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Aliases for SLC38A1 Gene

Aliases for SLC38A1 Gene

  • Solute Carrier Family 38 Member 1 2 3 4 5
  • System A Amino Acid Transporter 1 3 4
  • System N Amino Acid Transporter 1 3 4
  • N-System Amino Acid Transporter 2 3 4
  • Amino Acid Transporter A1 3 4
  • SNAT1 3 4
  • NAT2 3 4
  • SAT1 3 4
  • ATA1 3 4
  • Sodium-Coupled Neutral Amino Acid Transporter 1 3
  • Solute Carrier Family 38, Member 1 2
  • Amino Acid Transporter System A1 3

External Ids for SLC38A1 Gene

Previous GeneCards Identifiers for SLC38A1 Gene

  • GC12M046658
  • GC12M046474
  • GC12M046298
  • GC12M044867
  • GC12M043608
  • GC12M046576

Summaries for SLC38A1 Gene

Entrez Gene Summary for SLC38A1 Gene

  • 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 ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC38A1 Gene

SLC38A1 (Solute Carrier Family 38 Member 1) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Amino acid transport across the plasma membrane. GO annotations related to this gene include neutral amino acid transmembrane transporter activity and sodium:amino acid symporter activity. An important paralog of this gene is SLC38A4.

UniProtKB/Swiss-Prot for SLC38A1 Gene

  • Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of glutamine and sodium ions with a stoichiometry of 1:1. May also transport small zwitterionic and aliphatic amino acids with a lower affinity. May supply glutamatergic and GABAergic neurons with glutamine which is required for the synthesis of the neurotransmitters glutamate and GABA.

Gene Wiki entry for SLC38A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC38A1 Gene

Genomics for SLC38A1 Gene

Regulatory Elements for SLC38A1 Gene

Enhancers for SLC38A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G046206 2 FANTOM5 Ensembl ENCODE dbSUPER 22.9 +55.1 55080 17.4 HDGF PKNOX1 WRNIP1 SIN3A YBX1 ZNF2 YY1 ZNF766 CBX5 ZNF143 SLC38A1 SLC38A2 ARID2 ENSG00000257261 SCAF11 ENSG00000274591 GC12M046187
GH12G046158 1.5 Ensembl ENCODE dbSUPER 15.8 +109.6 109619 4.7 PKNOX1 ZFP64 SIN3A FEZF1 FOS KLF7 SP3 JUNB TSHZ1 PPARG SLC38A1 SLC38A2 SLC38A4 GC12M046187 GC12P046111
GH12G046364 1.7 Ensembl ENCODE dbSUPER 10.8 -99.6 -99567 11.0 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 SLC38A1 LINC00938 KNOP1P2 ENSG00000257261 LOC102723757 GC12P046358
GH12G046177 1.2 FANTOM5 ENCODE dbSUPER 12.9 +91.9 91930 1.3 HDGF TBP WRNIP1 RELA GATA2 POLR2A NFYB RELB IKZF2 BCLAF1 SLC38A1 GC12M046187 GC12P046111
GH12G046174 1.3 Ensembl ENCODE dbSUPER 11.4 +95.6 95596 0.7 HDGF PKNOX1 CBX3 TBL1XR1 WRNIP1 CBX5 RELB ETV6 IKZF2 CREM SLC38A1 PLEKHA8P1 GC12M046187 GC12P046111
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC38A1 on UCSC Golden Path with GeneCards custom track

Promoters for SLC38A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051217 1817 4001 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 ZNF263

Genomic Location for SLC38A1 Gene

Chromosome:
12
Start:
46,183,055 bp from pter
End:
46,270,017 bp from pter
Size:
86,963 bases
Orientation:
Minus strand

Genomic View for SLC38A1 Gene

Genes around SLC38A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC38A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC38A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC38A1 Gene

Proteins for SLC38A1 Gene

  • Protein details for SLC38A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2H9-S38A1_HUMAN
    Recommended name:
    Sodium-coupled neutral amino acid transporter 1
    Protein Accession:
    Q9H2H9
    Secondary Accessions:
    • Q8NC61
    • Q8NCF8
    • Q96JX2
    • Q9H2Q2

    Protein attributes for SLC38A1 Gene

    Size:
    487 amino acids
    Molecular mass:
    54048 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG44546.1; Type=Frameshift; Positions=443; Evidence={ECO:0000305}; Sequence=BAC11186.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SLC38A1 Gene

Post-translational modifications for SLC38A1 Gene

  • Ubiquitination at Lys387
  • Glycosylation at Asn251 and Asn257
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC38A1 Gene

Domains & Families for SLC38A1 Gene

Gene Families for SLC38A1 Gene

Protein Domains for SLC38A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC38A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H2H9

UniProtKB/Swiss-Prot:

S38A1_HUMAN :
  • Belongs to the amino acid/polyamine transporter 2 family.
Family:
  • Belongs to the amino acid/polyamine transporter 2 family.
genes like me logo Genes that share domains with SLC38A1: view

Function for SLC38A1 Gene

Molecular function for SLC38A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=890 uM for 2-methylamino-isobutyric acid (MeAIB) (at pH 8.5) {ECO:0000269 PubMed:10891391};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by potassium, choline ions and 2-methylamino-isobutyric acid (MeAIB) (By similarity). Inhibited by lithium and N-methyl-D-glucamine.
UniProtKB/Swiss-Prot Function:
Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of glutamine and sodium ions with a stoichiometry of 1:1. May also transport small zwitterionic and aliphatic amino acids with a lower affinity. May supply glutamatergic and GABAergic neurons with glutamine which is required for the synthesis of the neurotransmitters glutamate and GABA.
UniProtKB/Swiss-Prot Induction:
Down-regulated by bacterial lipopolysaccharides (LPS) in glial cells. Down-regulated upon hypoxia.

Gene Ontology (GO) - Molecular Function for SLC38A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005283 sodium:amino acid symporter activity NAS 10891391
GO:0005515 protein binding IPI 25416956
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015175 neutral amino acid transmembrane transporter activity NAS 10891391
GO:0015179 L-amino acid transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC38A1: view
genes like me logo Genes that share phenotypes with SLC38A1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC38A1

CRISPR Products

miRNA for SLC38A1 Gene

miRTarBase miRNAs that target SLC38A1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC38A1 Gene

Localization for SLC38A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC38A1 Gene

Cell membrane; Multi-pass membrane protein. Note=Restricted to the somatodendritic compartment of neurons. Found in the cellular processes of neurons in the developing brain (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC38A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC38A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 10891391
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with SLC38A1: view

Pathways & Interactions for SLC38A1 Gene

genes like me logo Genes that share pathways with SLC38A1: view

Pathways by source for SLC38A1 Gene

Gene Ontology (GO) - Biological Process for SLC38A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001504 neurotransmitter uptake TAS --
GO:0003333 amino acid transmembrane transport IBA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
genes like me logo Genes that share ontologies with SLC38A1: view

No data available for SIGNOR curated interactions for SLC38A1 Gene

Drugs & Compounds for SLC38A1 Gene

(4) Drugs for SLC38A1 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lithium Approved Pharma 0
[<sup>14</sup>C]alanine Pharma 0
[<sup>3</sup>H]alanine Pharma 0

(1) Additional Compounds for SLC38A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC38A1: view

Transcripts for SLC38A1 Gene

Unigene Clusters for SLC38A1 Gene

Solute carrier family 38, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC38A1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - -
SP2:
SP3: - -
SP4: -
SP5:

Relevant External Links for SLC38A1 Gene

GeneLoc Exon Structure for
SLC38A1
ECgene alternative splicing isoforms for
SLC38A1

Expression for SLC38A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC38A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC38A1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.0).

Protein differential expression in normal tissues from HIPED for SLC38A1 Gene

This gene is overexpressed in Retina (28.7), Liver (11.4), and Fetal Brain (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC38A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC38A1 Gene:

SLC38A1

SOURCE GeneReport for Unigene cluster for SLC38A1 Gene:

Hs.533770

mRNA Expression by UniProt/SwissProt for SLC38A1 Gene:

Q9H2H9-S38A1_HUMAN
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.

Evidence on tissue expression from TISSUES for SLC38A1 Gene

  • Nervous system(5)
  • Eye(4.2)
  • Intestine(3.9)
  • Blood(2.2)
  • Heart(2.2)
  • Liver(2.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with SLC38A1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC38A1 Gene

Orthologs for SLC38A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC38A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC38A1 34 35
  • 98.34 (n)
dog
(Canis familiaris)
Mammalia SLC38A1 34 35
  • 93.98 (n)
cow
(Bos Taurus)
Mammalia SLC38A1 34 35
  • 91.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC38A1 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc38a1 34 16 35
  • 84.74 (n)
rat
(Rattus norvegicus)
Mammalia Slc38a1 34
  • 84.33 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC38A1 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC38A1 34 35
  • 81.1 (n)
lizard
(Anolis carolinensis)
Reptilia SLC38A1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc38a1 34
  • 71.26 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT2 35
  • 21 (a)
OneToMany
Species where no ortholog for SLC38A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SLC38A1 Gene

ENSEMBL:
Gene Tree for SLC38A1 (if available)
TreeFam:
Gene Tree for SLC38A1 (if available)

Paralogs for SLC38A1 Gene

Paralogs for SLC38A1 Gene

(5) SIMAP similar genes for SLC38A1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC38A1: view

Variants for SLC38A1 Gene

Sequence variations from dbSNP and Humsavar for SLC38A1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000036008 -- 46,243,133(+) TAGGT(C/T)TGGTA intron-variant
rs1000055679 -- 46,218,508(+) TAAGA(A/G)GAGCA intron-variant
rs1000071082 -- 46,215,209(+) GCATC(A/C)CCCGC intron-variant
rs1000085585 -- 46,249,316(+) GAATC(A/T)CTGGG intron-variant
rs1000125403 -- 46,207,303(+) AAAAA(G/T)TTATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC38A1 Gene

Variant ID Type Subtype PubMed ID
esv26431 CNV loss 19812545
esv2669725 CNV deletion 23128226
esv3308589 CNV mobile element insertion 20981092
esv3324068 CNV insertion 20981092
esv3629399 CNV loss 21293372
nsv826360 CNV loss 20364138
nsv832398 CNV gain 17160897

Variation tolerance for SLC38A1 Gene

Residual Variation Intolerance Score: 21.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC38A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC38A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC38A1 Gene

Disorders for SLC38A1 Gene

Relevant External Links for SLC38A1

Genetic Association Database (GAD)
SLC38A1
Human Genome Epidemiology (HuGE) Navigator
SLC38A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC38A1

No disorders were found for SLC38A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC38A1 Gene

Publications for SLC38A1 Gene

  1. Cloning and functional expression of ATA1, a subtype of amino acid transporter A, from human placenta. (PMID: 10891391) Wang H. … Ganapathy V. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. SNAT1 and a family with high rates of suicidal behavior. (PMID: 19442705) Ernst C. … Turecki G. (Neuroscience 2009) 3 22 64
  4. Activation of a system A amino acid transporter, ATA1/SLC38A1, in human hepatocellular carcinoma and preneoplastic liver tissues. (PMID: 17549407) Kondoh N. … Yamamoto M. (Int. J. Oncol. 2007) 3 22 64
  5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4 64

Products for SLC38A1 Gene

Sources for SLC38A1 Gene

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