SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008] See more...

Aliases for SLC38A4 Gene

Aliases for SLC38A4 Gene

  • Solute Carrier Family 38 Member 4 2 3 4 5
  • ATA3 2 3 4
  • NAT3 2 3 4
  • Sodium-Coupled Neutral Amino Acid Transporter 4 3 4
  • Na(+)-Coupled Neutral Amino Acid Transporter 4 3 4
  • System A Amino Acid Transporter 3 3 4
  • System N Amino Acid Transporter 3 3 4
  • Amino Acid Transporter A3 3 4
  • SNAT4 3 4
  • PAAT 2 3
  • Solute Carrier Family 38, Member 4 2
  • Amino Acid Transporter System A3 3
  • N Amino Acid Transporter 3 3
  • SLC38A4 5

External Ids for SLC38A4 Gene

Previous GeneCards Identifiers for SLC38A4 Gene

  • GC12M047138
  • GC12M046875
  • GC12M045444
  • GC12M044189

Summaries for SLC38A4 Gene

Entrez Gene Summary for SLC38A4 Gene

  • SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC38A4 Gene

SLC38A4 (Solute Carrier Family 38 Member 4) is a Protein Coding gene. Diseases associated with SLC38A4 include Loeys-Dietz Syndrome 2 and Tricuspid Valve Insufficiency. 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. Gene Ontology (GO) annotations related to this gene include symporter activity and amino acid transmembrane transporter activity. An important paralog of this gene is SLC38A2.

UniProtKB/Swiss-Prot Summary for SLC38A4 Gene

  • Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by His, Cys, Asn, Ser, Gly, Val, Thr, Gln and Met. May mediate sodium-independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH-dependent, with low transport activities at pH 6.5, intermediate at pH 7.0 and highest between pH 7.5 and 8.5.

Additional gene information for SLC38A4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC38A4 Gene

Genomics for SLC38A4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC38A4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J046825 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.4 +6.5 6513 1 GATAD2A PRDM1 ZIC2 RXRB IRF2 CTCF SP1 ZNF341 CEBPA KMT2B SLC38A4 piR-50443-077 SLC38A2 ENSG00000257261
GH12J047020 Promoter/Enhancer 0.7 EPDnew Ensembl 610.3 -188.2 -188156 0.8 SCRT2 CEBPB CTCF SLC38A4 L13714-084 lnc-PCED1B-12 PCED1B
GH12J046803 Promoter 0.7 EPDnew 600.3 +28.8 28751 0.1 REST SP1 FOXA2 ATF3 YY1 ZBTB33 JUND RXRA HNF4A TAF1 SLC38A4 piR-50443-077 ENSG00000257261 SLC38A2
GH12J046832 Promoter 0.6 EPDnew 600.7 0.0 -20 0.1 SP1 USF1 RXRA HNF4A EGR1 EZH2 SLC38A4 piR-39300-034 PCED1B ENSG00000257261
GH12J045983 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.2 +844.2 844192 9.9 RNF2 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 REST SCAF11 ENSG00000273015 KNOP1P2 ARID2 ENSG00000258096 SLC38A2 SLC38A4 lnc-ARID2-14 lnc-SLC38A1-7 MN309458
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC38A4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC38A4

Top Transcription factor binding sites by QIAGEN in the SLC38A4 gene promoter:
  • ARP-1
  • C/EBPalpha
  • Cdc5
  • Evi-1
  • FOXO4
  • HSF2
  • Nkx6-1
  • POU2F1
  • POU2F1a
  • YY1

Genomic Locations for SLC38A4 Gene

Genomic Locations for SLC38A4 Gene
chr12:46,764,761-46,832,422
(GRCh38/hg38)
Size:
67,662 bases
Orientation:
Minus strand
chr12:47,158,544-47,226,191
(GRCh37/hg19)
Size:
67,648 bases
Orientation:
Minus strand

Genomic View for SLC38A4 Gene

Genes around SLC38A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC38A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC38A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC38A4 Gene

Proteins for SLC38A4 Gene

  • Protein details for SLC38A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969I6-S38A4_HUMAN
    Recommended name:
    Sodium-coupled neutral amino acid transporter 4
    Protein Accession:
    Q969I6
    Secondary Accessions:
    • A8K553

    Protein attributes for SLC38A4 Gene

    Size:
    547 amino acids
    Molecular mass:
    60764 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC38A4 Gene

Post-translational modifications for SLC38A4 Gene

  • The disulfide bond plays an important role in substrate transport, but has no effect on trafficking to the cell surface.
  • Glycosylation at Asn260, Asn264, and Asn276
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC38A4 Gene

Antibody Products

  • Abcam antibodies for SLC38A4
  • Boster Bio Antibodies for SLC38A4
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC38A4

No data available for DME Specific Peptides for SLC38A4 Gene

Domains & Families for SLC38A4 Gene

Gene Families for SLC38A4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC38A4 Gene

InterPro:
Blocks:
  • Ribosomal protein L30
ProtoNet:

Suggested Antigen Peptide Sequences for SLC38A4 Gene

GenScript: Design optimal peptide antigens:
  • System N amino acid transporter 3 (S38A4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q969I6

UniProtKB/Swiss-Prot:

S38A4_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 SLC38A4: view

Function for SLC38A4 Gene

Molecular function for SLC38A4 Gene

UniProtKB/Swiss-Prot Function:
Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by His, Cys, Asn, Ser, Gly, Val, Thr, Gln and Met. May mediate sodium-independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH-dependent, with low transport activities at pH 6.5, intermediate at pH 7.0 and highest between pH 7.5 and 8.5.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.5-8.5. {ECO:0000269|PubMed:11342143};

Phenotypes From GWAS Catalog for SLC38A4 Gene

Gene Ontology (GO) - Molecular Function for SLC38A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC38A4: view
genes like me logo Genes that share phenotypes with SLC38A4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC38A4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC38A4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC38A4 Gene

Localization for SLC38A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC38A4 Gene

Cell membrane. Multi-pass membrane protein.

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 SLC38A4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC38A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC38A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC38A4 Gene

Pathways & Interactions for SLC38A4 Gene

genes like me logo Genes that share pathways with SLC38A4: view

Gene Ontology (GO) - Biological Process for SLC38A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA 21873635
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006865 amino acid transport TAS --
genes like me logo Genes that share ontologies with SLC38A4: view

No data available for SIGNOR curated interactions for SLC38A4 Gene

Drugs & Compounds for SLC38A4 Gene

(5) Drugs for SLC38A4 Gene - From: DrugBank, DGIdb, and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparagine Approved, Investigational Nutra Target, inhibitor 36
[<sup>14</sup>C]alanine Pharma 0
[<sup>14</sup>C]glycine Pharma 0
[<sup>3</sup>H]alanine Pharma 0
[<sup>3</sup>H]glycine Pharma 0

(1) Additional Compounds for SLC38A4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC38A4: view

Transcripts for SLC38A4 Gene

mRNA/cDNA for SLC38A4 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC38A4

Alternative Splicing Database (ASD) splice patterns (SP) for SLC38A4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d
SP1: -
SP2: - -
SP3: -
SP4: -

Relevant External Links for SLC38A4 Gene

GeneLoc Exon Structure for
SLC38A4

Expression for SLC38A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC38A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC38A4 Gene

This gene is overexpressed in Liver (x43.2).

Protein differential expression in normal tissues from HIPED for SLC38A4 Gene

This gene is overexpressed in Brain (41.4), Liver (17.5), and Fetal Liver (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC38A4 Gene



Protein tissue co-expression partners for SLC38A4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC38A4

SOURCE GeneReport for Unigene cluster for SLC38A4 Gene:

Hs.446077

mRNA Expression by UniProt/SwissProt for SLC38A4 Gene:

Q969I6-S38A4_HUMAN
Tissue specificity: Detected in embryonic and adult liver, and at lower levels in adult muscle, kidney and pancreas. Detected in placenta syncytiotrophoblasts throughout gestation. Detected in fetal blood vessels.

Evidence on tissue expression from TISSUES for SLC38A4 Gene

  • Liver(4.7)
  • Skin(2.4)
  • Kidney(2.4)
  • Muscle(2.2)
  • Heart(2.2)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with SLC38A4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC38A4 Gene

Orthologs for SLC38A4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC38A4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC38A4 30 31
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATA3 31
  • 94 (a)
OneToOne
SLC38A4 30
  • 91.53 (n)
Dog
(Canis familiaris)
Mammalia SLC38A4 30 31
  • 92.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC38A4 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc38a4 30
  • 83.24 (n)
Mouse
(Mus musculus)
Mammalia Slc38a4 30 17 31
  • 82.51 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC38A4 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC38A4 30 31
  • 76.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC38A4 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100145209 30
  • 71.48 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc38a4 30 31
  • 66.42 (n)
OneToOne
wufd51c05 30
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G80510 30
  • 43.24 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0644700 30
  • 43.86 (n)
Species where no ortholog for SLC38A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SLC38A4 Gene

ENSEMBL:
Gene Tree for SLC38A4 (if available)
TreeFam:
Gene Tree for SLC38A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC38A4: view image

Paralogs for SLC38A4 Gene

(5) SIMAP similar genes for SLC38A4 Gene using alignment to 4 proteins:

  • S38A4_HUMAN
  • F8VQY9_HUMAN
  • F8VRD9_HUMAN
  • H0YHZ8_HUMAN
genes like me logo Genes that share paralogs with SLC38A4: view

Variants for SLC38A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC38A4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
768539 Benign: not provided 46,788,026(-) G/A SYNONYMOUS_VARIANT
rs11183610 - p.Thr366Met
rs2429467 - p.Gly29Arg

Additional dbSNP identifiers (rs#s) for SLC38A4 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC38A4 Gene

Variant ID Type Subtype PubMed ID
esv2607065 CNV deletion 19546169
esv2745849 CNV deletion 23290073
nsv435639 CNV deletion 17901297
nsv826361 CNV loss 20364138

Variation tolerance for SLC38A4 Gene

Residual Variation Intolerance Score: 73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.92; 79.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC38A4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC38A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC38A4 Gene

Disorders for SLC38A4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC38A4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
loeys-dietz syndrome 2
  • lds2
tricuspid valve insufficiency
  • tricuspid incompetence
loeys-dietz syndrome
  • furlong syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC38A4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC38A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC38A4 Gene

Publications for SLC38A4 Gene

  1. Evidence for the transport of neutral as well as cationic amino acids by ATA3, a novel and liver-specific subtype of amino acid transport system A. (PMID: 11342143) Hatanaka T … Ganapathy V (Biochimica et biophysica acta 2001) 3 4 23
  2. A novel human amino acid transporter, hNAT3: cDNA cloning, chromosomal mapping, genomic structure, expression, and functional characterization. (PMID: 11414754) Gu S … Jiang JX (Genomics 2001) 2 3 4
  3. Membrane topological structure of neutral system N/A amino acid transporter 4 (SNAT4) protein. (PMID: 21917917) Shi Q … Jiang JX (The Journal of biological chemistry 2011) 3 4
  4. SNAT4 isoform of system A amino acid transporter is expressed in human placenta. (PMID: 16148032) Desforges M … Sibley CP (American journal of physiology. Cell physiology 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for SLC38A4 Gene

Sources for SLC38A4 Gene