DOLK
Dolichol kinase
Also known as: DK1, DOLK_HUMAN, KIAA1094, TMEM15
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UPQ8
- Gene
- DOLK
- Ensembl
- ENSG00000175283
- Chromosome
- 9
- Canonical length
- 538 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
538 residues, UniProt reviewed canonical sequence.
>Q9UPQ8|DOLK
1 MTRECPSPAP GPGAPLSGSV LAEAAVVFAV VLSIHATVWD RYSWCAVALA VQAFYVQYKW
61 DRLLQQGSAV FQFRMSANSG LLPASMVMPL LGLVMKERCQ TAGNPFFERF GIVVAATGMA
121 VALFSSVLAL GITRPVPTNT CVILGLAGGV IIYIMKHSLS VGEVIEVLEV LLIFVYLNMI
181 LLYLLPRCFT PGEALLVLGG ISFVLNQLIK RSLTLVESQG DPVDFFLLVV VVGMVLMGIF
241 FSTLFVFMDS GTWASSIFFH LMTCVLSLGV VLPWLHRLIR RNPLLWLLQF LFQTDTRIYL
301 LAYWSLLATL ACLVVLYQNA KRSSSESKKH QAPTIARKYF HLIVVATYIP GIIFDRPLLY
361 VAATVCLAVF IFLEYVRYFR IKPLGHTLRS FLSLFLDERD SGPLILTHIY LLLGMSLPIW
421 LIPRPCTQKG SLGGARALVP YAGVLAVGVG DTVASIFGST MGEIRWPGTK KTFEGTMTSI
481 FAQIISVALI LIFDSGVDLN YSYAWILGSI STVSLLEAYT TQIDNLLLPL YLLILLMALocalizationUniProt · AlphaFold · HPA
Whether an antibody against DOLK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 15
- Mean surface accessibility (rSASA)
- 0.24
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 16 nTPM
- testis: 14 nTPM
- pancreas: 14 nTPM
- adrenal gland: 14 nTPM
- choroid plexus: 13 nTPM
- epididymis: 13 nTPM
Single-cell type
- late primary spermatocytes: 33 nCPM
- cytotrophoblasts: 31 nCPM
- early primary spermatocytes: 23 nCPM
- syncytiotrophoblasts: 22 nCPM
- decidual stromal cells: 21 nCPM
- migrating cytotrophoblasts: 21 nCPM
Immune cell
- non-classical monocyte: 21 nTPM
- T-reg: 17 nTPM
- myeloid DC: 17 nTPM
- classical monocyte: 15 nTPM
- intermediate monocyte: 15 nTPM
- naive CD8 T-cell: 13 nTPM
Brain region
- choroid plexus: 16 nTPM
- midbrain: 14 nTPM
- thalamus: 14 nTPM
- hypothalamus: 13 nTPM
- pons: 13 nTPM
- medulla oblongata: 12 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DOLK.
Disease | AllUniProt
Conditions DOLK is implicated in, by any mechanism.
- Congenital disorder of glycosylation 1M (CDG1M) MIM:610768
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 598 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- DK1-congenital disorder of glycosylation
- Cardiovascular phenotype
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.9
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.98
- DepMap mean gene effect
- -0.45
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- dolichol kinase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Polyprenol kinase family
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DOLK in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DOLK as an antibody target. Whether an autoantibody or antibody against DOLK could matter depends on whether native DOLK is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DOLK is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DOLK as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...