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

SLC38A1 Gene

protein-coding   GIFtS: 57
GCID: GC12M046576

Solute Carrier Family 38, Member 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 38, Member 11 2     SAT12 3
Amino Acid Transporter A12 3     SNAT12 3
System A Amino Acid Transporter 12 3     N-System Amino Acid Transporter 22 3
System N Amino Acid Transporter 12 3     Amino Acid Transporter System A12
ATA12 3     Sodium-Coupled Neutral Amino Acid Transporter 12
NAT22 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


(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 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. Diseases associated with SLC38A1 include klatskin's tumor, and malignant glioma, and among its related super-pathways are Amino acid transport across the plasma membrane and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. 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: 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  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 plasmidSLC38A1 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SLC38A1 at MOPED 

Post-translational modifications:

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

  • SLC38A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC38A1 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001070952.1  NP_001265316.1  NP_001265317.1  NP_001265318.1  NP_001265319.1  NP_109599.3  

    ENSEMBL proteins: 
     ENSP00000381634   ENSP00000449607   ENSP00000398142   ENSP00000447853   ENSP00000449756  
     ENSP00000449744  
    Reactome Protein details: Q9H2H9
    Human Recombinant Protein Products for SLC38A1: 
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    Novus Biologicals SLC38A1 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane NAS10891391
    GO:0030424axon IEA--

    SLC38A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: SNAT1 
    System A-like transporters

    1 InterPro protein domain:
     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


    SLC38A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC38A1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC38A1 
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    miRNA
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    miRTarBase miRNAs that target SLC38A1:
    hsa-mir-16 (MIRT001414), hsa-mir-30a (MIRT005141)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC38A1
    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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC38A1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC38A1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Amino acid and oligopeptide SLC transporters
    Amino acid and oligopeptide SLC transporters0.63
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    Amino acid transport across the plasma membrane0.63
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    3Circadian entrainment
    GABAergic synapse0.53
    Glutamatergic synapse0.39
    4SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    5Neurotransmitter uptake and Metabolism In Glial Cells
    Astrocytic Glutamate-Glutamine Uptake And Metabolism1.00
    Neurotransmitter uptake and Metabolism In Glial Cells1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    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


    2         Kegg Pathways  (Kegg details for SLC38A1):
        Glutamatergic synapse
    GABAergic 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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 #
    YM 750Acyl-CoA:cholesterol acyltransferase (ACAT) inhibitor[138046-43-2]
    VULM 1457Acyl-CoA: cholesterol acyltransferase (ACAT) inhibitor[228544-65-8]
    N1,N11-Diethylnorspermine tetrahydrochloride Spermine and spermidine acetyltransferase potentiator[121749-39-1]
    (R)-(+)-Etomoxir sodium saltCarnitine palmitoyltransferase I (CPT1) inhibitor[828934-41-4]
    A 922500Diacylglycerol acyltransferase 1 (DGAT-1) inhibitor[959122-11-3]

    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--

    2 IUPHAR Ligands for SLC38A1 (SNAT1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [3H]alanine
    NoneNone--
    [14C]alanine
    NoneNone--

    1 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC38A1 gene (6 alternative transcripts): 
    NM_001077484.1  NM_001278387.1  NM_001278388.1  NM_001278389.1  NM_001278390.1  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:
    ENST00000398637(uc001rpb.3 uc001rpc.3 uc001rpe.3) ENST00000549049
    ENST00000439706(uc001rpa.3 uc001rpd.3) ENST00000546893(uc010slh.2)
    ENST00000552197(uc009zkj.1) ENST00000548979 ENST00000549633 ENST00000551506
    ENST00000550173 ENST00000546519
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    Additional mRNA 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):

    AA190485 AA530864 AA935806 BC010620 BM771900 BQ019472 BX490364 AI867588 
    BM128752 BX648676 AK056670 CA310717 AI697032 AK074949 T31692 N63431 
    AA768225 CR594705 BM469673 CB155321 AA425374 BM760133 AW079003 AW613010 

    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

    (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)      SLC38A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCACACTA
    SLC38A1 Expression
    About this image


    SLC38A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Endothelial Cells Blood Brain Barrier
             ganglion/cranial/facial VII   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
             autonomic/sympathetic/ganglion   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature Rod Bipolar Cells Inner Nuclear Layer
             Retina
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Pre-Sertoli Cells Testis Cord
     
     Blood Brain Barrier (Nervous System)
             Endothelial Cells Blood Brain Barrier

    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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    (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 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc38a11 , 5 solute carrier family 38, member 11, 5 84.74(n)1
    93.4(a)1
      15 (52.53 cM)5
    1057271  NM_134086.41  NP_598847.21 
     965714185 
    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
    Uncharacterized protein
    86(a)
    1 ↔ 1
    5(53479494-53541741)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AVT26
    Putative transporter, member of a family of seven ...
    19(a)
    1 → many
    V(29797-31239)
    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 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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/1685 SNPs in SLC38A1 are shown (see all 1685)    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
    C,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
         Database of Genomic Variants (DGV) 5 variations for SLC38A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669725CNV Deletion23128226
    esv272862CNV Insertion20981092
    esv26431CNV Loss19812545
    nsv826360CNV Loss20364138
    nsv832398CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608490    OMIM disorders: --

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


    SLC38A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC38A1
    Human Genome Epidemiology (HuGE) Navigator: SLC38A1 (2 documents)

    Export disorders for SLC38A1 gene to outside databases

    (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 37):
    (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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    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. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. SNAT1 and a family with high rates of suicidal behavi or. (PubMed id 19442705)1, 9 Ernst C....Turecki G. (2009)
    7. 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)
    8. 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)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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