LOCUS       NM_013338               1219 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ALG5 dolichyl-phosphate beta-glucosyltransferase
            (ALG5), transcript variant 1, mRNA.
ACCESSION   NM_013338
VERSION     NM_013338.5
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 1219)
  AUTHORS   Zhou,Y., Liu,Y., Gupta,S., Paramo,M.I., Hou,Y., Mao,C., Luo,Y.,
            Judd,J., Wierbowski,S., Bertolotti,M., Nerkar,M., Jehi,L.,
            Drayman,N., Nicolaescu,V., Gula,H., Tay,S., Randall,G., Wang,P.,
            Lis,J.T., Feschotte,C., Erzurum,S.C., Cheng,F. and Yu,H.
  TITLE     A comprehensive SARS-CoV-2-human protein-protein interactome
            reveals COVID-19 pathobiology and potential host therapeutic
            targets
  JOURNAL   Nat Biotechnol 41 (1), 128-139 (2023)
   PUBMED   36217030
REFERENCE   2  (bases 1 to 1219)
  AUTHORS   Lemoine,H., Raud,L., Foulquier,F., Sayer,J.A., Lambert,B.,
            Olinger,E., Lefevre,S., Knebelmann,B., Harris,P.C., Trouve,P.,
            Despres,A., Duneau,G., Matignon,M., Poyet,A., Jourde-Chiche,N.,
            Guerrot,D., Lemoine,S., Seret,G., Barroso-Gil,M., Bingham,C.,
            Gilbert,R., Le Meur,Y., Audrezet,M.P. and Cornec-Le Gall,E.
  CONSRTM   Genomics England Research Consortium; Genkyst Study Group
  TITLE     Monoallelic pathogenic ALG5 variants cause atypical polycystic
            kidney disease and interstitial fibrosis
  JOURNAL   Am J Hum Genet 109 (8), 1484-1499 (2022)
   PUBMED   35896117
  REMARK    GeneRIF: Monoallelic pathogenic ALG5 variants cause atypical
            polycystic kidney disease and interstitial fibrosis.
REFERENCE   3  (bases 1 to 1219)
  AUTHORS   Li,J., Guo,M., Tian,X., Wang,X., Yang,X., Wu,P., Liu,C., Xiao,Z.,
            Qu,Y., Yin,Y., Wang,C., Zhang,Y., Zhu,Z., Liu,Z., Peng,C., Zhu,T.
            and Liang,Q.
  TITLE     Virus-Host Interactome and Proteomic Survey Reveal Potential
            Virulence Factors Influencing SARS-CoV-2 Pathogenesis
  JOURNAL   Med 2 (1), 99-112 (2021)
   PUBMED   32838362
REFERENCE   4  (bases 1 to 1219)
  AUTHORS   Gordon,D.E., Hiatt,J., Bouhaddou,M., Rezelj,V.V., Ulferts,S.,
            Braberg,H., Jureka,A.S., Obernier,K., Guo,J.Z., Batra,J.,
            Kaake,R.M., Weckstein,A.R., Owens,T.W., Gupta,M., Pourmal,S.,
            Titus,E.W., Cakir,M., Soucheray,M., McGregor,M., Cakir,Z., Jang,G.,
            O'Meara,M.J., Tummino,T.A., Zhang,Z., Foussard,H., Rojc,A.,
            Zhou,Y., Kuchenov,D., Huttenhain,R., Xu,J., Eckhardt,M.,
            Swaney,D.L., Fabius,J.M., Ummadi,M., Tutuncuoglu,B., Rathore,U.,
            Modak,M., Haas,P., Haas,K.M., Naing,Z.Z.C., Pulido,E.H., Shi,Y.,
            Barrio-Hernandez,I., Memon,D., Petsalaki,E., Dunham,A.,
            Marrero,M.C., Burke,D., Koh,C., Vallet,T., Silvas,J.A.,
            Azumaya,C.M., Billesbolle,C., Brilot,A.F., Campbell,M.G.,
            Diallo,A., Dickinson,M.S., Diwanji,D., Herrera,N., Hoppe,N.,
            Kratochvil,H.T., Liu,Y., Merz,G.E., Moritz,M., Nguyen,H.C.,
            Nowotny,C., Puchades,C., Rizo,A.N., Schulze-Gahmen,U., Smith,A.M.,
            Sun,M., Young,I.D., Zhao,J., Asarnow,D., Biel,J., Bowen,A.,
            Braxton,J.R., Chen,J., Chio,C.M., Chio,U.S., Deshpande,I., Doan,L.,
            Faust,B., Flores,S., Jin,M., Kim,K., Lam,V.L., Li,F., Li,J.,
            Li,Y.L., Li,Y., Liu,X., Lo,M., Lopez,K.E., Melo,A.A., Moss,F.R.
            3rd, Nguyen,P., Paulino,J., Pawar,K.I., Peters,J.K., Pospiech,T.H.
            Jr., Safari,M., Sangwan,S., Schaefer,K., Thomas,P.V., Thwin,A.C.,
            Trenker,R., Tse,E., Tsui,T.K.M., Wang,F., Whitis,N., Yu,Z.,
            Zhang,K., Zhang,Y., Zhou,F., Saltzberg,D., Hodder,A.J.,
            Shun-Shion,A.S., Williams,D.M., White,K.M., Rosales,R., Kehrer,T.,
            Miorin,L., Moreno,E., Patel,A.H., Rihn,S., Khalid,M.M.,
            Vallejo-Gracia,A., Fozouni,P., Simoneau,C.R., Roth,T.L., Wu,D.,
            Karim,M.A., Ghoussaini,M., Dunham,I., Berardi,F., Weigang,S.,
            Chazal,M., Park,J., Logue,J., McGrath,M., Weston,S., Haupt,R.,
            Hastie,C.J., Elliott,M., Brown,F., Burness,K.A., Reid,E.,
            Dorward,M., Johnson,C., Wilkinson,S.G., Geyer,A., Giesel,D.M.,
            Baillie,C., Raggett,S., Leech,H., Toth,R., Goodman,N., Keough,K.C.,
            Lind,A.L., Klesh,R.J., Hemphill,K.R., Carlson-Stevermer,J., Oki,J.,
            Holden,K., Maures,T., Pollard,K.S., Sali,A., Agard,D.A., Cheng,Y.,
            Fraser,J.S., Frost,A., Jura,N., Kortemme,T., Manglik,A.,
            Southworth,D.R., Stroud,R.M., Alessi,D.R., Davies,P., Frieman,M.B.,
            Ideker,T., Abate,C., Jouvenet,N., Kochs,G., Shoichet,B., Ott,M.,
            Palmarini,M., Shokat,K.M., Garcia-Sastre,A., Rassen,J.A.,
            Grosse,R., Rosenberg,O.S., Verba,K.A., Basler,C.F., Vignuzzi,M.,
            Peden,A.A., Beltrao,P. and Krogan,N.J.
  CONSRTM   QCRG Structural Biology Consortium; Zoonomia Consortium
  TITLE     Comparative host-coronavirus protein interaction networks reveal
            pan-viral disease mechanisms
  JOURNAL   Science 370 (6521) (2020)
   PUBMED   33060197
REFERENCE   5  (bases 1 to 1219)
  AUTHORS   Gordon,D.E., Jang,G.M., Bouhaddou,M., Xu,J., Obernier,K.,
            White,K.M., O'Meara,M.J., Rezelj,V.V., Guo,J.Z., Swaney,D.L.,
            Tummino,T.A., Huttenhain,R., Kaake,R.M., Richards,A.L.,
            Tutuncuoglu,B., Foussard,H., Batra,J., Haas,K., Modak,M., Kim,M.,
            Haas,P., Polacco,B.J., Braberg,H., Fabius,J.M., Eckhardt,M.,
            Soucheray,M., Bennett,M.J., Cakir,M., McGregor,M.J., Li,Q.,
            Meyer,B., Roesch,F., Vallet,T., Mac Kain,A., Miorin,L., Moreno,E.,
            Naing,Z.Z.C., Zhou,Y., Peng,S., Shi,Y., Zhang,Z., Shen,W.,
            Kirby,I.T., Melnyk,J.E., Chorba,J.S., Lou,K., Dai,S.A.,
            Barrio-Hernandez,I., Memon,D., Hernandez-Armenta,C., Lyu,J.,
            Mathy,C.J.P., Perica,T., Pilla,K.B., Ganesan,S.J., Saltzberg,D.J.,
            Rakesh,R., Liu,X., Rosenthal,S.B., Calviello,L., Venkataramanan,S.,
            Liboy-Lugo,J., Lin,Y., Huang,X.P., Liu,Y., Wankowicz,S.A., Bohn,M.,
            Safari,M., Ugur,F.S., Koh,C., Savar,N.S., Tran,Q.D., Shengjuler,D.,
            Fletcher,S.J., O'Neal,M.C., Cai,Y., Chang,J.C.J., Broadhurst,D.J.,
            Klippsten,S., Sharp,P.P., Wenzell,N.A., Kuzuoglu-Ozturk,D.,
            Wang,H.Y., Trenker,R., Young,J.M., Cavero,D.A., Hiatt,J.,
            Roth,T.L., Rathore,U., Subramanian,A., Noack,J., Hubert,M.,
            Stroud,R.M., Frankel,A.D., Rosenberg,O.S., Verba,K.A., Agard,D.A.,
            Ott,M., Emerman,M., Jura,N., von Zastrow,M., Verdin,E.,
            Ashworth,A., Schwartz,O., d'Enfert,C., Mukherjee,S., Jacobson,M.,
            Malik,H.S., Fujimori,D.G., Ideker,T., Craik,C.S., Floor,S.N.,
            Fraser,J.S., Gross,J.D., Sali,A., Roth,B.L., Ruggero,D.,
            Taunton,J., Kortemme,T., Beltrao,P., Vignuzzi,M., Garcia-Sastre,A.,
            Shokat,K.M., Shoichet,B.K. and Krogan,N.J.
  TITLE     A SARS-CoV-2 protein interaction map reveals targets for drug
            repurposing
  JOURNAL   Nature 583 (7816), 459-468 (2020)
   PUBMED   32353859
REFERENCE   6  (bases 1 to 1219)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 1219)
  AUTHORS   Imbach,T., Burda,P., Kuhnert,P., Wevers,R.A., Aebi,M., Berger,E.G.
            and Hennet,T.
  TITLE     A mutation in the human ortholog of the Saccharomyces cerevisiae
            ALG6 gene causes carbohydrate-deficient glycoprotein syndrome
            type-Ic
  JOURNAL   Proc Natl Acad Sci U S A 96 (12), 6982-6987 (1999)
   PUBMED   10359825
REFERENCE   8  (bases 1 to 1219)
  AUTHORS   Harris,P.C. and Torres,V.E.
  TITLE     Polycystic Kidney Disease, Autosomal Dominant
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301424
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP246765.1, BC012531.1,
            BU739112.1 and AL138706.9.
            
            On Nov 23, 2018 this sequence version replaced NM_013338.4.
            
            Summary: This gene encodes a member of the glycosyltransferase 2
            family. The encoded protein participates in glucosylation of the
            oligomannose core in N-linked glycosylation of proteins. The
            addition of glucose residues to the oligomannose core is necessary
            to ensure substrate recognition, and therefore, effectual transfer
            of the oligomannose core to the nascent glycoproteins. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.358595.1,
                                           SRR3476690.859148.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000239891.4/ ENSP00000239891.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                BP246765.1         28-52
            26-1100             BC012531.1         5-1079
            1101-1187           BU739112.1         14-100              c
            1188-1219           AL138706.9         106782-106813       c
FEATURES             Location/Qualifiers
     source          1..1219
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     gene            1..1219
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /note="ALG5 dolichyl-phosphate beta-glucosyltransferase"
                     /db_xref="GeneID:29880"
                     /db_xref="HGNC:HGNC:20266"
                     /db_xref="MIM:604565"
     exon            1..106
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1015
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /EC_number="2.4.1.117"
                     /note="isoform 1 is encoded by transcript variant 1;
                     asparagine-linked glycosylation 5 homolog (yeast,
                     dolichyl-phosphate beta-glucosyltransferase);
                     asparagine-linked glycosylation 5 homolog (S. cerevisiae,
                     dolichyl-phosphate beta-glucosyltransferase); dolichyl
                     phosphate glucosyltransferase; Alg5, S. cerevisiae,
                     homolog of; dolP-glucosyltransferase; asparagine-linked
                     glycosylation protein 5 homolog; asparagine-linked
                     glycosylation 5, dolichyl-phosphate
                     beta-glucosyltransferase homolog"
                     /codon_start=1
                     /product="dolichyl-phosphate beta-glucosyltransferase
                     isoform 1"
                     /protein_id="NP_037470.1"
                     /db_xref="CCDS:CCDS9361.1"
                     /db_xref="GeneID:29880"
                     /db_xref="HGNC:HGNC:20266"
                     /db_xref="MIM:604565"
                     /translation="MAPLLLQLAVLGAALAAAALVLISIVAFTTATKMPALHRHEEEK
                     FFLNAKGQKETLPSIWDSPTKQLSVVVPSYNEEKRLPVMMDEALSYLEKRQKRDPAFT
                     YEVIVVDDGSKDQTSKVAFKYCQKYGSDKVRVITLVKNRGKGGAIRMGIFSSRGEKIL
                     MADADGATKFPDVEKLEKGLNDLQPWPNQMAIACGSRAHLEKESIAQRSYFRTLLMYG
                     FHFLVWFLCVKGIRDTQCGFKLFTREAASRTFSSLHVERWAFDVELLYIAQFFKIPIA
                     EIAVNWTEIEGSKLVPFWSWLQMGKDLLFIRLRYLTGAWRLEQTRKMN"
     exon            107..278
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /inference="alignment:Splign:2.1.0"
     exon            279..325
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /inference="alignment:Splign:2.1.0"
     exon            326..394
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /inference="alignment:Splign:2.1.0"
     exon            395..487
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /inference="alignment:Splign:2.1.0"
     exon            488..601
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /inference="alignment:Splign:2.1.0"
     exon            602..661
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /inference="alignment:Splign:2.1.0"
     exon            662..813
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /inference="alignment:Splign:2.1.0"
     exon            814..899
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /inference="alignment:Splign:2.1.0"
     exon            900..1219
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1099..1104
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /note="hexamer: AATAAA"
     polyA_site      1109
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /note="major polyA site"
     regulatory      1156..1161
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /note="hexamer: AGTAAA"
     regulatory      1164..1169
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /note="hexamer: ATTATA"
     polyA_site      1181
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
     regulatory      1182..1187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
                     /note="hexamer: TATAAA"
     polyA_site      1187
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
     polyA_site      1219
                     /gene="ALG5"
                     /gene_synonym="bA421P11.2; PKD7"
ORIGIN      
        1 gtggaggtgc gggattgggc gggctgccac ggcatggaga atggctccgc ttctgttgca
       61 gctggcggtg ctcggcgcgg cgctggcggc cgcagccctc gtactgattt ccatcgttgc
      121 atttacaact gctacaaaaa tgccagcact ccatcgacat gaagaagaga aattcttctt
      181 aaatgccaaa ggccagaaag aaactttacc cagcatatgg gactcaccta ccaaacaact
      241 ttctgtcgtt gtgccttcat acaatgaaga aaaacggttg cctgtgatga tggatgaagc
      301 tctgagctat ctagagaaga gacagaaacg agatcctgcg ttcacttatg aagtgatagt
      361 agttgatgat ggcagtaaag atcagacctc aaaggtagct tttaaatatt gccagaaata
      421 tggaagtgac aaagtacgtg tgataaccct ggtgaagaat cgtggaaaag gtggagcgat
      481 tagaatgggt atattcagtt ctcgaggaga aaagatcctt atggcagatg ctgatggagc
      541 cacaaagttt ccagatgttg agaaattaga aaaggggcta aatgatctac agccttggcc
      601 taatcaaatg gctatagcat gtggatctcg agctcattta gaaaaagaat caattgctca
      661 gcgttcttac ttccgtactc ttctcatgta tgggttccac tttctggtgt ggttcctttg
      721 tgtcaaagga atcagggaca cacagtgtgg gttcaaatta tttactcgag aagcagcttc
      781 acggacgttt tcatctctac acgttgaacg atgggcattt gatgtagaac tactgtacat
      841 agcacagttc tttaaaattc caatagcaga aattgctgtc aactggacag aaattgaagg
      901 ttctaaatta gttccattct ggagctggct acaaatgggt aaagacctac tttttatacg
      961 acttcgatat ttgactggtg cctggaggct tgagcaaact cggaaaatga attaggttgt
     1021 ttgcagtctt cagttgtgtt cttatgcttc agtgtcacat ttcatttcat ttgaaactaa
     1081 aattttaagt aaagctgaaa taaacttctt gtcattgtct gccttttgat aattttaaag
     1141 aaataacttt ccataagtaa aaaattatat atctctttgg atataaatga tttttaaaag
     1201 atgtttattt aaaaagtca
//
