DOLK (dolichol kinase)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22845
Gene name Gene Name - the full gene name approved by the HGNC.
Dolichol kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DOLK
Synonyms (NCBI Gene) Gene synonyms aliases
CDG1M, DK, DK1, SEC59, TMEM15
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
miRTarBase ID miRNA Experiments Reference
MIRT027582 hsa-miR-98-5p Microarray 19088304
MIRT048542 hsa-miR-100-5p CLASH 23622248
MIRT1979312 hsa-miR-3120-5p CLIP-seq
MIRT1979313 hsa-miR-3144-5p CLIP-seq
MIRT1979314 hsa-miR-3151 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0004168 Function Dolichol kinase activity IBA
GO:0004168 Function Dolichol kinase activity IDA 12213788, 16923818
GO:0004168 Function Dolichol kinase activity IEA
GO:0004168 Function Dolichol kinase activity IMP 22242004
GO:0004168 Function Dolichol kinase activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610746 23406 ENSG00000175283
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UPQ8
Protein name Dolichol kinase (EC 2.7.1.108) (Transmembrane protein 15)
Protein function Catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate (Dol-P) biosynthesis (PubMed:12213788, PubMed:16923818, PubMed:17273964, PubMed:22242004). Dol-P is a lipid carrier essential for the synthes
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10470851}.
Sequence 
MTRECPSPAPGPGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSWCAVALAVQAFYVQYKW
DRLLQQGSAVFQFRMSANSGLLPASMVMPLLGLVMKERCQTAGNPFFERFGIVVAATGMA
VALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLSVGEVIEVLEVLLIFVYLNMI
LLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVESQGDPVDFFLLVVVVGMVLMGIF
FSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLHRLIRRNPLLWLLQFLFQTDTRIYL
LAYWSLLATLACLVVLYQNAKRSSSESKKHQAPTIARKYFHLIVVATYIPGIIFDRPLLY
VAATVCLAVFIFLEYVRYFRIKPLGHTLRSFLSLFLDERDSGPLILTHIYLLLGMSLPIW
LIPRPCTQKGSLGGARALVPYAGVLAVGVGDTVASIFGSTMGEIRWPGTKKTFEGTMTSI
FAQIISVALILIFDSGVDLNYSYAWILGSISTVSLLEAYTTQIDNLLLPLYLLILLMA
Sequence length 538
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  N-Glycan biosynthesis
Metabolic pathways 		  Synthesis of Dolichyl-phosphate
Defective DOLK causes DOLK-CDG (CDG-1m)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
congenital disorder of glycosylation Congenital disorder of glycosylation N/A N/A ClinVar
Dilated Cardiomyopathy familial isolated dilated cardiomyopathy N/A N/A GenCC
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy 26 N/A N/A ClinVar
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathy Dilated Associate 22242004, 24144945
Congenital Disorder Of Glycosylation Type Im Inhibit 22242004, 24144945
Congenital Disorder Of Glycosylation Type In Associate 24144945
Congenital Disorders of Glycosylation Associate 22242004, 24144945
Dementia Multi Infarct Associate 24144945
Glycogen Storage Disease XIV Associate 24144945
Pathological Conditions Anatomical Associate 24144945
Protein Deficiency Associate 22242004