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	10558
Gene name	Serine palmitoyltransferase long chain base subunit 1
Gene symbol	SPTLC1
Synonyms (NCBI Gene)	ALS27HSAN1HSN1LBC1LCB1SPT1SPTI
Chromosome	9
Chromosome location	9q22.31
Summary	This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxo

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SNP ID	Visualize variation	Clinical significance	Consequence
rs119482081	C>T	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs119482082	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs119482083	A>T	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, genic downstream transcript variant
rs267607087	G>A,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs267607088	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs797045071	C>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1197928094	AAG>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, inframe deletion
rs1554716504	T>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant

329

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001411	hsa-miR-16-5p	pSILAC	18668040
MIRT016036	hsa-miR-374b-5p	Sequencing	20371350
MIRT023301	hsa-miR-122-5p	Microarray	17612493
MIRT001411	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT049097	hsa-miR-92a-3p	CLASH	23622248
MIRT049097	hsa-miR-92a-3p	CLASH	23622248
MIRT045166	hsa-miR-186-5p	CLASH	23622248
MIRT554008	hsa-miR-4476	PAR-CLIP	21572407
MIRT554007	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT554006	hsa-miR-518c-5p	PAR-CLIP	21572407
MIRT554005	hsa-miR-326	PAR-CLIP	21572407
MIRT554004	hsa-miR-330-5p	PAR-CLIP	21572407
MIRT554003	hsa-miR-6764-3p	PAR-CLIP	21572407
MIRT554002	hsa-miR-6824-3p	PAR-CLIP	21572407
MIRT554001	hsa-miR-3191-5p	PAR-CLIP	21572407
MIRT554000	hsa-miR-1178-3p	PAR-CLIP	21572407
MIRT726462	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT726461	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT001411	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT726460	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT736437	hsa-miR-1-3p	Microarray	33260781
MIRT554008	hsa-miR-4476	PAR-CLIP	21572407
MIRT554007	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT554006	hsa-miR-518c-5p	PAR-CLIP	21572407
MIRT554005	hsa-miR-326	PAR-CLIP	21572407
MIRT554004	hsa-miR-330-5p	PAR-CLIP	21572407
MIRT554003	hsa-miR-6764-3p	PAR-CLIP	21572407
MIRT554002	hsa-miR-6824-3p	PAR-CLIP	21572407
MIRT554001	hsa-miR-3191-5p	PAR-CLIP	21572407
MIRT554000	hsa-miR-1178-3p	PAR-CLIP	21572407
MIRT1386968	hsa-miR-124	CLIP-seq
MIRT1386969	hsa-miR-15a	CLIP-seq
MIRT1386970	hsa-miR-15b	CLIP-seq
MIRT1386971	hsa-miR-16	CLIP-seq
MIRT1386972	hsa-miR-195	CLIP-seq
MIRT1386973	hsa-miR-2116	CLIP-seq
MIRT1386974	hsa-miR-3173-3p	CLIP-seq
MIRT1386975	hsa-miR-361-3p	CLIP-seq
MIRT1386976	hsa-miR-362-5p	CLIP-seq
MIRT1386977	hsa-miR-3650	CLIP-seq
MIRT1386978	hsa-miR-377	CLIP-seq
MIRT1386979	hsa-miR-3913-3p	CLIP-seq
MIRT1386980	hsa-miR-409-3p	CLIP-seq
MIRT1386981	hsa-miR-424	CLIP-seq
MIRT1386982	hsa-miR-4255	CLIP-seq
MIRT1386983	hsa-miR-4326	CLIP-seq
MIRT1386984	hsa-miR-4330	CLIP-seq
MIRT1386985	hsa-miR-4422	CLIP-seq
MIRT1386986	hsa-miR-4424	CLIP-seq
MIRT1386987	hsa-miR-4428	CLIP-seq
MIRT1386988	hsa-miR-4457	CLIP-seq
MIRT1386989	hsa-miR-4477b	CLIP-seq
MIRT1386990	hsa-miR-4504	CLIP-seq
MIRT1386991	hsa-miR-4521	CLIP-seq
MIRT1386992	hsa-miR-4653-3p	CLIP-seq
MIRT1386993	hsa-miR-4662a-5p	CLIP-seq
MIRT1386994	hsa-miR-4677-5p	CLIP-seq
MIRT1386995	hsa-miR-4684-3p	CLIP-seq
MIRT1386996	hsa-miR-4705	CLIP-seq
MIRT1386997	hsa-miR-4724-5p	CLIP-seq
MIRT1386998	hsa-miR-4777-3p	CLIP-seq
MIRT1386999	hsa-miR-489	CLIP-seq
MIRT1387000	hsa-miR-497	CLIP-seq
MIRT1387001	hsa-miR-500b	CLIP-seq
MIRT1387002	hsa-miR-501-5p	CLIP-seq
MIRT1387003	hsa-miR-506	CLIP-seq
MIRT1387004	hsa-miR-513b	CLIP-seq
MIRT1387005	hsa-miR-520f	CLIP-seq
MIRT1387006	hsa-miR-522	CLIP-seq
MIRT1387007	hsa-miR-542-3p	CLIP-seq
MIRT1387008	hsa-miR-548t	CLIP-seq
MIRT1387009	hsa-miR-875-5p	CLIP-seq
MIRT1387010	hsa-miR-125a-3p	CLIP-seq
MIRT1387011	hsa-miR-2052	CLIP-seq
MIRT1387012	hsa-miR-3545-3p	CLIP-seq
MIRT1387013	hsa-miR-3934	CLIP-seq
MIRT1387014	hsa-miR-4680-5p	CLIP-seq
MIRT1387015	hsa-miR-4763-5p	CLIP-seq
MIRT1387016	hsa-miR-764	CLIP-seq
MIRT2115819	hsa-miR-1207-5p	CLIP-seq
MIRT1386968	hsa-miR-124	CLIP-seq
MIRT2115820	hsa-miR-127-5p	CLIP-seq
MIRT2115821	hsa-miR-145	CLIP-seq
MIRT2115822	hsa-miR-147	CLIP-seq
MIRT1386969	hsa-miR-15a	CLIP-seq
MIRT1386970	hsa-miR-15b	CLIP-seq
MIRT1386971	hsa-miR-16	CLIP-seq
MIRT2115823	hsa-miR-181a	CLIP-seq
MIRT2115824	hsa-miR-181b	CLIP-seq
MIRT2115825	hsa-miR-181c	CLIP-seq
MIRT2115826	hsa-miR-181d	CLIP-seq
MIRT1386972	hsa-miR-195	CLIP-seq
MIRT2115827	hsa-miR-1972	CLIP-seq
MIRT1386973	hsa-miR-2116	CLIP-seq
MIRT2115828	hsa-miR-299-5p	CLIP-seq
MIRT2115829	hsa-miR-3065-5p	CLIP-seq
MIRT2115830	hsa-miR-3121-3p	CLIP-seq
MIRT2115831	hsa-miR-3183	CLIP-seq
MIRT2115832	hsa-miR-3591-5p	CLIP-seq
MIRT2115833	hsa-miR-3613-3p	CLIP-seq
MIRT1386975	hsa-miR-361-3p	CLIP-seq
MIRT1386976	hsa-miR-362-5p	CLIP-seq
MIRT1386977	hsa-miR-3650	CLIP-seq
MIRT2115834	hsa-miR-3688-5p	CLIP-seq
MIRT2115835	hsa-miR-3909	CLIP-seq
MIRT2115836	hsa-miR-3911	CLIP-seq
MIRT1386979	hsa-miR-3913-3p	CLIP-seq
MIRT2115837	hsa-miR-3925-3p	CLIP-seq
MIRT1386980	hsa-miR-409-3p	CLIP-seq
MIRT1386981	hsa-miR-424	CLIP-seq
MIRT2115838	hsa-miR-4262	CLIP-seq
MIRT2115839	hsa-miR-4294	CLIP-seq
MIRT2115840	hsa-miR-4328	CLIP-seq
MIRT1386985	hsa-miR-4422	CLIP-seq
MIRT2115841	hsa-miR-4435	CLIP-seq
MIRT1386988	hsa-miR-4457	CLIP-seq
MIRT2115842	hsa-miR-4459	CLIP-seq
MIRT1386990	hsa-miR-4504	CLIP-seq
MIRT2115843	hsa-miR-4520a-5p	CLIP-seq
MIRT2115844	hsa-miR-4520b-5p	CLIP-seq
MIRT2115845	hsa-miR-4650-5p	CLIP-seq
MIRT1386994	hsa-miR-4677-5p	CLIP-seq
MIRT2115846	hsa-miR-4695-5p	CLIP-seq
MIRT1386996	hsa-miR-4705	CLIP-seq
MIRT2115847	hsa-miR-4717-5p	CLIP-seq
MIRT2115848	hsa-miR-4722-5p	CLIP-seq
MIRT2115849	hsa-miR-4723-3p	CLIP-seq
MIRT1386997	hsa-miR-4724-5p	CLIP-seq
MIRT2115850	hsa-miR-4736	CLIP-seq
MIRT2115851	hsa-miR-4738-3p	CLIP-seq
MIRT2115852	hsa-miR-4753-3p	CLIP-seq
MIRT2115853	hsa-miR-4760-5p	CLIP-seq
MIRT2115854	hsa-miR-4763-3p	CLIP-seq
MIRT1386999	hsa-miR-489	CLIP-seq
MIRT2115855	hsa-miR-495	CLIP-seq
MIRT1387000	hsa-miR-497	CLIP-seq
MIRT1387001	hsa-miR-500b	CLIP-seq
MIRT1387002	hsa-miR-501-5p	CLIP-seq
MIRT1387003	hsa-miR-506	CLIP-seq
MIRT1387004	hsa-miR-513b	CLIP-seq
MIRT1387006	hsa-miR-522	CLIP-seq
MIRT2115856	hsa-miR-526b	CLIP-seq
MIRT1387007	hsa-miR-542-3p	CLIP-seq
MIRT2115857	hsa-miR-543	CLIP-seq
MIRT2115858	hsa-miR-548l	CLIP-seq
MIRT2115859	hsa-miR-548n	CLIP-seq
MIRT2115860	hsa-miR-564	CLIP-seq
MIRT2115861	hsa-miR-627	CLIP-seq
MIRT2115862	hsa-miR-644	CLIP-seq
MIRT2115863	hsa-miR-653	CLIP-seq
MIRT1387009	hsa-miR-875-5p	CLIP-seq
MIRT2115864	hsa-miR-924	CLIP-seq
MIRT2338380	hsa-miR-1236	CLIP-seq
MIRT1386968	hsa-miR-124	CLIP-seq
MIRT1386969	hsa-miR-15a	CLIP-seq
MIRT1386970	hsa-miR-15b	CLIP-seq
MIRT1386971	hsa-miR-16	CLIP-seq
MIRT1386972	hsa-miR-195	CLIP-seq
MIRT1386973	hsa-miR-2116	CLIP-seq
MIRT2115833	hsa-miR-3613-3p	CLIP-seq
MIRT2338381	hsa-miR-3616-5p	CLIP-seq
MIRT1386976	hsa-miR-362-5p	CLIP-seq
MIRT2338382	hsa-miR-3647-5p	CLIP-seq
MIRT1386977	hsa-miR-3650	CLIP-seq
MIRT1386978	hsa-miR-377	CLIP-seq
MIRT1386979	hsa-miR-3913-3p	CLIP-seq
MIRT1386980	hsa-miR-409-3p	CLIP-seq
MIRT1386981	hsa-miR-424	CLIP-seq
MIRT1386982	hsa-miR-4255	CLIP-seq
MIRT1386983	hsa-miR-4326	CLIP-seq
MIRT1386985	hsa-miR-4422	CLIP-seq
MIRT1386988	hsa-miR-4457	CLIP-seq
MIRT2338383	hsa-miR-4470	CLIP-seq
MIRT1386990	hsa-miR-4504	CLIP-seq
MIRT1386991	hsa-miR-4521	CLIP-seq
MIRT1386994	hsa-miR-4677-5p	CLIP-seq
MIRT1386995	hsa-miR-4684-3p	CLIP-seq
MIRT1386996	hsa-miR-4705	CLIP-seq
MIRT1386998	hsa-miR-4777-3p	CLIP-seq
MIRT2338384	hsa-miR-4781-3p	CLIP-seq
MIRT2338385	hsa-miR-4789-3p	CLIP-seq
MIRT2338386	hsa-miR-4795-5p	CLIP-seq
MIRT1386999	hsa-miR-489	CLIP-seq
MIRT1387000	hsa-miR-497	CLIP-seq
MIRT1387001	hsa-miR-500b	CLIP-seq
MIRT1387002	hsa-miR-501-5p	CLIP-seq
MIRT1387003	hsa-miR-506	CLIP-seq
MIRT1387004	hsa-miR-513b	CLIP-seq
MIRT1387006	hsa-miR-522	CLIP-seq
MIRT1387007	hsa-miR-542-3p	CLIP-seq
MIRT2338387	hsa-miR-573	CLIP-seq
MIRT2115863	hsa-miR-653	CLIP-seq
MIRT2338388	hsa-miR-875-3p	CLIP-seq
MIRT1387009	hsa-miR-875-5p	CLIP-seq
MIRT2338389	hsa-miR-877	CLIP-seq
MIRT1386973	hsa-miR-2116	CLIP-seq
MIRT1386994	hsa-miR-4677-5p	CLIP-seq
MIRT2115852	hsa-miR-4753-3p	CLIP-seq
MIRT2433525	hsa-miR-137	CLIP-seq
MIRT2433526	hsa-miR-3920	CLIP-seq
MIRT2433527	hsa-miR-4762-3p	CLIP-seq
MIRT2433528	hsa-miR-944	CLIP-seq
MIRT2460499	hsa-miR-122	CLIP-seq
MIRT2460500	hsa-miR-1307	CLIP-seq
MIRT2460501	hsa-miR-3135b	CLIP-seq
MIRT2460502	hsa-miR-3149	CLIP-seq
MIRT2460503	hsa-miR-3622b-5p	CLIP-seq
MIRT2460504	hsa-miR-3652	CLIP-seq
MIRT2460505	hsa-miR-411	CLIP-seq
MIRT2460506	hsa-miR-4284	CLIP-seq
MIRT2460507	hsa-miR-4423-5p	CLIP-seq
MIRT2460508	hsa-miR-4430	CLIP-seq
MIRT2460509	hsa-miR-4638-5p	CLIP-seq
MIRT2460510	hsa-miR-4695-3p	CLIP-seq
MIRT2460511	hsa-miR-4735-5p	CLIP-seq
MIRT2460512	hsa-miR-4772-3p	CLIP-seq
MIRT2460513	hsa-miR-4775	CLIP-seq
MIRT2460514	hsa-miR-590-3p	CLIP-seq
MIRT2115819	hsa-miR-1207-5p	CLIP-seq
MIRT2631945	hsa-miR-1238	CLIP-seq
MIRT2631946	hsa-miR-1343	CLIP-seq
MIRT2115822	hsa-miR-147	CLIP-seq
MIRT2115827	hsa-miR-1972	CLIP-seq
MIRT1386973	hsa-miR-2116	CLIP-seq
MIRT2631947	hsa-miR-3119	CLIP-seq
MIRT2631948	hsa-miR-3168	CLIP-seq
MIRT2631949	hsa-miR-3177-5p	CLIP-seq
MIRT2115831	hsa-miR-3183	CLIP-seq
MIRT2115832	hsa-miR-3591-5p	CLIP-seq
MIRT2631950	hsa-miR-3671	CLIP-seq
MIRT2115834	hsa-miR-3688-5p	CLIP-seq
MIRT2631951	hsa-miR-369-3p	CLIP-seq
MIRT2631952	hsa-miR-374a	CLIP-seq
MIRT2631953	hsa-miR-374b	CLIP-seq
MIRT2631954	hsa-miR-378g	CLIP-seq
MIRT2115835	hsa-miR-3909	CLIP-seq
MIRT2115836	hsa-miR-3911	CLIP-seq
MIRT1386979	hsa-miR-3913-3p	CLIP-seq
MIRT2631955	hsa-miR-4263	CLIP-seq
MIRT2631956	hsa-miR-4277	CLIP-seq
MIRT2631957	hsa-miR-4281	CLIP-seq
MIRT2115839	hsa-miR-4294	CLIP-seq
MIRT2115841	hsa-miR-4435	CLIP-seq
MIRT2631958	hsa-miR-4449	CLIP-seq
MIRT2115842	hsa-miR-4459	CLIP-seq
MIRT2115843	hsa-miR-4520a-5p	CLIP-seq
MIRT2115844	hsa-miR-4520b-5p	CLIP-seq
MIRT2631959	hsa-miR-4522	CLIP-seq
MIRT2631960	hsa-miR-4532	CLIP-seq
MIRT2115845	hsa-miR-4650-5p	CLIP-seq
MIRT2631961	hsa-miR-4666-3p	CLIP-seq
MIRT1386994	hsa-miR-4677-5p	CLIP-seq
MIRT2115846	hsa-miR-4695-5p	CLIP-seq
MIRT2115847	hsa-miR-4717-5p	CLIP-seq
MIRT2115848	hsa-miR-4722-5p	CLIP-seq
MIRT2115849	hsa-miR-4723-3p	CLIP-seq
MIRT2115850	hsa-miR-4736	CLIP-seq
MIRT2115852	hsa-miR-4753-3p	CLIP-seq
MIRT2115853	hsa-miR-4760-5p	CLIP-seq
MIRT2115854	hsa-miR-4763-3p	CLIP-seq
MIRT1386999	hsa-miR-489	CLIP-seq
MIRT2631962	hsa-miR-518a-5p	CLIP-seq
MIRT2115856	hsa-miR-526b	CLIP-seq
MIRT2631963	hsa-miR-527	CLIP-seq
MIRT2631964	hsa-miR-548c-3p	CLIP-seq
MIRT2631965	hsa-miR-561	CLIP-seq
MIRT2631966	hsa-miR-576-3p	CLIP-seq
MIRT2631967	hsa-miR-607	CLIP-seq
MIRT2631968	hsa-miR-616	CLIP-seq
MIRT2115861	hsa-miR-627	CLIP-seq
MIRT2115862	hsa-miR-644	CLIP-seq
MIRT2631969	hsa-miR-648	CLIP-seq
MIRT2115864	hsa-miR-924	CLIP-seq
MIRT2115819	hsa-miR-1207-5p	CLIP-seq
MIRT2631945	hsa-miR-1238	CLIP-seq
MIRT2631946	hsa-miR-1343	CLIP-seq
MIRT2115822	hsa-miR-147	CLIP-seq
MIRT2115827	hsa-miR-1972	CLIP-seq
MIRT1386973	hsa-miR-2116	CLIP-seq
MIRT2631947	hsa-miR-3119	CLIP-seq
MIRT2631948	hsa-miR-3168	CLIP-seq
MIRT2631949	hsa-miR-3177-5p	CLIP-seq
MIRT2115831	hsa-miR-3183	CLIP-seq
MIRT2691939	hsa-miR-34b	CLIP-seq
MIRT2115832	hsa-miR-3591-5p	CLIP-seq
MIRT2631950	hsa-miR-3671	CLIP-seq
MIRT2115834	hsa-miR-3688-5p	CLIP-seq
MIRT2631951	hsa-miR-369-3p	CLIP-seq
MIRT2631952	hsa-miR-374a	CLIP-seq
MIRT2631953	hsa-miR-374b	CLIP-seq
MIRT2631954	hsa-miR-378g	CLIP-seq
MIRT2115835	hsa-miR-3909	CLIP-seq
MIRT2115836	hsa-miR-3911	CLIP-seq
MIRT1386979	hsa-miR-3913-3p	CLIP-seq
MIRT2631955	hsa-miR-4263	CLIP-seq
MIRT2631956	hsa-miR-4277	CLIP-seq
MIRT2631957	hsa-miR-4281	CLIP-seq
MIRT2115839	hsa-miR-4294	CLIP-seq
MIRT2115841	hsa-miR-4435	CLIP-seq
MIRT2631958	hsa-miR-4449	CLIP-seq
MIRT2115842	hsa-miR-4459	CLIP-seq
MIRT2115843	hsa-miR-4520a-5p	CLIP-seq
MIRT2115844	hsa-miR-4520b-5p	CLIP-seq
MIRT2631959	hsa-miR-4522	CLIP-seq
MIRT2631960	hsa-miR-4532	CLIP-seq
MIRT2115845	hsa-miR-4650-5p	CLIP-seq
MIRT2631961	hsa-miR-4666-3p	CLIP-seq
MIRT1386994	hsa-miR-4677-5p	CLIP-seq
MIRT2115846	hsa-miR-4695-5p	CLIP-seq
MIRT2115847	hsa-miR-4717-5p	CLIP-seq
MIRT2115848	hsa-miR-4722-5p	CLIP-seq
MIRT2115849	hsa-miR-4723-3p	CLIP-seq
MIRT2115850	hsa-miR-4736	CLIP-seq
MIRT2115852	hsa-miR-4753-3p	CLIP-seq
MIRT2115853	hsa-miR-4760-5p	CLIP-seq
MIRT2115854	hsa-miR-4763-3p	CLIP-seq
MIRT1386999	hsa-miR-489	CLIP-seq
MIRT2631962	hsa-miR-518a-5p	CLIP-seq
MIRT2115856	hsa-miR-526b	CLIP-seq
MIRT2631963	hsa-miR-527	CLIP-seq
MIRT2631964	hsa-miR-548c-3p	CLIP-seq
MIRT2631965	hsa-miR-561	CLIP-seq
MIRT2631966	hsa-miR-576-3p	CLIP-seq
MIRT2631967	hsa-miR-607	CLIP-seq
MIRT2631968	hsa-miR-616	CLIP-seq
MIRT2115861	hsa-miR-627	CLIP-seq
MIRT2115862	hsa-miR-644	CLIP-seq
MIRT2631969	hsa-miR-648	CLIP-seq
MIRT2115864	hsa-miR-924	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004758	Function	Serine C-palmitoyltransferase activity	IBA
GO:0004758	Function	Serine C-palmitoyltransferase activity	IDA	25332431, 25691431
GO:0004758	Function	Serine C-palmitoyltransferase activity	IDA	19416851
GO:0004758	Function	Serine C-palmitoyltransferase activity	IEA
GO:0004758	Function	Serine C-palmitoyltransferase activity	TAS	9363775
GO:0005515	Function	Protein binding	IPI	19416851, 20182505, 32814053, 33558761, 35271311
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	33558761
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	TAS	9363775
GO:0006686	Process	Sphingomyelin biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0017059	Component	Serine palmitoyltransferase complex	IDA	19416851, 20182505, 25691431
GO:0017059	Component	Serine palmitoyltransferase complex	IPI	19416851, 33558761
GO:0030148	Process	Sphingolipid biosynthetic process	IDA	25332431
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS	19416851
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0043604	Process	Amide biosynthetic process	IEA
GO:0046511	Process	Sphinganine biosynthetic process	IEA
GO:0046512	Process	Sphingosine biosynthetic process	IBA
GO:0046512	Process	Sphingosine biosynthetic process	IDA	19416851, 33558761
GO:0046512	Process	Sphingosine biosynthetic process	IEA
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IDA	25691431
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:1904504	Process	Positive regulation of lipophagy	IDA	25332431
GO:1904649	Process	Regulation of fat cell apoptotic process	IEA
GO:1904649	Process	Regulation of fat cell apoptotic process	ISS

MIM	HGNC	e!Ensembl
605712	11277	ENSG00000090054

O15269

Protein name

Serine palmitoyltransferase 1 (EC 2.3.1.50) (Long chain base biosynthesis protein 1) (LCB 1) (Serine-palmitoyl-CoA transferase 1) (SPT 1) (SPT1)

Protein function

Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain

PDB

6M4N , 6M4O , 7CQI , 7CQK , 7K0I , 7K0J , 7K0K , 7K0L , 7K0M , 7K0N , 7K0O , 7K0P , 7K0Q , 7YIU , 7YIY , 7YJ1 , 7YJ2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00155	Aminotran_1_2	98 → 464	Aminotransferase class I and II	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Not detected in small intestine. {ECO:0000269|PubMed:17023427}.

Sequence

MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEEL
IEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAA
ALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSK
RGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRR
FIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDI
DLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENP
GIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCM
NRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL

Sequence length

473

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway		Sphingolipid de novo biosynthesis

535

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis	Likely pathogenic	rs2118840030	RCV001579316
Amyotrophic lateral sclerosis 27, juvenile	Pathogenic; Likely pathogenic	rs1478177125, rs879254294, rs267607087, rs1554716504, rs1197928094, rs2118840030	RCV003152660 RCV003223342 RCV003152600 RCV003152607 RCV003152613 RCV003152625
Charcot-Marie-Tooth disease	Pathogenic; Likely pathogenic	rs119482081, rs119482083, rs119482082, rs267607087	RCV001027483 RCV001174070 RCV001174071 RCV000790228
EMG abnormality	Likely pathogenic; Pathogenic	rs1197928094	RCV002468610
Falls	Likely pathogenic; Pathogenic	rs1197928094	RCV002468610
Hereditary sensory and autonomic neuropathy type 1	Likely pathogenic; Pathogenic	rs119482081, rs119482083, rs119482082, rs797045071, rs267607087, rs1554706429, rs1197928094	RCV002601672 RCV000005067 RCV000005068 RCV000005070 RCV000191132 RCV000795948 RCV000557521 RCV001858688
Muscle spasm	Likely pathogenic; Pathogenic	rs1197928094	RCV002468610
Neuropathy, hereditary sensory and autonomic, type 1A	Likely pathogenic; Pathogenic	rs2118448441, rs119482081, rs119482083, rs119482082, rs267607087, rs879254294, rs1554716504, rs1197928094	RCV001754569 RCV001249800 RCV001249799 RCV001249798 RCV003223389 RCV004594033 RCV001267702 RCV000988188
Neuropathy, hereditary sensory and autonomic, type IA, severe	Pathogenic	rs267607087	RCV000005071 RCV001249813
Proximal lower limb amyotrophy	Likely pathogenic; Pathogenic	rs1197928094	RCV002468610
Proximal muscle weakness	Likely pathogenic; Pathogenic	rs1197928094	RCV002468610
Ritscher-Schinzel syndrome 4	Pathogenic	rs879254294	RCV005860050
Sensorimotor neuropathy	Pathogenic	rs119482082	RCV001004021
SPTLC1-related disorder	Likely pathogenic; Pathogenic	rs119482083	RCV004755711

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs776829771	RCV005901625
Childhood onset hearing loss	Uncertain significance	rs1391275819	RCV001328035
Gastric cancer	Uncertain significance	rs768829356, rs772495738	RCV005931400 RCV005912369
Hepatocellular carcinoma	Uncertain significance	rs768829356	RCV005931399
Malignant tumor of urinary bladder	Benign; Likely benign	rs189582528	RCV005900600
Microcephaly	Uncertain significance	rs772495738	RCV001252775
Thymoma	Benign	rs7035964	RCV005900599

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	34059824, 34459874, 35627278, 36966328, 38041684
Amyotrophic Lateral Sclerosis 2 Juvenile	Associate	34459874, 36966328
Brain Neoplasms	Associate	16968971
Cataract	Associate	23454272
Cognition Disorders	Associate	35627278
Coronary Artery Disease	Associate	37298446
COVID 19	Associate	35682988
COVID 19	Inhibit	38257736
Dementia	Associate	23365052
Diabetes Mellitus	Stimulate	35184720
Failure to Thrive	Associate	34459874
Genetic Diseases Inborn	Associate	24175284
Glioma	Associate	16968971
Growth Disorders	Associate	23454272
Hearing Loss	Associate	23365052, 34837038
Heart Valve Diseases	Associate	37298446
Hereditary Sensory and Autonomic Neuropathies	Associate	11479835, 14990347, 19651702, 21618344, 22302274, 23454272, 24175284, 25567748, 26681808, 34059824, 34337561, 34459874, 35627278, 35904184, 37107689
Heredodegenerative Disorders Nervous System	Associate	34103343
Inflammation	Associate	19592499, 35627278
Joint Instability	Associate	23454272
Motor Neuron Disease	Associate	35904184, 38041684
Muscle Hypotonia	Associate	23454272
Muscle Neoplasms	Associate	35627278
Muscular Atrophy	Associate	23454272
Neoplasms	Associate	25354783
Nervous System Diseases	Associate	34103343, 35627278
Neurodegenerative Diseases	Associate	14990347
Neurotoxicity Syndromes	Associate	24175284
Obesity	Associate	35184720
Osler rendu weber syndrome 2	Associate	37107689
Peripheral Nervous System Diseases	Associate	35904184, 37107689
Retinal Diseases	Associate	37107689
Sensation Disorders	Associate	23454272
Sensorimotor neuropathy with ataxia autosomal dominant	Associate	11479835

SPTLC1 (serine palmitoyltransferase long chain base subunit 1)