DOLK
entrez
22845
canonical
uniprot
Q9UPQ8
canonical
ensembl
ENSG00000175283
resolver
ensp
ENSP00000361667
resolver
enst
ENST00000372586
resolver
genesymbol
DOLK
resolver
genesymbol_syn
KIAA1094
resolver
genesymbol_syn
TMEM15
resolver
hgnc
HGNC:23406
resolver
uniprot
A0A0S2Z597
resolver
uniprot
Q5SRE6
resolver
uniprot_entry
A0A0S2Z597_HUMAN
resolver
uniprot_entry
DOLK_HUMAN
resolver
uniprot_sec
Q5SRE6
resolver
amino_acid_sequence
MTRECPSPAPGPGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSWCAVALAVQAFYVQYKWDRLLQQGSAVFQFRMSANSGLLPASMVMPLLGLVMKERCQTAGNPFFERFGIVVAATGMAVALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLSVGEVIEVLEVLLIFVYLNMILLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVESQGDPVDFFLLVVVVGMVLMGIFFSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLHRLIRRNPLLWLLQFLFQTDTRIYLLAYWSLLATLACLVVLYQNAKRSSSESKKHQAPTIARKYFHLIVVATYIPGIIFDRPLLYVAATVCLAVFIFLEYVRYFRIKPLGHTLRSFLSLFLDERDSGPLILTHIYLLLGMSLPIWLIPRPCTQKGSLGGARALVPYAGVLAVGVGDTVASIFGSTMGEIRWPGTKKTFEGTMTSIFAQIISVALILIFDSGVDLNYSYAWILGSISTVSLLEAYTTQIDNLLLPLYLLILLMA
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768]: A form of congenital disorder of glycosylation, 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, ECO:0000269|PubMed:22242004, ECO:0000269|PubMed:23890587, ECO:0000269|PubMed:28816422}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.108
uniprot
proteins
function
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 synthesis of N-linked and O-linked oligosaccharides and for GPI anchors (PubMed:12213788). {ECO:0000269|PubMed:12213788, ECO:0000269|PubMed:16923818, ECO:0000269|PubMed:17273964, ECO:0000269|PubMed:22242004}.
uniprot
proteins
mass_dalton
59268
uniprot
proteins
mutagenesis
MUTAGEN 443; /note="G->D: Abolishes dolichol kinase activity."; /evidence="ECO:0000269|PubMed:16923818"; MUTAGEN 451; /note="D->A: Reduces dolichol kinase activity."; /evidence="ECO:0000269|PubMed:16923818"; MUTAGEN 470; /note="K->A: Reduces dolichol kinase activity. Significant reduction in binding affinity for CTP; when associated with A-471."; /evidence="ECO:0000269|PubMed:16923818"; MUTAGEN 471; /note="K->A: Reduces dolichol kinase activity. Significant reduction in binding affinity for CTP."; /evidence="ECO:0000269|PubMed:16923818"; MUTAGEN 472; /note="T->A: Reduces dolichol kinase activity. Significant reduction in binding affinity for CTP."; /evidence="ECO:0000269|PubMed:16923818"; MUTAGEN 474; /note="E->A: No effect on dolichol kinase activity."; /evidence="ECO:0000269|PubMed:16923818"; MUTAGEN 475; /note="G->A: No effect on dolichol kinase activity."; /evidence="ECO:0000269|PubMed:16923818
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:12213788}.
uniprot
proteins
protein_family
Polyprenol kinase family
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
12213788
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16923818
uniprot
proteins
pubmed
17273964
uniprot
proteins
pubmed
22242004
uniprot
proteins
pubmed
23890587
uniprot
proteins
pubmed
28816422
uniprot
proteins
sequence_length
538
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16923818}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 14..34; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 75..95; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 112..132; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 135..155; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 164..184; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 225..245; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 255..275; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 298..318; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 338..354; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 360..380; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 402..422; /note="Helical; Name=12"; /evidence="ECO:0000255"; TRANSMEM 437..457; /note="Helical; Name=13"; /evidence="ECO:0000255"; TRANSMEM 473..493; /note="Helical; Name=14"; /evidence="ECO:0000255"; TRANSMEM 496..516; /note="Helical; Name=15"; /evidence="ECO:0000255
uniprot
proteins