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2.A.18.6.14
Sodium-coupled neutral amino acid transporter 1 (Amino acid transporter A1; SLC38A1; SNAT1; N-system amino acid transporter 2; Solute carrier family 38 member 1; System A amino acid transporter 1; System N amino acid transporter 1).  When overexpressed, it causes Rett syndrome (RTT), an autism spectrum disorder caused by loss-of-function mutations in the gene encoding MeCP2, an epigenetic modulator (transcriptional repressor) of SLC38A1, which encodes a major glutamine transporter (SNAT1).  Because glutamine is mainly metabolized in the mitochondria where it is used as an energy substrate and a precursor for glutamate production, SNAT1 overexpression in MeCP2-deficient microglia impairs glutamine homeostasis, resulting in mitochondrial dysfunction as well as microglial neurotoxicity because of glutamate overproduction (Perez et al. 2014).

Accession Number:Q9H2H9
Protein Name:Sodium-coupled neutral amino acid transporter 1
Length:487
Molecular Weight:54048.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:12
Location1 / Topology2 / Orientation3: Cell membrane1 / Multi-pass membrane protein2
Substrate Amino acids

Cross database links:

Genevestigator: Q9H2H9
eggNOG: COG0814
HEGENOM: HOG000013088
Entrez Gene ID: 81539   
Pfam: PF01490   
KEGG: hsa:81539   

Gene Ontology

GO:0030424 C:axon
GO:0016021 C:integral to membrane
GO:0005624 C:membrane fraction
GO:0005886 C:plasma membrane
GO:0015186 F:L-glutamine transmembrane transporter activity
GO:0015175 F:neutral amino acid transmembrane transporter activity
GO:0005283 F:sodium:amino acid symporter activity
GO:0001504 P:neurotransmitter uptake

References (12)

[1] “Cloning and functional expression of ATA1, a subtype of amino acid transporter A, from human placenta.”  Wang H.et.al.   10891391
[2] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[3] “Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.”  Otsuki T.et.al.   16303743
[4] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[5] “Hypoxia reduces expression and function of system A amino acid transporters in cultured term human trophoblasts.”  Nelson D.M.et.al.   12388062
[6] “Localization of the glutamine transporter SNAT1 in rat cerebral cortex and neighboring structures, with a note on its localization in human cortex.”  Melone M.et.al.   15054072
[7] “SNAT4 isoform of system A amino acid transporter is expressed in human placenta.”  Desforges M.et.al.   16148032
[8] “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.”  Olsen J.V.et.al.   17081983
[9] “Functional expression of a glutamine transporter responsive to down-regulation by lipopolysaccharide through reduced promoter activity in cultured rat neocortical astrocytes.”  Ogura M.et.al.   16583402
[10] “Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.”  Daub H.et.al.   18691976
[11] “A quantitative atlas of mitotic phosphorylation.”  Dephoure N.et.al.   18669648
[12] “Large-scale proteomics analysis of the human kinome.”  Oppermann F.S.et.al.   19369195

External Searches:

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  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MMHFKSGLEL TELQNMTVPE DDNISNDSND FTEVENGQIN SKFISDRESR RSLTNSHLEK 
61:	KKCDEYIPGT TSLGMSVFNL SNAIMGSGIL GLAFALANTG ILLFLVLLTS VTLLSIYSIN 
121:	LLLICSKETG CMVYEKLGEQ VFGTTGKFVI FGATSLQNTG AMLSYLFIVK NELPSAIKFL 
181:	MGKEETFSAW YVDGRVLVVI VTFGIILPLC LLKNLGYLGY TSGFSLSCMV FFLIVVIYKK 
241:	FQIPCIVPEL NSTISANSTN ADTCTPKYVT FNSKTVYALP TIAFAFVCHP SVLPIYSELK 
301:	DRSQKKMQMV SNISFFAMFV MYFLTAIFGY LTFYDNVQSD LLHKYQSKDD ILILTVRLAV 
361:	IVAVILTVPV LFFTVRSSLF ELAKKTKFNL CRHTVVTCIL LVVINLLVIF IPSMKDIFGV 
421:	VGVTSANMLI FILPSSLYLK ITDQDGDKGT QRIWAALFLG LGVLFSLVSI PLVIYDWACS 
481:	SSSDEGH