000087042 RCV000087043 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

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.
AASS-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLYSINEMIA, TYPE I	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLYSINEMIAS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Saccharopinuria	Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alpha-Aminoadipic Semialdehyde Deficiency Disease	Alpha-Aminoadipic Semialdehyde Deficiency Disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Citrullinemia	Citrullinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36790478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Histidinuria renal tubular defect	Histidine transport defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlysinemia	Hyperlysinemia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperlysinemia, Periodic	Periodic Hyperlysinemia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlysinemia, type I	Hyperlysinemia	GENOMICS_ENGLAND_DG	10775527, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlysinemia, type I	Hyperlysinemia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlysinemias	Hyperlysinemia	BEFREE	10775527, 23570448		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlysinemias	Hyperlysinemia	CLINGEN_DG	10775527, 23570448, 23890588, 27604308, 27626380, 4385118		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlysinemias	Hyperlysinemia	ORPHANET_DG	10775527, 23570448, 23890588		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlysinemias	Hyperlysinemia	GENOMICS_ENGLAND_DG	10775527, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlysinemias	Hyperlipidemia	Pubtator	10775527, 23570448	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlysinemias	Hyperlysinemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlysinemias	Hyperlysinemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31158378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease	Lysine Alpha-Ketoglutarate Reductase Deficiency Disease	ORPHANET_DG	10775527, 23570448, 23890588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease	Lysine Alpha-Ketoglutarate Reductase Deficiency Disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31158378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Saccharopine dehydrogenase deficiency	Saccharopinuria	ORPHANET_DG	10775527, 23570448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Saccharopine dehydrogenase deficiency	Saccharopinuria	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Saccharopinuria	Saccharopinuria	ORPHANET_DG	10775527, 23570448		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Saccharopinuria	Saccharopinuria	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Saccharopinuria	Saccharopinuria	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Saccharopinuria	Saccharopinuria	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Urogenital Abnormalities	Urogenital Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

AASS (aminoadipate-semialdehyde synthase)