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

SLC36A4 Gene

protein-coding   GIFtS: 43
GCID: GC11M092880

solute carrier family 36 (proton/amino acid symporter),...

  Search for SLC36A4
in our new
 Human Malady Compendium 
Biological research products
for SLC36A4
    

(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 41 2
PAT41 2 3
Proton/Amino Acid Transporter 42 3
Solute Carrier Family 36 Member 42 3
FLJ389321
Proton-Coupled Amino Acid Transporter 42

External Ids:    HGNC: 196601   Entrez Gene: 1201032   Ensembl: ENSG000001807737   OMIM: 6137605   UniProtKB: Q6YBV03   

Export aliases for SLC36A4 gene to outside databases

Previous GC identifers: GC11M093065 GC11M092569 GC11M092520 GC11M088965


(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 SLC36A4:
SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members
(e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains.
Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a
high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 (PubMed
21097500)).(supplied by OMIM, Feb 2011)

UniProtKB/Swiss-Prot: S36A4_HUMAN, Q6YBV0
Function: Functions as a sodium-independent electroneutral transporter for tryptophan, proline and alanine. Inhibited
by sarcosine




(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_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC36A4 gene promoter:
         HFH-3   Sox5   RP58   E4BP4   Tal-1beta   E47   FOXI1   Nkx6-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC36A4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC36A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC36A4


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

Entrez Gene cytogenetic band: 11q21   Ensembl cytogenetic band:  11q21   HGNC cytogenetic band: 11q21

SLC36A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC36A4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M092880:  view genomic region     (about GC identifiers)

Start:
92,877,341 bp from pter      End:
92,931,130 bp from pter
Size:
53,790 bases      Orientation:
minus strand

(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: S36A4_HUMAN, Q6YBV0 (See protein sequence)
Recommended Name: Proton-coupled amino acid transporter 4  
Size: 504 amino acids; 56157 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=CAC82496.1; Type=Frameshift; Positions=358, 361, 363, 366, 370, 373, 376, 387, 396, 458,
487;
Secondary accessions: Q86X30 Q8IVM5 Q8N8S6
Alternative splicing: 2 isoforms:  Q6YBV0-1   Q6YBV0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC36A4: NX_Q6YBV0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6YBV0

  • SLC36A4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689526.2  
    ENSEMBL proteins: 
     ENSP00000317382   ENSP00000436570   ENSP00000432061   ENSP00000434879  

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    Uscn Proteins for SLC36A4

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    SLC36A4 for ontologies           About GeneDecksing



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

    SLC36A4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR013057 AA_transpt_TM

    Graphical View of Domain Structure for InterPro Entry Q6YBV0

    ProtoNet protein and cluster: Q6YBV0

    UniProtKB/Swiss-Prot: S36A4_HUMAN, Q6YBV0
    Similarity: Belongs to the amino acid/polyamine transporter 2 family


    (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: S36A4_HUMAN, Q6YBV0
    Function: Functions as a sodium-independent electroneutral transporter for tryptophan, proline and alanine. Inhibited
    by sarcosine
    Biophysicochemical properties: Kinetic parameters: KM=3.1 uM for L-proline; KM=1.7 uM for L-tryptophan; pH dependence:
    Optimum pH is 7.4 (for proline transport);

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    hsa-miR-653
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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015293symporter activity IEA--


    SLC36A4 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC36A4:
     Increased number of cells in m 


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC36A4

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015808L-alanine transport IDA--
    GO:0015824proline transport IDA--
    GO:0015827tryptophan transport IDA--


    SLC36A4 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for SLC36A4
    Search CenterWatch for drugs/clinical trials and news about SLC36A4 / S36A4 

    (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 SLC36A4 gene: 
    NM_152313.2  

    Unigene Cluster for SLC36A4:

    Solute carrier family 36 (proton/amino acid symporter), member 4
    Hs.148766  [show with all ESTs]
    Unigene Representative Sequence: AY162216
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000326402(uc001pdm.3 uc001pdn.3) ENST00000527503 ENST00000529184
    ENST00000526735 ENST00000534116 ENST00000524875 ENST00000527743

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SLC36A4:
    hsa-miR-653
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AJ295983.1 AK096251.1 AY162216.1 BC047374.1 

    7 DOTS entries:

    DT.100748155  DT.95368669  DT.409655  DT.205616  DT.120708583  DT.120708591  DT.91797616 

    24/65 AceView cDNA sequences (see all 65):

    BU181741 F27252 F11232 NM_152313 F08895 BE219231 AA935756 BI019871 
    AV728696 CD678384 AY162216 AI393765 BG960467 BC047374 AI378686 BI333531 
    AI216499 AW468398 BX103120 BX645411 BG546562 BX392174 AL542358 AW003704 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SLC36A4    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11
    SP1:                    -                                                                 -         
    SP2:                    -                 -                                               -         
    SP3:                                                                                                
    SP4:                                                                                                


    ECgene alternative splicing isoforms for SLC36A4

    (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

    SLC36A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCAAGAAAA

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

    About this image
    See SLC36A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC36A4

    SOURCE GeneReport for Unigene cluster: Hs.148766
        SABiosciences Custom PCR Arrays for SLC36A4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC36A4

    (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 SLC36A4 gene from 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC36A41 solute carrier family 36 (proton/amino acid symporter), more 72.73(n)
    73.76(a)
      419007  XM_417200.3  XP_417200.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC36A46
    --
    72(a)
    1 ↔ 1
    3(196439463-196469065)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.324572 Xenopus laevis transcribed sequence with weak similarity more 72.89(n)    BJ617827.1 
    zebrafish
    (Danio rerio)
    Actinopterygii im:71529171 im:7152917 59.07(n)
    59.73(a)
      504109  XM_002664695.2  XP_002664741.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG63271 CG6327 48.48(n)
    39.39(a)
      39231  NM_168431.2  NP_729648.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T27A1.56
    Y43F4B.76
    (see all 6)
    --
    32(a)
    30(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    II(522594-525974)
    III(13307397-13313292)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AVT41 Avt4p 47.75(n)
    32.7(a)
      855622   NP_014298.1 


    ENSEMBL Gene Tree for SLC36A4 (if available)
    TreeFam Gene Tree for SLC36A4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC36A4 gene
    SLC36A12  SLC36A32  SLC36A22  
    3 SIMAP similar genes for SLC36A4 using alignment to 3 protein entries:     S36A4_HUMAN (see all proteins):
    SLC36A1    SLC36A2    SLC36A3

    SLC36A4 for paralogs           About GeneDecksing



    (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

    10/708 NCBI SNPs in SLC36A4 are shown (see all 708    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1880041661,2
    --92880411(+) TCCTCC/TAGAGT 1 -- int10--------
    rs798108361,2
    F,--92880568(+) AGGAAT/CGTGGT 1 -- int11Minor allele frequency- C:0.10NA 120
    rs1925693911,2
    --92880594(+) GAAAGG/TAAGGT 1 -- int10--------
    rs2019751361,2
    C--92880616(-) GGCTTG/TAGCTT 1 -- int10--------
    rs1508885761,2
    --92880670(+) CACCAC/GCAAGC 1 -- int10--------
    rs1393566891,2
    --92880745(+) GTAGGA/CTTCTT 1 -- int10--------
    rs1843148221,2
    --92880815(+) CAAAGG/TATTAA 1 -- int10--------
    rs1896443601,2
    --92880952(+) GCTGAC/GTGGTC 1 -- ut310--------
    rs10620501,2
    C,F,A,H,--92881044(-) TTTGAA/CAAGGG 1 -- ut31 ese319Minor allele frequency- C:0.20NS EA NA WA 2326
    rs1924134191,2
    --92881112(+) CTACCA/GTTAGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC36A4 (92877341 - 92931130 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SLC36A4
         3 CNVs: 2946 6955 10374

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    (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

    SLC36A4 for disorders           About MalaCards

    SLC36A4 for disorders           About GeneDecksing

    OMIM gene information: 613760    OMIM disorders: --


    Export disorders for SLC36A4 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 SLC36A4 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SLC36A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SLC36A4 (hPAT4) is a high affinity amino acid transporter when expressed in Xenopus laevis oocytes. (PubMed id 21097500)1, 2 Pillai S.M. and Meredith D. (2011)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Proton-assisted amino-acid transporters are conserved regulators of proliferation and amino-acid-dependent mTORC1 activation. (PubMed id 20498635)1 Heublein S....Goberdhan D.C. (2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    6. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 120103 HGNC: 19660 AceView: SLC36A4 Ensembl:ENSG00000180773 euGenes: HUgn120103
    ECgene: SLC36A4 H-InvDB: SLC36A4

    (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 SLC36A4 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 SLC36A4 gene:
    Search GeneIP for patents involving SLC36A4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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