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Aliases for DOLK Gene

Aliases for DOLK Gene

  • Dolichol Kinase 2 3
  • Transmembrane Protein 15 2 3 4
  • TMEM15 3 4 6
  • Dolichol Kinase 1 2 3
  • KIAA1094 4 6
  • CDG1M 3 6
  • SEC59 3 6
  • DK1 3 6
  • SEC59 Homolog 3
  • EC 2.7.1.108 4
  • DK 3

External Ids for DOLK Gene

Previous HGNC Symbols for DOLK Gene

  • TMEM15

Previous GeneCards Identifiers for DOLK Gene

  • GC09M130749
  • GC09M131707
  • GC09M101315

Summaries for DOLK Gene

Entrez Gene Summary for DOLK Gene

  • 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]

GeneCards Summary for DOLK Gene

DOLK (Dolichol Kinase) is a Protein Coding gene. Diseases associated with DOLK include congenital disorder of glycosylation, type im and dk1-cdg. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include dolichol kinase activity.

UniProtKB/Swiss-Prot for DOLK Gene

  • 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.

Gene Wiki entry for DOLK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOLK Gene

Genomics for DOLK Gene

Regulatory Elements for DOLK Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DOLK Gene

Start:
128,945,530 bp from pter
End:
128,947,733 bp from pter
Size:
2,204 bases
Orientation:
Minus strand

Genomic View for DOLK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DOLK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOLK Gene

Proteins for DOLK Gene

  • Protein details for DOLK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPQ8-DOLK_HUMAN
    Recommended name:
    Dolichol kinase
    Protein Accession:
    Q9UPQ8
    Secondary Accessions:
    • Q5SRE6

    Protein attributes for DOLK Gene

    Size:
    538 amino acids
    Molecular mass:
    59268 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells
    SequenceCaution:
    • Sequence=BAA83046.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DOLK Gene

Proteomics data for DOLK Gene at MOPED

Post-translational modifications for DOLK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DOLK Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DOLK Gene

Domains for DOLK Gene

Protein Domains for DOLK Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DOLK Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPQ8

UniProtKB/Swiss-Prot:

DOLK_HUMAN :
  • Q9UPQ8
Family:
  • Belongs to the polyprenol kinase family.
genes like me logo Genes that share domains with DOLK: view

No data available for Gene Families for DOLK Gene

Function for DOLK Gene

Molecular function for DOLK Gene

UniProtKB/Swiss-Prot CatalyticActivity: CTP + dolichol = CDP + dolichyl phosphate
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for DOLK Gene

Gene Ontology (GO) - Molecular Function for DOLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004168 dolichol kinase activity IDA 12213788
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with DOLK: view

Animal Model Products

miRNA for DOLK Gene

miRTarBase miRNAs that target DOLK

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DOLK

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for DOLK Gene

Localization for DOLK Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOLK Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DOLK Gene COMPARTMENTS Subcellular localization image for DOLK gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for DOLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0030176 integral component of endoplasmic reticulum membrane IDA 16923818
genes like me logo Genes that share ontologies with DOLK: view

Pathways for DOLK Gene

genes like me logo Genes that share pathways with DOLK: view

Gene Ontology (GO) - Biological Process for DOLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006489 dolichyl diphosphate biosynthetic process TAS --
GO:0016310 phosphorylation IEA --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043048 dolichyl monophosphate biosynthetic process IDA 12213788
genes like me logo Genes that share ontologies with DOLK: view

Compounds for DOLK Gene

(2) HMDB Compounds for DOLK Gene

Compound Synonyms Cas Number PubMed IDs
CDP
  • CDP
63-38-7
Dolichol-20
  • Dolichol (C100)
2067-66-5
genes like me logo Genes that share compounds with DOLK: view

Transcripts for DOLK Gene

mRNA/cDNA for DOLK Gene

(431) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DOLK Gene

Dolichol kinase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DOLK

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOLK Gene

No ASD Table

Relevant External Links for DOLK Gene

GeneLoc Exon Structure for
DOLK
ECgene alternative splicing isoforms for
DOLK

Expression for DOLK Gene

mRNA expression in normal human tissues for DOLK Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DOLK Gene

SOURCE GeneReport for Unigene cluster for DOLK Gene Hs.531563

mRNA Expression by UniProt/SwissProt for DOLK Gene

Q9UPQ8-DOLK_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with DOLK: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DOLK Gene

Orthologs for DOLK Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DOLK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOLK 35
  • 99.69 (n)
  • 100 (a)
DOLK 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DOLK 35
  • 89.71 (n)
  • 95.24 (a)
DOLK 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DOLK 35
  • 89.67 (n)
  • 94.46 (a)
mouse
(Mus musculus)
Mammalia Dolk 35
  • 88.55 (n)
  • 95.01 (a)
Dolk 16
Dolk 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOLK 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dolk 35
  • 89.04 (n)
  • 95.22 (a)
chicken
(Gallus gallus)
Aves DOLK 35
  • 71.01 (n)
  • 80.04 (a)
DOLK 36
  • 78 (a)
OneToMany
DOLK 36
  • 81 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia DOLK 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dolk 35
  • 68.16 (n)
  • 71.63 (a)
zebrafish
(Danio rerio)
Actinopterygii dolk 35
  • 62.74 (n)
  • 65.45 (a)
dolk 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8311 36
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y56A3A.36 36
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC59 36
  • 24 (a)
OneToOne
SEC59 38
Species with no ortholog for DOLK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DOLK Gene

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

Paralogs for DOLK Gene

No data available for Paralogs for DOLK Gene

Variants for DOLK Gene

Sequence variations from dbSNP and Humsavar for DOLK Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs10988163 -- 128,945,054(+) accca(G/T)agact downstream-variant-500B
rs112403860 -- 128,945,499(+) AAAAT(-/A)AAAAA downstream-variant-500B
rs114254625 -- 128,945,508(+) AAAAA(A/T)ATATA downstream-variant-500B
rs141516958 -- 128,945,392(+) GGCTG(C/G)GACAG downstream-variant-500B
rs144378845 -- 128,945,046(+) TTAGT(C/T)TGACC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for DOLK Gene

Variant ID Type Subtype PubMed ID
nsv893902 CNV Gain 21882294
dgv8297n71 CNV Loss 21882294

Relevant External Links for DOLK Gene

HapMap Linkage Disequilibrium report
DOLK
Human Gene Mutation Database (HGMD)
DOLK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOLK Gene

Disorders for DOLK Gene

(1) OMIM Diseases for DOLK Gene (610746)

UniProtKB/Swiss-Prot

DOLK_HUMAN
  • Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768]: 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. CDG1M is a very severe disease with death occurring in early life. {ECO:0000269 PubMed:17273964}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DOLK

GeneTests
DOLK
GeneReviews
DOLK
genes like me logo Genes that share disorders with DOLK: view

Publications for DOLK Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4
  2. Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site. (PMID: 16923818) Shridas P. … Waechter C.J. (J. Biol. Chem. 2006) 2 3 4
  3. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. (PMID: 17273964) Kranz C. … Marquardt T. (Am. J. Hum. Genet. 2007) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for DOLK Gene

Sources for DOLK Gene

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