Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

DOLK Gene

protein-coding   GIFtS: 53
GCID: GC09M131707

dolichol kinase

(Previous name: transmembrane protein 15 )
(Previous symbol: TMEM15)
 Explore 3 diseases affiliated with
DOLK via our new
 Human Malady Compendium 
Biological research products
for DOLK
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dolichol Kinase1 2     SEC592 5
TMEM151 2 3 5     DK2
Transmembrane Protein 151 2 3     Dolichol Kinase 12
DK11 2 5     SEC59 Homolog2
KIAA10941 3 5     EC 2.7.1.1083
CDG1M2 5     

External Ids:    HGNC: 234061   Entrez Gene: 228452   Ensembl: ENSG000001752837   OMIM: 6107465   UniProtKB: Q9UPQ83   

Export aliases for DOLK gene to outside databases

Previous GC identifers: GC09M130749 GC09M101315


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DOLK:
The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the
synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked
glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum.
Mutations in this gene are associated with dolichol kinase deficiency.(provided by RefSeq, Apr 2010)

UniProtKB/Swiss-Prot: DOLK_HUMAN, Q9UPQ8
Function: Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and
O-linked oligosaccharides and for that of GPI anchors (By similarity)

Gene Wiki entry for DOLK (Dolichol kinase)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DOLK gene promoter:
         AML1a   POU2F1   POU2F1a   FOXD3   FOXJ2   HNF-3beta   C/EBPalpha   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDOLK promoter sequence
   Search SABiosciences Chromatin IP Primers for DOLK

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


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.13

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M131707:  view genomic region     (about GC identifiers)

Start:
131,707,809 bp from pter      End:
131,710,012 bp from pter
Size:
2,204 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DOLK_HUMAN, Q9UPQ8 (See protein sequence)
Recommended Name: Dolichol kinase  
Size: 538 amino acids; 59268 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Miscellaneous: Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the
restrictive temperature in yeast sec59 mutant cells
Sequence caution: Sequence=BAA83046.2; Type=Erroneous initiation;
Secondary accessions: Q5SRE6

Explore the universe of human proteins at neXtProt for DOLK: NX_Q9UPQ8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UPQ8

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

    REFSEQ proteins: NP_055723.1  
    ENSEMBL proteins: 
     ENSP00000361667  
    Reactome Protein details: Q9UPQ8
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: DOLK
    OriGene Custom Protein Services for DOLK 
    GenScript Custom Purified and Recombinant Proteins Services for DOLK
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DOLK

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0030176integral to endoplasmic reticulum membrane IDA16923818


    DOLK for ontologies           About GeneDecksing



    DOLK Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DOLK 
    GenScript Custom Superior Antibodies Services for DOLK
    Abcam antibodies for DOLK 
    Uscn Antibodies for DOLK
    Search ThermoFisher Antibodies for DOLK

    Assay Products for DOLK: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DOLK
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DOLK


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

    DOLK for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026566 DOLK

    Graphical View of Domain Structure for InterPro Entry Q9UPQ8

    ProtoNet protein and cluster: Q9UPQ8

    1 Blocks protein family: IPB000374 Phosphatidate cytidylyltransferase

    UniProtKB/Swiss-Prot: DOLK_HUMAN, Q9UPQ8
    Similarity: Belongs to the polyprenol kinase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DOLK_HUMAN, Q9UPQ8
    Function: Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and
    O-linked oligosaccharides and for that of GPI anchors (By similarity)
    Catalytic activity: CTP + dolichol = CDP + dolichyl phosphate

    Enzyme Number (IUBMB): EC 2.7.1.1081

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: DOLK
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOLK
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DOLK
    SwitchGear 3'UTR luciferase reporter plasmidDOLK 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOLK (see all 7)
    OriGene shRNA RFP: DOLK
    OriGene siRNA: DOLK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOLK

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DOLK

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOLK (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOLK (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DOLK (NM_014908)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DOLK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOLK 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DOLK
    Search LifeMap BioReagents cell lines for DOLK

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOLK

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004168dolichol kinase activity IDA12213788


    DOLK for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Dolktm1Lex for DOLK
         1 MGI phenotypic allele for Dolk (no phenotypes)

    DOLK for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation1.00
    Post-translational protein modification0.44
    N-Glycan biosynthesis0.52
    Metabolism of proteins0.15
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein1.00
    Synthesis of substrates in N-glycan biosythesis0.53
    3dolichol and dolichyl phosphate biosynthesis
    dolichol and dolichyl phosphate biosynthesis1.00
    4Synthesis of Dolichyl-phosphate
    Synthesis of Dolichyl-phosphate1.00
    5Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for DOLK 
        dolichol and dolichyl phosphate biosynthesis

    5/6        Reactome Pathways for DOLK (see all 6)
        Synthesis of substrates in N-glycan biosythesis
    Asparagine N-linked glycosylation
    Metabolism of proteins
    Post-translational protein modification
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    2         Kegg Pathways  (Kegg details for DOLK):
        N-Glycan biosynthesis
    Metabolic pathways


    DOLK for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for DOLK (Q9UPQ83 ENSP000003616674) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREB3O438893I2D: score=1 
    ALG5ENSP000002398914STRING: ENSP00000239891
    DOLPP1ENSP000003616254STRING: ENSP00000361625
    DPAGT1ENSP000003461424STRING: ENSP00000346142
    DPM1ENSP000003606444STRING: ENSP00000360644
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0006489dolichyl diphosphate biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043048dolichyl monophosphate biosynthetic process IDA12213788
    GO:0043687post-translational protein modification TAS--


    DOLK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DOLK

    2 HMDB Compounds for DOLK    About this table
    CompoundSynonyms CAS #PubMed Ids
    CDPCDP (see all 3)63-38-7--
    Dolichol-20Dolichol (C100) (see all 5)2067-66-5--
    Search CenterWatch for drugs/clinical trials and news about DOLK 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DOLK gene: 
    NM_014908.3  

    Unigene Cluster for DOLK:

    Dolichol kinase
    Hs.531563  [show with all ESTs]
    Unigene Representative Sequence: NM_014908
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000372586(uc004bwr.3)

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: DOLK
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOLK
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DOLK
    SwitchGear 3'UTR luciferase reporter plasmidDOLK 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOLK (see all 7)
    OriGene shRNA RFP: DOLK
    OriGene siRNA: DOLK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOLK
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOLK (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOLK (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DOLK (NM_014908)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DOLK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOLK 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOLK
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DOLK
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOLK
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOLK

    Additional cDNA sequence: 

    AB029017.1 AK225402.1 AK300180.1 AY358759.1 BC035556.1 

    5 DOTS entries:

    DT.40214549  DT.100777144  DT.100777140  DT.100677596  DT.95173009 

    24/431 AceView cDNA sequences (see all 431):

    Z41514 AL523184 AW072128 BQ921840 BQ943880 BE887545 BG035436 D79991 
    BQ052588 BQ064804 BM695810 BG392063 BM671848 BU187325 BQ055344 BX325410 
    BQ071308 BG391475 BQ683960 CA396162 BE260478 BM918033 BQ057053 BC040352 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

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

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

    SOURCE GeneReport for Unigene cluster: Hs.531563

    UniProtKB/Swiss-Prot: DOLK_HUMAN, Q9UPQ8
    Tissue specificity: Ubiquitous

        SABiosciences Custom PCR Arrays for DOLK
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOLK
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DOLK
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOLK
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOLK
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOLK

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DOLK gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dolk1 , 5 dolichol kinase1, 5 88.7(n)1
    95.32(a)1
      2 (21.49 cM)5
    2276971  NM_177648.31  NP_808316.11 
     302842315 
    chicken
    (Gallus gallus)
    Aves DOLK1 dolichol kinase 70.25(n)
    78.5(a)
      417199  XM_415482.2  XP_415482.1 
    lizard
    (Anolis carolinensis)
    Reptilia DOLK6
    --
    73(a)
    1 ↔ 1
    AAWZ02037988(3846-5468)
    zebrafish
    (Danio rerio)
    Actinopterygii dolk1 dolichol kinase 62.99(n)
    65.96(a)
      799960  NM_001110484.1  NP_001103954.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG83111 CG8311 44.14(n)
    34.17(a)
      36856  NM_137295.2  NP_611139.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y56A3A.361 Protein Y56A3A.36 44.55(n)
    36.1(a)
      3565503  NM_001027754.1  NP_001022925.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G450401 dolichol kinase 43.08(n)
    33.47(a)
      823639  NM_114373.3  NP_190090.2 
    rice
    (Oryza sativa)
    Liliopsida Os02g01465001 hypothetical protein 46.69(n)
    42.41(a)
      4328285  NM_001052412.1  NP_001045877.1 


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

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/98 NCBI SNPs in DOLK are shown (see all 98    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs109881631,2
    C,A,H--101315052(+) ACCCAG/TAGACT 1 -- ds50015Minor allele frequency- T:0.00NS EA NA 420
    rs787585921,2
    C,--101316218(+) GGCGGC/GTACAT 2 P A mis10--------
    rs283655231,2
    C,F,H--101316940(+) GGGCCA/CCTGCC 2 G V mis18Minor allele frequency- C:0.07NS EA NA 972
    rs1135277321,2
    --101317844(+) GCGACA/GGTGGC 1 -- us2k12Minor allele frequency- G:0.21CSA WA 120
    rs578342701,2
    C,--101317886(+) GAGACG/AGGAGG 1 -- us2k12Minor allele frequency- A:0.05WA 120
    rs1137967891,2
    --101318060(+) CCGCGC/TTTCCT 1 -- us2k12Minor allele frequency- T:0.10CSA WA 120
    rs743530841,2
    C,F,--101318125(+) ACCCCC/ACACCC 1 -- us2k11Minor allele frequency- A:0.22WA 118
    rs736723081,2
    C,--101318553(+) TCAAGC/TTGAAG 1 -- us2k12Minor allele frequency- T:0.15WA 120
    rs1123258761,2
    C,--101318670(+) ATCCCC/GGTCTC 1 -- us2k10--------
    rs123776701,2
    H--101318888(+) cctggC/Gtaatt 1 -- us2k11Minor allele frequency- G:0.00NS 120

    HapMap Linkage Disequilibrium report for DOLK (131707809 - 131710012 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DOLK: --
    Human Gene Mutation Database (HGMD): DOLK

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DOLK
    DNA2.0 Custom Variant and Variant Library Synthesis for DOLK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DOLK for disorders           About GeneDecksing

    OMIM gene information: 610746   
    OMIM disorders: 610768  
    UniProtKB/Swiss-Prot: DOLK_HUMAN, Q9UPQ8
  • Defects in DOLK are the cause of congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]; also known
  • as dolichol kinase deficiency. CDGs are a family of severe inherited diseases caused by a defect in glycoprotein
    biosynthesis. They are characterized by under-glycosylated serum glycoproteins. These multisystem disorders present
    with a wide variety of clinical features, such as disorders of 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. CDG1M is a very severe disorder with death occurring in early infancy

    3 diseases for DOLK:    About MalaCards
    congenital disorder of glycosylation    hypotonia    malaria

    GeneTests: DOLK
    Congenital Disorders of Glycosylation


    Export disorders for DOLK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DOLK gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with DOLK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site. (PubMed id 16923818)1, 2, 3 Shridas P. and Waechter C.J. (2006)
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
    3. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. (PubMed id 17273964)1, 2 Kranz C.... Marquardt T. (2007)
    4. 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. (2004)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    6. Expression and characterization of a human cDNA that complements the temperature-sensitive defect in dolichol kinase activity in the yeast sec59-1 mutant: the enzymatic phosphorylation of dolichol and diacylglycerol are catalyzed by separate CTP-mediated kinase activities in Saccharomyces cerevisiae. (PubMed id 12213788)1, 2 Fernandez F.... Waechter C.J. (2002)
    7. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R....Ohara O. (1999)
    8. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. (PubMed id 22242004)1 Lefeber D.J....Wevers R.A. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 22845 HGNC: 23406 AceView: NUP188 Ensembl:ENSG00000175283 euGenes: HUgn22845
    ECgene: DOLK Kegg: 22845 H-InvDB: DOLK

    (According to HUGE)
    About This Section
    HUGE: KIAA1094

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DOLK Pharmacogenomics, SNPs, Pathways

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

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



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

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for DOLK  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOLK   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOLK  
     OriGene Protein Over-expression Lysate for DOLK   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for DOLK   OriGene 3'-UTR Clone for DOLK  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOLK   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOLK  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DOLK   OriGene Custom Protein Services for DOLK  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DOLK
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DOLK
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOLK
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOLK
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOLK
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOLK
     GenScript Custom Purified and Recombinant Proteins Services for DOLK GenScript cDNA clones with any tag delivered in your preferred vector for DOLK
     GenScript Custom Assay Services for DOLK GenScript Custom Superior Antibodies Services for DOLK
     GenScript Custom overexpressing Cell Line Services for DOLK CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in DOLK promoter
     Search Chromatin IP Primers for DOLK
     RT2 qPCR Primer Assay in human, mouse, rat DOLK
     Search GNC Networks for DOLK
     SABiosciences Custom PCR Arrays for DOLK
     Search Tocris compounds for DOLK
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Biologicals
     Novus Tissue Slides
     Antibodies for DOLK
     See all of Abcam's Antibodies, Kits and Proteins for DOLK
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     DOLK Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for DOLK
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOLK
     SwitchGear 3'UTR luciferase reporter plasmids for DOLK
     SwitchGear Promoter luciferase reporter plasmids for DOLK
     Search ThermoFisher Antibodies for DOLK
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOLK
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DOLK gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4