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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),...
 Explore 6 diseases affiliated with
SLC36A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC36A1    

Aliases
for SLC36A1 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 36 (Proton/Amino Acid Symporter), Member 11 2     LYAAT12 5
PAT11 2 3 5     LYAAT-11
TRAMD31 2     Dct12
Proton/Amino Acid Transporter 12 3     Lysosomal Amino Acid Transporter 12
Solute Carrier Family 36 Member 12 3     Proton-Coupled Amino Acid Transporter 12
HPAT11     

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


Summaries
for SLC36A1 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 SLC36A1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_029289.11  
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 plasmid: SLC36A1 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

Proteins
for SLC36A1 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7Z2H8

    • SLC36A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_510968.2  
    ENSEMBL proteins: 
     ENSP00000429796   ENSP00000428140   ENSP00000395640   ENSP00000243389   ENSP00000430305  
     ENSP00000427804   ENSP00000428471   ENSP00000428738   ENSP00000430181  
    Reactome Protein details: Q7Z2H8
    Human Recombinant Protein Products: 
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    Novus Biologicals SLC36A1 Lysate
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    Uscn Proteins for SLC36A1

    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 IEA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--


    SLC36A1 for ontologies           About GeneDecksing



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    Uscn Antibodies for SLC36A1
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    Assay Products for SLC36A1: 
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    Uscn ELISAs and CLIAs for SLC36A1

    Protein Domains /
    Families
    for SLC36A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC36A1 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for SLC36A1 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: 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)

    miRNA
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    hsa-miR-579 hsa-miR-142-5p hsa-miR-3607-3p hsa-miR-15a hsa-miR-106a hsa-miR-29a hsa-miR-765 hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmid: SLC36A1 3' UTR sequence
    Inhib. RNA
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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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
    GO:0015175neutral amino acid transmembrane transporter activity ----
    GO:0015180L-alanine transmembrane transporter activity IEA--
    GO:0015187glycine transmembrane transporter activity IEA--
    GO:0015193L-proline transmembrane transporter activity IEA--


    SLC36A1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for SLC36A1 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  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
    3Proton-coupled neutral amino acid transporters
    		Proton-coupled neutral amino acid transporters1.00
    4Protein digestion and absorption
    		Protein digestion and absorption1.00

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for SLC36A1 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

    SLC36A1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC36A1

    2 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

    10/13 Novoseek 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 

    Transcripts
    for SLC36A1 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 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)
    ENST00000521925(uc010jhw.1) ENST00000517945 ENST00000521351 ENST00000519829
    ENST00000517628 ENST00000522185

    miRNA
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    hsa-miR-579 hsa-miR-142-5p hsa-miR-3607-3p hsa-miR-15a hsa-miR-106a hsa-miR-29a hsa-miR-765 hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmid: SLC36A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC36A1 (see all 7)
    OriGene shRNA RFP: SLC36A1
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    Clone
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    Additional cDNA 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):

    W68120 CA432126 AY227112 BM991766 AY162213 AY227113 AW471248 AL833703 
    BF197975 AI932971 NM_078483 AY227111 Z38372 BQ772770 BG562543 AK025102 
    AI140615 BU617471 BU735105 AI417980 Z42107 BG258378 BX537963 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

    Expression
    for SLC36A1 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

    SLC36A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    SLC36A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
    Assay Products:     
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    Orthologs
    for SLC36A1 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 animals and fungi.

    Orthologs for SLC36A1 gene from 7/26 species (see all 26)    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 --
    		 --
    		 74(a)
    		 1 → many
    		 2(137877293-137928866)
    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
    for SLC36A1 gene

    (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



    Genomic Variants
    for SLC36A1 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

    10/1018 NCBI SNPs in SLC36A1 are shown (see all 1018)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1381993751,2
    		C,other150844107(+) 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 (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC36A1: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SLC36A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC36A1 for disorders           About GeneDecksing

    OMIM gene information: 606561    OMIM disorders: --

    6 diseases for SLC36A1:    About MalaCards
    allan-herndon-dudley syndrome    iminoglycinuria    aminoaciduria    adenoma
    pancreatitis    neuronitis

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

    2 Novoseek 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

    Publications
    for SLC36A1 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 SLC36A1 gene, integrated from 9 sources (see all 52):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters. (PubMed id 11959859)1, 3 Boll M....Daniel H. (2002)
    7. Identification and characterization of a lysosomal transporter for small neutral amino acids. (PubMed id 11390972)1, 3 Sagne C....Giros B. (2001)
    8. 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)
    9. Taurine uptake across the human intestinal brush-border membrane is via two transporters: H(+)-coupled PAT1 (SLC36A1) and Na(+)- and Cl(-)-dependent TauT (SLC6A6). (PubMed id 19074966)1, 9 Anderson C.M....Thwaites D.T. (2009)
    10. H+/amino acid transporter 1 (PAT1) is the imino acid carrier: An intestinal nutrient/drug transporter in human and rat. (PubMed id 15521011)1, 9 Anderson C.M....Thwaites D.T. (2004)

    External Searches for SLC36A1 gene

    (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)

    Genome Databases showing SLC36A1 gene

    (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

    Other Databases showing SLC36A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC36A1 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 SLC36A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC36A1 gene

    (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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