LOCUS       NM_024079               1637 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ALG8 alpha-1,3-glucosyltransferase (ALG8), transcript
            variant 1, mRNA.
ACCESSION   NM_024079
VERSION     NM_024079.5
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 1637)
  AUTHORS   Apple,B., Sartori,G., Moore,B., Chintam,K., Singh,G., Anand,P.M.,
            Strande,N.T., Mirshahi,T., Triffo,W. and Chang,A.R.
  TITLE     Individuals heterozygous for ALG8 protein-truncating variants are
            at increased risk of a mild cystic kidney disease
  JOURNAL   Kidney Int 103 (3), 607-615 (2023)
   PUBMED   36574950
  REMARK    GeneRIF: Individuals heterozygous for ALG8 protein-truncating
            variants are at increased risk of a mild cystic kidney disease.
REFERENCE   2  (bases 1 to 1637)
  AUTHORS   Wu,X., Wang,B., Su,Y., He,D., Mo,H., Zheng,M., Meng,Z., Ren,L.,
            Zhang,X., Ren,D. and Li,C.
  TITLE     ALG8 Fuels Stemness Through Glycosylation of the WNT/Beta-Catenin
            Signaling Pathway in Colon Cancer
  JOURNAL   DNA Cell Biol 41 (12), 1075-1083 (2022)
   PUBMED   36454274
  REMARK    GeneRIF: ALG8 Fuels Stemness Through Glycosylation of the
            WNT/Beta-Catenin Signaling Pathway in Colon Cancer.
REFERENCE   3  (bases 1 to 1637)
  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   4  (bases 1 to 1637)
  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   5  (bases 1 to 1637)
  AUTHORS   Vuillaumier-Barrot,S., Schiff,M., Mattioli,F., Schaefer,E.,
            Dupont,A., Dancourt,J., Dupre,T., Couvineau,A., de Baulny,H.O., de
            Lonlay,P., Seta,N., Moore,S. and Chantret,I.
  TITLE     Wide clinical spectrum in ALG8-CDG: clues from molecular findings
            suggest an explanation for a milder phenotype in the
            first-described patient
  JOURNAL   Pediatr Res 85 (3), 384-389 (2019)
   PUBMED   30420707
  REMARK    GeneRIF: analysis of genetic variants in ALG8 in patients with
            congenital disorders of glycosylation
REFERENCE   6  (bases 1 to 1637)
  AUTHORS   Chantret,I., Dancourt,J., Dupre,T., Delenda,C., Bucher,S.,
            Vuillaumier-Barrot,S., Ogier de Baulny,H., Peletan,C., Danos,O.,
            Seta,N., Durand,G., Oriol,R., Codogno,P. and Moore,S.E.
  TITLE     A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl
            alpha3-glucosyltransferase defines a new subtype of congenital
            disorders of glycosylation
  JOURNAL   J Biol Chem 278 (11), 9962-9971 (2003)
   PUBMED   12480927
REFERENCE   7  (bases 1 to 1637)
  AUTHORS   Oriol,R., Martinez-Duncker,I., Chantret,I., Mollicone,R. and
            Codogno,P.
  TITLE     Common origin and evolution of glycosyltransferases using
            Dol-P-monosaccharides as donor substrate
  JOURNAL   Mol Biol Evol 19 (9), 1451-1463 (2002)
   PUBMED   12200473
REFERENCE   8  (bases 1 to 1637)
  AUTHORS   Stanchi,F., Bertocco,E., Toppo,S., Dioguardi,R., Simionati,B.,
            Cannata,N., Zimbello,R., Lanfranchi,G. and Valle,G.
  TITLE     Characterization of 16 novel human genes showing high similarity to
            yeast sequences
  JOURNAL   Yeast 18 (1), 69-80 (2001)
   PUBMED   11124703
REFERENCE   9  (bases 1 to 1637)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   10 (bases 1 to 1637)
  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 AK098614.1 and DB362104.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024079.4.
            
            Summary: This gene encodes a member of the ALG6/ALG8
            glucosyltransferase family. The encoded protein catalyzes the
            addition of the second glucose residue to the lipid-linked
            oligosaccharide precursor for N-linked glycosylation of proteins.
            Mutations in this gene have been associated with congenital
            disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript, but encodes the longer isoform (a).
            
            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 exon combination :: BC001133.2, SRR5189655.70914.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299626.10/ ENSP00000299626.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1636              AK098614.1         28-1663
            1637-1637           DB362104.1         6-6                 c
FEATURES             Location/Qualifiers
     source          1..1637
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     gene            1..1637
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /note="ALG8 alpha-1,3-glucosyltransferase"
                     /db_xref="GeneID:79053"
                     /db_xref="HGNC:HGNC:23161"
                     /db_xref="MIM:608103"
     exon            1..133
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..1619
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /EC_number="2.4.1.265"
                     /note="isoform a is encoded by transcript variant 1;
                     asparagine-linked glycosylation 8 homolog (yeast,
                     alpha-1,3-glucosyltransferase); asparagine-linked
                     glycosylation 8 homolog (S. cerevisiae,
                     alpha-1,3-glucosyltransferase); dolichyl pyrophosphate
                     Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase;
                     asparagine-linked glycosylation 8,
                     alpha-1,3-glucosyltransferase homolog;
                     dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl
                     glucosyltransferase; HUSSY-02; probable dolichyl
                     pyrophosphate Glc1Man9GlcNAc2
                     alpha-1,3-glucosyltransferase;
                     dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,
                     3-glucosyltransferase; asparagine-linked glycosylation
                     protein 8 homolog;
                     dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl
                     alpha-1,3-glucosyltransferase;
                     dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha-
                     1->3-glucosyltransferase; asparagine-linked glycosylation
                     8 alpha-13-glucosyltransferase-like protein"
                     /codon_start=1
                     /product="dolichyl pyrophosphate Glc1Man9GlcNAc2
                     alpha-1,3-glucosyltransferase isoform a"
                     /protein_id="NP_076984.2"
                     /db_xref="CCDS:CCDS8258.1"
                     /db_xref="GeneID:79053"
                     /db_xref="HGNC:HGNC:23161"
                     /db_xref="MIM:608103"
                     /translation="MAALTIATGTGNWFSALALGVTLLKCLLIPTYHSTDFEVHRNWL
                     AITHSLPISQWYYEATSEWTLDYPPFFAWFEYILSHVAKYFDQEMLNVHNLNYSSSRT
                     LLFQRFSVIFMDVLFVYAVRECCKCIDGKKVGKELTEKPKFILSVLLLWNFGLLIVDH
                     IHFQYNGFLFGLMLLSIARLFQKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYC
                     FTANKPDGSIRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLFPFKRGL
                     CHAYWAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTP
                     LATLICTLIAILPSIFCLWFKPQGPRGFLRCLTLCALSSFMFGWHVHEKAILLAILPM
                     SLLSVGKAGDASIFLILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFR
                     KEKPLFNWMETFYLLGLGPLEVCCEFVFPFTSWKVKYPFIPLLLTSVYCAVGITYAWF
                     KLYVSVLIDSAIGKTKKQ"
     exon            134..212
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            213..406
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            407..516
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            517..584
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            585..711
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            712..815
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            816..936
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            937..1076
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1216
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1314
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..1387
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1637
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1619..1624
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /note="hexamer: AATAAA"
     polyA_site      1637
                     /gene="ALG8"
                     /gene_synonym="CDG1H; PCLD3"
                     /note="major polyA site"
ORIGIN      
        1 gtggatcaag ttggtgggaa gcgtgcggtg ccgcagcaat ggcggcgctc acaattgcca
       61 cgggtactgg caattggttt tcggctttgg cgctcggggt gactcttctc aaatgccttc
      121 tcatccccac ataccattcc acagattttg aagtacaccg aaactggctt gctatcactc
      181 acagtttgcc aatatcacag tggtattatg aggcaacttc agagtggacg ttggattacc
      241 cccctttctt tgcatggttt gagtatatcc tgtcacatgt tgccaaatat tttgatcaag
      301 aaatgctgaa tgtccataat ttgaattact ccagctcaag gaccttactt ttccagagat
      361 tttccgtcat ctttatggat gtactctttg tgtatgctgt ccgtgagtgc tgtaaatgca
      421 ttgatggaaa aaaagtgggt aaagaactta cagaaaagcc aaaatttatt ctgtcggtat
      481 tacttctgtg gaacttcggg ttattaattg tggaccatat tcattttcag tacaatggct
      541 ttttatttgg attaatgcta ctctccattg cacgattatt tcagaaaagg catatggaag
      601 gagcatttct ctttgctgtt ctcctacatt tcaagcatat ctacctctat gtagcaccag
      661 cttatggtgt atatctgctg cgatcctact gtttcactgc aaataaacca gatgggtcta
      721 ttcgatggaa gagtttcagc tttgttcgtg ttatttccct gggactggtt gttttcttag
      781 tttctgctct ttcattgggt cctttcctgg ccttgaatca gctgcctcaa gtcttttccc
      841 gactctttcc tttcaagagg ggcctctgtc atgcatattg ggctccaaac ttctgggctt
      901 tgtacaatgc tttggacaaa gtgctgtctg tcatcggttt gaaattgaaa tttcttgatc
      961 ccaacaatat tcccaaggcc tcaatgacaa gtggtttggt tcagcagttc caacacacag
     1021 tccttccctc agtgactccc ttggcaaccc tcatctgcac actgattgcc atattgccct
     1081 ctattttctg tctttggttt aaaccccaag ggcccagagg ctttctccga tgtctaactc
     1141 tttgtgcctt gagctccttt atgtttgggt ggcatgttca tgaaaaagcc atacttctag
     1201 caattctccc aatgagcctt ttgtctgtgg gaaaagcagg agacgcttcg atttttctga
     1261 ttctgaccac aacaggacat tattccctct ttcctctgct cttcactgca ccagaacttc
     1321 ccattaaaat cttactcatg ttactattca ccatatatag tatttcgtca ctgaagactt
     1381 tattcagaaa agaaaaacct ctttttaatt ggatggaaac tttctacctg cttggcctgg
     1441 ggcctctgga agtctgctgt gaatttgtat tccctttcac ctcctggaag gtgaagtacc
     1501 ccttcatccc tttgttacta acctcagtgt attgtgcagt aggcatcaca tatgcttggt
     1561 tcaaactgta tgtttcagta ttgattgact ctgctattgg caagacaaag aaacaatgaa
     1621 taaaggaact gcttaga
//
