Human Gene SLC38A4 (uc001rpj.2)
  Description: Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 2, mRNA.
RefSeq Summary (NM_001143824): 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].
Transcript (Including UTRs)
   Position: hg19 chr12:47,158,544-47,219,780 Size: 61,237 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr12:47,160,484-47,186,854 Size: 26,371 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:47,158,544-47,219,780)mRNA (may differ from genome)Protein (547 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S38A4_HUMAN
DESCRIPTION: RecName: Full=Sodium-coupled neutral amino acid transporter 4; AltName: Full=Amino acid transporter A3; AltName: Full=Na(+)-coupled neutral amino acid transporter 4; AltName: Full=Solute carrier family 38 member 4; AltName: Full=System A amino acid transporter 3; AltName: Full=System N amino acid transporter 3;
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.
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 7.5-8.5;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
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.
SIMILARITY: Belongs to the amino acid/polyamine transporter 2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC38A4
CDC HuGE Published Literature: SLC38A4
Positive Disease Associations: Arteries , Diabetes Mellitus , Glucose , Myocardial Infarction , Prostatic Neoplasms
Related Studies:
  1. Arteries
    , , . [PubMed 0]
  2. Diabetes Mellitus
    , , . [PubMed 0]
  3. Glucose
    , , . [PubMed 0]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 101.01 RPKM in Liver
Total median expression: 126.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -70.90207-0.343 Picture PostScript Text
3' UTR -449.801940-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013057 - AA_transpt_TM

Pfam Domains:
PF01490 - Transmembrane amino acid transporter protein

ModBase Predicted Comparative 3D Structure on Q969I6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015171 amino acid transmembrane transporter activity
GO:0015293 symporter activity

Biological Process:
GO:0003333 amino acid transmembrane transport
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0006865 amino acid transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB055003 - Homo sapiens hATA3 mRNA for system A amino acid transporter 3, complete cds.
AF305814 - Homo sapiens amino acid transporter system A3 (ATA3) mRNA, complete cds.
AK001053 - Homo sapiens cDNA FLJ10191 fis, clone HEMBA1004756, weakly similar to Human transporter protein mRNA.
AK291168 - Homo sapiens cDNA FLJ76186 complete cds, highly similar to Homo sapiens solute carrier family 38, member 4 (SLC38A4), mRNA.
AF193836 - Homo sapiens amino acid transporter hNAT3 mRNA, complete cds.
BC069819 - Homo sapiens solute carrier family 38, member 4, mRNA (cDNA clone MGC:97157 IMAGE:7262399), complete cds.
BC104913 - Homo sapiens solute carrier family 38, member 4, mRNA (cDNA clone MGC:132573 IMAGE:8143916), complete cds.
BC101827 - Homo sapiens solute carrier family 38, member 4, mRNA (cDNA clone MGC:126876 IMAGE:8069333), complete cds.
KJ899073 - Synthetic construct Homo sapiens clone ccsbBroadEn_08467 SLC38A4 gene, encodes complete protein.
JD236940 - Sequence 217964 from Patent EP1572962.
JD084943 - Sequence 65967 from Patent EP1572962.
JD502239 - Sequence 483263 from Patent EP1572962.
JD051296 - Sequence 32320 from Patent EP1572962.
JD081697 - Sequence 62721 from Patent EP1572962.
JD427230 - Sequence 408254 from Patent EP1572962.
JD062268 - Sequence 43292 from Patent EP1572962.
JD102598 - Sequence 83622 from Patent EP1572962.
JD349881 - Sequence 330905 from Patent EP1572962.
JD304335 - Sequence 285359 from Patent EP1572962.
JD042408 - Sequence 23432 from Patent EP1572962.
JD408201 - Sequence 389225 from Patent EP1572962.
JD523488 - Sequence 504512 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q969I6 (Reactome details) participates in the following event(s):

R-HSA-352136 SLC38A4 (ATA3)-mediated uptake of arginine and lysine
R-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-425374 Amino acid and oligopeptide SLC transporters
R-HSA-425393 Metabolism of nitrogenous molecules
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A8K553, ATA3, NAT3, NM_001143824, NP_060488, Q969I6, S38A4_HUMAN, SNAT4
UCSC ID: uc001rpj.2
RefSeq Accession: NM_001143824
Protein: Q969I6 (aka S38A4_HUMAN)
CCDS: CCDS8750.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001143824.1
exon count: 16CDS single in 3' UTR: no RNA size: 3807
ORF size: 1644CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 3404.00frame shift in genome: no % Coverage: 99.58
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.