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RFT1 Gene

protein-coding   GIFtS: 59
GCID: GC03M053122

RFT1 Homolog (S. Cerevisiae)

(Previous names: RFT1, requiring fifty three 1 homolog (S. cerevisiae))
  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)
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Aliases
RFT1 Homolog (S. Cerevisiae)1 2     Protein RFT1 Homolog2
Congenital Disorder Of Glycosylation 1N1 2     Putative Endoplasmic Reticulum Multispan Transmembrane Protein2
CDG1N2 5     RFT1, Requiring Fifty Three 1 Homolog2
RFT1, Requiring Fifty Three 1 Homolog (S. Cerevisiae)1     

External Ids:    HGNC: 302201   Entrez Gene: 918692   Ensembl: ENSG000001639337   OMIM: 6119085   UniProtKB: Q96AA33   

Export aliases for RFT1 gene to outside databases

Previous GC identifers: GC03U990226 GC03M052377 GC03M052980 GC03M053082 GC03M053100


(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 RFT1 Gene:
This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the
cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of
proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.(provided by
RefSeq, Dec 2008)

GeneCards Summary for RFT1 Gene:
RFT1 (RFT1 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with RFT1 include congenital disorder of glycosylation, and congenital disorder of glycosylation, type it. GO annotations related to this gene include lipid transporter activity. An important paralog of this gene is ENSG00000272305.

UniProtKB/Swiss-Prot: RFT1_HUMAN, Q96AA3
Function: May be involved in N-linked oligosaccharide assembly. May participate in the translocation of
oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane

Gene Wiki entry for RFT1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RFT1 gene promoter:
         CREB   p53   AP-1   deltaCREB   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRFT1 promoter sequence
   Search Chromatin IP Primers for RFT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RFT1


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

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.1   HGNC cytogenetic band: 3p21.1

RFT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFT1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M053122:  view genomic region     (about GC identifiers)

Start:
53,122,499 bp from pter      End:
53,164,478 bp from pter
Size:
41,980 bases      Orientation:
minus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RFT1_HUMAN, Q96AA3 (See protein sequence)
Recommended Name: Protein RFT1 homolog  
Size: 541 amino acids; 60335 Da
Secondary accessions: Q96J03

Explore the universe of human proteins at neXtProt for RFT1: NX_Q96AA3

Explore proteomics data for RFT1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RFT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_443091.1  
    ENSEMBL proteins: 
     ENSP00000296292   ENSP00000378223   ENSP00000420325  
    Reactome Protein details: Q96AA3

    RFT1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007594 RFT1

    Graphical View of Domain Structure for InterPro Entry Q96AA3

    ProtoNet protein and cluster: Q96AA3

    UniProtKB/Swiss-Prot: RFT1_HUMAN, Q96AA3
    Similarity: Belongs to the RFT1 family


    RFT1 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: RFT1_HUMAN, Q96AA3
    Function: May be involved in N-linked oligosaccharide assembly. May participate in the translocation of
    oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005319lipid transporter activity IEA--
         
    RFT1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for RFT1:
     Decreased viability with TRAIL  Decreased viability with pacli  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RFT1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RFT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RFT1

    miRNA
    Products:
        
    miRTarBase miRNAs that target RFT1:
    hsa-mir-30a-5p (MIRT028445), hsa-mir-133a-3p (MIRT021700), hsa-mir-16-5p (MIRT001422), hsa-mir-330-5p (MIRT038251), hsa-mir-124-3p (MIRT022119), hsa-mir-1 (MIRT001338)

    Block miRNA regulation of human, mouse, rat RFT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RFT1 (see all 20):
    hsa-miR-193a-3p hsa-miR-301a hsa-miR-4260 hsa-miR-28-5p hsa-miR-1827 hsa-miR-130b hsa-miR-193b hsa-miR-140-3p
    SwitchGear 3'UTR luciferase reporter plasmidRFT1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat RFT1

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFT1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFT1


    (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
    RFT1_HUMAN, Q96AA3: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    endoplasmic reticulum1

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

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

    RFT1 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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    SuperPaths for RFT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    N-Glycan biosynthesis0.49
    Metabolism of proteins0.30
    Post-translational protein modification0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for RFT1
        Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    1 Kegg Pathway  (Kegg details for RFT1):
        N-Glycan biosynthesis


    RFT1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RFT1
    Interactions:

        Search GeneGlobe Interaction Network for RFT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for RFT1 (Q96AA33 ENSP000002962924) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMA6P609003, ENSP000002614794I2D: score=3 STRING: ENSP00000261479
    LTN1O948223, ENSP000003549774I2D: score=1 STRING: ENSP00000354977
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    POLR2AP249283, ENSP000003149494I2D: score=1 STRING: ENSP00000314949
    GTF2BQ004033I2D: score=5 
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    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0006869lipid transport ----
    GO:0008643carbohydrate transport IEA--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--

    RFT1 for ontologies           About GeneDecksing



    (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 RFT1

    1 HMDB Compound for RFT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Riboflavin(-)-Riboflavin (see all 30)83-88-5--



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RFT1 gene: 
    NM_052859.3  

    Unigene Cluster for RFT1:

    RFT1 homolog (S. cerevisiae)
    Hs.631910  [show with all ESTs]
    Unigene Representative Sequence: NM_052859
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296292(uc003dgj.3) ENST00000394738 ENST00000471158 ENST00000467048

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RFT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RFT1 (see all 20):
    hsa-miR-193a-3p hsa-miR-301a hsa-miR-4260 hsa-miR-28-5p hsa-miR-1827 hsa-miR-130b hsa-miR-193b hsa-miR-140-3p
    SwitchGear 3'UTR luciferase reporter plasmidRFT1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RFT1
    Predesigned siRNA for gene silencing in human, mouse, rat RFT1
    Clone
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    OriGene clones in human, mouse for RFT1 (see all 7)
    OriGene ORF clones in mouse, rat for RFT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RFT1 (NM_052859)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFT1
    Primer
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    OriGene qPCR primer pairs and template standards for RFT1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RFT1
      QuantiTect SYBR Green Assays in human, mouse, rat RFT1
      QuantiFast Probe-based Assays in human, mouse, rat RFT1

    Additional mRNA sequence: 

    AJ318099.1 AK098811.1 AL713685.1 BC006846.1 BC043595.1 BC101247.2 BC101248.2 BC101249.2 
    BC101250.1 BC113058.1 BC113059.1 

    11 DOTS entries:

    DT.438626  DT.438922  DT.120926948  DT.100786247  DT.91739261  DT.100728536  DT.100786249  DT.120927009 
    DT.86855332  DT.95160273  DT.99982562 

    Selected AceView cDNA sequences (see all 137):

    BM826909 AA724082 AI284846 BG167718 BU528699 CR613853 CR605993 CR619807 
    CA430605 AI568579 AA701470 BC006846 BI868185 BQ924516 BU616987 AI680333 
    BF447518 BE880241 AI282106 BQ642245 BM999725 BX642406 AW968523 BF475369 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RFT1    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
    SP1:                                                                                      -                     
    SP2:                                -                                                                           
    SP3:                                                  -     -                                                   
    SP4:                                                                                                            
    SP5:                          -     -                                                                           


    ECgene alternative splicing isoforms for RFT1

    (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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    RFT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACACCTGT
    RFT1 Expression
    About this image

    RFT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RFT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631910
        Custom PCR Arrays for RFT1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFT1

    (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 eukaryotes.

    Orthologs for RFT1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rft11 , 5 RFT1 homolog (S. cerevisiae)1, 5 85.34(n)1
    87.43(a)1
      14 (18.90 cM)5
    3283701  NM_177815.31  NP_808483.21 
     306543605 
    chicken
    (Gallus gallus)
    Aves RFT11 RFT1 homolog (S. cerevisiae) 71.08(n)
    71.46(a)
      770487  NM_001142872.1  NP_001136344.1 
    lizard
    (Anolis carolinensis)
    Reptilia RFT16
    RFT1 homolog (S. cerevisiae)
    72(a)
    1 ↔ 1
    2(155568005-155596714)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rft11 RFT1 homolog 65.47(n)
    66.79(a)
      780289  NM_001079360.1  NP_001072828.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rft11 RFT1 homolog (S. cerevisiae) 65.24(n)
    63.82(a)
      559873  XM_683262.5  XP_688354.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH083883
    CG31491
    CG31491 37(a)3
    48.6(n)1
    41.04(a)1
      314891  NM_132018.21  NP_572246.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK180.31 , 3 ZK180.31 29(a)3
    43.69(n)1
    30.87(a)1
      IV(4508818-4511498)3
    1772161  NM_001028439.31  NP_001023610.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RFT1(YBL020W)4
    RFT11
    Essential integral membrane protein that is required more4
    RFT11
    42.28(n)1
    30.05(a)1
      2(182401-184125)4
    8522611, 4  NP_009533.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G076301 AT5G07630 44.92(n)
    36.23(a)
      830656  NM_120845.5  NP_196380.5 
    rice
    (Oryza sativa)
    Liliopsida Os07g04861001 Os07g0486100 47.96(n)
    37.55(a)
      4343254  NM_001066196.1  NP_001059661.2 


    ENSEMBL Gene Tree for RFT1 (if available)
    TreeFam Gene Tree for RFT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RFT1 gene
    ENSG000002723052  

    RFT1 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), 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 RFT1 (see all 918)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0625734
    Congenital disorder of glycosylation 1N (CDG1N)4--see VAR_0625732 E K mis40--------
    VAR_0443344
    Congenital disorder of glycosylation 1N (CDG1N)4--see VAR_0443342 R C mis40--------
    VAR_0625724
    Congenital disorder of glycosylation 1N (CDG1N)4--see VAR_0625722 K E mis40--------
    rs1182039131,2
    Cpathogenic153090211(-) CCTTCC/TGCAGA 2 R C mis11Minor allele frequency- T:0.00NA 4552
    rs1405526471,2
    --53054451(+) AACTAC/GGTGAA 1 -- int10--------
    rs1500527411,2
    --53054503(+) GGGGCC/TGTCCT 1 -- int10--------
    rs729653861,2
    C,F--53054637(+) GTCCCG/ACAAAC 1 -- int13Minor allele frequency- A:0.17WA CSA 122
    rs1867032351,2
    --53054646(+) ACAACA/GGGAAA 1 -- int10--------
    rs1913152211,2
    --53054655(+) AATACA/TGCTTA 1 -- int10--------
    rs25817821,2
    C,F--53054669(+) GGGGAC/TGGGGA 1 -- int16Minor allele frequency- T:0.48NA WA EA 364

    HapMap Linkage Disequilibrium report for RFT1 (53122499 - 53164478 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RFT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834699CNV Loss17160897
    nsv460553CNV Loss19166990
    nsv822095CNV Gain20364138

    Human Gene Mutation Database (HGMD): RFT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RFT1
    DNA2.0 Custom Variant and Variant Library Synthesis for RFT1

    (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: 611908   
    OMIM disorders: 612015  
    UniProtKB/Swiss-Prot: RFT1_HUMAN, Q96AA3
  • Congenital disorder of glycosylation 1N (CDG1N) [MIM:612015]: A multisystem disorder caused by a defect
    in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of
    glycosylation result in a wide variety of clinical features, such as defects in the nervous system development,
    psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad
    spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation,
    and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 8 diseases for RFT1:    
    About MalaCards
    congenital disorder of glycosylation    congenital disorder of glycosylation, type it    smallpox    hypotonia
    bipolar disorder    multiple myeloma    malaria    myeloma


    RFT1 for disorders           About GeneDecksing

    GeneTests: RFT1
    GeneReviews: RFT1
    Genetic Association Database (GAD): RFT1
    Human Genome Epidemiology (HuGE) Navigator: RFT1 (1 document)

    Export disorders for RFT1 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 RFT1 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with RFT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Human RFT1 deficiency leads to a disorder of N-linked glycosylation. (PubMed id 18313027)1, 2 Haeuptle M.A.... Hennet T. (Am. J. Hum. Genet. 2008)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PubMed id 23563607)1 Berndt S.I....Ingelsson E. (Nat. Genet. 2013)
    5. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PubMed id 23974872)1 Ripke S....Sullivan P.F. (Nat. Genet. 2013)
    6. RFT1-CDG in adult siblings with novel mutations. (PubMed id 23111317)1 Ondruskova N....Honzik T. (Mol. Genet. Metab. 2012)
    7. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (Hum. Genet. 2012)
    8. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 (Nat. Genet. 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 91869 HGNC: 30220 AceView: RFT1 Ensembl:ENSG00000163933 euGenes: HUgn91869
    ECgene: RFT1 Kegg: 91869 H-InvDB: RFT1

    (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 RFT1 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 RFT1 gene:
    Search GeneIP for patents involving RFT1

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



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