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Q9UPQ8

- DOLK_HUMAN

UniProt

Q9UPQ8 - DOLK_HUMAN

Protein

Dolichol kinase

Gene

DOLK

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

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

    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. 1 interaction.
    IntActiQ9UPQ8. 1 interaction.
    MINTiMINT-4724096.
    STRINGi9606.ENSP00000361667.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UPQ8.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1313LumenalSequence AnalysisAdd
    BLAST
    Topological domaini35 – 7440CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini96 – 11116LumenalSequence AnalysisAdd
    BLAST
    Topological domaini133 – 1342CytoplasmicSequence Analysis
    Topological domaini156 – 1638LumenalSequence Analysis
    Topological domaini185 – 1884CytoplasmicSequence Analysis
    Topological domaini210 – 22415LumenalSequence AnalysisAdd
    BLAST
    Topological domaini246 – 2549CytoplasmicSequence Analysis
    Topological domaini276 – 29722LumenalSequence AnalysisAdd
    BLAST
    Topological domaini319 – 33719CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini355 – 3595LumenalSequence Analysis
    Topological domaini381 – 40121CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini423 – 43614LumenalSequence AnalysisAdd
    BLAST
    Topological domaini458 – 47215CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini494 – 4952LumenalSequence Analysis
    Topological domaini517 – 53822CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei14 – 3421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei75 – 9521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei112 – 13221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei135 – 15521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei164 – 18421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei189 – 20921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei225 – 24521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei255 – 27521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei298 – 31821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei338 – 35417HelicalSequence AnalysisAdd
    BLAST
    Transmembranei360 – 38021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei402 – 42221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei437 – 45721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei473 – 49321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei496 – 51621HelicalSequence AnalysisAdd
    BLAST

    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.
    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

    MTRECPSPAP GPGAPLSGSV LAEAAVVFAV VLSIHATVWD RYSWCAVALA    50
    VQAFYVQYKW DRLLQQGSAV FQFRMSANSG LLPASMVMPL LGLVMKERCQ 100
    TAGNPFFERF GIVVAATGMA VALFSSVLAL GITRPVPTNT CVILGLAGGV 150
    IIYIMKHSLS VGEVIEVLEV LLIFVYLNMI LLYLLPRCFT PGEALLVLGG 200
    ISFVLNQLIK RSLTLVESQG DPVDFFLLVV VVGMVLMGIF FSTLFVFMDS 250
    GTWASSIFFH LMTCVLSLGV VLPWLHRLIR RNPLLWLLQF LFQTDTRIYL 300
    LAYWSLLATL ACLVVLYQNA KRSSSESKKH QAPTIARKYF HLIVVATYIP 350
    GIIFDRPLLY VAATVCLAVF IFLEYVRYFR IKPLGHTLRS FLSLFLDERD 400
    SGPLILTHIY LLLGMSLPIW LIPRPCTQKG SLGGARALVP YAGVLAVGVG 450
    DTVASIFGST MGEIRWPGTK KTFEGTMTSI FAQIISVALI LIFDSGVDLN 500
    YSYAWILGSI STVSLLEAYT TQIDNLLLPL YLLILLMA 538
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116517. 1 interaction.
    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.
    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

    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 1, 2014
    This is version 109 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