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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV000087044 RCV000087045 RCV000087046 RCV000087047 RCV001780511 RCV001814810 RCV000005519 RCV003988353 RCV003990841

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
AASS-related disorder	Likely benign; Uncertain significance	rs143442714, rs74882337, rs749306292, rs745523217	RCV003924757 RCV003922699 RCV003925526 RCV003902977
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs1228087763	RCV004560287
Familial cancer of breast	Benign	rs279675	RCV005923334
Gastric cancer	Uncertain significance; Benign	rs369466086, rs73441002	RCV005927255 RCV005901554
Hepatocellular carcinoma	Benign	rs279675	RCV005923335
Saccharopinuria	Uncertain significance	rs140285200, rs1793918338, rs780164559	RCV000765927 RCV001250084 RCV001250073

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Chromosome Deletion	Associate	23570448
Diabetes Mellitus	Associate	36790478
Hyperlysinemias	Associate	10775527, 23570448
Immunologic Deficiency Syndromes	Associate	30767241

AASS (aminoadipate-semialdehyde synthase)