InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DOLK

Summary

InnateDB Protein

IDBP-88833.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DOLK

Protein Name

dolichol kinase

Synonyms

CDG1M; DK; DK1; SEC59; TMEM15;

Species

Homo sapiens

Ensembl Protein

ENSP00000361667

InnateDB Gene

IDBG-88831 (DOLK)

Protein Structure

UniProt Annotation

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. {ECO:0000250}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

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:0000269PubMed:17273964}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004168	dolichol kinase activity

Biological Process

GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0006489	dolichyl diphosphate biosynthetic process
GO:0016310	phosphorylation
GO:0018279	protein N-linked glycosylation via asparagine
GO:0043048	dolichyl monophosphate biosynthetic process
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process