LOCUS       NM_013339               3325 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens ALG6 alpha-1,3-glucosyltransferase (ALG6), mRNA.
ACCESSION   NM_013339
VERSION     NM_013339.4
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 3325)
  AUTHORS   Monson,E., Cideciyan,A.V., Roman,A.J., Sumaroka,A., Swider,M.,
            Wu,V., Viarbitskaya,I., Jacobson,S.G., Fliesler,S.J. and
            Pittler,S.J.
  TITLE     Inherited Retinal Degeneration Caused by Dehydrodolichyl
            Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant
  JOURNAL   Int J Mol Sci 25 (2), 1004 (2024)
   PUBMED   38256083
  REMARK    GeneRIF: Inherited Retinal Degeneration Caused by Dehydrodolichyl
            Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3325)
  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   3  (bases 1 to 3325)
  AUTHORS   Starosta,R.T., Tarnowski,J., Vairo,F.P.E., Raymond,K., Preston,G.
            and Morava,E.
  TITLE     Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially
            diagnosed as ALG6-CDG: Functional evidence for benignity of the
            ALG6 c.391T>C (p.Tyr131His) variant and further expanding the
            BBSOAS phenotype
  JOURNAL   Eur J Med Genet 63 (7), 103941 (2020)
   PUBMED   32407885
  REMARK    GeneRIF: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
            initially diagnosed as ALG6-CDG: Functional evidence for benignity
            of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding
            the BBSOAS phenotype.
REFERENCE   4  (bases 1 to 3325)
  AUTHORS   Morava,E., Tiemes,V., Thiel,C., Seta,N., de Lonlay,P., de Klerk,H.,
            Mulder,M., Rubio-Gozalbo,E., Visser,G., van Hasselt,P.,
            Horovitz,D.D.G., de Souza,C.F.M., Schwartz,I.V.D., Green,A.,
            Al-Owain,M., Uziel,G., Sigaudy,S., Chabrol,B., van Spronsen,F.J.,
            Steinert,M., Komini,E., Wurm,D., Bevot,A., Ayadi,A., Huijben,K.,
            Dercksen,M., Witters,P., Jaeken,J., Matthijs,G., Lefeber,D.J. and
            Wevers,R.A.
  TITLE     ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle
            weakness, ataxia and behavioral and limb anomalies
  JOURNAL   J Inherit Metab Dis 39 (5), 713-723 (2016)
   PUBMED   27287710
  REMARK    GeneRIF: ALG6-CDG has been now described in 89 patients.
            Erratum:[J Inherit Metab Dis. 2016 Sep;39(5):759. doi:
            10.1007/s10545-016-9967-4.. PMID: 27498540]
REFERENCE   5  (bases 1 to 3325)
  AUTHORS   Shrimal,S. and Gilmore,R.
  TITLE     Reduced expression of the oligosaccharyltransferase exacerbates
            protein hypoglycosylation in cells lacking the fully assembled
            oligosaccharide donor
  JOURNAL   Glycobiology 25 (7), 774-783 (2015)
   PUBMED   25792706
REFERENCE   6  (bases 1 to 3325)
  AUTHORS   Imbach,T., Grunewald,S., Schenk,B., Burda,P., Schollen,E.,
            Wevers,R.A., Jaeken,J., de Klerk,J.B., Berger,E.G., Matthijs,G.,
            Aebi,M. and Hennet,T.
  TITLE     Multi-allelic origin of congenital disorder of glycosylation
            (CDG)-Ic
  JOURNAL   Hum Genet 106 (5), 538-545 (2000)
   PUBMED   10914684
REFERENCE   7  (bases 1 to 3325)
  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 3325)
  AUTHORS   Korner,C., Knauer,R., Holzbach,U., Hanefeld,F., Lehle,L. and von
            Figura,K.
  TITLE     Carbohydrate-deficient glycoprotein syndrome type V: deficiency of
            dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 95 (22), 13200-13205 (1998)
   PUBMED   9789065
REFERENCE   9  (bases 1 to 3325)
  AUTHORS   Burda,P., Borsig,L., de Rijk-van Andel,J., Wevers,R., Jaeken,J.,
            Carchon,H., Berger,E.G. and Aebi,M.
  TITLE     A novel carbohydrate-deficient glycoprotein syndrome characterized
            by a deficiency in glucosylation of the dolichol-linked
            oligosaccharide
  JOURNAL   J Clin Invest 102 (4), 647-652 (1998)
   PUBMED   9710431
REFERENCE   10 (bases 1 to 3325)
  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 BI819904.1, BC001253.1 and
            AL592218.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 30, 2018 this sequence version replaced NM_013339.3.
            
            Summary: This gene encodes a member of the ALG6/ALG8
            glucosyltransferase family. The encoded protein catalyzes the
            addition of the first glucose residue to the growing lipid-linked
            oligosaccharide precursor of N-linked glycosylation. Mutations in
            this gene are associated with congenital disorders of glycosylation
            type Ic. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: SRR1660807.116787.1,
                                           SRR1803612.162459.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263440.6/ ENSP00000263440.5
            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
            1-31                BI819904.1         38-68
            32-1178             BC001253.1         1-1147
            1179-1179           AL592218.8         4447-4447
            1180-1973           BC001253.1         1149-1942
            1974-3325           AL592218.8         25768-27119
FEATURES             Location/Qualifiers
     source          1..3325
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..3325
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /note="ALG6 alpha-1,3-glucosyltransferase"
                     /db_xref="GeneID:29929"
                     /db_xref="HGNC:HGNC:23157"
                     /db_xref="MIM:604566"
     exon            1..61
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            62..350
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     CDS             269..1792
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /EC_number="2.4.1.267"
                     /note="Man(9)GlcNAc(2)-PP-Dol
                     alpha-1,3-glucosyltransferase; asparagine-linked
                     glycosylation 6 homolog (S. cerevisiae,
                     alpha-1,3-glucosyltransferase); asparagine-linked
                     glycosylation 6 homolog (yeast,
                     alpha-1,3-glucosyltransferase);
                     dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase;
                     asparagine-linked glycosylation protein 6 homolog;
                     dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl
                     glucosyltransferase; dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol
                     alpha-1,3-glucosyltransferase; asparagine-linked
                     glycosylation 6, alpha-1,3-glucosyltransferase homolog;
                     dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha-
                     1->3-glucosyltransferase"
                     /codon_start=1
                     /product="dolichyl pyrophosphate Man9GlcNAc2
                     alpha-1,3-glucosyltransferase"
                     /protein_id="NP_037471.2"
                     /db_xref="CCDS:CCDS30735.1"
                     /db_xref="GeneID:29929"
                     /db_xref="HGNC:HGNC:23157"
                     /db_xref="MIM:604566"
                     /translation="MEKWYLMTVVVLIGLTVRWTVSLNSYSGAGKPPMFGDYEAQRHW
                     QEITFNLPVKQWYFNSSDNNLQYWGLDYPPLTAYHSLLCAYVAKFINPDWIALHTSRG
                     YESQAHKLFMRTTVLIADLLIYIPAVVLYCCCLKEISTKKKIANALCILLYPGLILID
                     YGHFQYNSVSLGFALWGVLGISCDCDLLGSLAFCLAINYKQMELYHALPFFCFLLGKC
                     FKKGLKGKGFVLLVKLACIVVASFVLCWLPFFTEREQTLQVLRRLFPVDRGLFEDKVA
                     NIWCSFNVFLKIKDILPRHIQLIMSFCSTFLSLLPACIKLILQPSSKGFKFTLVSCAL
                     SFFLFSFQVHEKSILLVSLPVCLVLSEIPFMSTWFLLVSTFSMLPLLLKDELLMPSVV
                     TTMAFFIACVTSFSIFEKTSEEELQLKSFSISVRKYLPCFTFLSRIIQYLFLISVITM
                     VLLTLMTVTLDPPQKLPDLFSVLVCFVSCLNFLFFLVYFNIIIMWDSKSGRNQKKIS"
     exon            351..435
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            436..525
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            526..614
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            615..697
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            698..762
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            763..948
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1084
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1170
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1255
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..1326
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1395
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1594
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..3325
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1951..1956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /note="hexamer: AATAAA"
     polyA_site      1973
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /note="major polyA site"
     regulatory      2784..2789
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /note="hexamer: AATAAA"
     polyA_site      2809
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
     regulatory      3289..3294
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
                     /note="hexamer: AATAAA"
     polyA_site      3309
                     /gene="ALG6"
                     /gene_synonym="CDG1C"
ORIGIN      
        1 gcgcatgcgc cttcctggga cccacggcag gcgcgaatcc cagcggccgg cgggcggcgg
       61 ggatacttct acatagacat aatcaagttt tgactatttg gaaaccaagc atcattaaaa
      121 ttctctcaaa ctcctaattg cgaagaatcg ataacatttc aagaagtgat aacatttctc
      181 tgaacaagaa aagaagtgat tgaccacgtt ttaaaagtac tctggcactg gtgctgtgtt
      241 ttcttcccct ccctaaattt gaagaactat ggagaaatgg tacttgatga cagtagtggt
      301 tttaatagga ctaacagtac gatggacagt gtctcttaat tcttattcag gtgctggtaa
      361 accgcctatg tttggtgatt atgaagctca gagacactgg caagaaataa cttttaattt
      421 accggtcaaa caatggtatt ttaacagcag tgataacaat ttacagtatt ggggattgga
      481 ttacccacct cttacagctt atcatagtct cctatgtgca tatgtggcaa agtttataaa
      541 tccagactgg attgctctcc atacatcacg tggatatgag agtcaggcac ataagctctt
      601 catgcgtaca acagttttaa ttgctgatct gctgatttac atacctgcag tggttttgta
      661 ctgttgttgc ttaaaagaaa tctcaactaa gaaaaagatt gctaatgcat tatgcatctt
      721 gctgtatcca ggccttattc ttatagacta tggacatttt caatataatt ctgtgagtct
      781 tggctttgct ttgtggggtg ttcttggaat atcttgtgac tgcgacctcc tagggtcact
      841 ggcattttgc ttagctataa attataaaca gatggaactt taccacgcct tgccattttt
      901 ttgcttttta cttggcaagt gttttaaaaa aggcctcaaa ggaaaggggt ttgtgttgct
      961 agttaagcta gcttgtattg ttgtggcttc cttcgttctc tgctggctgc cattctttac
     1021 agaaagggaa caaaccctgc aggttctaag aagactcttc ccggttgatc gtggattatt
     1081 tgaggataaa gtagccaata tttggtgcag cttcaatgtc tttctgaaga ttaaggatat
     1141 tttgccacgt cacatccaat taataatgag cttttgttct acgtttttga gcctgcttcc
     1201 tgcatgcata aaattaatac ttcagccctc ttccaaagga ttcaaattta cactggttag
     1261 ctgtgcgcta tcattctttt tattttcttt ccaagtacat gaaaaatcca ttctcttggt
     1321 gtcactacca gtctgcttag ttttaagtga aattcctttt atgtctactt ggtttttact
     1381 tgtgtcaaca tttagtatgc tacctcttct attgaaggat gaactcctaa tgccctctgt
     1441 tgtgacaaca atggcatttt ttatagcttg tgtaacttcc ttttcaatat ttgaaaagac
     1501 ttctgaagaa gaactgcagt tgaaatcctt ttccatttct gtgaggaaat atcttccatg
     1561 ttttacattt ctttccagaa ttatacaata tttgtttctt atctcagtca tcactatggt
     1621 gcttctgacg ttgatgactg tcacactgga tcctcctcag aaactaccgg acttgttttc
     1681 tgtattggtg tgttttgtat cttgcttgaa cttcctgttc ttcttggtat actttaacat
     1741 tattattatg tgggattcca aaagtggaag aaatcagaag aaaatcagct agctgtattc
     1801 ctaaacaaat tgtttcctaa acaaatgtga aaatgtgaac agtgctgaaa ggttttgtga
     1861 actttttgct atgtataaat gaaattacca ttttgagaac catggaacca caggaaagga
     1921 aatggtgaaa agtcattgtt gtctacacaa aataaatgta tatggagacc aaagaccaat
     1981 ggaggcttgt ctaagtactg cttggccaaa acatgtggtt ttattattca cagctattca
     2041 agtggggaaa aaagagaaac atgtccttaa tcccattgtt tactcaggaa atgcactttt
     2101 taaatgtctt taaaaaactg agaaatattt cttgatattt gctttgtcta aacctacttc
     2161 cttcatcaga ccatatagtg agcttcatgg gagaattgag ccccttcttt ttaatggaaa
     2221 tcactaattt tggtattcaa acttacattt tagaatgcaa gtagtgtgta tttcactgtt
     2281 tagaagtcat atcttaggga attaaatttg tgataatctt tttaattact gagaaggcaa
     2341 tttaaactgc ttgaagtttg aatatgcctt attacacatg caaatttgat tgttttaaca
     2401 aggcaaataa accataatct tatttatttc caagaatgca tattttaata caattaaaaa
     2461 tgaattttcc tgaatttaaa tgtaagcttt aacttaactt taagtggttt gagtgaagtc
     2521 ttctaaatta cacataatca ctggttctaa acttccagaa ccattctgtt taattaaaca
     2581 ttatattata tatatattat tattgacatg gttcagggtt accactgcca gagcattgat
     2641 tcatgttaac ttcatcctat taatactgta tcaccctgta ttagcagaag ccaatattta
     2701 ttatagtatt caactggtaa aaataataca tgatatccat gttgcagttt ctcatataaa
     2761 gatatgtttt ctttagcctc tgtaataaag ataatcattt tcccatcaac attttttaag
     2821 gaatatattt cttctttcat aagatagcca ttaaactata ttaagtggtg gtatatttta
     2881 atatagtgca aatcaaacca catacaaaaa aaaactggtt ctagacacgg acagtcacag
     2941 gctgatataa gaaggtatgt gtttctaagt ctggtaaagg aagtgggttt agacaaagca
     3001 aaaatctaga aaggtttctt tctcaaagca aatgtgcata aagactcaaa gggcaggtca
     3061 acgcagaata gcagccttga atcactgccg aatcagcaag aacattgctg tccatggtca
     3121 ccatctgtaa tcactgtgcc caaatgtcag catcttggct ggctggtgta gctttatttt
     3181 taaaaatatt ttttgtaata gtacacttgt gtttaacata gaatgttgac ttagataaat
     3241 gatgaggaag ttataaataa ttggagtagc ataactttat tatttggaaa taaaagtatt
     3301 atgtacatat attagtaaaa tgaaa
//
