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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10991
Gene name	Solute carrier family 38 member 3
Gene symbol	SLC38A3
Synonyms (NCBI Gene)	DEE102G17NAT1SN1SNAT3
Chromosome	3
Chromosome location	3p21.31

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments
MIRT1363005	hsa-miR-143	CLIP-seq
MIRT1363006	hsa-miR-1915	CLIP-seq
MIRT1363007	hsa-miR-4685-5p	CLIP-seq
MIRT1363008	hsa-miR-4770	CLIP-seq
MIRT2107651	hsa-miR-1275	CLIP-seq
MIRT1363005	hsa-miR-143	CLIP-seq
MIRT2107652	hsa-miR-3175	CLIP-seq
MIRT2107653	hsa-miR-4525	CLIP-seq
MIRT2107654	hsa-miR-4656	CLIP-seq
MIRT2107655	hsa-miR-4665-5p	CLIP-seq
MIRT2107656	hsa-miR-4723-5p	CLIP-seq
MIRT2107657	hsa-miR-4731-5p	CLIP-seq
MIRT1363008	hsa-miR-4770	CLIP-seq
MIRT2107658	hsa-miR-625	CLIP-seq
MIRT2107659	hsa-miR-637	CLIP-seq
MIRT2331487	hsa-miR-214	CLIP-seq
MIRT2331488	hsa-miR-3619-5p	CLIP-seq
MIRT2331489	hsa-miR-4291	CLIP-seq
MIRT2331490	hsa-miR-4758-3p	CLIP-seq
MIRT2331491	hsa-miR-761	CLIP-seq
MIRT2331492	hsa-miR-922	CLIP-seq

Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003333	Process	Amino acid transmembrane transport	IBA
GO:0005290	Function	L-histidine transmembrane transporter activity	IBA
GO:0005290	Function	L-histidine transmembrane transporter activity	IDA	10823827
GO:0005290	Function	L-histidine transmembrane transporter activity	IEA
GO:0005295	Function	Neutral L-amino acid:sodium symporter activity	IEA
GO:0005295	Function	Neutral L-amino acid:sodium symporter activity	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006865	Process	Amino acid transport	IEA
GO:0006865	Process	Amino acid transport	TAS
GO:0006867	Process	Asparagine transport	IBA
GO:0006867	Process	Asparagine transport	IDA	10823827
GO:0006867	Process	Asparagine transport	IEA
GO:0006868	Process	Glutamine transport	IBA
GO:0006868	Process	Glutamine transport	IDA	10823827
GO:0006868	Process	Glutamine transport	IEA
GO:0006868	Process	Glutamine transport	IEA
GO:0007565	Process	Female pregnancy	IEA
GO:0010585	Process	Glutamine secretion	IEA
GO:0010585	Process	Glutamine secretion	ISS
GO:0015171	Function	Amino acid transmembrane transporter activity	TAS
GO:0015180	Function	L-alanine transmembrane transporter activity	IDA	10823827
GO:0015182	Function	L-asparagine transmembrane transporter activity	IBA
GO:0015182	Function	L-asparagine transmembrane transporter activity	IDA	10823827
GO:0015182	Function	L-asparagine transmembrane transporter activity	IEA
GO:0015186	Function	L-glutamine transmembrane transporter activity	IBA
GO:0015186	Function	L-glutamine transmembrane transporter activity	IDA	10823827
GO:0015186	Function	L-glutamine transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015808	Process	L-alanine transport	IDA	10823827
GO:0015817	Process	Histidine transport	IBA
GO:0015817	Process	Histidine transport	IDA	10823827
GO:0015817	Process	Histidine transport	IEA
GO:0015817	Process	Histidine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0051365	Process	Cellular response to potassium ion starvation	IEA
GO:0080144	Process	Intracellular amino acid homeostasis	IEA
GO:0080144	Process	Intracellular amino acid homeostasis	ISS
GO:0140830	Function	L-glutamine, sodium:proton antiporter activity	IEA
GO:0140830	Function	L-glutamine, sodium:proton antiporter activity	ISS
GO:0140831	Function	L-asparagine, sodium:proton antiporter activity	IEA
GO:0140831	Function	L-asparagine, sodium:proton antiporter activity	ISS
GO:0140832	Function	L-histidine, sodium:proton antiporter activity	IEA
GO:0140832	Function	L-histidine, sodium:proton antiporter activity	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1902024	Process	L-histidine transport	IEA
GO:1902024	Process	L-histidine transport	ISS
GO:1903803	Process	L-glutamine import across plasma membrane	IEA
GO:1903803	Process	L-glutamine import across plasma membrane	ISS
GO:1903810	Process	L-histidine import across plasma membrane	IEA
GO:1903810	Process	L-histidine import across plasma membrane	ISS
GO:1903811	Process	L-asparagine import across plasma membrane	IEA
GO:1903811	Process	L-asparagine import across plasma membrane	ISS
GO:2000487	Process	Positive regulation of glutamine transport	IEA

MIM	HGNC	e!Ensembl
604437	18044	ENSG00000188338

Q99624

Protein name

Sodium-coupled neutral amino acid transporter 3 (N-system amino acid transporter 1) (Na(+)-coupled neutral amino acid transporter 3) (Solute carrier family 38 member 3) (System N amino acid transporter 1)

Protein function

Symporter that cotransports specific neutral amino acids and sodium ions, coupled to an H(+) antiporter activity (PubMed:10823827). Mainly participates in the glutamate-GABA-glutamine cycle in brain where it transports L-glutamine from astrocyte

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01490	Aa_trans	64 → 491	Transmembrane amino acid transporter protein	Family

Sequence

MEAPLQTEMVELVPNGKHSEGLLPVITPMAGNQRVEDPARSCMEGKSFLQKSPSKEPHFT
DFEGKTSFGMSVFNLSNAIMGSGILGLAYAMANTGIILFLFLLTAVALLSSYSIHLLLKS
SGVVGIRAYEQLGYRAFGTPGKLAAALAITLQNIGAMSSYLYIIKSELPLVIQTFLNLEE
KTSDWYMNGNYLVILVSVTIILPLALMRQLGYLGYSSGFSLSCMVFFLIAVIYKKFHVPC
PLPPNFNNTTGNFSHVEIVKEKVQLQVEPEASAFCTPSYFTLNSQTAYTIPIMAFAFVCH
PEVLPIYTELKDPSKKKMQHISNLSIAVMYIMYFLAALFGYLTFYNGVESELLHTYSKVD
PFDVLILCVRVAVLTAVTLTVPIVLFPVRRAIQQMLFPNQEFSWLRHVLIAVGLLTCINL
LVIFAPNILGIFGVIGATSAPFLIFIFPAIFYFRIMPTEKEPARSTPKILALCFAMLGFL
LMTMSLSFIIIDWASGTSRHGGNH

Sequence length

504

Interactions

View interactions

	KEGG		Reactome
	Glutamatergic synapse GABAergic synapse Proximal tubule bicarbonate reclamation		Amino acid transport across the plasma membrane

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy 102	Likely pathogenic; Pathogenic	rs2109159077, rs2109157808, rs1368316485, rs2109158868, rs2109158872, rs1437118005	RCV002250376 RCV002250384 RCV002250385 RCV002250386 RCV002250387 RCV003152963

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Short stature	Uncertain significance	rs780109786, rs1352789248, rs587595868	RCV000736230 RCV000736229 RCV000736231

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Brain Diseases	Associate	34605855
Carcinoma Hepatocellular	Associate	12381519
Diabetes Mellitus Type 2	Associate	36364703
Diabetic Angiopathies	Associate	36364703
Diabetic Retinopathy	Associate	36364703
Epilepsy	Associate	34605855
Epileptic Encephalopathy Early Infantile 3	Associate	34605855
Intellectual Disability	Associate	34605855
Neoplasms	Inhibit	23811327, 25804888
Renal Insufficiency Chronic	Associate	36364703
Schizophrenia	Associate	30285260
Speech Disorders	Associate	34605855
Vision Disorders	Associate	34605855

SLC38A3 (solute carrier family 38 member 3)