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SLC48A1 Gene

protein-coding   GIFtS: 44
GCID: GC12P048147

Solute Carrier Family 48 (Heme Transporter), Member 1

  Search for SLC48A1
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 48 (Heme Transporter), Member 11 2     HRG-12 3
HRG12 3 5     hHRG-12 3
Heme-Responsive Gene 1 Protein Homolog2 3     Heme Transporter HRG12
Solute Carrier Family 48 Member 12 3     

External Ids:    HGNC: 260351   Entrez Gene: 556522   Ensembl: ENSG000002115847   OMIM: 6121875   UniProtKB: Q6P1K13   

Export aliases for SLC48A1 gene to outside databases

Previous GC identifers: GC12P046454 GC12P048165 GC12P045198


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC48A1 Gene:
SLC48A1 (solute carrier family 48 (heme transporter), member 1) is a protein-coding gene. GO annotations related to this gene include heme transporter activity.

UniProtKB/Swiss-Prot: HRG1_HUMAN, Q6P1K1
Function: Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal
compartment




(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:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC48A1 gene promoter:
         Bach1   LHX3b/Lhx3b   FOXF2   FosB   Tal-1beta   E47   YY1   LHX3a/Lhx3a   ATF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SLC48A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC48A1


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

Entrez Gene cytogenetic band: 12q13.11   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q13.11

SLC48A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC48A1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P048147:  view genomic region     (about GC identifiers)

Start:
48,147,699 bp from pter      End:
48,176,536 bp from pter
Size:
28,838 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HRG1_HUMAN, Q6P1K1 (See protein sequence)
Recommended Name: Heme transporter HRG1  
Size: 146 amino acids; 16419 Da
Sequence caution: Sequence=AAH26344.2; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAA91205.1;
Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=EAW57951.1; Type=Erroneous gene model prediction;
Secondary accessions: Q9BUB3 Q9NX17
Alternative splicing: 2 isoforms:  Q6P1K1-1   Q6P1K1-2   

Explore the universe of human proteins at neXtProt for SLC48A1: NX_Q6P1K1

Explore proteomics data for SLC48A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC48A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060312.2  
    ENSEMBL proteins: 
     ENSP00000450234   ENSP00000446739   ENSP00000446686   ENSP00000410134   ENSP00000415998  
     ENSP00000449036  

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    Cloud-Clone Corp. CLIAs for SLC48A1


    (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: Heme transporter
    SLC48 haem transporter

    1 InterPro protein domain:
     IPR026218 HRG

    Graphical View of Domain Structure for InterPro Entry Q6P1K1

    ProtoNet protein and cluster: Q6P1K1

    UniProtKB/Swiss-Prot: HRG1_HUMAN, Q6P1K1
    Similarity: Belongs to the HRG family


    SLC48A1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HRG1_HUMAN, Q6P1K1
    Function: Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal
    compartment

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015232heme transporter activity IEA--
         
    SLC48A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Slc48a1):
     normal 

    SLC48A1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC48A1
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    miRNA
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    miRTarBase miRNAs that target SLC48A1:
    hsa-mir-215-5p (MIRT024829), hsa-mir-423-5p (MIRT038132), hsa-mir-877-3p (MIRT036961), hsa-mir-192-5p (MIRT026764)

    Block miRNA regulation of human, mouse, rat SLC48A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC48A1 (see all 44):
    hsa-miR-4307 hsa-miR-106a hsa-miR-488 hsa-miR-374a* hsa-miR-124 hsa-miR-629 hsa-miR-93 hsa-miR-4330
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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
    HRG1_HUMAN, Q6P1K1: Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane
    protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    vacuole5
    plasma membrane3
    cytosol1
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IEA--
    GO:0010008endosome membrane IEA--
    GO:0016021integral component of membrane IEA--

    SLC48A1 for ontologies           About GeneDecksing


    (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 SLC48A1
    Interactions:

        Search GeneGlobe Interaction Network for SLC48A1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SLC48A1 (Q6P1K13 ENSP000004159984) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGHG1P018573, ENSP000003749904I2D: score=1 STRING: ENSP00000374990
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (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 SLC48A1 (HRG1)

    1 HMDB Compound for SLC48A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC48A1 gene: 
    NM_017842.2  

    Unigene Cluster for SLC48A1:

    Solute carrier family 48 (heme transporter), member 1
    Hs.438867  [show with all ESTs]
    Unigene Representative Sequence: NM_017842
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548498 ENST00000552003 ENST00000547002 ENST00000549243 ENST00000442892(uc001rqc.3)
    ENST00000442218(uc001rqd.3) ENST00000551301 ENST00000461620 ENST00000476104

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC48A1 (see all 44):
    hsa-miR-4307 hsa-miR-106a hsa-miR-488 hsa-miR-374a* hsa-miR-124 hsa-miR-629 hsa-miR-93 hsa-miR-4330
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC48A1
      QuantiFast Probe-based Assays in human, mouse, rat SLC48A1

    Additional mRNA sequence: 

    AK000496.1 AK025856.1 AK294075.1 BC002759.2 BC011823.2 BC026344.1 BC065033.1 

    17 DOTS entries:

    DT.113943  DT.91693077  DT.99944701  DT.121171817  DT.448891  DT.101942  DT.121171820  DT.101968383 
    DT.121171796  DT.100667606  DT.95214830  DT.100694392  DT.101963950  DT.121171906  DT.95246836  DT.100786380 
    DT.92046968 

    Selected AceView cDNA sequences (see all 233):

    BX387906 AI399636 BC011823 BU625226 BU737434 BF512115 BU675157 CA444321 
    AI365373 AW261833 AA585107 BM992255 BC002759 BM799601 BX366087 CR618506 
    AW139764 BE395531 AW449302 AA931421 BE379398 AI500379 BU193023 AI970917 

    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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    SLC48A1 expression in normal human tissues (normalized intensities)      SLC48A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCTCCAGC
    SLC48A1 Expression
    About this image


    SLC48A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    SLC48A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC48A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.438867

    UniProtKB/Swiss-Prot: HRG1_HUMAN, Q6P1K1
    Tissue specificity: Highly expressed in the brain, kidney, heart and skeletal muscle. Moderately expressed in the
    liver, lung, placenta and small intestine

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC48A1

    (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 chordates.

    Orthologs for SLC48A1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc48a11 , 5 solute carrier family 48 (heme transporter), member more1, 5 90.18(n)1
    92.47(a)1
      15 (53.78 cM)5
    677391  NM_026353.41  NP_080629.11 
     977843555 
    chicken
    (Gallus gallus)
    Aves SLC48A11 solute carrier family 48 (heme transporter), member more 73.56(n)
    73.1(a)
      426887  NM_001031403.1  NP_001026574.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC48A16
    solute carrier family 48 (heme transporter), membe...
    67(a)
    1 ↔ 1
    GL343252.1(1384430-1407142)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.197462 Xenopus laevis transcribed sequence with weak similarity more 76.59(n)    BQ387759.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc48a1b1 solute carrier family 48 (heme transporter), member more 67.64(n)
    67.88(a)
      792763  NM_200006.1  NP_956300.1 


    ENSEMBL Gene Tree for SLC48A1 (if available)
    TreeFam Gene Tree for SLC48A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 SLC48A1 (see all 201)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1436865721,2
    --48164970(+) AATGTA/GCTTAA 1 -- us2k10--------
    rs790909981,2
    C,F--48165107(+) TTAAGG/AGGTCA 1 -- us2k12Minor allele frequency- A:0.18NA 122
    rs796381791,2
    C,F--48165151(+) GAACAA/CAACTG 1 -- us2k11Minor allele frequency- C:0.16EA 120
    rs1480900031,2
    --48165154(+) CAAAAC/TTGGCA 1 -- us2k10--------
    rs1418621671,2
    --48165236(+) TCCACA/GTCCTC 1 -- us2k10--------
    rs1460596551,2
    --48165254(+) AACCTA/GTGAAT 1 -- us2k10--------
    rs1145718961,2
    C,F--48165433(+) AAGGCG/AGCCGG 1 -- us2k11Minor allele frequency- A:0.12WA 118
    rs1932703741,2
    --48165525(+) AGCCTA/GGCCAA 1 -- us2k10--------
    rs1116507541,2
    C--48165558(+) TAAAAA/GTACAA 1 -- us2k10--------
    rs1824605951,2
    --48165580(+) GTGTGC/GTGGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC48A1 (48147699 - 48176536 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SLC48A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv94n21CNV Loss19592680
    nsv899059CNV Loss21882294
    nsv470289CNV Gain18288195

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612187    OMIM disorders: --


    SLC48A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC48A1
    Human Genome Epidemiology (HuGE) Navigator: SLC48A1 (3 documents)

    Export disorders for SLC48A1 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 SLC48A1 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with SLC48A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins. (PubMed id 18418376)1, 2, 3 Rajagopal A.... Hamza I. (Nature 2008)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis. (PubMed id 23395172)1 White C....Hamza I. (Cell Metab. 2013)
    4. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (PubMed id 23263486)1 KAPttgen A....Gieger C. (Nat. Genet. 2013)
    5. Topologically conserved residues direct heme transport in HRG-1-related proteins. (PubMed id 22174408)1 Yuan X....Hamza I. (J. Biol. Chem. 2012)
    6. The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle. (PubMed id 21555518)1 Warnatz H.J....Yaspo M.L. (J. Biol. Chem. 2011)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. Heme-binding protein HRG-1 is induced by insulin-like growth factor I and associates with the vacuolar H+-ATPase to control endosomal pH and receptor trafficking. (PubMed id 19875448)1 O'Callaghan K.M....O'Connor R. (J. Biol. Chem. 2010)
    9. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55652 HGNC: 26035 AceView: FLJ20489 Ensembl:ENSG00000211584 euGenes: HUgn55652
    ECgene: SLC48A1 H-InvDB: SLC48A1

    (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 SLC48A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC48A1 gene:
    Search GeneIP for patents involving SLC48A1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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