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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84947
Gene name	Serine active site containing 1
Gene symbol	SERAC1
Synonyms (NCBI Gene)	-
Chromosome	6
Chromosome location	6q25.3
Summary	The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and in

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SNP ID	Visualize variation	Clinical significance	Consequence
rs139301835	G>A,C,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, synonymous variant, 5 prime UTR variant, genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs199632531	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs201941476	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs387907236	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs529232938	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained
rs758745099	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs761964407	->ATAG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs767780913	AG>-,AGAG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs768913919	C>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs772296795	GACT>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant, non coding transcript variant
rs780275814	->GATA	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs780783562	TTAC>-,TTACTTAC	Likely-pathogenic	Splice donor variant, intron variant
rs797045105	->CATG	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041750	->AT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057523999	G>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1057524000	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1131690799	C>G	Pathogenic	Intron variant, splice donor variant
rs1199625391	AAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs1220930025	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554260851	GAGTGAATACCTGCTGA>CCTGTTGGT	Likely-pathogenic	Splice donor variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs1554261245	A>G	Likely-pathogenic	Splice donor variant
rs1554265452	A>G	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1562458862	G>A	Pathogenic	Genic upstream transcript variant, intron variant
rs1562458915	C>G	Pathogenic	Genic upstream transcript variant, intron variant
rs1583555500	->T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1583589537	A>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1583595091	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019450	hsa-miR-148b-3p	Microarray	17612493
MIRT021468	hsa-miR-9-5p	Microarray	17612493
MIRT023363	hsa-miR-122-5p	Microarray	17612493
MIRT024800	hsa-miR-215-5p	Microarray	19074876
MIRT026696	hsa-miR-192-5p	Microarray	19074876
MIRT030978	hsa-miR-21-5p	Microarray	18591254
MIRT456495	hsa-miR-556-5p	PAR-CLIP	23592263
MIRT456494	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT456493	hsa-miR-665	PAR-CLIP	23592263
MIRT456491	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT456492	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT456490	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT456489	hsa-miR-610	PAR-CLIP	23592263
MIRT456488	hsa-miR-655-5p	PAR-CLIP	23592263
MIRT456487	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT456485	hsa-miR-6086	PAR-CLIP	23592263
MIRT456486	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT456484	hsa-miR-34b-3p	PAR-CLIP	23592263
MIRT456483	hsa-miR-4310	PAR-CLIP	23592263
MIRT456482	hsa-miR-7157-5p	PAR-CLIP	23592263
MIRT456481	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT456479	hsa-miR-3176	PAR-CLIP	23592263
MIRT456480	hsa-miR-3922-3p	PAR-CLIP	23592263
MIRT456478	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT456477	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT456476	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT456475	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT456474	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT456473	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT456472	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT456471	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT456470	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT456469	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT456468	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT456467	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT456466	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT456465	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT456464	hsa-miR-3689c	PAR-CLIP	23592263
MIRT456463	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT456462	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT456461	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT456460	hsa-miR-3122	PAR-CLIP	23592263
MIRT456459	hsa-miR-3913-5p	PAR-CLIP	23592263
MIRT456458	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT456457	hsa-miR-6513-5p	PAR-CLIP	23592263
MIRT446078	hsa-miR-5007-5p	PAR-CLIP	22100165
MIRT449748	hsa-miR-4635	PAR-CLIP	22100165
MIRT446077	hsa-miR-548ao-5p	PAR-CLIP	22100165
MIRT446076	hsa-miR-548ax	PAR-CLIP	22100165
MIRT446075	hsa-miR-924	PAR-CLIP	22100165
MIRT446078	hsa-miR-5007-5p	PAR-CLIP	22100165
MIRT446077	hsa-miR-548ao-5p	PAR-CLIP	22100165
MIRT446076	hsa-miR-548ax	PAR-CLIP	22100165
MIRT446075	hsa-miR-924	PAR-CLIP	22100165
MIRT456495	hsa-miR-556-5p	PAR-CLIP	23592263
MIRT456494	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT456493	hsa-miR-665	PAR-CLIP	23592263
MIRT456491	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT456492	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT456490	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT456489	hsa-miR-610	PAR-CLIP	23592263
MIRT456488	hsa-miR-655-5p	PAR-CLIP	23592263
MIRT456487	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT456485	hsa-miR-6086	PAR-CLIP	23592263
MIRT456486	hsa-miR-1304-5p	PAR-CLIP	23592263
MIRT456484	hsa-miR-34b-3p	PAR-CLIP	23592263
MIRT456483	hsa-miR-4310	PAR-CLIP	23592263
MIRT456482	hsa-miR-7157-5p	PAR-CLIP	23592263
MIRT456481	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT456479	hsa-miR-3176	PAR-CLIP	23592263
MIRT456480	hsa-miR-3922-3p	PAR-CLIP	23592263
MIRT456478	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT456477	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT456476	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT456475	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT456474	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT456473	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT456472	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT456471	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT456470	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT456469	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT456468	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT456467	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT456466	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT456465	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT456464	hsa-miR-3689c	PAR-CLIP	23592263
MIRT456463	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT456462	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT456461	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT456460	hsa-miR-3122	PAR-CLIP	23592263
MIRT456459	hsa-miR-3913-5p	PAR-CLIP	23592263
MIRT456458	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT456457	hsa-miR-6513-5p	PAR-CLIP	23592263
MIRT446078	hsa-miR-5007-5p	PAR-CLIP	22100165
MIRT449748	hsa-miR-4635	PAR-CLIP	22100165
MIRT446077	hsa-miR-548ao-5p	PAR-CLIP	22100165
MIRT446076	hsa-miR-548ax	PAR-CLIP	22100165
MIRT446075	hsa-miR-924	PAR-CLIP	22100165
MIRT446078	hsa-miR-5007-5p	PAR-CLIP	22100165
MIRT446077	hsa-miR-548ao-5p	PAR-CLIP	22100165
MIRT446076	hsa-miR-548ax	PAR-CLIP	22100165
MIRT446075	hsa-miR-924	PAR-CLIP	22100165
MIRT1337423	hsa-miR-10a	CLIP-seq
MIRT1337424	hsa-miR-10b	CLIP-seq
MIRT1337425	hsa-miR-1237	CLIP-seq
MIRT1337426	hsa-miR-1248	CLIP-seq
MIRT1337427	hsa-miR-1261	CLIP-seq
MIRT1337428	hsa-miR-1264	CLIP-seq
MIRT1337429	hsa-miR-1279	CLIP-seq
MIRT1337430	hsa-miR-128	CLIP-seq
MIRT1337431	hsa-miR-1283	CLIP-seq
MIRT1337432	hsa-miR-1285	CLIP-seq
MIRT1337433	hsa-miR-129-3p	CLIP-seq
MIRT1337434	hsa-miR-139-5p	CLIP-seq
MIRT1337435	hsa-miR-141	CLIP-seq
MIRT1337436	hsa-miR-153	CLIP-seq
MIRT1337437	hsa-miR-155	CLIP-seq
MIRT1337438	hsa-miR-15a	CLIP-seq
MIRT1337439	hsa-miR-15b	CLIP-seq
MIRT1337440	hsa-miR-16	CLIP-seq
MIRT1337441	hsa-miR-186	CLIP-seq
MIRT1337442	hsa-miR-195	CLIP-seq
MIRT1337443	hsa-miR-200a	CLIP-seq
MIRT1337444	hsa-miR-2110	CLIP-seq
MIRT1337445	hsa-miR-2681	CLIP-seq
MIRT1337446	hsa-miR-2682	CLIP-seq
MIRT1337447	hsa-miR-297	CLIP-seq
MIRT1337448	hsa-miR-3074-3p	CLIP-seq
MIRT1337449	hsa-miR-3133	CLIP-seq
MIRT1337450	hsa-miR-3149	CLIP-seq
MIRT1337451	hsa-miR-3150a-3p	CLIP-seq
MIRT1337452	hsa-miR-3170	CLIP-seq
MIRT1337453	hsa-miR-3182	CLIP-seq
MIRT1337454	hsa-miR-3185	CLIP-seq
MIRT1337455	hsa-miR-3187-5p	CLIP-seq
MIRT1337456	hsa-miR-339-5p	CLIP-seq
MIRT1337457	hsa-miR-34c-3p	CLIP-seq
MIRT1337458	hsa-miR-3613-3p	CLIP-seq
MIRT1337459	hsa-miR-3661	CLIP-seq
MIRT1337460	hsa-miR-3667-3p	CLIP-seq
MIRT1337461	hsa-miR-3675-5p	CLIP-seq
MIRT1337462	hsa-miR-3714	CLIP-seq
MIRT1337463	hsa-miR-371-5p	CLIP-seq
MIRT1337464	hsa-miR-3974	CLIP-seq
MIRT1337465	hsa-miR-424	CLIP-seq
MIRT1337466	hsa-miR-4252	CLIP-seq
MIRT1337467	hsa-miR-4260	CLIP-seq
MIRT1337468	hsa-miR-4267	CLIP-seq
MIRT1337469	hsa-miR-4307	CLIP-seq
MIRT1337470	hsa-miR-4421	CLIP-seq
MIRT1337471	hsa-miR-4422	CLIP-seq
MIRT1337472	hsa-miR-4450	CLIP-seq
MIRT1337473	hsa-miR-4453	CLIP-seq
MIRT1337474	hsa-miR-448	CLIP-seq
MIRT1337475	hsa-miR-449c	CLIP-seq
MIRT1337476	hsa-miR-4502	CLIP-seq
MIRT1337477	hsa-miR-4509	CLIP-seq
MIRT1337478	hsa-miR-4538	CLIP-seq
MIRT1337479	hsa-miR-4684-5p	CLIP-seq
MIRT1337480	hsa-miR-4722-3p	CLIP-seq
MIRT1337481	hsa-miR-4725-5p	CLIP-seq
MIRT1337482	hsa-miR-4744	CLIP-seq
MIRT1337483	hsa-miR-4763-5p	CLIP-seq
MIRT1337484	hsa-miR-4766-5p	CLIP-seq
MIRT1337485	hsa-miR-4786-5p	CLIP-seq
MIRT1337486	hsa-miR-4790-3p	CLIP-seq
MIRT1337487	hsa-miR-4793-3p	CLIP-seq
MIRT1337488	hsa-miR-494	CLIP-seq
MIRT1337489	hsa-miR-495	CLIP-seq
MIRT1337490	hsa-miR-497	CLIP-seq
MIRT1337491	hsa-miR-504	CLIP-seq
MIRT1337492	hsa-miR-508-5p	CLIP-seq
MIRT1337493	hsa-miR-548ac	CLIP-seq
MIRT1337494	hsa-miR-548ae	CLIP-seq
MIRT1337495	hsa-miR-548aj	CLIP-seq
MIRT1337496	hsa-miR-548am	CLIP-seq
MIRT1337497	hsa-miR-548c-3p	CLIP-seq
MIRT1337498	hsa-miR-548d-3p	CLIP-seq
MIRT1337499	hsa-miR-548v	CLIP-seq
MIRT1337500	hsa-miR-548x	CLIP-seq
MIRT1337501	hsa-miR-548z	CLIP-seq
MIRT1337502	hsa-miR-550a	CLIP-seq
MIRT1337503	hsa-miR-593	CLIP-seq
MIRT1337504	hsa-miR-612	CLIP-seq
MIRT1337505	hsa-miR-622	CLIP-seq
MIRT1337506	hsa-miR-631	CLIP-seq
MIRT1337507	hsa-miR-635	CLIP-seq
MIRT1337508	hsa-miR-766	CLIP-seq
MIRT1337509	hsa-miR-769-5p	CLIP-seq
MIRT1337510	hsa-miR-888	CLIP-seq
MIRT1337511	hsa-miR-940	CLIP-seq
MIRT1337427	hsa-miR-1261	CLIP-seq
MIRT2099817	hsa-miR-1292	CLIP-seq
MIRT1337441	hsa-miR-186	CLIP-seq
MIRT2099818	hsa-miR-2467-3p	CLIP-seq
MIRT1337445	hsa-miR-2681	CLIP-seq
MIRT1337448	hsa-miR-3074-3p	CLIP-seq
MIRT1337466	hsa-miR-4252	CLIP-seq
MIRT2099819	hsa-miR-4257	CLIP-seq
MIRT1337468	hsa-miR-4267	CLIP-seq
MIRT1337473	hsa-miR-4453	CLIP-seq
MIRT2099820	hsa-miR-4471	CLIP-seq
MIRT1337476	hsa-miR-4502	CLIP-seq
MIRT1337478	hsa-miR-4538	CLIP-seq
MIRT1337486	hsa-miR-4790-3p	CLIP-seq
MIRT1337487	hsa-miR-4793-3p	CLIP-seq
MIRT2099821	hsa-miR-4797-5p	CLIP-seq
MIRT1337492	hsa-miR-508-5p	CLIP-seq
MIRT2099822	hsa-miR-570	CLIP-seq
MIRT1337507	hsa-miR-635	CLIP-seq
MIRT1337508	hsa-miR-766	CLIP-seq
MIRT2324616	hsa-miR-1197	CLIP-seq
MIRT2324617	hsa-miR-1207-3p	CLIP-seq
MIRT2324618	hsa-miR-1233	CLIP-seq
MIRT1337427	hsa-miR-1261	CLIP-seq
MIRT1337429	hsa-miR-1279	CLIP-seq
MIRT2099817	hsa-miR-1292	CLIP-seq
MIRT2324619	hsa-miR-1304	CLIP-seq
MIRT1337441	hsa-miR-186	CLIP-seq
MIRT2324620	hsa-miR-2276	CLIP-seq
MIRT2324621	hsa-miR-23a	CLIP-seq
MIRT2324622	hsa-miR-23b	CLIP-seq
MIRT2324623	hsa-miR-23c	CLIP-seq
MIRT2099818	hsa-miR-2467-3p	CLIP-seq
MIRT1337445	hsa-miR-2681	CLIP-seq
MIRT1337447	hsa-miR-297	CLIP-seq
MIRT1337448	hsa-miR-3074-3p	CLIP-seq
MIRT2324624	hsa-miR-3137	CLIP-seq
MIRT1337450	hsa-miR-3149	CLIP-seq
MIRT2324625	hsa-miR-3179	CLIP-seq
MIRT2324626	hsa-miR-34b	CLIP-seq
MIRT2324627	hsa-miR-3686	CLIP-seq
MIRT1337462	hsa-miR-3714	CLIP-seq
MIRT2324628	hsa-miR-3907	CLIP-seq
MIRT2324629	hsa-miR-3976	CLIP-seq
MIRT1337466	hsa-miR-4252	CLIP-seq
MIRT2099819	hsa-miR-4257	CLIP-seq
MIRT1337468	hsa-miR-4267	CLIP-seq
MIRT2324630	hsa-miR-4433	CLIP-seq
MIRT1337473	hsa-miR-4453	CLIP-seq
MIRT2099820	hsa-miR-4471	CLIP-seq
MIRT2324631	hsa-miR-4497	CLIP-seq
MIRT1337476	hsa-miR-4502	CLIP-seq
MIRT1337478	hsa-miR-4538	CLIP-seq
MIRT2324632	hsa-miR-4772-3p	CLIP-seq
MIRT1337486	hsa-miR-4790-3p	CLIP-seq
MIRT1337487	hsa-miR-4793-3p	CLIP-seq
MIRT2099821	hsa-miR-4797-5p	CLIP-seq
MIRT1337492	hsa-miR-508-5p	CLIP-seq
MIRT2324633	hsa-miR-548a-3p	CLIP-seq
MIRT2324634	hsa-miR-548e	CLIP-seq
MIRT2324635	hsa-miR-548f	CLIP-seq
MIRT2099822	hsa-miR-570	CLIP-seq
MIRT2324636	hsa-miR-576-3p	CLIP-seq
MIRT1337507	hsa-miR-635	CLIP-seq
MIRT2324637	hsa-miR-760	CLIP-seq
MIRT1337508	hsa-miR-766	CLIP-seq
MIRT1337445	hsa-miR-2681	CLIP-seq
MIRT1337448	hsa-miR-3074-3p	CLIP-seq
MIRT2620319	hsa-miR-1252	CLIP-seq
MIRT2620320	hsa-miR-22	CLIP-seq
MIRT1337445	hsa-miR-2681	CLIP-seq
MIRT1337448	hsa-miR-3074-3p	CLIP-seq
MIRT2620321	hsa-miR-3123	CLIP-seq
MIRT2620322	hsa-miR-3154	CLIP-seq
MIRT1337454	hsa-miR-3185	CLIP-seq
MIRT1337458	hsa-miR-3613-3p	CLIP-seq
MIRT2620323	hsa-miR-3622b-5p	CLIP-seq
MIRT1337462	hsa-miR-3714	CLIP-seq
MIRT1337466	hsa-miR-4252	CLIP-seq
MIRT1337468	hsa-miR-4267	CLIP-seq
MIRT1337473	hsa-miR-4453	CLIP-seq
MIRT1337478	hsa-miR-4538	CLIP-seq
MIRT2620324	hsa-miR-4540	CLIP-seq
MIRT2620325	hsa-miR-455-5p	CLIP-seq
MIRT1337487	hsa-miR-4793-3p	CLIP-seq
MIRT2099821	hsa-miR-4797-5p	CLIP-seq
MIRT1337492	hsa-miR-508-5p	CLIP-seq
MIRT1337502	hsa-miR-550a	CLIP-seq
MIRT2099822	hsa-miR-570	CLIP-seq
MIRT1337507	hsa-miR-635	CLIP-seq
MIRT1337508	hsa-miR-766	CLIP-seq
MIRT1337436	hsa-miR-153	CLIP-seq
MIRT2620321	hsa-miR-3123	CLIP-seq
MIRT1337457	hsa-miR-34c-3p	CLIP-seq
MIRT1337458	hsa-miR-3613-3p	CLIP-seq
MIRT1337466	hsa-miR-4252	CLIP-seq
MIRT1337468	hsa-miR-4267	CLIP-seq
MIRT1337469	hsa-miR-4307	CLIP-seq
MIRT1337473	hsa-miR-4453	CLIP-seq
MIRT1337474	hsa-miR-448	CLIP-seq
MIRT1337478	hsa-miR-4538	CLIP-seq
MIRT1337487	hsa-miR-4793-3p	CLIP-seq
MIRT2099821	hsa-miR-4797-5p	CLIP-seq
MIRT1337492	hsa-miR-508-5p	CLIP-seq
MIRT1337507	hsa-miR-635	CLIP-seq
MIRT1337508	hsa-miR-766	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	22683713
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	22683713
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032367	Process	Intracellular cholesterol transport	IMP	22683713
GO:0036148	Process	Phosphatidylglycerol acyl-chain remodeling	IMP	22683713
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	22683713

MIM	HGNC	e!Ensembl
614725	21061	ENSG00000122335

Q96JX3

Protein name

Protein SERAC1 (Serine active site-containing protein 1)

Protein function

Facilitates the transport of serine from the cytosol to the mitochondria by interacting with and stabilizing Sideroflexin-1 (SFXN1), a mitochondrial serine transporter, playing a fundamental role in the one-carbon cycle responsible for the synth

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with predominant expression in skeletal muscle and brain (PubMed:22683713, PubMed:35235340). In the brain, highest levels are found in the frontal and occipital cortices, cerebellum and hippocampus (PubMed:22683713).

Sequence

MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVT
LDTQVVEREKMKSYIYVHTVSLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADP
FSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHHWHDYQYRIIAQACDPKTLIG
LARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQ
SLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQL
LQRLYRLHKDCPKVQRNIMRVIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAA
RILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIHGLMGAAFKTWRQQDSEQAVI
EKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLR
KLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLA
EYSVNIRYLLFPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIK
LHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRTLQFIREALAKDLEN

Sequence length

654

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	Pathogenic; Likely pathogenic	rs2128409409, rs529232938, rs759351997, rs2128410576, rs1131690799, rs1383515185, rs756065709, rs1785136884, rs978448154, rs927446955, rs797045105, rs767780913, rs780275814, rs199632531, rs886041750 View all (23 more)	RCV001542661 RCV000106307 RCV001799538 RCV002032263 RCV001946827 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial oxidative phosphorylation disorder	Likely pathogenic	rs139301835	RCV000616269	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1274076957	RCV005934695	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SERAC1-related disorder	Likely pathogenic; Pathogenic	rs1245168537, rs1554260851, rs201941476	RCV004729146 RCV003889905 RCV003336206	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SERAC1-related neurological disorder	Likely pathogenic	rs2483462219	RCV003890772	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

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.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
3-@METHYLGLUTACONIC ACIDURIA, TYPE V	3-Methylglutaconic aciduria	BEFREE	23296368		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome	3-Methylglutaconic Aciduria With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome	GENOMICS_ENGLAND_DG	16527507, 27186703, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome	3-Methylglutaconic Aciduria With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome	BEFREE	22683713, 23707711, 23918762, 25051967, 25595726, 28778788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	39592976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29205472, 34751152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18460216, 35589867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	25016221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complicated hereditary spastic paraplegia	Spastic paraplegia	BEFREE	28916646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	22683713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	22683713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	29205472	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Disorders	Dystonia	BEFREE	22683713, 28778788		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	40282380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	29205472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28778788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	40282380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	29205472, 34751152, 39592976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lesions in the basal ganglia	Lesions In The Basal Ganglia	GENOMICS_ENGLAND_DG	16527507, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipid Metabolism, Inborn Errors	Lipid Metabolism, Inborn Errors	CTD_human_DG	22683713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	25016221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25016221, 29205472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	25016221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	25016221		★★★★★ ★☆☆☆☆ Found in Text Mining only
MEGDEL syndrome	MEGDEL Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	30909120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34751152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	22683713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	29205472, 34751152, 39592976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SERAC1 (serine active site containing 1)