Human Gene DOLK (ENST00000372586.4) from GENCODE V44
  Description: Homo sapiens dolichol kinase (DOLK), mRNA. (from RefSeq NM_014908)
RefSeq Summary (NM_014908): 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].
Gencode Transcript: ENST00000372586.4
Gencode Gene: ENSG00000175283.8
Transcript (Including UTRs)
   Position: hg38 chr9:128,945,530-128,947,603 Size: 2,074 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg38 chr9:128,945,687-128,947,303 Size: 1,617 Coding Exon Count: 1 

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RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:128,945,530-128,947,603)mRNA (may differ from genome)Protein (538 aa)
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-  Comments and Description Text from UniProtKB
  ID: DOLK_HUMAN
DESCRIPTION: RecName: Full=Dolichol kinase; EC=2.7.1.108; AltName: Full=Transmembrane protein 15;
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.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Ubiquitous.
DISEASE: 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.
MISCELLANEOUS: Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells.
SIMILARITY: Belongs to the polyprenol kinase family.
SEQUENCE CAUTION: Sequence=BAA83046.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DOLK
Diseases sorted by gene-association score: congenital disorder of glycosylation, type im* (1550), familial isolated dilated cardiomyopathy* (64), epileptic encephalopathy, early infantile, 36 (7), middle ear disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.45 RPKM in Testis
Total median expression: 294.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -140.30300-0.468 Picture PostScript Text
3' UTR -37.30157-0.238 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026566 - DOLK

ModBase Predicted Comparative 3D Structure on Q9UPQ8
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
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Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004168 dolichol kinase activity
GO:0005515 protein binding
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0006486 protein glycosylation
GO:0006489 dolichyl diphosphate biosynthetic process
GO:0016310 phosphorylation
GO:0043048 dolichyl monophosphate biosynthetic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  LF205629 - JP 2014500723-A/13132: Polycomb-Associated Non-Coding RNAs.
MA441206 - JP 2018138019-A/13132: Polycomb-Associated Non-Coding RNAs.
AY358759 - Homo sapiens clone DNA97003 TREC2422 (UNQ2422) mRNA, complete cds.
BC035556 - Homo sapiens dolichol kinase, mRNA (cDNA clone MGC:40301 IMAGE:5224439), complete cds.
AK225402 - Homo sapiens mRNA for transmembrane protein 15 variant, clone: HRC05904.
AB029017 - Homo sapiens KIAA1094 mRNA for KIAA1094 protein.
LF346648 - JP 2014500723-A/154151: Polycomb-Associated Non-Coding RNAs.
MA582225 - JP 2018138019-A/154151: Polycomb-Associated Non-Coding RNAs.
JD481809 - Sequence 462833 from Patent EP1572962.
JD356104 - Sequence 337128 from Patent EP1572962.
JD427945 - Sequence 408969 from Patent EP1572962.
AB384111 - Synthetic construct DNA, clone: pF1KSDA1094, Homo sapiens DOLK gene for transmembrane protein 15, complete cds, without stop codon, in Flexi system.
JF432695 - Synthetic construct Homo sapiens clone IMAGE:100073934 dolichol kinase (DOLK) gene, encodes complete protein.
KJ904675 - Synthetic construct Homo sapiens clone ccsbBroadEn_14069 DOLK-like gene, encodes complete protein.
KU178553 - Homo sapiens dolichol kinase isoform 1 (DOLK) mRNA, partial cds.
KU178554 - Homo sapiens dolichol kinase isoform 2 (DOLK) mRNA, partial cds, alternatively spliced.
AK300180 - Homo sapiens cDNA FLJ60149 complete cds, highly similar to Transmembrane protein 15.
JD398069 - Sequence 379093 from Patent EP1572962.
JD478134 - Sequence 459158 from Patent EP1572962.
JD407894 - Sequence 388918 from Patent EP1572962.
JD456384 - Sequence 437408 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00510 - N-Glycan biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6129 - dolichol and dolichyl phosphate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9UPQ8 (Reactome details) participates in the following event(s):

R-HSA-446195 DOLK phosphorylates DCHOL to DOLP
R-HSA-446199 Synthesis of Dolichyl-phosphate
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: DOLK_HUMAN, ENST00000372586.1, ENST00000372586.2, ENST00000372586.3, KIAA1094, NM_014908, Q5SRE6, Q9UPQ8, TMEM15, uc004bwr.1, uc004bwr.2, uc004bwr.3, uc004bwr.4, uc004bwr.5, UNQ2422/PRO4980
UCSC ID: ENST00000372586.4
RefSeq Accession: NM_014908
Protein: Q9UPQ8 (aka DOLK_HUMAN)
CCDS: CCDS6915.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DOLK:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.