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Q9UPQ8

- DOLK_HUMAN

UniProt

Q9UPQ8 - DOLK_HUMAN

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Protein

Dolichol kinase

Gene

DOLK

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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 activityi

CTP + dolichol = CDP + dolichyl phosphate.

GO - Molecular functioni

  1. dolichol kinase activity Source: UniProtKB

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
  3. dolichyl diphosphate biosynthetic process Source: Reactome
  4. dolichyl monophosphate biosynthetic process Source: UniProtKB
  5. post-translational protein modification Source: Reactome
  6. protein N-linked glycosylation via asparagine Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Enzyme and pathway databases

ReactomeiREACT_22230. Synthesis of Dolichyl-phosphate.

Names & Taxonomyi

Protein namesi
Recommended name:
Dolichol kinase (EC:2.7.1.108)
Alternative name(s):
Transmembrane protein 15
Gene namesi
Name:DOLK
Synonyms:KIAA1094, TMEM15
ORF Names:UNQ2422/PRO4980
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:23406. DOLK.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1313LumenalSequence AnalysisAdd
BLAST
Transmembranei14 – 3421HelicalSequence AnalysisAdd
BLAST
Topological domaini35 – 7440CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei75 – 9521HelicalSequence AnalysisAdd
BLAST
Topological domaini96 – 11116LumenalSequence AnalysisAdd
BLAST
Transmembranei112 – 13221HelicalSequence AnalysisAdd
BLAST
Topological domaini133 – 1342CytoplasmicSequence Analysis
Transmembranei135 – 15521HelicalSequence AnalysisAdd
BLAST
Topological domaini156 – 1638LumenalSequence Analysis
Transmembranei164 – 18421HelicalSequence AnalysisAdd
BLAST
Topological domaini185 – 1884CytoplasmicSequence Analysis
Transmembranei189 – 20921HelicalSequence AnalysisAdd
BLAST
Topological domaini210 – 22415LumenalSequence AnalysisAdd
BLAST
Transmembranei225 – 24521HelicalSequence AnalysisAdd
BLAST
Topological domaini246 – 2549CytoplasmicSequence Analysis
Transmembranei255 – 27521HelicalSequence AnalysisAdd
BLAST
Topological domaini276 – 29722LumenalSequence AnalysisAdd
BLAST
Transmembranei298 – 31821HelicalSequence AnalysisAdd
BLAST
Topological domaini319 – 33719CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei338 – 35417HelicalSequence AnalysisAdd
BLAST
Topological domaini355 – 3595LumenalSequence Analysis
Transmembranei360 – 38021HelicalSequence AnalysisAdd
BLAST
Topological domaini381 – 40121CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei402 – 42221HelicalSequence AnalysisAdd
BLAST
Topological domaini423 – 43614LumenalSequence AnalysisAdd
BLAST
Transmembranei437 – 45721HelicalSequence AnalysisAdd
BLAST
Topological domaini458 – 47215CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei473 – 49321HelicalSequence AnalysisAdd
BLAST
Topological domaini494 – 4952LumenalSequence Analysis
Transmembranei496 – 51621HelicalSequence AnalysisAdd
BLAST
Topological domaini517 – 53822CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of endoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti99 – 991C → S in CDG1M; 2% residual activity; fails to complement the temperature-sensitive phenotype of DK1-deficient yeast cells. 1 Publication
VAR_032851
Natural varianti441 – 4411Y → S in CDG1M; 4% residual activity; fails to complement the temperature-sensitive phenotype of DK1-deficient yeast cells. 1 Publication
VAR_032852

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi443 – 4431G → D: Abolishes kinase activity. 1 Publication
Mutagenesisi451 – 4511D → A: Reduces kinase activity. 1 Publication
Mutagenesisi470 – 4701K → A: Reduces kinase activity. Significant reduction in binding affinity for CTP; when associated with A-471. 1 Publication
Mutagenesisi471 – 4711K → A: Reduces kinase activity. Significant reduction in binding affinity for CTP. 1 Publication
Mutagenesisi472 – 4721T → A: Reduces kinase activity. Significant reduction in binding affinity for CTP. 1 Publication
Mutagenesisi474 – 4741E → A: No effect on kinase activity. 1 Publication
Mutagenesisi475 – 4751G → A: No effect on kinase activity. 1 Publication

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

MIMi610768. phenotype.
Orphaneti91131. DK1-CDG.
154. Familial isolated dilated cardiomyopathy.
PharmGKBiPA162384054.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 538538Dolichol kinasePRO_0000072595Add
BLAST

Proteomic databases

MaxQBiQ9UPQ8.
PaxDbiQ9UPQ8.
PRIDEiQ9UPQ8.

PTM databases

PhosphoSiteiQ9UPQ8.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiQ9UPQ8.
CleanExiHS_DOLK.
GenevestigatoriQ9UPQ8.

Organism-specific databases

HPAiHPA054813.

Interactioni

Protein-protein interaction databases

BioGridi116517. 4 interactions.
IntActiQ9UPQ8. 1 interaction.
MINTiMINT-4724096.
STRINGi9606.ENSP00000361667.

Structurei

3D structure databases

ProteinModelPortaliQ9UPQ8.
SMRiQ9UPQ8. Positions 440-493.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni459 – 47416CTP-bindingAdd
BLAST

Sequence similaritiesi

Belongs to the polyprenol kinase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0170.
GeneTreeiENSGT00390000004067.
HOGENOMiHOG000036052.
HOVERGENiHBG054655.
InParanoidiQ9UPQ8.
KOiK00902.
OMAiRKYFHFI.
OrthoDBiEOG7J9VPF.
PhylomeDBiQ9UPQ8.
TreeFamiTF323379.

Family and domain databases

InterProiIPR026566. DOLK.
[Graphical view]
PANTHERiPTHR13205:SF14. PTHR13205:SF14. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9UPQ8-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MTRECPSPAP GPGAPLSGSV LAEAAVVFAV VLSIHATVWD RYSWCAVALA
60 70 80 90 100
VQAFYVQYKW DRLLQQGSAV FQFRMSANSG LLPASMVMPL LGLVMKERCQ
110 120 130 140 150
TAGNPFFERF GIVVAATGMA VALFSSVLAL GITRPVPTNT CVILGLAGGV
160 170 180 190 200
IIYIMKHSLS VGEVIEVLEV LLIFVYLNMI LLYLLPRCFT PGEALLVLGG
210 220 230 240 250
ISFVLNQLIK RSLTLVESQG DPVDFFLLVV VVGMVLMGIF FSTLFVFMDS
260 270 280 290 300
GTWASSIFFH LMTCVLSLGV VLPWLHRLIR RNPLLWLLQF LFQTDTRIYL
310 320 330 340 350
LAYWSLLATL ACLVVLYQNA KRSSSESKKH QAPTIARKYF HLIVVATYIP
360 370 380 390 400
GIIFDRPLLY VAATVCLAVF IFLEYVRYFR IKPLGHTLRS FLSLFLDERD
410 420 430 440 450
SGPLILTHIY LLLGMSLPIW LIPRPCTQKG SLGGARALVP YAGVLAVGVG
460 470 480 490 500
DTVASIFGST MGEIRWPGTK KTFEGTMTSI FAQIISVALI LIFDSGVDLN
510 520 530
YSYAWILGSI STVSLLEAYT TQIDNLLLPL YLLILLMA
Length:538
Mass (Da):59,268
Last modified:May 1, 2000 - v1
Checksum:iEB7D1BABD45362AD
GO

Sequence cautioni

The sequence BAA83046.2 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti99 – 991C → S in CDG1M; 2% residual activity; fails to complement the temperature-sensitive phenotype of DK1-deficient yeast cells. 1 Publication
VAR_032851
Natural varianti224 – 2241D → V.
Corresponds to variant rs17485436 [ dbSNP | Ensembl ].
VAR_049709
Natural varianti441 – 4411Y → S in CDG1M; 4% residual activity; fails to complement the temperature-sensitive phenotype of DK1-deficient yeast cells. 1 Publication
VAR_032852

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB029017 mRNA. Translation: BAA83046.2. Different initiation.
AY358759 mRNA. Translation: AAQ89119.1.
AL672142 Genomic DNA. Translation: CAI10844.1.
BC035556 mRNA. Translation: AAH35556.1.
CCDSiCCDS6915.1.
RefSeqiNP_055723.1. NM_014908.3.
UniGeneiHs.531563.

Genome annotation databases

EnsembliENST00000372586; ENSP00000361667; ENSG00000175283.
GeneIDi22845.
KEGGihsa:22845.
UCSCiuc004bwr.3. human.

Polymorphism databases

DMDMi20140913.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB029017 mRNA. Translation: BAA83046.2 . Different initiation.
AY358759 mRNA. Translation: AAQ89119.1 .
AL672142 Genomic DNA. Translation: CAI10844.1 .
BC035556 mRNA. Translation: AAH35556.1 .
CCDSi CCDS6915.1.
RefSeqi NP_055723.1. NM_014908.3.
UniGenei Hs.531563.

3D structure databases

ProteinModelPortali Q9UPQ8.
SMRi Q9UPQ8. Positions 440-493.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116517. 4 interactions.
IntActi Q9UPQ8. 1 interaction.
MINTi MINT-4724096.
STRINGi 9606.ENSP00000361667.

PTM databases

PhosphoSitei Q9UPQ8.

Polymorphism databases

DMDMi 20140913.

Proteomic databases

MaxQBi Q9UPQ8.
PaxDbi Q9UPQ8.
PRIDEi Q9UPQ8.

Protocols and materials databases

DNASUi 22845.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372586 ; ENSP00000361667 ; ENSG00000175283 .
GeneIDi 22845.
KEGGi hsa:22845.
UCSCi uc004bwr.3. human.

Organism-specific databases

CTDi 22845.
GeneCardsi GC09M131707.
GeneReviewsi DOLK.
HGNCi HGNC:23406. DOLK.
HPAi HPA054813.
MIMi 610746. gene.
610768. phenotype.
neXtProti NX_Q9UPQ8.
Orphaneti 91131. DK1-CDG.
154. Familial isolated dilated cardiomyopathy.
PharmGKBi PA162384054.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0170.
GeneTreei ENSGT00390000004067.
HOGENOMi HOG000036052.
HOVERGENi HBG054655.
InParanoidi Q9UPQ8.
KOi K00902.
OMAi RKYFHFI.
OrthoDBi EOG7J9VPF.
PhylomeDBi Q9UPQ8.
TreeFami TF323379.

Enzyme and pathway databases

Reactomei REACT_22230. Synthesis of Dolichyl-phosphate.

Miscellaneous databases

GeneWikii Dolichol_kinase.
GenomeRNAii 22845.
NextBioi 43301.
PROi Q9UPQ8.
SOURCEi Search...

Gene expression databases

Bgeei Q9UPQ8.
CleanExi HS_DOLK.
Genevestigatori Q9UPQ8.

Family and domain databases

InterProi IPR026566. DOLK.
[Graphical view ]
PANTHERi PTHR13205:SF14. PTHR13205:SF14. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression and characterization of a human cDNA that complements the temperature-sensitive defect in dolichol kinase activity in the yeast sec59-1 mutant: the enzymatic phosphorylation of dolichol and diacylglycerol are catalyzed by separate CTP-mediated kinase activities in Saccharomyces cerevisiae."
    Fernandez F., Shridas P., Jiang S., Aebi M., Waechter C.J.
    Glycobiology 12:555-562(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  2. "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pancreas and Spleen.
  6. "Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site."
    Shridas P., Waechter C.J.
    J. Biol. Chem. 281:31696-31704(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TOPOLOGY, CTP-BINDING, MUTAGENESIS OF GLY-443; ASP-451; LYS-470; LYS-471; THR-472; GLU-474 AND GLY-475.
  7. "A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy."
    Kranz C., Jungeblut C., Denecke J., Erlekotte A., Sohlbach C., Debus V., Kehl H.G., Harms E., Reith A., Reichel S., Groebe H., Hammersen G., Schwarzer U., Marquardt T.
    Am. J. Hum. Genet. 80:433-440(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CDG1M SER-99 AND SER-441, CHARACTERIZATION OF VARIANTS CDG1M SER-99 AND SER-441.

Entry informationi

Entry nameiDOLK_HUMAN
AccessioniPrimary (citable) accession number: Q9UPQ8
Secondary accession number(s): Q5SRE6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: May 1, 2000
Last modified: October 29, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3