LOCUS       NM_014908               2074 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens dolichol kinase (DOLK), mRNA.
ACCESSION   NM_014908
VERSION     NM_014908.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2074)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2074)
  AUTHORS   Hall,B.D., Stevenson,R.E. and Jones,J.R.
  TITLE     Fatal hyperkeratosis syndrome in four siblings due to dolichol
            kinase deficiency
  JOURNAL   Am J Med Genet A 182 (6), 1421-1425 (2020)
   PUBMED   32250540
  REMARK    GeneRIF: Fatal hyperkeratosis syndrome in four siblings due to
            dolichol kinase deficiency.
REFERENCE   3  (bases 1 to 2074)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2074)
  AUTHORS   Rush,E.T., Baker,C.V. and Rizzo,W.B.
  TITLE     Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion
            of phenotype
  JOURNAL   Am J Med Genet A 173 (9), 2428-2434 (2017)
   PUBMED   28816422
  REMARK    GeneRIF: These patients represent an earlier and more severe form
            of DOLK-CDG (CDG-1m) with a striking presentation at birth that
            expands the known phenotypic spectrum.
REFERENCE   5  (bases 1 to 2074)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2074)
  AUTHORS   Shridas,P. and Waechter,C.J.
  TITLE     Human dolichol kinase, a polytopic endoplasmic reticulum membrane
            protein with a cytoplasmically oriented CTP-binding site
  JOURNAL   J Biol Chem 281 (42), 31696-31704 (2006)
   PUBMED   16923818
  REMARK    GeneRIF: dolichol kinase is a polytopic endoplasmic reticulum
            membrane protein with a cytoplasmically oriented CTP-binding site
REFERENCE   7  (bases 1 to 2074)
  AUTHORS   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.,
            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., 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., 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., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   8  (bases 1 to 2074)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (bases 1 to 2074)
  AUTHORS   Fernandez,F., Shridas,P., Jiang,S., Aebi,M. and Waechter,C.J.
  TITLE     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
  JOURNAL   Glycobiology 12 (9), 555-562 (2002)
   PUBMED   12213788
REFERENCE   10 (bases 1 to 2074)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF056649.1 and BC035556.1.
            
            On Aug 31, 2019 this sequence version replaced NM_014908.3.
            
            Summary: 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC035556.1, AY358759.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372586.4/ ENSP00000361667.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                BF056649.1         131-147
            18-2074             BC035556.1         1-2057
FEATURES             Location/Qualifiers
     source          1..2074
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..2074
                     /gene="DOLK"
                     /gene_synonym="CDG1M; DK; DK1; SEC59; TMEM15"
                     /note="dolichol kinase"
                     /db_xref="GeneID:22845"
                     /db_xref="HGNC:HGNC:23406"
                     /db_xref="MIM:610746"
     exon            1..2074
                     /gene="DOLK"
                     /gene_synonym="CDG1M; DK; DK1; SEC59; TMEM15"
                     /inference="alignment:Splign:2.1.0"
     CDS             301..1917
                     /gene="DOLK"
                     /gene_synonym="CDG1M; DK; DK1; SEC59; TMEM15"
                     /EC_number="2.7.1.108"
                     /note="SEC59 homolog; transmembrane protein 15; dolichol
                     kinase 1"
                     /codon_start=1
                     /product="dolichol kinase"
                     /protein_id="NP_055723.1"
                     /db_xref="CCDS:CCDS6915.1"
                     /db_xref="GeneID:22845"
                     /db_xref="HGNC:HGNC:23406"
                     /db_xref="MIM:610746"
                     /translation="MTRECPSPAPGPGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSW
                     CAVALAVQAFYVQYKWDRLLQQGSAVFQFRMSANSGLLPASMVMPLLGLVMKERCQTA
                     GNPFFERFGIVVAATGMAVALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLS
                     VGEVIEVLEVLLIFVYLNMILLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVES
                     QGDPVDFFLLVVVVGMVLMGIFFSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLH
                     RLIRRNPLLWLLQFLFQTDTRIYLLAYWSLLATLACLVVLYQNAKRSSSESKKHQAPT
                     IARKYFHLIVVATYIPGIIFDRPLLYVAATVCLAVFIFLEYVRYFRIKPLGHTLRSFL
                     SLFLDERDSGPLILTHIYLLLGMSLPIWLIPRPCTQKGSLGGARALVPYAGVLAVGVG
                     DTVASIFGSTMGEIRWPGTKKTFEGTMTSIFAQIISVALILIFDSGVDLNYSYAWILG
                     SISTVSLLEAYTTQIDNLLLPLYLLILLMA"
     regulatory      2053..2058
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DOLK"
                     /gene_synonym="CDG1M; DK; DK1; SEC59; TMEM15"
                     /note="hexamer: AATAAA"
     polyA_site      2074
                     /gene="DOLK"
                     /gene_synonym="CDG1M; DK; DK1; SEC59; TMEM15"
                     /note="major polyA site"
ORIGIN      
        1 gccaagatgg cgaggcccaa agaggtgagg agccggcagc gggggcggct gtaactgtga
       61 ggaaggctgc agagtggcga cgtctacgcc gtaggttgga ggctgtgggg ggtggccggg
      121 cgccagctcc caggccgcag aagtgacctg cggtggagtt ccctcctcgc tgctggagaa
      181 cggagggaga aggttgctgg ccgggtgaaa gtgcctccct ctgcttgacg gggctgaggg
      241 gcccgaagtc tagggcgtcc gtagtcgccc cggcctccgt gaagccccag gtctagagat
      301 atgacccgag agtgcccatc tccggccccg gggcctgggg ctccgctgag tggatcggtg
      361 ctggcagagg cggcagtagt gtttgcagtg gtgctgagca tccacgcaac cgtatgggac
      421 cgatactcgt ggtgcgccgt ggccctcgca gtgcaggcct tctacgtcca atacaagtgg
      481 gaccggctgc tacagcaggg aagcgccgtc ttccagttcc gaatgtccgc aaacagtggc
      541 ctattgcccg cctccatggt catgcctttg cttggactag tcatgaagga gcggtgccag
      601 actgctggga acccgttctt tgagcgtttt ggcattgtgg tggcagccac tggcatggca
      661 gtggccctct tctcatcagt gttggcgctc ggcatcactc gcccagtgcc aaccaacact
      721 tgtgtcatct tgggcttggc tggaggtgtt atcatttata tcatgaagca ctcgttgagc
      781 gtgggggagg tgatcgaagt cctggaagtc cttctgatct tcgtttatct caacatgatc
      841 ctgctgtacc tgctgccccg ctgcttcacc cctggtgagg cactgctggt attgggtggc
      901 attagctttg tcctcaacca gctcatcaag cgctctctga cactggtgga aagtcagggg
      961 gacccagtgg acttcttcct gctggtggtg gtagtaggga tggtactcat gggcattttc
     1021 ttcagcactc tgtttgtctt catggactca ggcacctggg cctcctccat cttcttccac
     1081 ctcatgacct gtgtgctgag ccttggtgtg gtcctaccct ggctgcaccg gctcatccgc
     1141 aggaatcccc tgctctggct tcttcagttt ctcttccaga cagacacccg catctacctc
     1201 ctagcctatt ggtctctgct ggccaccttg gcctgcctgg tggtgctgta ccagaatgcc
     1261 aagcggtcat cttccgagtc caagaagcac caggccccca ccatcgcccg aaagtatttc
     1321 cacctcattg tggtagccac ctacatccca ggtatcatct ttgaccggcc actgctctat
     1381 gtagccgcca ctgtatgcct ggcggtcttc atcttcctgg agtatgtgcg ctacttccgc
     1441 atcaagcctt tgggtcacac tctacggagc ttcctgtccc tttttctgga tgaacgagac
     1501 agtggaccac tcattctgac acacatctac ctgctcctgg gcatgtctct tcccatctgg
     1561 ctgatcccca gaccctgcac acagaagggt agcctgggag gagccagggc cctcgtcccc
     1621 tatgccggtg tcctggctgt gggtgtgggt gatactgtgg cctccatctt cggtagcacc
     1681 atgggggaga tccgctggcc tggaaccaaa aagacttttg aggggaccat gacatctata
     1741 tttgcgcaga tcatttctgt agctctgatc ttaatctttg acagtggagt ggacctaaac
     1801 tacagttatg cttggatttt ggggtccatc agcactgtgt ccctcctgga agcatacact
     1861 acacagatag acaatctcct tctgcctctc tacctcctga tattgctgat ggcctagctg
     1921 ttacagtgca gcagcagtga cggaggaaac agacatgggg agggtgaaca gtccccacag
     1981 cagacagcta cttgggcatg aagagccaag gtgtgaaaag cagatttgat ttttcagttg
     2041 attcagattt aaaataaaaa gcaaagctct ccta
//
