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SLC35C1 Gene

protein-coding   GIFtS: 53
GCID: GC11P045826

Solute Carrier Family 35 (GDP-Fucose Transporter), Member...

(Previous names: solute carrier family 35, member C1)
  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
Solute Carrier Family 35 (GDP-Fucose Transporter), Member C11 2
FUCT12 3 5
Solute Carrier Family 35, Member C11 2
CDG2C2 5
GDP-Fucose Transporter 12
Solute Carrier Family 35 Member C13

External Ids:    HGNC: 201971   Entrez Gene: 553432   Ensembl: ENSG000001818307   OMIM: 6058815   UniProtKB: Q96A293   

Export aliases for SLC35C1 gene to outside databases

Previous GC identifers: GC00U913330 GC11P045791 GC11P045792 GC11P045783 GC11P045532


(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 SLC35C1 Gene:
This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in
congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Feb 2009)

GeneCards Summary for SLC35C1 Gene:
SLC35C1 (solute carrier family 35 (GDP-fucose transporter), member C1) is a protein-coding gene. Diseases associated with SLC35C1 include congenital disorder of glycosylation type 2c, and leukocyte adhesion deficiency.

UniProtKB/Swiss-Prot: FUCT1_HUMAN, Q96A29
Function: Involved in GDP-fucose import from the cytoplasm into the Golgi lumen

Gene Wiki entry for SLC35C1 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_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC35C1 gene promoter:
         c-Fos   CREB   AP-1   deltaCREB   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC35C1 promoter sequence
   Search Chromatin IP Primers for SLC35C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC35C1


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

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

SLC35C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC35C1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P045826:  view genomic region     (about GC identifiers)

Start:
45,825,623 bp from pter      End:
45,834,567 bp from pter
Size:
8,945 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: FUCT1_HUMAN, Q96A29 (See protein sequence)
Recommended Name: GDP-fucose transporter 1  
Size: 364 amino acids; 39809 Da
Sequence caution: Sequence=BAA92126.1; Type=Erroneous initiation;
Secondary accessions: B2RDB2 Q9BV76 Q9NUJ8
Alternative splicing: 2 isoforms:  Q96A29-1   Q96A29-2   

Explore the universe of human proteins at neXtProt for SLC35C1: NX_Q96A29

Explore proteomics data for SLC35C1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC35C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001138737.1  NP_001138738.1  NP_060859.4  

    ENSEMBL proteins: 
     ENSP00000412408   ENSP00000432145   ENSP00000313318   ENSP00000432669   ENSP00000399779  
    Reactome Protein details: Q96A29

    SLC35C1 Human Recombinant Protein Products:

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    Novus Biologicals SLC35C1 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SLC35C1 Antibody Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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: GDP-Fucose transporter
    SLC35 family of nucleotide sugar transporters

    2 InterPro protein domains:
     IPR004853 Tpt_PEP_trans_dom
     IPR000620 DMT

    Graphical View of Domain Structure for InterPro Entry Q96A29

    ProtoNet protein and cluster: Q96A29

    UniProtKB/Swiss-Prot: FUCT1_HUMAN, Q96A29
    Similarity: Belongs to the TPT transporter family. SLC35C subfamily


    SLC35C1 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: FUCT1_HUMAN, Q96A29
    Function: Involved in GDP-fucose import from the cytoplasm into the Golgi lumen

    Phenotypes:
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc35c1):

     behavior/neurological  cellular  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  reproductive system  respiratory system 

    SLC35C1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc35c1tm1Cknr for SLC35C1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC35C1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC35C1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC35C1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC35C1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SLC35C1:
    hsa-mir-26b-5p (MIRT029512), hsa-let-7a-5p (MIRT052607)

    Block miRNA regulation of human, mouse, rat SLC35C1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC35C1 (see all 18):
    hsa-miR-320a hsa-miR-125a-5p hsa-miR-331-3p hsa-miR-1271 hsa-miR-3154 hsa-miR-320e hsa-miR-125b hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidSLC35C1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC35C1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): SLC35C1 (NM_018389)
    Sino Biological Human cDNA Clone for SLC35C1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC35C1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC35C1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SLC35C1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC35C1


    (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
    FUCT1_HUMAN, Q96A29: Golgi apparatus membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane3
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    SLC35C1 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 SLC35C1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transmembrane transport of small molecules0.47
    2Transport of vitamins, nucleosides, and related molecules
    Transport of vitamins, nucleosides, and related molecules
    Transport of nucleotide sugars0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SLC35C1
        Transport of nucleotide sugars



    SLC35C1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC35C1
    Interactions:

        Search GeneGlobe Interaction Network for SLC35C1

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008643carbohydrate transport IEA--
    GO:0030259lipid glycosylation IEA--
    GO:0045746negative regulation of Notch signaling pathway IEA--
    GO:0055085transmembrane transport TAS--

    SLC35C1 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 SLC35C1 (FUCT1)



    (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 SLC35C1 gene (3 alternative transcripts): 
    NM_001145265.1  NM_001145266.1  NM_018389.4  

    Unigene Cluster for SLC35C1:

    Solute carrier family 35, member C1
    Hs.12211  [show with all ESTs]
    Unigene Representative Sequence: NM_018389
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000442528 ENST00000526817 ENST00000314134(uc001nbp.3) ENST00000530471
    ENST00000456334(uc001nbo.3 uc010rgm.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SLC35C1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC35C1 (see all 18):
    hsa-miR-320a hsa-miR-125a-5p hsa-miR-331-3p hsa-miR-1271 hsa-miR-3154 hsa-miR-320e hsa-miR-125b hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidSLC35C1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC35C1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SLC35C1 (NM_018389)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC35C1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC35C1
    Primer
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    OriGene qPCR primer pairs and template standards for SLC35C1
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC35C1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC35C1
      QuantiTect SYBR Green Assays in human, mouse, rat SLC35C1
      QuantiFast Probe-based Assays in human, mouse, rat SLC35C1

    Additional mRNA sequence: 

    AF323970.1 AF326199.1 AK000527.1 AK002182.1 AK027394.1 AK027747.1 AK074929.1 AK091245.1 
    AK225428.1 AK315473.1 BC001427.2 

    7 DOTS entries:

    DT.40132519  DT.100823434  DT.102824574  DT.86852944  DT.92425634  DT.92032971  DT.97834850 

    Selected AceView cDNA sequences (see all 164):

    AI246417 AA351081 BU737752 BI764766 AA404618 AF326199 AL545993 BP381612 
    CR607230 AK091245 CA488986 AF323970 AA594606 BQ440403 NM_018389 CF126208 
    BM977474 AW297574 BM827143 AI245457 BM712286 AU280041 Z40426 BC001427 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SLC35C1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b
    SP1:        -     -                                       
    SP2:        -     -                                       
    SP3:                                                      
    SP4:                    -     -     -     -               


    ECgene alternative splicing isoforms for SLC35C1

    (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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    SLC35C1 expression in normal human tissues (normalized intensities)      SLC35C1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCCAATCAG
    SLC35C1 Expression
    About this image


    SLC35C1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Striatum
    SLC35C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC35C1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.12211
        Custom PCR Arrays for SLC35C1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC35C1

    (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 SLC35C1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc35c11 , 5 solute carrier family 35, member C11, 5 85.4(n)1
    87.88(a)1
      2 (51.05 cM)5
    2283681  NM_211358.21  NP_997597.11 
     924527645 
    chicken
    (Gallus gallus)
    Aves SLC35C11 solute carrier family 35, member C1 77.41(n)
    77.41(a)
      423203  NM_001199651.1  NP_001186580.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC35C16
    solute carrier family 35 (GDP-fucose transporter),...
    75(a)
    1 ↔ 1
    1(47772583-47779561)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc35c11 solute carrier family 35, member C1 72.39(n)
    72.85(a)
      100492829  XM_004913374.1  XP_004913431.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc35c11 solute carrier family 35, member C1 67.68(n)
    70.82(a)
      494047  NM_001008590.1  NP_001008590.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gfr1 Gfr 57.25(n)
    50.93(a)
      40981  NM_141525.2  NP_649782.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nstp-101 nstp-10 54.3(n)
    60.38(a)
      179342  NM_073066.5  NP_505467.3 


    ENSEMBL Gene Tree for SLC35C1 (if available)
    TreeFam Gene Tree for SLC35C1 (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 SLC35C1 (see all 232)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289390871,2,,4
    CCongenital disorder of glycosylation 2C (CDG2C)4 pathogenic145754348(+) TGGGCC/TGCTCA 6 R C mis1 ese30--------
    rs289378861,2,,4
    CCongenital disorder of glycosylation 2C (CDG2C)4 pathogenic145759271(+) CCAGAC/GAGTGC 6 T R mis1 ese30--------
    rs797724791,2
    C,F--45750395(+) AAGACC/GTAAAA 2 -- us2k12Minor allele frequency- G:0.17CSA WA 120
    rs1156371541,2
    C,F--45750622(+) CAGAAT/CTTCAG 2 -- us2k11Minor allele frequency- C:0.02WA 118
    rs792610641,2
    C,F--45750643(+) AGAGAT/CTGGAG 2 -- us2k12Minor allele frequency- C:0.03NA 122
    rs1401086381,2
    --45750699(+) ACACAC/TGCAGC 2 -- us2k10--------
    rs750248931,2
    C,F--45750765(+) TATCTC/GTTCCC 2 -- us2k11Minor allele frequency- G:0.07WA 118
    rs1878031361,2
    --45750818(+) ATGTGC/GTAAGG 2 -- us2k10--------
    rs1437870731,2
    --45750911(+) CGGGCA/GTAAGA 2 -- us2k10--------
    rs1151982441,2
    C,F--45750999(+) ACTCTC/TCAGGT 2 -- us2k11Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for SLC35C1 (45825623 - 45834567 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC35C1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897314CNV Loss21882294
    nsv897315CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC35C1
    Locus Specific Mutation Databases (LSDB): SLC35C1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC35C1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC35C1

    (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: 605881   
    OMIM disorders: 266265  
    UniProtKB/Swiss-Prot: FUCT1_HUMAN, Q96A29
  • Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265]: 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. The clinical features of CDG2C include mental retardation, short stature,
    facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.
    Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for SLC35C1:    About MalaCards
    congenital disorder of glycosylation type 2c    leukocyte adhesion deficiency    congenital disorder of glycosylation    congenital disorder of glycosylation, type it
    hypotonia    short stature    mental retardation    hepatocellular carcinoma
    malaria    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for SLC35C1:
    Congenital disorder of glycosylation     Leukocyte adhesion deficiency

    SLC35C1 for disorders           About GeneDecksing

    GeneTests: SLC35C1
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    Export disorders for SLC35C1 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 SLC35C1 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with SLC35C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. (PubMed id 11326279)1, 2, 3 Luehn K.... Vestweber D. (Nat. Genet. 2001)
    2. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. (PubMed id 11326280)1, 2, 3 Luebke T....Koerner C. (Nat. Genet. 2001)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. (PubMed id 24144296)1 Cheng C.Y....Baird P.N. (Am. J. Hum. Genet. 2013)
    6. FX enzyme and GDP-L-Fuc transporter expression in colorectal cancer. (PubMed id 23730929)1 Villar-Portela S....FernA!ndez-Briera A. (Histopathology 2013)
    7. Identification of functional elements of the GDP-fucose transporter SLC35C1 using a novel Chinese hamster ovary mutant. (PubMed id 22492235)1 Zhang P....Song Z. (Glycobiology 2012)
    8. Hematologically important mutations: leukocyte adhesion deficiency (first update). (PubMed id 22134107)1 van de Vijver E....Roos D. (amp 2012)
    9. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (PLoS Genet. 2012)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)

    (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: 55343 HGNC: 20197 AceView: SLC35C1 Ensembl:ENSG00000181830 euGenes: HUgn55343
    ECgene: SLC35C1 H-InvDB: SLC35C1

    (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 SLC35C1 Pharmacogenomics, SNPs, Pathways
    SLC35C1basehttp://bioinf.uta.fi/SLC35C1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC35C1[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=SLC35C1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC35C1 gene:
    Search GeneIP for patents involving SLC35C1

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



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