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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC38A1 Gene

protein-coding   GIFtS: 56
GCID: GC12M046576

solute carrier family 38, member 1
 Explore 8 diseases affiliated with
SLC38A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC38A1    

Aliases
for SLC38A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 38, Member 11 2     System N Amino Acid Transporter 12 3
ATA11 2 3     SNAT12 3
NAT21 2 3     N-System Amino Acid Transporter 22 3
SAT11 2 3     Amino Acid Transporter System A12
Amino Acid Transporter A12 3     Sodium-Coupled Neutral Amino Acid Transporter 12
System A Amino Acid Transporter 12 3     Solute Carrier Family 38 Member 13

External Ids:    HGNC: 134471   Entrez Gene: 815392   Ensembl: ENSG000001113717   OMIM: 6084905   UniProtKB: Q9H2H93   

Export aliases for SLC38A1 gene to outside databases

Previous GC identifers: GC12M046658 GC12M046474 GC12M046298 GC12M044867 GC12M043608


Summaries
for SLC38A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC38A1:
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)

UniProtKB/Swiss-Prot: S38A1_HUMAN, Q9H2H9
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

Gene Wiki entry for SLC38A1


Genomic Views
for SLC38A1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC38A1 gene promoter:
         Oct-B1   POU2F2 (Oct-2.1)   oct-B3   oct-B2   POU3F2   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC38A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC38A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC38A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.11   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q13.11

SLC38A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC38A1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M046576:  view genomic region     (about GC identifiers)

Start:
 46,576,838 bp from pter      End:
 46,663,800 bp from pter
Size:
 86,963 bases      Orientation:
 minus strand

Proteins
for SLC38A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: S38A1_HUMAN, Q9H2H9 (See protein sequence)
Recommended Name: Sodium-coupled neutral amino acid transporter 1  
Size: 487 amino acids; 54048 Da
Subcellular location: 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)
Sequence caution: Sequence=AAG44546.1; Type=Frameshift; Positions=443; Sequence=BAC11186.1; Type=Erroneous initiation;
Secondary accessions: Q8NC61 Q8NCF8 Q96JX2 Q9H2Q2

Explore the universe of human proteins at neXtProt for SLC38A1: NX_Q9H2H9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H2H9

    • SLC38A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001070952.1  NP_109599.3  

    ENSEMBL proteins: 
     ENSP00000449607   ENSP00000398142   ENSP00000381634   ENSP00000447853   ENSP00000449756  
     ENSP00000449744  
    Reactome Protein details: Q9H2H9
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SLC38A1
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    Novus Biologicals SLC38A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC38A1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane NAS10891391
    GO:0030424axon IEA--


    SLC38A1 for ontologies           About GeneDecksing



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    Uscn Antibodies for SLC38A1
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    Uscn ELISAs and CLIAs for SLC38A1

    Protein Domains /
    Families
    for SLC38A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC38A1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR013057 AA_transpt_TM

    Graphical View of Domain Structure for InterPro Entry Q9H2H9

    ProtoNet protein and cluster: Q9H2H9

    UniProtKB/Swiss-Prot: S38A1_HUMAN, Q9H2H9
    Similarity: Belongs to the amino acid/polyamine transporter 2 family


    Function
    for SLC38A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: S38A1_HUMAN, Q9H2H9
    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
    Enzyme regulation: Inhibited by potassium, choline ions and 2-methylamino-isobutyric acid (MeAIB) (By similarity).
    Inhibited by lithium and N-methyl-D-glucamine
    Biophysicochemical properties: Kinetic parameters: KM=890 uM for 2-methylamino-isobutyric acid (MeAIB) (at pH 8.5);
    Induction: Down-regulated by bacterial lipopolysaccharides (LPS) in glial cells. Down-regulated upon hypoxia

    miRNA
    Products:            		miRTarBase miRNAs that target SLC38A1:
    hsa-mir-16 (MIRT001414), hsa-mir-30a (MIRT005141)

    OriGene 3'-UTR Clone (see all 2): SLC38A1
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    8/106 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC38A1 (see all 106):
    hsa-miR-607 hsa-miR-520e hsa-miR-3607-3p hsa-miR-300 hsa-miR-146a hsa-miR-199a-3p hsa-miR-3138 hsa-miR-30d
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: SLC38A1
    OriGene siRNA: SLC38A1
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005283sodium:amino acid symporter activity NAS10891391
    GO:0015175neutral amino acid transmembrane transporter activity NAS10891391
    GO:0015186L-glutamine transmembrane transporter activity IEA--


    SLC38A1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for SLC38A1:
     G0/1 arrest  Increased G1 DNA content 


    Pathways & Interactions
    for SLC38A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amino acid and oligopeptide SLC transporters
    		Amino acid and oligopeptide SLC transporters1.00
    		Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    		Amino acid transport across the plasma membrane0.63
    2SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transmembrane transport of small molecules0.50
    3Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67
    4Neurotransmitter uptake and Metabolism In Glial Cells
    		Astrocytic Glutamate-Glutamine Uptake And Metabolism1.00
    		Neurotransmitter uptake and Metabolism In Glial Cells1.00
    5Synaptic Vesicle Pathway
    		Synaptic Vesicle Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for SLC38A1 
        Synaptic Vesicle Pathway

    5/9        Reactome Pathways for SLC38A1 (see all 9)
        Transmission across Chemical Synapses
    Amino acid transport across the plasma membrane
    Neuronal System
    Neurotransmitter uptake and Metabolism In Glial Cells
    SLC-mediated transmembrane transport


    1         Kegg Pathway  (Kegg details for SLC38A1):
        Glutamatergic synapse


    SLC38A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC38A1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for SLC38A1 (ENSP000003816344) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLULENSP000003079004STRING: ENSP00000307900
    UBCENSP000003448184STRING: ENSP00000344818
    COL6A2ENSP000003005274STRING: ENSP00000300527
    HMGN1ENSP000003701254STRING: ENSP00000370125
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001504neurotransmitter uptake TAS--
    GO:0006811ion transport TAS--
    GO:0006865amino acid transport TAS--
    GO:0006868glutamine transport ----
    GO:0007268synaptic transmission TAS--


    SLC38A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC38A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC38A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for SLC38A1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    N1,N11-Diethylnorspermine tetrahydrochloride Spermine and spermidine acetyltransferase potentiator[121749-39-1]

    2 HMDB Compounds for SLC38A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    LithiumLi (see all 5)7439-93-2--
    SodiumSodium (see all 2)7440-23-5--
    1 Novoseek chemical compound relationship for SLC38A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 59.2 10 20161990 (3), 19442705 (1), 11788594 (1), 15094455 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC38A1 / S38A1 

    Transcripts
    for SLC38A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SLC38A1 gene (2 alternative transcripts): 
    NM_001077484.1  NM_030674.3  

    Unigene Cluster for SLC38A1:

    Solute carrier family 38, member 1
    Hs.533770  [show with all ESTs]
    Unigene Representative Sequence: NM_030674
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000549049 ENST00000439706(uc001rpa.3 uc001rpd.3) ENST00000398637(uc001rpb.3 uc001rpc.3 uc001rpe.3)
    ENST00000546893(uc010slh.2) ENST00000552197(uc009zkj.1) ENST00000548979
    ENST00000549633 ENST00000551506 ENST00000550173 ENST00000546519

    miRNA
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    8/106 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC38A1 (see all 106):
    hsa-miR-607 hsa-miR-520e hsa-miR-3607-3p hsa-miR-300 hsa-miR-146a hsa-miR-199a-3p hsa-miR-3138 hsa-miR-30d
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AF247166.1 AF271070.1 AK024263.1 AK025900.1 AK027825.1 AK056670.1 AK074758.1 AK074797.1 
    AK074851.1 AK074949.1 AK225639.1 AK225778.1 AK308129.1 AK309410.1 AK313731.1 BC010620.1 
    BX647547.1 BX648495.1 BX648676.1 S77359.1 

    24/35 DOTS entries (see all 35):

    DT.100812282  DT.92430554  DT.449187  DT.121196510  DT.86847462  DT.100812286  DT.317442  DT.121196485 
    DT.95170694  DT.95237493  DT.310015  DT.121196450  DT.91939033  DT.95322651  DT.121196511  DT.121643303 
    DT.121196471  DT.121196505  DT.95117812  DT.121196464  DT.440920  DT.95117808  DT.97860470  DT.100812281 

    24/641 AceView cDNA sequences (see all 641):

    AK130314 BP356047 BM128752 AI867588 AI580177 CR594705 AI272731 N63431 
    AA190485 CA310717 BP363988 BU734172 BG622776 AA768225 BX648676 D63295 
    AK074949 AI124074 BQ020850 CR595454 AI472450 AI077493 CB155321 N93208 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC38A1    About this scheme

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


    ECgene alternative splicing isoforms for SLC38A1

    Expression
    for SLC38A1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC38A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACCACACTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC38A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    EyeInner Nuclear LayerGABAergic Amacrine CellsAmacrine, Retina
    EyeInner Nuclear LayerMature Rod Bipolar CellsBipolar, Retina
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    KidneyS-shaped BodyKidney Endothelial CellsEndothelium
    TestisSeminiferous TubulesSertoli cellsTestis
    EyeRetinaEye
    Gut TubeMidgutGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

    See SLC38A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC38A1

    SOURCE GeneReport for Unigene cluster: Hs.533770

    UniProtKB/Swiss-Prot: S38A1_HUMAN, Q9H2H9
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC38A1: 
              GABA & Glutamate in human mouse rat
              Oxidative Stress in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for SLC38A1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC38A1 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC38A11 solute carrier family 38, member 1 81.1(n)
    88.04(a)    		   417806  NM_001199603.1  NP_001186532.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC38A16
    		 --
    		 86(a)
    		 1 ↔ 1
    		 5(53500701-53541741)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G303901 Transmembrane amino acid transporter family protein 43.38(n)
    31.37(a)    		   822740  NM_001035718.1  NP_001030795.1 
    rice
    (Oryza sativa)    		 Liliopsida Os06g02758001 hypothetical protein 42.45(n)
    31.77(a)    		   4340751  NM_001063917.1  NP_001057382.1 


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

    Paralogs
    for SLC38A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC38A1 gene
    SLC38A42  SLC38A62  SLC38A22  SLC38A52  SLC38A112  SLC38A102  
    5 SIMAP similar genes for SLC38A1 using alignment to 3 protein entries:     S38A1_HUMAN (see all proteins):
    SLC38A2    SLC38A6    SLC38A3    SLC38A5    SLC38A4

    SLC38A1 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC38A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1412 NCBI SNPs in SLC38A1 are shown (see all 1412)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs354863111,2
    		C,F,--46576477(+) GAAGTG/ATTGAT 2 -- ds50014Minor allele frequency- A:0.06NA WA 124
    rs1917475361,2
    		--46576523(+) TAGAGC/GAAGAC 2 -- ds50010--------
    rs1827098271,2
    		--46576540(+) CCTTCC/TTACAA 2 -- ds50010--------
    rs1171107701,2
    		F,--46576543(+) TCCTAC/AAACAC 2 -- ds50011Minor allele frequency- A:0.05NA 120
    rs1881836831,2
    		--46576553(+) CAGGGA/CAGAAA 2 -- ds50010--------
    rs1931750801,2
    		--46576569(+) ACTTAC/TAAAGG 2 -- ds50010--------
    rs353696181,2
    		C,--46576673(+) CTATCA/CGAAGT 2 -- ds50013Minor allele frequency- C:0.04NA WA 240
    rs13485721,2
    		C,F,A,--46576685(-) ATTTTA/TAAAAA 2 -- ds50018Minor allele frequency- T:0.37NA WA CSA EA 368
    rs745997861,2
    		C--46576696(+) ATTTAC/TGTTAG 2 -- ds50010--------
    rs1854168951,2
    		--46576719(+) TATAAC/TCTTCT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC38A1 (46576838 - 46663800 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SLC38A1
         1 CNV: 86360
         2 Indels: 66216 76030

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    Disorders / Diseases
    for SLC38A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC38A1 for disorders           About GeneDecksing

    OMIM gene information: 608490    OMIM disorders: --

    8 diseases for SLC38A1:    About MalaCards
    klatskin's tumor    malignant glioma    hepatocellular carcinoma    cholangiocarcinoma
    cerebritis    hypoxia    carcinoma    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: SLC38A1 (2 documents)

    Export disorders for SLC38A1 gene to outside databases

    Publications
    for SLC38A1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC38A1 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with SLC38A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional expression of ATA1, a subtype of amino acid transporter A, from human placenta. (PubMed id 10891391)1, 2, 3 Wang H....Ganapathy V. (2000)
    2. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    3. Localization of the glutamine transporter SNAT1 in rat cerebral cortex and neighboring structures, with a note on its localization in human cortex. (PubMed id 15054072)1, 2 Melone M....Conti F. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. SNAT1 and a family with high rates of suicidal behavi or. (PubMed id 19442705)1, 9 Ernst C....Turecki G. (2009)
    6. Activation of a system A amino acid transporter, ATA1/SLC38A1, in human hepatocellular carcinoma and preneoplastic liver tissues. (PubMed id 17549407)1, 9 Kondoh N....Yamamoto M. (2007)
    7. Exacerbated vulnerability to oxidative stress in astr ocytic C6 glioma cells with stable overexpression of the glutamine transporter slc38a1. (PubMed id 21219957)1 Ogura M....Yoneda Y. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Overexpression of ATA1/SLC38A1 predicts future recurr ence and death in Chinese patients with hilar cholangiocarcinoma. (PubMed id 20605601)1 Yu W.L....Yu G. (2011)
    10. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)

    External Searches for SLC38A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing SLC38A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 81539 HGNC: 13447 AceView: SLC38A1 Ensembl:ENSG00000111371 euGenes: HUgn81539
    ECgene: SLC38A1 Kegg: 81539 H-InvDB: SLC38A1

    Other Databases showing SLC38A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC38A1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC38A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC38A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC38A1 gene:
    Search GeneIP for patents involving SLC38A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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