SLC1A4 (solute carrier family 1 member 4)

Gene

• Entrez ID: 6509
• Gene name: Solute carrier family 1 member 4
• Gene symbol: SLC1A4
• Synonyms (NCBI Gene): ASCT1, SATT, SPATCCM
• Chromosome: 2
• Chromosome location: 2p14
• Summary: The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001595	hsa-let-7b-5p	pSILAC	18668040
MIRT017309	hsa-miR-335-5p	Microarray	18185580
MIRT022372	hsa-miR-124-3p	Microarray	18668037
MIRT024856	hsa-miR-215-5p	Microarray	19074876
MIRT026286	hsa-miR-192-5p	Microarray	19074876
MIRT001595	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT042374	hsa-miR-484	CLASH	23622248
MIRT039636	hsa-miR-615-3p	CLASH	23622248
MIRT650609	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT650608	hsa-miR-4801	HITS-CLIP	23824327
MIRT614609	hsa-miR-8485	HITS-CLIP	23824327
MIRT628935	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628934	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628933	hsa-miR-603	HITS-CLIP	23824327
MIRT614608	hsa-miR-4643	HITS-CLIP	23824327
MIRT628931	hsa-miR-3941	HITS-CLIP	23824327
MIRT628930	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT614607	hsa-miR-448	HITS-CLIP	23824327
MIRT614609	hsa-miR-8485	HITS-CLIP	23824327
MIRT628935	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628934	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628933	hsa-miR-603	HITS-CLIP	23824327
MIRT614608	hsa-miR-4643	HITS-CLIP	23824327
MIRT628931	hsa-miR-3941	HITS-CLIP	23824327
MIRT614607	hsa-miR-448	HITS-CLIP	23824327
MIRT614609	hsa-miR-8485	HITS-CLIP	23824327
MIRT628935	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628934	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628933	hsa-miR-603	HITS-CLIP	23824327
MIRT614608	hsa-miR-4643	HITS-CLIP	23824327
MIRT628932	hsa-miR-1284	HITS-CLIP	23824327
MIRT628931	hsa-miR-3941	HITS-CLIP	23824327
MIRT628930	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT614607	hsa-miR-448	HITS-CLIP	23824327
MIRT614609	hsa-miR-8485	HITS-CLIP	23824327
MIRT614608	hsa-miR-4643	HITS-CLIP	23824327
MIRT614607	hsa-miR-448	HITS-CLIP	23824327
MIRT614609	hsa-miR-8485	HITS-CLIP	23824327
MIRT614608	hsa-miR-4643	HITS-CLIP	23824327
MIRT614607	hsa-miR-448	HITS-CLIP	23824327
MIRT532364	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT532363	hsa-miR-128-3p	PAR-CLIP	22012620
MIRT532362	hsa-miR-216a-3p	PAR-CLIP	22012620
MIRT532361	hsa-miR-3681-3p	PAR-CLIP	22012620
MIRT532360	hsa-miR-7114-5p	PAR-CLIP	22012620
MIRT532359	hsa-miR-4786-5p	PAR-CLIP	22012620
MIRT532358	hsa-miR-3619-3p	PAR-CLIP	22012620
MIRT532357	hsa-miR-7974	PAR-CLIP	22012620
MIRT532356	hsa-miR-3138	PAR-CLIP	22012620
MIRT532354	hsa-miR-4800-5p	PAR-CLIP	22012620
MIRT532355	hsa-miR-4776-5p	PAR-CLIP	22012620
MIRT650609	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT650608	hsa-miR-4801	HITS-CLIP	23824327
MIRT614609	hsa-miR-8485	HITS-CLIP	23824327
MIRT628935	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628934	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628933	hsa-miR-603	HITS-CLIP	23824327
MIRT614608	hsa-miR-4643	HITS-CLIP	23824327
MIRT628931	hsa-miR-3941	HITS-CLIP	23824327
MIRT628930	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT614607	hsa-miR-448	HITS-CLIP	23824327
MIRT614609	hsa-miR-8485	HITS-CLIP	23824327
MIRT628935	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628934	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628933	hsa-miR-603	HITS-CLIP	23824327
MIRT614608	hsa-miR-4643	HITS-CLIP	23824327
MIRT628931	hsa-miR-3941	HITS-CLIP	23824327
MIRT614607	hsa-miR-448	HITS-CLIP	23824327
MIRT614609	hsa-miR-8485	HITS-CLIP	23824327
MIRT628935	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT628934	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT628933	hsa-miR-603	HITS-CLIP	23824327
MIRT614608	hsa-miR-4643	HITS-CLIP	23824327
MIRT628932	hsa-miR-1284	HITS-CLIP	23824327
MIRT628931	hsa-miR-3941	HITS-CLIP	23824327
MIRT628930	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT614607	hsa-miR-448	HITS-CLIP	23824327
MIRT614609	hsa-miR-8485	HITS-CLIP	23824327
MIRT614608	hsa-miR-4643	HITS-CLIP	23824327
MIRT614607	hsa-miR-448	HITS-CLIP	23824327
MIRT614609	hsa-miR-8485	HITS-CLIP	23824327
MIRT614608	hsa-miR-4643	HITS-CLIP	23824327
MIRT614607	hsa-miR-448	HITS-CLIP	23824327
MIRT532364	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT532363	hsa-miR-128-3p	PAR-CLIP	22012620
MIRT532362	hsa-miR-216a-3p	PAR-CLIP	22012620
MIRT532361	hsa-miR-3681-3p	PAR-CLIP	22012620
MIRT532360	hsa-miR-7114-5p	PAR-CLIP	22012620
MIRT532359	hsa-miR-4786-5p	PAR-CLIP	22012620
MIRT532358	hsa-miR-3619-3p	PAR-CLIP	22012620
MIRT532357	hsa-miR-7974	PAR-CLIP	22012620
MIRT532356	hsa-miR-3138	PAR-CLIP	22012620
MIRT532354	hsa-miR-4800-5p	PAR-CLIP	22012620
MIRT532355	hsa-miR-4776-5p	PAR-CLIP	22012620
MIRT1354064	hsa-miR-1	CLIP-seq
MIRT1354065	hsa-miR-1273e	CLIP-seq
MIRT1354066	hsa-miR-1303	CLIP-seq
MIRT1354067	hsa-miR-1305	CLIP-seq
MIRT1354068	hsa-miR-135a	CLIP-seq
MIRT1354069	hsa-miR-135b	CLIP-seq
MIRT1354070	hsa-miR-141	CLIP-seq
MIRT1354071	hsa-miR-1825	CLIP-seq
MIRT1354072	hsa-miR-1913	CLIP-seq
MIRT1354073	hsa-miR-1915	CLIP-seq
MIRT1354074	hsa-miR-1972	CLIP-seq
MIRT1354075	hsa-miR-200a	CLIP-seq
MIRT1354076	hsa-miR-206	CLIP-seq
MIRT1354077	hsa-miR-2355-5p	CLIP-seq
MIRT1354078	hsa-miR-27a	CLIP-seq
MIRT1354079	hsa-miR-27b	CLIP-seq
MIRT1354080	hsa-miR-3123	CLIP-seq
MIRT1354081	hsa-miR-3150a-3p	CLIP-seq
MIRT1354082	hsa-miR-3173-3p	CLIP-seq
MIRT1354083	hsa-miR-3175	CLIP-seq
MIRT1354084	hsa-miR-324-3p	CLIP-seq
MIRT1354085	hsa-miR-361-3p	CLIP-seq
MIRT1354086	hsa-miR-3622a-3p	CLIP-seq
MIRT1354087	hsa-miR-3622b-3p	CLIP-seq
MIRT1354088	hsa-miR-3673	CLIP-seq
MIRT1354089	hsa-miR-3689a-3p	CLIP-seq
MIRT1354090	hsa-miR-3689c	CLIP-seq
MIRT1354091	hsa-miR-371-3p	CLIP-seq
MIRT1354092	hsa-miR-3920	CLIP-seq
MIRT1354093	hsa-miR-3925-5p	CLIP-seq
MIRT1354094	hsa-miR-3936	CLIP-seq
MIRT1354095	hsa-miR-4267	CLIP-seq
MIRT1354096	hsa-miR-4300	CLIP-seq
MIRT1354097	hsa-miR-4421	CLIP-seq
MIRT1354098	hsa-miR-4457	CLIP-seq
MIRT1354099	hsa-miR-4463	CLIP-seq
MIRT1354100	hsa-miR-4505	CLIP-seq
MIRT1354101	hsa-miR-4533	CLIP-seq
MIRT1354102	hsa-miR-4650-5p	CLIP-seq
MIRT1354103	hsa-miR-4667-5p	CLIP-seq
MIRT1354104	hsa-miR-4695-5p	CLIP-seq
MIRT1354105	hsa-miR-4700-5p	CLIP-seq
MIRT1354106	hsa-miR-4713-5p	CLIP-seq
MIRT1354107	hsa-miR-4728-5p	CLIP-seq
MIRT1354108	hsa-miR-4731-5p	CLIP-seq
MIRT1354109	hsa-miR-4747-5p	CLIP-seq
MIRT1354110	hsa-miR-4760-5p	CLIP-seq
MIRT1354111	hsa-miR-4768-3p	CLIP-seq
MIRT1354112	hsa-miR-513a-5p	CLIP-seq
MIRT1354113	hsa-miR-545	CLIP-seq
MIRT1354114	hsa-miR-548n	CLIP-seq
MIRT1354115	hsa-miR-548t	CLIP-seq
MIRT1354116	hsa-miR-589	CLIP-seq
MIRT1354117	hsa-miR-613	CLIP-seq
MIRT1354118	hsa-miR-649	CLIP-seq
MIRT1354119	hsa-miR-920	CLIP-seq
MIRT1354120	hsa-miR-939	CLIP-seq
MIRT1354121	hsa-miR-1257	CLIP-seq
MIRT1354122	hsa-miR-1292	CLIP-seq
MIRT1354070	hsa-miR-141	CLIP-seq
MIRT1354075	hsa-miR-200a	CLIP-seq
MIRT1354123	hsa-miR-203	CLIP-seq
MIRT1354124	hsa-miR-3144-5p	CLIP-seq
MIRT1354081	hsa-miR-3150a-3p	CLIP-seq
MIRT1354125	hsa-miR-3157-5p	CLIP-seq
MIRT1354083	hsa-miR-3175	CLIP-seq
MIRT1354126	hsa-miR-3649	CLIP-seq
MIRT1354127	hsa-miR-3661	CLIP-seq
MIRT1354128	hsa-miR-3690	CLIP-seq
MIRT1354096	hsa-miR-4300	CLIP-seq
MIRT1354129	hsa-miR-4471	CLIP-seq
MIRT1354130	hsa-miR-4638-3p	CLIP-seq
MIRT1354131	hsa-miR-4646-5p	CLIP-seq
MIRT1354103	hsa-miR-4667-5p	CLIP-seq
MIRT1354132	hsa-miR-4691-3p	CLIP-seq
MIRT1354105	hsa-miR-4700-5p	CLIP-seq
MIRT1354133	hsa-miR-4802-3p	CLIP-seq
MIRT1354134	hsa-miR-490-5p	CLIP-seq
MIRT1354135	hsa-miR-492	CLIP-seq
MIRT1354136	hsa-miR-5095	CLIP-seq
MIRT1354137	hsa-miR-619	CLIP-seq
MIRT1354138	hsa-miR-631	CLIP-seq
MIRT1354118	hsa-miR-649	CLIP-seq
MIRT1354119	hsa-miR-920	CLIP-seq
MIRT1354120	hsa-miR-939	CLIP-seq
MIRT2104747	hsa-miR-376c	CLIP-seq
MIRT2104748	hsa-miR-4253	CLIP-seq
MIRT2104749	hsa-miR-4761-3p	CLIP-seq
MIRT1354114	hsa-miR-548n	CLIP-seq
MIRT1354115	hsa-miR-548t	CLIP-seq
MIRT2329315	hsa-let-7a	CLIP-seq
MIRT2329316	hsa-let-7b	CLIP-seq
MIRT2329317	hsa-let-7c	CLIP-seq
MIRT2329318	hsa-let-7d	CLIP-seq
MIRT2329319	hsa-let-7e	CLIP-seq
MIRT2329320	hsa-let-7f	CLIP-seq
MIRT2329321	hsa-let-7g	CLIP-seq
MIRT2329322	hsa-let-7i	CLIP-seq
MIRT2329323	hsa-miR-1206	CLIP-seq
MIRT2329324	hsa-miR-1207-5p	CLIP-seq
MIRT2329325	hsa-miR-1245b-3p	CLIP-seq
MIRT2329326	hsa-miR-1252	CLIP-seq
MIRT1354121	hsa-miR-1257	CLIP-seq
MIRT1354122	hsa-miR-1292	CLIP-seq
MIRT2329327	hsa-miR-1302	CLIP-seq
MIRT2329328	hsa-miR-132	CLIP-seq
MIRT2329329	hsa-miR-1827	CLIP-seq
MIRT2329330	hsa-miR-1912	CLIP-seq
MIRT1354073	hsa-miR-1915	CLIP-seq
MIRT2329331	hsa-miR-197	CLIP-seq
MIRT2329332	hsa-miR-202	CLIP-seq
MIRT1354123	hsa-miR-203	CLIP-seq
MIRT2329333	hsa-miR-21	CLIP-seq
MIRT2329334	hsa-miR-212	CLIP-seq
MIRT2329335	hsa-miR-214	CLIP-seq
MIRT1354077	hsa-miR-2355-5p	CLIP-seq
MIRT2329336	hsa-miR-3120-3p	CLIP-seq
MIRT2329337	hsa-miR-3127-3p	CLIP-seq
MIRT2329338	hsa-miR-3130-5p	CLIP-seq
MIRT1354124	hsa-miR-3144-5p	CLIP-seq
MIRT1354081	hsa-miR-3150a-3p	CLIP-seq
MIRT1354125	hsa-miR-3157-5p	CLIP-seq
MIRT2329339	hsa-miR-3165	CLIP-seq
MIRT2329340	hsa-miR-3170	CLIP-seq
MIRT1354082	hsa-miR-3173-3p	CLIP-seq
MIRT1354083	hsa-miR-3175	CLIP-seq
MIRT2329341	hsa-miR-3190	CLIP-seq
MIRT2329342	hsa-miR-3192	CLIP-seq
MIRT2329343	hsa-miR-3202	CLIP-seq
MIRT2329344	hsa-miR-329	CLIP-seq
MIRT2329345	hsa-miR-3615	CLIP-seq
MIRT2329346	hsa-miR-3619-5p	CLIP-seq
MIRT1354126	hsa-miR-3649	CLIP-seq
MIRT1354127	hsa-miR-3661	CLIP-seq
MIRT2329347	hsa-miR-383	CLIP-seq
MIRT2329348	hsa-miR-3913-3p	CLIP-seq
MIRT2329349	hsa-miR-3917	CLIP-seq
MIRT2329350	hsa-miR-3921	CLIP-seq
MIRT2329351	hsa-miR-3925-3p	CLIP-seq
MIRT2329352	hsa-miR-3937	CLIP-seq
MIRT2329353	hsa-miR-3977	CLIP-seq
MIRT2329354	hsa-miR-412	CLIP-seq
MIRT2104748	hsa-miR-4253	CLIP-seq
MIRT2329355	hsa-miR-4291	CLIP-seq
MIRT2329356	hsa-miR-4298	CLIP-seq
MIRT2329357	hsa-miR-4314	CLIP-seq
MIRT2329358	hsa-miR-433	CLIP-seq
MIRT2329359	hsa-miR-4330	CLIP-seq
MIRT2329360	hsa-miR-4458	CLIP-seq
MIRT1354129	hsa-miR-4471	CLIP-seq
MIRT2329361	hsa-miR-4476	CLIP-seq
MIRT2329362	hsa-miR-4482	CLIP-seq
MIRT2329363	hsa-miR-4500	CLIP-seq
MIRT1354101	hsa-miR-4533	CLIP-seq
MIRT2329364	hsa-miR-4635	CLIP-seq
MIRT2329365	hsa-miR-4639-3p	CLIP-seq
MIRT2329366	hsa-miR-4640-5p	CLIP-seq
MIRT1354131	hsa-miR-4646-5p	CLIP-seq
MIRT2329367	hsa-miR-4649-3p	CLIP-seq
MIRT2329368	hsa-miR-4653-5p	CLIP-seq
MIRT1354103	hsa-miR-4667-5p	CLIP-seq
MIRT2329369	hsa-miR-4668-5p	CLIP-seq
MIRT1354132	hsa-miR-4691-3p	CLIP-seq
MIRT1354104	hsa-miR-4695-5p	CLIP-seq
MIRT1354105	hsa-miR-4700-5p	CLIP-seq
MIRT2329370	hsa-miR-4706	CLIP-seq
MIRT2329371	hsa-miR-4726-5p	CLIP-seq
MIRT2329372	hsa-miR-4736	CLIP-seq
MIRT2329373	hsa-miR-4742-5p	CLIP-seq
MIRT1354109	hsa-miR-4747-5p	CLIP-seq
MIRT2329374	hsa-miR-4749-5p	CLIP-seq
MIRT2104749	hsa-miR-4761-3p	CLIP-seq
MIRT2329375	hsa-miR-4763-3p	CLIP-seq
MIRT2329376	hsa-miR-4781-5p	CLIP-seq
MIRT2329377	hsa-miR-4790-3p	CLIP-seq
MIRT1354133	hsa-miR-4802-3p	CLIP-seq
MIRT1354135	hsa-miR-492	CLIP-seq
MIRT2329378	hsa-miR-496	CLIP-seq
MIRT2329379	hsa-miR-499-3p	CLIP-seq
MIRT2329380	hsa-miR-499a-3p	CLIP-seq
MIRT2329381	hsa-miR-515-5p	CLIP-seq
MIRT1354113	hsa-miR-545	CLIP-seq
MIRT2329382	hsa-miR-548p	CLIP-seq
MIRT2329383	hsa-miR-561	CLIP-seq
MIRT2329384	hsa-miR-570	CLIP-seq
MIRT2329385	hsa-miR-590-5p	CLIP-seq
MIRT2329386	hsa-miR-605	CLIP-seq
MIRT1354138	hsa-miR-631	CLIP-seq
MIRT2329387	hsa-miR-642a	CLIP-seq
MIRT1354118	hsa-miR-649	CLIP-seq
MIRT2329388	hsa-miR-759	CLIP-seq
MIRT2329389	hsa-miR-761	CLIP-seq
MIRT2329390	hsa-miR-766	CLIP-seq
MIRT2329391	hsa-miR-922	CLIP-seq
MIRT1354120	hsa-miR-939	CLIP-seq
MIRT2329392	hsa-miR-98	CLIP-seq
MIRT2394627	hsa-miR-129-5p	CLIP-seq
MIRT2459557	hsa-miR-3064-5p	CLIP-seq
MIRT2459558	hsa-miR-331-3p	CLIP-seq
MIRT2459559	hsa-miR-3652	CLIP-seq
MIRT2459560	hsa-miR-3679-3p	CLIP-seq
MIRT2459561	hsa-miR-378g	CLIP-seq
MIRT2459562	hsa-miR-4430	CLIP-seq
MIRT1354100	hsa-miR-4505	CLIP-seq
MIRT1354066	hsa-miR-1303	CLIP-seq
MIRT2459557	hsa-miR-3064-5p	CLIP-seq
MIRT1354080	hsa-miR-3123	CLIP-seq
MIRT2459558	hsa-miR-331-3p	CLIP-seq
MIRT2459559	hsa-miR-3652	CLIP-seq
MIRT2459560	hsa-miR-3679-3p	CLIP-seq
MIRT2459561	hsa-miR-378g	CLIP-seq
MIRT1354092	hsa-miR-3920	CLIP-seq
MIRT1354093	hsa-miR-3925-5p	CLIP-seq
MIRT1354097	hsa-miR-4421	CLIP-seq
MIRT2459562	hsa-miR-4430	CLIP-seq
MIRT1354100	hsa-miR-4505	CLIP-seq
MIRT1354110	hsa-miR-4760-5p	CLIP-seq
MIRT1354116	hsa-miR-589	CLIP-seq
MIRT1354118	hsa-miR-649	CLIP-seq
MIRT2459557	hsa-miR-3064-5p	CLIP-seq
MIRT2459558	hsa-miR-331-3p	CLIP-seq
MIRT2459559	hsa-miR-3652	CLIP-seq
MIRT2459560	hsa-miR-3679-3p	CLIP-seq
MIRT2459561	hsa-miR-378g	CLIP-seq
MIRT2459562	hsa-miR-4430	CLIP-seq
MIRT1354100	hsa-miR-4505	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB3L1	Repression	17617614

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	IDA	8910405
GO:0005813	Component	Centrosome	IDA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IC	8910405
GO:0005886	Component	Plasma membrane	IMP	26041762
GO:0005886	Component	Plasma membrane	TAS
GO:0006865	Process	Amino acid transport	TAS
GO:0006868	Process	Glutamine transport	TAS	21757002
GO:0009986	Component	Cell surface	HDA	19581412
GO:0015171	Function	Amino acid transmembrane transporter activity	TAS
GO:0015175	Function	Neutral L-amino acid transmembrane transporter activity	IEA
GO:0015180	Function	L-alanine transmembrane transporter activity	IBA
GO:0015180	Function	L-alanine transmembrane transporter activity	IDA	8101838, 8340364, 8910405
GO:0015180	Function	L-alanine transmembrane transporter activity	IMP	26041762
GO:0015183	Function	L-aspartate transmembrane transporter activity	IBA
GO:0015183	Function	L-aspartate transmembrane transporter activity	IEA
GO:0015183	Function	L-aspartate transmembrane transporter activity	ISS
GO:0015184	Function	L-cystine transmembrane transporter activity	IDA	8340364
GO:0015184	Function	L-cystine transmembrane transporter activity	IDA	8101838, 8910405
GO:0015186	Function	L-glutamine transmembrane transporter activity	IEA
GO:0015186	Function	L-glutamine transmembrane transporter activity	TAS	21757002
GO:0015193	Function	L-proline transmembrane transporter activity	IDA	14502423
GO:0015194	Function	L-serine transmembrane transporter activity	IBA
GO:0015194	Function	L-serine transmembrane transporter activity	IDA	8101838, 8340364, 8910405
GO:0015194	Function	L-serine transmembrane transporter activity	IEA
GO:0015194	Function	L-serine transmembrane transporter activity	IMP	26041762
GO:0015195	Function	L-threonine transmembrane transporter activity	IBA
GO:0015195	Function	L-threonine transmembrane transporter activity	IDA	8340364
GO:0015293	Function	Symporter activity	IEA
GO:0015808	Process	L-alanine transport	IDA	8101838, 8340364, 8910405
GO:0015811	Process	L-cystine transport	IDA	8340364
GO:0015811	Process	L-cystine transport	IDA	8101838, 8910405
GO:0015813	Process	L-glutamate transmembrane transport	IBA
GO:0015824	Process	Proline transport	IDA	14502423
GO:0015825	Process	L-serine transport	IBA
GO:0015825	Process	L-serine transport	IDA	8101838, 8340364, 8910405
GO:0015825	Process	L-serine transport	IEA
GO:0015826	Process	Threonine transport	IDA	8340364
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	26041762
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8101838
GO:0030425	Component	Dendrite	IEA
GO:0034589	Process	Hydroxyproline transport	IDA	14502423
GO:0034590	Function	L-hydroxyproline transmembrane transporter activity	IDA	14502423
GO:0035249	Process	Synaptic transmission, glutamatergic	NAS	16897601
GO:0035524	Process	Proline transmembrane transport	IEA
GO:0042470	Component	Melanosome	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045202	Component	Synapse	IEA
GO:0050890	Process	Cognition	IMP	16897601
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0098718	Process	Serine import across plasma membrane	IEA
GO:0140009	Process	L-aspartate import across plasma membrane	IEA
GO:0140009	Process	L-aspartate import across plasma membrane	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1903812	Process	L-serine import across plasma membrane	IMP	26041762
GO:1904273	Process	L-alanine import across plasma membrane	IMP	26041762

Other IDs

• MIM: 600229
• HGNC: 10942
• e!Ensembl: ENSG00000115902

Protein

• UniProt ID: P43007
• Protein name: Neutral amino acid transporter A (Alanine/serine/cysteine/threonine transporter 1) (ASCT-1) (Solute carrier family 1 member 4)
• Protein function: Sodium-dependent neutral amino-acid transporter that mediates transport of alanine, serine, cysteine, proline, hydroxyproline and threonine. {ECO:0000269|PubMed:14502423, ECO:0000269|PubMed:26041762, ECO:0000269|PubMed:8101838, ECO:0000269|PubMe
• PDB: 7P4I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00375	SDF	44 → 477	Sodium:dicarboxylate symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed mostly in brain, muscle, and pancreas but detected in all tissues examined. {ECO:0000269|PubMed:8340364}.
• Sequence:

  MEKSNETNGYLDSAQAGPAAGPGAPGTAAGRARRCAGFLRRQALVLLTVSGVLAGAGLGA
  ALRGLSLSRTQVTYLAFPGEMLLRMLRMIILPLVVCSLVSGAASLDASCLGRLGGIAVAY
  FGLTTLSASALAVALAFIIKPGSGAQTLQSSDLGLEDSGPPPVPKETVDSFLDLARNLFP
  SNLVVAAFRTYATDYKVVTQNSSSGNVTHEKIPIGTEIEGMNILGLVLFALVLGVALKKL
  GSEGEDLIRFFNSLNEATMVLVSWIMWYVPVGIMFLVGSKIVEMKDIIVLVTSLGKYIFA
  SILGHVIHGGIVLPLIYFVFTRKNPFRFLLGLLAPFATAFATCSSSATLPSMMKCIEENN
  GVDKRISRFILPIGATVNMDGAAIFQCVAAVFIAQLNNVELNAGQIFTILVTATASSVGA
  AGVPAGGVLTIAIILEAIGLPTHDLPLILAVDWIVDRTTTVVNVEGDALGAGILHHLNQK
  ATKKGEQELAEVKVEAIPNCKSEEETSPLVTHQNPAGPVASAPELESKESVL

• Sequence length: 532

Pathways

Reactome:

Amino acid transport across the plasma membrane

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
SLC1A4-related disorder	Likely pathogenic	rs2528561476	RCV003391469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	Pathogenic; Likely pathogenic	rs2103675757, rs772094635, rs2528576121, rs765089126, rs747616493, rs2103675633, rs201278558, rs2528510595, rs1057517664, rs761533681, rs1553375174, rs1558529034, rs1572971860, rs1674284224, rs1674240361	RCV002273874 RCV002273875 RCV002308649 RCV002510631 RCV003224078 RCV003226072 RCV000412571 RCV003883284 RCV000412627 RCV000412526 RCV000579174 RCV000714856 RCV000985178 RCV001199378 RCV001199379	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR TELANGIECTASIA TYPE 2	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	BEFREE	17106422		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37643511	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	29989513		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35152560	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37194416	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	1395931, 19963421, 25930971, 26041762, 26138499, 27193218		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37194416	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27193218		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26041762, 27193218		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	27193218		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	27193218		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25930971		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26138499		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28507054		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31377347		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25930971, 26041762, 26138499, 27193218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	37194416	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	37894766	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20696240		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27193218, 29989513		★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 3	Pontocerebellar hypoplasia	Pubtator	37194416	Associate	★☆☆☆☆ Found in Text Mining only
Primary amyloidosis	Amyloidosis	BEFREE	31152491		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28507054		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28507054	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	15215745	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10994645, 17106422, 18638388, 30171039		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	18638388		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	18638388	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	25930971, 26138499		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY	Spastic Tetraplegia-Thin Corpus Callosum Microcephaly Syndrome	ORPHANET_DG	25930971, 26041762, 26138499		★☆☆☆☆ Found in Text Mining only
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY	Spastic Tetraplegia-Thin Corpus Callosum Microcephaly Syndrome	UNIPROT_DG	25930971, 26041762, 26138499		★☆☆☆☆ Found in Text Mining only
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY	Spastic Tetraplegia-Thin Corpus Callosum Microcephaly Syndrome	GENOMICS_ENGLAND_DG	25930971, 29989513		★☆☆☆☆ Found in Text Mining only
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY	Spastic Tetraplegia-Thin Corpus Callosum Microcephaly Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	Spastic Tetraplegia-Thin Corpus Callosum Microcephaly Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
West Syndrome	West Syndrome	BEFREE	27193218		★☆☆☆☆ Found in Text Mining only