• Gene id: 81539

Gene Summary

• Gene Symbol: SLC38A1   Gene   UCSC   Ensembl
• Aliases: ATA1, NAT2, SAT1, SNAT1
• Gene name: solute carrier family 38 member 1
• Alternate names: sodium-coupled neutral amino acid transporter 1, N-system amino acid transporter 2, amino acid transporter A1, amino acid transporter system A1, system A amino acid transporter 1, system N amino acid transporter 1,
• Gene location: 12q13.11 (46269148: 46183062)     Exons: 22     NC_000012.12
• Gene summary(Entrez): Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of am
• OMIM: 608490

Protein Summary

• Protein general information: Q9H2H9  
  • Name: Sodium coupled neutral amino acid transporter 1 (Amino acid transporter A1) (N system amino acid transporter 2) (Solute carrier family 38 member 1) (System A amino acid transporter 1) (System N amino acid transporter 1)
  • Length: 487  
  • Mass: 54048
  • Tissue specificity: Expressed in the cerebral cortex by pyramidal and GABAergic neurons, astrocytes and other non-neuronal cells (at protein level). Expressed in placenta, heart, lung, skeletal muscle, spleen, stomach and testis. {ECO
• Sequence:

  MMHFKSGLELTELQNMTVPEDDNISNDSNDFTEVENGQINSKFISDRESRRSLTNSHLEKKKCDEYIPGTTSLGM
  SVFNLSNAIMGSGILGLAFALANTGILLFLVLLTSVTLLSIYSINLLLICSKETGCMVYEKLGEQVFGTTGKFVI
  FGATSLQNTGAMLSYLFIVKNELPSAIKFLMGKEETFSAWYVDGRVLVVIVTFGIILPLCLLKNLGYLGYTSGFS
  LSCMVFFLIVVIYKKFQIPCIVPELNSTISANSTNADTCTPKYVTFNSKTVYALPTIAFAFVCHPSVLPIYSELK
  DRSQKKMQMVSNISFFAMFVMYFLTAIFGYLTFYDNVQSDLLHKYQSKDDILILTVRLAVIVAVILTVPVLFFTV
  RSSLFELAKKTKFNLCRHTVVTCILLVVINLLVIFIPSMKDIFGVVGVTSANMLIFILPSSLYLKITDQDGDKGT
  QRIWAALFLGLGVLFSLVSIPLVIYDWACSSSSDEGH

• Structural information:
  • Interpro: IPR013057  
  • STRING: ENSP00000449756
• Other Databases: GeneCards:  SLC38A1  Malacards:  SLC38A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0005295	neutral amino acid:sodium symporter activity	ISS	molecular function
GO:0015179	L-amino acid transmembrane transporter activity	ISS	molecular function
GO:1902475	L-alpha-amino acid transmembrane transport	ISS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0015804	neutral amino acid transport	ISS	biological process
GO:0098591	external side of apical plasma membrane	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0015186	L-glutamine transmembrane transporter activity	IBA	molecular function
GO:0003333	amino acid transmembrane transport	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006868	glutamine transport	IBA	biological process
GO:0015171	amino acid transmembrane transporter activity	IBA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0001504	neurotransmitter uptake	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0006865	amino acid transport	TAS	biological process
GO:0015179	L-amino acid transmembrane transporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005283	amino acid:sodium symporter activity	NAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0015175	neutral amino acid transmembrane transporter activity	NAS	molecular function
GO:0015804	neutral amino acid transport	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04724	Glutamatergic synapse
hsa04727	GABAergic synapse

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R