SLC6A17

Summary

SLC6A17 (solute carrier family 6 member 17, HGNC:31399) is a protein-coding gene on chromosome 1p13.3, encoding Sodium-dependent neutral amino acid transporter SLC6A17 (Q9H1V8). Synaptic vesicle transporter with apparent selectivity for neutral amino acids.

The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability.

Source: NCBI Gene 388662 — RefSeq curated summary.

At a glance

• Gene–disease (curated): progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 143 total — 2 pathogenic
• Phenotypes (HPO): 39
• MANE Select transcript: NM_001010898

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31399
Approved symbol	SLC6A17
Name	solute carrier family 6 member 17
Location	1p13.3
Locus type	gene with protein product
Status	Approved
Aliases	NTT4
Ensembl gene	ENSG00000197106
Ensembl biotype	protein_coding
OMIM	610299
Entrez	388662

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000331565, ENST00000465159, ENST00000873463

RefSeq mRNA: 1 — MANE Select: NM_001010898 NM_001010898

CCDS: CCDS30799

Canonical transcript exons

ENST00000331565 — 12 exons

Exon	Start	End
ENSE00000783524	110195586	110195745
ENSE00000826875	110192506	110192698
ENSE00001068477	110172060	110172217
ENSE00001294779	110174779	110174960
ENSE00001312981	110191972	110192213
ENSE00001313225	110194579	110194771
ENSE00001319161	110197437	110197599
ENSE00001390460	110198076	110202202
ENSE00001450884	110173973	110174099
ENSE00001450898	110176629	110176739
ENSE00001450900	110166843	110167215
ENSE00001450901	110150494	110150883

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 94.00.

FANTOM5 (CAGE): breadth broad, TPM avg 4.3281 / max 189.3451, expressed in 391 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4522	3.0806	331
4521	0.5414	149
4525	0.4552	113
4526	0.0840	46
4524	0.0684	45
4520	0.0637	39
4523	0.0348	24

Top tissues by expression

244 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	94.00	gold quality
prefrontal cortex	UBERON:0000451	93.47	gold quality
pancreatic ductal cell	CL:0002079	93.34	silver quality
frontal cortex	UBERON:0001870	92.87	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.55	gold quality
lateral nuclear group of thalamus	UBERON:0002736	92.46	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.25	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.17	gold quality
pons	UBERON:0000988	91.83	gold quality
neocortex	UBERON:0001950	91.67	gold quality
cerebellar cortex	UBERON:0002129	91.56	gold quality
anterior cingulate cortex	UBERON:0009835	91.55	gold quality
cerebellar hemisphere	UBERON:0002245	91.52	gold quality
cerebellar vermis	UBERON:0004720	91.33	gold quality
cerebellum	UBERON:0002037	91.11	gold quality
superior frontal gyrus	UBERON:0002661	90.41	gold quality
parietal lobe	UBERON:0001872	90.33	gold quality
postcentral gyrus	UBERON:0002581	89.79	gold quality
cerebral cortex	UBERON:0000956	89.64	gold quality
islet of Langerhans	UBERON:0000006	88.56	gold quality
hypothalamus	UBERON:0001898	88.29	gold quality
occipital lobe	UBERON:0002021	87.46	gold quality
forebrain	UBERON:0001890	86.97	gold quality
primary visual cortex	UBERON:0002436	86.84	gold quality
brain	UBERON:0000955	86.76	gold quality
pituitary gland	UBERON:0000007	86.28	gold quality
upper arm skin	UBERON:0004263	86.21	gold quality
Brodmann (1909) area 46	UBERON:0006483	85.81	gold quality
middle temporal gyrus	UBERON:0002771	85.79	gold quality
dorsal plus ventral thalamus	UBERON:0001897	84.94	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	13.56
E-ANND-3	yes	4.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

278 targeting SLC6A17, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6870-5P	99.99	68.55	2115

Literature-anchored findings (GeneRIF, showing 2)

• The substrate profile of the NTT4/XT1-dependent activity is similar to that of the closely related B(0)AT2/SBAT1 (SLC6A15), including a submillimolar apparent affinity for proline and leucine and a low millimolar apparent affinity for glutamine. (PMID:19147495)
• Our genetic findings implicate homozygous SLC6A17 mutations in autosomal-recessive intellectual disability. (PMID:25704603)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc6a17	ENSDARG00000068787
mus_musculus	Slc6a17	ENSMUSG00000027894
rattus_norvegicus	Slc6a17	ENSRNOG00000050090

Paralogs (19): SLC6A13 (ENSG00000010379), SLC6A7 (ENSG00000011083), SLC6A16 (ENSG00000063127), SLC6A15 (ENSG00000072041), SLC6A2 (ENSG00000103546), SLC6A4 (ENSG00000108576), SLC6A12 (ENSG00000111181), SLC6A8 (ENSG00000130821), SLC6A6 (ENSG00000131389), SLC6A11 (ENSG00000132164), SLC6A3 (ENSG00000142319), SLC6A1 (ENSG00000157103), SLC6A20 (ENSG00000163817), SLC6A18 (ENSG00000164363), SLC6A5 (ENSG00000165970), SLC6A19 (ENSG00000174358), SLC6A9 (ENSG00000196517), SLC6A14 (ENSG00000268104), (ENSG00000273554)

Protein

Protein identifiers

Sodium-dependent neutral amino acid transporter SLC6A17 — Q9H1V8 (reviewed: Q9H1V8)

Alternative names: Sodium-dependent neurotransmitter transporter NTT4, Solute carrier family 6 member 17

All UniProt accessions (1): Q9H1V8

UniProt curated annotations — full annotation on UniProt →

Function. Synaptic vesicle transporter with apparent selectivity for neutral amino acids. The transport is sodium-coupled but chloride-independent, likely driven by the proton electrochemical gradient generated by vacuolar H(+)-ATPase in an overall electrogenic mechanism. May contribute to the synaptic uptake of neurotransmitter precursors in a process coupled in part to vesicle exocytosis.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Postsynapse. Presynapse.

Disease relevance. Intellectual developmental disorder, autosomal recessive 48 (MRT48) [MIM:616269] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family.

RefSeq proteins (1): NP_001010898* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000175	Na/ntran_symport	Family
IPR002438	Neutral_aa_SLC6	Family
IPR037272	SNS_sf	Homologous_superfamily

Pfam: PF00209

Catalyzed reactions (Rhea), 5 shown:

• L-proline(in) + Na(+)(in) = L-proline(out) + Na(+)(out) (RHEA:28967)
• L-leucine(in) + Na(+)(in) = L-leucine(out) + Na(+)(out) (RHEA:29263)
• L-alanine(in) + Na(+)(in) = L-alanine(out) + Na(+)(out) (RHEA:29283)
• glycine(in) + Na(+)(in) = glycine(out) + Na(+)(out) (RHEA:68228)
• L-glutamine(in) + Na(+)(in) = L-glutamine(out) + Na(+)(out) (RHEA:68236)

UniProt features (38 total): topological domain 13, transmembrane region 12, modified residue 5, sequence variant 3, glycosylation site 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H1V8-F1	81.47	0.58

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 13, 20, 377, 665, 701

Glycosylation sites (2): 186, 393

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 228 (showing top): GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_HEAD_DEVELOPMENT, GOBP_ORGANIC_CATION_TRANSPORT, GOBP_NEUTRAL_AMINO_ACID_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_PROTEIN_CATABOLIC_PROCESS, GOBP_SODIUM_ION_TRANSPORT, GOBP_VASCULAR_PROCESS_IN_CIRCULATORY_SYSTEM

GO Biological Process (13): neurotransmitter transport (GO:0006836), brain development (GO:0007420), neutral amino acid transport (GO:0015804), glycine transport (GO:0015816), L-leucine transport (GO:0015820), proline transport (GO:0015824), protein catabolic process (GO:0030163), alanine transport (GO:0032328), sodium ion transmembrane transport (GO:0035725), transport across blood-brain barrier (GO:0150104), monoatomic ion transport (GO:0006811), sodium ion transport (GO:0006814), amino acid transport (GO:0006865)

GO Molecular Function (3): symporter activity (GO:0015293), protein binding (GO:0005515), transmembrane transporter activity (GO:0022857)

GO Cellular Component (11): plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), membrane (GO:0016020), synaptic vesicle membrane (GO:0030672), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995), synapse (GO:0045202), presynapse (GO:0098793)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
neutral amino acid transport	4
cellular anatomical structure	4
synapse	4
transport	3
carboxylic acid transport	2
nitrogen compound transport	2
L-amino acid transport	2
central nervous system development	1
animal organ development	1
head development	1
amino acid transport	1
branched-chain amino acid transport	1
macromolecule catabolic process	1
protein metabolic process	1
sodium ion transport	1
monoatomic cation transmembrane transport	1
vascular transport	1
metal ion transport	1
secondary active transmembrane transporter activity	1
binding	1
transporter activity	1
transmembrane transport	1
membrane	1
cell periphery	1
exocytic vesicle	1
presynapse	1
synaptic vesicle	1
exocytic vesicle membrane	1
cytoplasm	1
intracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

1432 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC6A17	UBL4B	Q8N7F7	922
SLC6A17	ALX3	O95076	839
SLC6A17	TEX15	Q9BXT5	762
SLC6A17	UBL4A	P11441	546
SLC6A17	FAM135B	Q49AJ0	473
SLC6A17	SLC7A5	Q01650	467
SLC6A17	SLC29A3	Q9BZD2	451
SLC6A17	SLC1A4	P43007	447
SLC6A17	LRIG3	Q6UXM1	435
SLC6A17	SLC20A1	Q8WUM9	431
SLC6A17	SLC19A3	Q9BZV2	426
SLC6A17	RTN4RL1	Q86UN2	422
SLC6A17	KDELR2	P33947	417
SLC6A17	SLC47A1	Q96FL8	413
SLC6A17	SLC39A10	Q9ULF5	398

IntAct

5 interactions, top by confidence:

A	B	Type	Score
BNIP3	SLC6A17	psi-mi:“MI:0915”(physical association)	0.560
SLC6A17	AIP	psi-mi:“MI:0914”(association)	0.350
BNIP3	SLC6A17	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (22): SLC6A17 (Two-hybrid), SLC6A17 (Affinity Capture-MS), SLC6A17 (Proximity Label-MS), SLC6A17 (Affinity Capture-MS), SLC6A17 (Cross-Linking-MS (XL-MS)), SLC6A17 (Affinity Capture-MS), SLC6A17 (Co-fractionation), AIP (Affinity Capture-MS), ATP5J (Affinity Capture-MS), B4GAT1 (Affinity Capture-MS), CLGN (Affinity Capture-MS), CLPTM1 (Affinity Capture-MS), CNIH4 (Affinity Capture-MS), EI24 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IDX9, A0A2C9VBV6, A2ARJ3, A7T1N0, A7Y2X0, A8Y2U2, O12977, O17386, O35119, O70131, O76689, O80739, P31662, P52166, P70617, P79100, Q05005, Q08469, Q0WMJ8, Q3UP23, Q57UM0, Q5JK32, Q5R9C2, Q5W0B7, Q69RI8, Q6H4R6, Q6NPT7, Q6ZUK4, Q75G84, Q84MS3, Q84MS4, Q8BG16, Q8BJI1, Q8MPP0, Q90X07, Q92982, Q94KB1, Q94KB9, Q9FI00, Q9FY75

Diamond homologs: A5PJX7, A7Y2W8, A7Y2X0, B3MRS1, B3NV41, B4GVM9, B4JMC1, B4L7U0, B4MEG2, B4NDL8, B4PZQ4, B4R4T6, G5EBN9, O18875, O35316, O35899, O45813, O55192, O76689, O88575, O88576, P23975, P23977, P23978, P27799, P27922, P28570, P28571, P28572, P28573, P30531, P31641, P31643, P31645, P31646, P31647, P31648, P31649, P31650, P31651

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

143 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	95
Likely benign	25
Benign	8

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
187769	NM_001010898.4(SLC6A17):c.484G>A (p.Gly162Arg)	Pathogenic
187770	NM_001010898.4(SLC6A17):c.1898C>G (p.Pro633Arg)	Pathogenic

SpliceAI

2377 predictions. Top by Δscore:

Variant	Effect	Δscore
1:110167212:GGAG:G	donor_gain	1.0000
1:110167213:GAGG:G	donor_gain	1.0000
1:110167214:AGG:A	donor_loss	1.0000
1:110167216:GT:G	donor_loss	1.0000
1:110172218:G:GG	donor_gain	1.0000
1:110174768:T:A	acceptor_gain	1.0000
1:110174775:TCAGT:T	acceptor_loss	1.0000
1:110174776:CAGT:C	acceptor_loss	1.0000
1:110174777:A:AG	acceptor_gain	1.0000
1:110174777:AGT:A	acceptor_gain	1.0000
1:110174777:AGTG:A	acceptor_gain	1.0000
1:110174778:G:GG	acceptor_gain	1.0000
1:110174778:GTG:G	acceptor_gain	1.0000
1:110174778:GTGG:G	acceptor_gain	1.0000
1:110174778:GTGGT:G	acceptor_gain	1.0000
1:110174956:GGAAG:G	donor_gain	1.0000
1:110174957:GAAG:G	donor_gain	1.0000
1:110174957:GAAGG:G	donor_gain	1.0000
1:110174959:AGGTG:A	donor_loss	1.0000
1:110174961:G:GC	donor_loss	1.0000
1:110174961:G:GG	donor_gain	1.0000
1:110174962:T:A	donor_loss	1.0000
1:110176624:TGCA:T	acceptor_loss	1.0000
1:110176625:GCA:G	acceptor_loss	1.0000
1:110176626:CAGGT:C	acceptor_loss	1.0000
1:110176627:AGGT:A	acceptor_gain	1.0000
1:110176628:GGTG:G	acceptor_gain	1.0000
1:110176738:AGGT:A	donor_loss	1.0000
1:110176740:G:GA	donor_loss	1.0000
1:110176741:T:A	donor_loss	1.0000

AlphaMissense

4784 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:110167116:T:A	W63R	1.000
1:110167116:T:C	W63R	1.000
1:110167118:G:C	W63C	1.000
1:110167118:G:T	W63C	1.000
1:110167179:T:A	W84R	1.000
1:110167179:T:C	W84R	1.000
1:110172134:G:C	G121R	1.000
1:110172134:G:T	G121C	1.000
1:110172135:G:A	G121D	1.000
1:110172135:G:T	G121V	1.000
1:110172167:T:A	W132R	1.000
1:110172167:T:C	W132R	1.000
1:110174015:T:A	W163R	1.000
1:110174015:T:C	W163R	1.000
1:110174060:T:A	W178R	1.000
1:110174060:T:C	W178R	1.000
1:110174062:G:C	W178C	1.000
1:110174062:G:T	W178C	1.000
1:110174830:G:C	R208P	1.000
1:110191999:T:A	W298R	1.000
1:110191999:T:C	W298R	1.000
1:110192066:C:T	S320F	1.000
1:110192161:T:C	F352L	1.000
1:110192163:T:A	F352L	1.000
1:110192163:T:G	F352L	1.000
1:110194603:T:C	F442L	1.000
1:110194605:C:A	F442L	1.000
1:110194605:C:G	F442L	1.000
1:110167134:T:C	Y69H	0.999
1:110167141:T:C	L71P	0.999

dbSNP variants (sampled 300 via entrez): RS1000050281 (1:110191488 G>C), RS1000091998 (1:110200774 GGTGT>G,GGT,GGTGTGT), RS1000104162 (1:110157968 T>C), RS1000155907 (1:110197725 C>G), RS1000178609 (1:110174620 T>A), RS1000198205 (1:110152146 C>A,T), RS1000287504 (1:110157656 A>G), RS1000293114 (1:110174346 C>G,T), RS1000322347 (1:110188381 T>A), RS1000347720 (1:110169443 A>T), RS1000361486 (1:110170857 G>T), RS1000446500 (1:110190888 C>T), RS1000447985 (1:110158665 C>T), RS1000555903 (1:110158233 G>A,T), RS1000589421 (1:110153422 A>C,T)

Disease associations

OMIM: gene MIM:610299 | disease phenotypes: MIM:616269

GenCC curated gene-disease

Disease	Classification	Inheritance
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Strong	Autosomal recessive
schizophrenia	No Known Disease Relationship	Unknown

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Moderate	AR

Mondo (3): progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (MONDO:0014559), long QT syndrome (MONDO:0002442), schizophrenia (MONDO:0005090)

Orphanet (1): Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (Orphanet:457212)

HPO phenotypes

39 total (30 of 39 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000073	Ureteral duplication
HP:0000077	Abnormality of the kidney
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000303	Mandibular prognathia
HP:0000343	Long philtrum
HP:0000400	Macrotia
HP:0000574	Thick eyebrow
HP:0000712	Emotional lability
HP:0000718	Aggressive behavior
HP:0000722	Compulsive behaviors
HP:0000742	Self-mutilation
HP:0000748	Inappropriate laughter
HP:0000750	Delayed speech and language development
HP:0000821	Hypothyroidism
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001337	Tremor
HP:0001344	Absent speech
HP:0002342	Moderate intellectual disability
HP:0002378	Hand tremor
HP:0002465	Poor speech
HP:0002515	Waddling gait
HP:0002540	Inability to walk
HP:0002705	High, narrow palate
HP:0002861	Melanoma
HP:0003002	Breast carcinoma
HP:0003593	Infantile onset
HP:0003623	Neonatal onset

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001524_21	Visceral adipose tissue/subcutaneous adipose tissue ratio	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004767	visceral:subcutaneous adipose tissue ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Neutral amino acid transporter subfamily

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
Aflatoxin B1	affects methylation, increases methylation	2
FR900359	increases phosphorylation	1
perfluorooctanoic acid	increases expression	1
zinc chromate	increases abundance, decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
incobotulinumtoxinA	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Dexamethasone	decreases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Lead	affects expression	1
Methapyrilene	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4Q8	HCT116-SLC6A17-KO-c2	Cancer cell line	Male
CVCL_D4Q9	HCT116-SLC6A17-KO-c6	Cancer cell line	Male

Clinical trials (associated diseases)

366 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety