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

SLC36A1 Gene

protein-coding   GIFtS: 54
GCID: GC05P150807

Solute Carrier Family 36 (Proton/Amino Acid Symporter),...

  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 36 (Proton/Amino Acid Symporter), Member 11 2     LYAAT12 5
PAT12 3 5     Dct12
Proton/Amino Acid Transporter 12 3     TRAMD32
Solute Carrier Family 36 Member 12 3     Lysosomal Amino Acid Transporter 12
hPAT12 3     Proton-Coupled Amino Acid Transporter 12

External Ids:    HGNC: 187611   Entrez Gene: 2063582   Ensembl: ENSG000001236437   OMIM: 6065615   UniProtKB: Q7Z2H83   

Export aliases for SLC36A1 gene to outside databases

Previous GC identifers: GC05P151413 GC05P150799 GC05P150845 GC05P150855 GC05P145972


(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 SLC36A1 Gene:
This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The
encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with
related family members on chromosome 5q33.1. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC36A1 Gene: 
SLC36A1 (solute carrier family 36 (proton/amino acid symporter), member 1) is a protein-coding gene. Diseases associated with SLC36A1 include iminoglycinuria, and allan-herndon-dudley syndrome, and among its related super-pathways are Amino acid transport across the plasma membrane and Transmembrane transport of small molecules. GO annotations related to this gene include L-alanine transmembrane transporter activity and symporter activity. An important paralog of this gene is SLC36A4.

UniProtKB/Swiss-Prot: S36A1_HUMAN, Q7Z2H8
Function: Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino
acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognize their
D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity)

Gene Wiki entry for SLC36A1 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_000005.9  NT_029289.11  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC36A1 gene promoter:
         Max1   USF1   AML1a   Pax-2   Pax-2a   Arnt   C/EBPalpha   Max   USF-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC36A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC36A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC36A1


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

Entrez Gene cytogenetic band: 5q33.1   Ensembl cytogenetic band:  5q33.1   HGNC cytogenetic band: 5q33.1

SLC36A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC36A1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P150807:  view genomic region     (about GC identifiers)

Start:
150,816,607 bp from pter      End:
150,871,942 bp from pter
Size:
55,336 bases      Orientation:
plus 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: S36A1_HUMAN, Q7Z2H8 (See protein sequence)
Recommended Name: Proton-coupled amino acid transporter 1  
Size: 476 amino acids; 53076 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity). Lysosome membrane; Multi-pass
membrane protein
Sequence caution: Sequence=BAB71435.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: C9JI34 Q1LZ56 Q7Z7C0 Q86YK4 Q96M74
Alternative splicing: 3 isoforms:  Q7Z2H8-1   Q7Z2H8-3   Q7Z2H8-4   

Explore the universe of human proteins at neXtProt for SLC36A1: NX_Q7Z2H8

Explore proteomics data for SLC36A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z2H8

  • SLC36A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC36A1 Protein Expression
    REFSEQ proteins: NP_510968.2  
    ENSEMBL proteins: 
     ENSP00000429796   ENSP00000428140   ENSP00000395640   ENSP00000243389   ENSP00000427804  
     ENSP00000430305   ENSP00000428471   ENSP00000428738   ENSP00000430181  
    Reactome Protein details: Q7Z2H8
    Human Recombinant Protein Products for SLC36A1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0005765lysosomal membrane IDA17897319
    GO:0005783endoplasmic reticulum IDA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--

    SLC36A1 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: Proton-coupled Amino acid Transporter 1 
    SLC36 family of proton-coupled amino acid transporters

    1 InterPro protein domain:
     IPR013057 AA_transpt_TM

    Graphical View of Domain Structure for InterPro Entry Q7Z2H8

    ProtoNet protein and cluster: Q7Z2H8

    UniProtKB/Swiss-Prot: S36A1_HUMAN, Q7Z2H8
    Similarity: Belongs to the amino acid/polyamine transporter 2 family


    SLC36A1 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: S36A1_HUMAN, Q7Z2H8
    Function: Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino
    acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognize their
    D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity)

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
    GO:0015180L-alanine transmembrane transporter activity IEA--
    GO:0015187glycine transmembrane transporter activity IEA--
    GO:0015193L-proline transmembrane transporter activity IEA--
    GO:0015293symporter activity IEA--
         
    SLC36A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC36A1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC36A1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC36A1 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSLC36A1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC36A1


    (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 SLC36A1 About                                                                                                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
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    3Proton-coupled neutral amino acid transporters
    Proton-coupled neutral amino acid transporters
    4Protein digestion and absorption
    Protein digestion and absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6        Reactome Pathways for SLC36A1 (see all 6)
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Amino acid and oligopeptide SLC transporters
    Amino acid transport across the plasma membrane
    Proton-coupled neutral amino acid transporters


    1         Kegg Pathway  (Kegg details for SLC36A1):
        Protein digestion and absorption


    SLC36A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC36A1

    5/16 Interacting proteins for SLC36A1 (Q7Z2H83) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP6CO007433I2D: score=4 
    CSNK1G2P783683I2D: score=2 
    PAK3O759143I2D: score=2 
    ACACBO007633I2D: score=1 
    CCT2P783713I2D: score=1 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006865amino acid transport TAS--
    GO:0015804neutral amino acid transport ----
    GO:0015808L-alanine transport ----
    GO:0015816glycine transport ----

    SLC36A1 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

    SLC36A1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC36A1 (S36A1)

    7 DrugBank Compounds for SLC36A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--16052352 15058382 14718599 17139284 17016423
    L-Alanine(2S)-2-Aminopropanoic acid (see all 15)56-41-7target--16373326 17139284 17016423
    Acamprosate3-(Acetylamino)propanesulphonic acid (see all 4)77337-76-9transporter--10711343
    D-Proline-- 344-25-2transporter--14718599
    HydroxyprolineL-Hydroxyproline (see all 2)51-35-4transporter--14718599
    Spaglumic AcidN-(N-Acetyl-l-β-aspartyl)-l-glutamic acid (see all 4)4910-46-7transportersubstrate Other16627568
    Vigabatringamma-Vinyl GABA (see all 7)60643-86-9transporter--16331283

    4 IUPHAR Ligands for SLC36A1 (Proton-coupled Amino acid Transporter 1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    5-hydroxy-L-tryptophan
    InhibitorInhibition316126914
    L-tryptophan
    InhibitorInhibition2.316126914
    indole-3-propionic acid
    InhibitorInhibition2.316126914
    5-HT
    InhibitorInhibition2.216126914

    10/13 Novoseek inferred chemical compound relationships for SLC36A1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pat-2 93.7 5 12809675 (2), 15291811 (1), 12748860 (1)
    alpha-(methylamino)-isobutyric acid 81.3 1 16373326 (1)
    beta-alanine 73.2 7 15754324 (1), 17498647 (1), 19074966 (1)
    imino 72.9 5 16373326 (2), 15521011 (1), 16052352 (1)
    proline 61.8 8 16373326 (3), 16052352 (1), 18621125 (1), 16531028 (1) (see all 5)
    gaba 42.5 2 18621125 (1), 16531028 (1)
    oxalate 40.2 2 15956810 (1), 15203903 (1)
    serine 37.5 3 15754324 (1), 12893527 (1), 16531028 (1)
    hydroxyproline 37 3 16373326 (1), 16531028 (1)
    alanine 36.4 2 12748860 (1), 16373326 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC36A1 / S36A1

    (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 SLC36A1 gene: 
    NM_078483.2  

    Unigene Cluster for SLC36A1:

    Solute carrier family 36 (proton/amino acid symporter), member 1
    Hs.269004  [show with all ESTs]
    Unigene Representative Sequence: BX537963
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000520111 ENST00000520701(uc003lub.1) ENST00000429484 ENST00000243389(uc003luc.3)
    ENST00000517945 ENST00000521925(uc010jhw.1) ENST00000521351 ENST00000519829
    ENST00000517628 ENST00000522185
    miRNA
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    Additional mRNA sequence: 

    AF010235.1 AF516142.1 AK000729.1 AK025102.1 AK057340.1 AK309323.1 AL833703.1 AY162213.1 
    AY227111.1 AY227112.1 AY227113.1 BC136437.1 BC136438.1 BX537963.1 GU296670.1 

    6 DOTS entries:

    DT.413162  DT.100751411  DT.75178465  DT.75157993  DT.120870047  DT.75164093 

    24/96 AceView cDNA sequences (see all 96):

    Z38372 AY227113 BU735105 AW471248 AY162213 BF197975 CA432126 AY227112 
    BM991766 AI932971 AI140615 AY227111 AL833703 AK025102 BG562543 BQ772770 
    W68120 NM_078483 AI417980 BU617471 BM769252 AI948878 AA290994 AI825366 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SLC36A1 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:              -     -     -     -     -     -     -                                                           -                                       
    SP2:                                                                                                                                                      
    SP3:                    -     -     -     -     -     -                                                                                                   
    SP4:                                                                                                                                                      
    SP5:              -     -     -     -     -     -                                                                                                         


    ECgene alternative splicing isoforms for SLC36A1

    (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

    SLC36A1 expression in normal human tissues (normalized intensities)      SLC36A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC36A1 Expression
    About this image


    SLC36A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Colon (Gastrointestinal Tract)
             distal colon   
     
     Intestine (Gastrointestinal Tract)
             small intestine   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See SLC36A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC36A1

    SOURCE GeneReport for Unigene cluster: Hs.269004
        SABiosciences Custom PCR Arrays for SLC36A1
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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 animals and fungi.

    Orthologs for SLC36A1 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc36a11 , 5 solute carrier family 36 (proton/amino acid symporter), more1, 5 85.68(n)1
    86.11(a)1
      11 (32.33 cM)5
    2153351  NM_153139.41  NP_694779.31 
     552043505 
    chicken
    (Gallus gallus)
    Aves SLC36A11 solute carrier family 36 (proton/amino acid symporter), more 75.31(n)
    75.16(a)
      770250  XM_001233581.2  XP_001233582.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC36A16
    Uncharacterized protein
    73(a)
    1 → many
    2(137841084-137944473)
    zebrafish
    (Danio rerio)
    Actinopterygii slc36a11 solute carrier family 36 (proton/amino acid symporter), more 64.19(n)
    64.49(a)
      559308  XM_682640.4  XP_687732.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG133841 CG13384 54.37(n)
    46.82(a)
      34160  NM_164812.4  NP_723383.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y43F4B.71 Protein Y43F4B.7 45.84(n)
    35.8(a)
      259544  NM_067342.7  NP_499743.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AVT4(YNL101W)4
    AVT31
    Vacuolar transporter, exports large neutral amino acids more4
    Avt3p1
    43.07(n)1
    32.18(a)1
      14(434999-437140)4
    8537101  NP_012776.11  8556224 
     NP_014298.14 


    ENSEMBL Gene Tree for SLC36A1 (if available)
    TreeFam Gene Tree for SLC36A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC36A1 gene
    SLC36A42  SLC36A32  SLC36A22  
    3 SIMAP similar genes for SLC36A1 using alignment to 8 protein entries:     S36A1_HUMAN (see all proteins):
    SLC36A2    SLC36A3    SLC36A4

    SLC36A1 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

    10/1201 SNPs in SLC36A1 are shown (see all 1201)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1381993751,2
    Cuntested1150844107(+) GGCATC/TGTGGC 2 I syn11Minor allele frequency- T:0.00NA 4552
    rs100677171,2
    C,F,A,H--150825197(+) agtcaG/Aatagt 1 -- us2k115Minor allele frequency- A:0.11NS EA NA WA 1762
    rs1502741881,2
    --150825237(+) TTATTA/GGTCTG 1 -- us2k10--------
    rs39059081,2
    C,F,H--150825329(+) caataT/Cgttgg 1 -- us2k123Minor allele frequency- C:0.23NS EA NA CSA WA 2217
    rs1848090851,2
    --150825432(+) TTCTTC/TTTTTT 1 -- us2k10--------
    rs1876198141,2
    --150825441(+) TTCTTA/TGACTA 1 -- us2k10--------
    rs1921033001,2
    --150825462(+) CGTCAA/TTTTAA 1 -- us2k10--------
    rs788356851,2
    C--150825554(+) CTCTTC/TCTTTT 1 -- us2k10--------
    rs727983121,2
    C,F--150825668(+) TTATTG/TCTATA 1 -- us2k12Minor allele frequency- T:0.29NA EA 240
    rs1850499481,2
    --150825676(+) ATAAAA/CTTCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC36A1 (150816607 - 150871942 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC36A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv823322CNV Gain20364138
    nsv883033CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606561    OMIM disorders: --

    8 diseases for SLC36A1:    About MalaCards
    iminoglycinuria    allan-herndon-dudley syndrome    hartnup disease    aminoaciduria
    adenoma    gastric cancer    pancreatitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for SLC36A1:
    Allan-Herndon-Dudley syndrome     Hartnup disease

    SLC36A1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SLC36A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iminoglycinuria 92 2 16373326 (1)
    adenoma 37 3 16002564 (1), 11842009 (1), 19940027 (1)


    Export disorders for SLC36A1 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 SLC36A1 gene, integrated from 9 sources (see all 57):
    (articles sorted by number of sources associating them with SLC36A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Organization and expression of the SLC36 cluster of amino acid transporter genes. (PubMed id 15058382)1, 2, 7 Bermingham J.R. Jr. and Pennington J. (2004)
    2. A cluster of proton/amino acid transporter genes in the human and mouse genomes. (PubMed id 12809675)1, 2, 9 Boll M.... Daniel H. (2003)
    3. Structure, function and immunolocalization of a proton-coupled amino acid transporter (hPAT1) in the human intestinal cell line Caco-2. (PubMed id 12527723)1, 2, 9 Chen Z....Ganapathy V. (2003)
    4. Identification of a disulfide bridge essential for transport function of the human proton-coupled amino acid transporter hPAT1. (PubMed id 19549785)1, 2, 9 Dorn M....Bosse-Doenecke E. (2009)
    5. Vigabatrin transport across the human intestinal epithelial (Caco-2) brush-border membrane is via the H+ -coupled amino-acid transporter hPAT1. (PubMed id 16331283)1, 7, 9 Abbot E.L....Thwaites D.T. (2006)
    6. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters. (PubMed id 11959859)1, 3 Boll M....Daniel H. (2002)
    9. Identification and characterization of a lysosomal transporter for small neutral amino acids. (PubMed id 11390972)1, 3 Sagne C....Giros B. (2001)
    10. Isolation and function of the amino acid transporter PAT1 (slc36a1) from rabbit and discrimination between transport via PAT1 and system IMINO in renal brush-border membrane vesicles. (PubMed id 16373326)7, 9 Miyauchi S....Thwaites D.T. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 206358 HGNC: 18761 AceView: SLC36A1 Ensembl:ENSG00000123643 euGenes: HUgn206358
    ECgene: SLC36A1 Kegg: 206358 H-InvDB: SLC36A1

    (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 SLC36A1 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 SLC36A1 gene:
    Search GeneIP for patents involving SLC36A1

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



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