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SLC45A1 Gene

protein-coding   GIFtS: 44
GCID: GC01P008377

Solute Carrier Family 45, Member 1

(Previous name: deleted in neuroblastoma 5)
(Previous symbol: DNB5)
  See SLC45A1-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)
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Aliases
Solute Carrier Family 45, Member 11 2     Deleted In Neuroblastoma 51
DNB51 2 3 5     Proton-Associated Sugar Transporter A2
H+/Sugar Symporter1 2     DNb-53
Deleted In Neuroblastoma 5 Protein2 3     Solute Carrier Family 45 Member 13
PAST-A2 3     

External Ids:    HGNC: 179391   Entrez Gene: 506512   Ensembl: ENSG000001624267   OMIM: 6057635   UniProtKB: Q9Y2W33   

Export aliases for SLC45A1 gene to outside databases

Previous GC identifers: GC01P008313 GC01P008300 GC01P007532


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC45A1 Gene:
This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma,
although no causal relationship has since been demonstrated. The encoded protein belongs to the
glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake.
(provided by RefSeq, Mar 2014)

GeneCards Summary for SLC45A1 Gene:
SLC45A1 (solute carrier family 45, member 1) is a protein-coding gene. Diseases associated with SLC45A1 include neuroblastoma 5, and neuroblastoma. GO annotations related to this gene include symporter activity. An important paralog of this gene is SLC45A4.

UniProtKB/Swiss-Prot: S45A1_HUMAN, Q9Y2W3
Function: Mediates glucose uptake along the pH gradient (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC45A1 gene promoter:
         USF1   Sp1   AML1a   Pax-2   Pax-2a   GATA-2   NRF-2   USF-1   SEF-1 (1)   c-Myb   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SLC45A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC45A1


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

Entrez Gene cytogenetic band: 1p36.23   Ensembl cytogenetic band:  1p36.23   HGNC cytogenetic band: 1p36.23

SLC45A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC45A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P008377:  view genomic region     (about GC identifiers)

Start:
8,377,886 bp from pter      End:
8,404,227 bp from pter
Size:
26,342 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S45A1_HUMAN, Q9Y2W3 (See protein sequence)
Recommended Name: Proton-associated sugar transporter A  
Size: 748 amino acids; 80843 Da
Sequence caution: Sequence=AAD27583.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
Sequence=CAH70515.2; Type=Erroneous gene model prediction;
Secondary accessions: Q5VY46 Q5VY49

Explore the universe of human proteins at neXtProt for SLC45A1: NX_Q9Y2W3

Explore proteomics data for SLC45A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC45A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001073866.2  
    ENSEMBL proteins: 
     ENSP00000418096   ENSP00000366699   ENSP00000289877  

    SLC45A1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SLC45A1

     
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    Search eBioscience for ELISAs for SLC45A1 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: SLC45A1
    SLC45 orphans

    2 InterPro protein domains:
     IPR011701 MFS
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q9Y2W3

    ProtoNet protein and cluster: Q9Y2W3

    UniProtKB/Swiss-Prot: S45A1_HUMAN, Q9Y2W3
    Similarity: Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family


    Find genes that share domains with SLC45A1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S45A1_HUMAN, Q9Y2W3
    Function: Mediates glucose uptake along the pH gradient (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015293symporter activity IEA--
         
    Find genes that share ontologies with SLC45A1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC45A1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC45A1
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    miRNA
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    miRTarBase miRNAs that target SLC45A1:
    hsa-mir-335-5p (MIRT017767)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S45A1_HUMAN, Q9Y2W3: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SLC45A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC45A1
    Interactions:

        Search GeneGlobe Interaction Network for SLC45A1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC45A1 (ENSP000002898774) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAENSP000003260314STRING: ENSP00000326031
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008643carbohydrate transport IEA--
    GO:0055085transmembrane transport ----

    Find genes that share ontologies with SLC45A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC45A1 (S45A1)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC45A1 gene: 
    NM_001080397.2  

    Unigene Cluster for SLC45A1:

    Solute carrier family 45, member 1
    Hs.463036  [show with all ESTs]
    Unigene Representative Sequence: NM_001080397
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471889 ENST00000497660(uc001apc.3) ENST00000481265 ENST00000377479
    ENST00000289877(uc001apb.3)
    miRNA
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    Additional mRNA sequence: AF118274.1 

    2 DOTS entries:

    DT.40214842  DT.208435 

    Selected AceView cDNA sequences (see all 32):

    BM700954 AI567491 AI479747 CD513284 BF062396 BM693417 CD671127 AI341392 
    AW294950 AW071730 BG201041 BM543646 BU527858 AI198006 BQ187552 BX951580 
    AA974225 BM668694 BF364660 AI928533 AI627430 AW130353 BE703512 AI983304 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC45A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC45A1 Expression
    About this image

    SLC45A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC45A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.463036

    UniProtKB/Swiss-Prot: S45A1_HUMAN, Q9Y2W3
    Tissue specificity: Expressed in adult heart, brain, muscle and kidney, with very strong expression in brain. Also
    expressed in fetal brain, kidney and lung

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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC45A1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc45a11 , 5 solute carrier family 45, member 11, 5 85.45(n)1
    91.03(a)1
      4 (81.44 cM)5
    2427731  NM_173774.31  NP_776135.21 
     1506285725 
    chicken
    (Gallus gallus)
    Aves SLC45A11 solute carrier family 45, member 1 72.56(n)
    80.03(a)
      419363  XM_004947310.1  XP_004947367.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC45A16
    solute carrier family 45, member 1
    77(a)
    1 ↔ 1
    AAWZ02036089(2152-14080)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.155832 Transcribed sequence with weak similarity to protein more 74.92(n)    BX722558.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc45a16
    solute carrier family 45, member 1
    64(a)
    1 ↔ 1
    11(42125486-42150159) ENSDARG00000004302
    fruit fly
    (Drosophila melanogaster)
    Insecta CG410876
    --
    34(a)
    1 → many
    U(2089457-2090079)


    ENSEMBL Gene Tree for SLC45A1 (if available)
    TreeFam Gene Tree for SLC45A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC45A1 gene
    SLC45A42  SLC45A32  SLC45A22  
    1 SIMAP similar gene for SLC45A1 using alignment to 1 protein entry:     S45A1_HUMAN:
    SLC45A4

    Find genes that share paralogs with SLC45A1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC45A1 (see all 659)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617858301,2
    C--8382403(+) GGATGC/GATGGA 1 -- us2k10--------
    rs121286821,2
    C--8382404(+) gatgcA/Gtggat 1 -- us2k10--------
    rs562836001,2
    C--8382416(+) GATGGA/GTGGGT 1 -- us2k10--------
    rs1443818351,2
    C--8382431(+) GGGTG-/GATT  
            
    GATGG
    1 -- us2k10--------
    rs745698581,2
    C,F--8382464(+) GATGCA/GTGGAT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1154328531,2
    --8382470(+) TGGATA/GGTTGG 1 -- us2k10--------
    rs1166230081,2
    F--8382478(+) TGGGTG/AGGTAG 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1498343011,2
    C--8382593(+) AGACAA/GTCTCT 1 -- us2k10--------
    rs121321351,2
    C,F,A,H--8382607(+) TGGGTA/GGGGTG 1 -- us2k122Minor allele frequency- G:0.34NS EA NA WA CSA 2350
    rs1165212641,2
    C,F--8382674(+) AATTTA/CTTGTC 1 -- us2k11Minor allele frequency- C:0.04WA 118

    HapMap Linkage Disequilibrium report for SLC45A1 (8377886 - 8404227 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC45A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1250756CNV Insertion17803354
    nsv1743CNV Insertion18451855
    nsv516827CNV Loss19592680
    nsv871164CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 605763    OMIM disorders: --

    2 diseases for SLC45A1:    
    About MalaCards
    neuroblastoma 5    neuroblastoma


    Find genes that share disorders with SLC45A1           About GenesLikeMe


    Export disorders for SLC45A1 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)
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    PubMed articles for SLC45A1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SLC45A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP. (PubMed id 10729226)1, 2, 3 Amler L.C.... Hampton G.M. (Genomics 2000)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. (PubMed id 23453885)1 (Lancet 2013)
    4. Protein phosphatase 1I+ interacting proteins in the human brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (OMICS 2012)
    5. Past-A, a novel proton-associated sugar transporter, regulates glucose homeostasis in the brain. (PubMed id 12417639)9 Shimokawa N....Miura M. (J. Neurosci. 2002)
    6. Molecular responses to acidosis of central chemosensitive neurons in brain. (PubMed id 15763422)9 Shimokawa N....Koibuchi N. (Cell. Signal. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 50651 HGNC: 17939 AceView: DNB5 Ensembl:ENSG00000162426 euGenes: HUgn50651
    ECgene: SLC45A1 H-InvDB: SLC45A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC45A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC45A1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC45A1 gene:
    Search GeneIP for patents involving SLC45A1

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