LOCUS       NM_033087               2808 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ALG2 alpha-1,3/1,6-mannosyltransferase (ALG2),
            transcript variant 1, mRNA.
ACCESSION   NM_033087
VERSION     NM_033087.4
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 2808)
  AUTHORS   Xiang,M.H., Xu,X.X., Wang,C.D., Chen,S., Xu,S., Xu,X.Y., Dean,N.,
            Wang,N. and Gao,X.D.
  TITLE     Topological and enzymatic analysis of human Alg2
            mannosyltransferase reveals its role in lipid-linked
            oligosaccharide biosynthetic pathway
  JOURNAL   Commun Biol 5 (1), 117 (2022)
   PUBMED   35136180
  REMARK    GeneRIF: Topological and enzymatic analysis of human Alg2
            mannosyltransferase reveals its role in lipid-linked
            oligosaccharide biosynthetic pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2808)
  AUTHORS   Ji,W., Zhang,L., Xu,X. and Liu,X.
  TITLE     ALG2 regulates type I interferon responses by inhibiting STING
            trafficking
  JOURNAL   J Cell Sci 134 (24) (2021)
   PUBMED   34787301
REFERENCE   3  (bases 1 to 2808)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2808)
  AUTHORS   Viding,E., Price,T.S., Jaffee,S.R., Trzaskowski,M., Davis,O.S.,
            Meaburn,E.L., Haworth,C.M. and Plomin,R.
  TITLE     Genetics of callous-unemotional behavior in children
  JOURNAL   PLoS One 8 (7), e65789 (2013)
   PUBMED   23874384
  REMARK    Erratum:[PLoS One. 2013;8(7). doi:
            10.1371/annotation/0b16418f-ceb5-41b2-be2a-a20f0c56f9a6]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2808)
  AUTHORS   Jaeken,J. and Carchon,H.
  TITLE     Congenital disorders of glycosylation: a booming chapter of
            pediatrics
  JOURNAL   Curr Opin Pediatr 16 (4), 434-439 (2004)
   PUBMED   15273506
  REMARK    Review article
REFERENCE   6  (bases 1 to 2808)
  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   7  (bases 1 to 2808)
  AUTHORS   Jaeken,J.
  TITLE     Congenital disorders of glycosylation (CDG): update and new
            developments
  JOURNAL   J Inherit Metab Dis 27 (3), 423-426 (2004)
   PUBMED   15272470
  REMARK    Review article
REFERENCE   8  (bases 1 to 2808)
  AUTHORS   Thiel,C., Schwarz,M., Peng,J., Grzmil,M., Hasilik,M., Braulke,T.,
            Kohlschutter,A., von Figura,K., Lehle,L. and Korner,C.
  TITLE     A new type of congenital disorders of glycosylation (CDG-Ii)
            provides new insights into the early steps of dolichol-linked
            oligosaccharide biosynthesis
  JOURNAL   J Biol Chem 278 (25), 22498-22505 (2003)
   PUBMED   12684507
REFERENCE   9  (bases 1 to 2808)
  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
REFERENCE   10 (bases 1 to 2808)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB019023.1, AB161356.1,
            AK075189.1 and AA017454.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_033087.3.
            
            Summary: This gene encodes a member of the glycosyltransferase 1
            family. The encoded protein acts as an alpha 1,3
            mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol
            diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form
            Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have
            been associated with congenital disorder of glycosylation type Ih
            (CDG-Ii). Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript.
            
            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 :: SRR1803616.257063.1,
                                           SRR1660809.22964.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000476832.2/ ENSP00000417764.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DB019023.1         24-44
            22-1866             AB161356.1         1-1845
            1867-2788           AK075189.1         1109-2030
            2789-2808           AA017454.1         5-24                c
FEATURES             Location/Qualifiers
     source          1..2808
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     gene            1..2808
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
                     /note="ALG2 alpha-1,3/1,6-mannosyltransferase"
                     /db_xref="GeneID:85365"
                     /db_xref="HGNC:HGNC:23159"
                     /db_xref="MIM:607905"
     exon            1..396
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..1299
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
                     /EC_number="2.4.1.132"
                     /EC_number="2.4.1.257"
                     /note="GDP-Man:Man(1)GlcNAc(2)-PP-dolichol
                     mannosyltransferase; homolog of yeast ALG2;
                     GDP-Man:Man(1)GlcNAc(2)-PP-Dol
                     alpha-1,3-mannosyltransferase; asparagine-linked
                     glycosylation 2 homolog (yeast,
                     alpha-1,3-mannosyltransferase); asparagine-linked
                     glycosylation 2 homolog (S. cerevisiae,
                     alpha-1,3-mannosyltransferase);
                     alpha-1,3-mannosyltransferase ALG2; asparagine-linked
                     glycosylation protein 2 homolog;
                     GDP-Man:Man(2)GlcNAc(2)-PP-Dol
                     alpha-1,6-mannosyltransferase; asparagine-linked
                     glycosylation 2, alpha-1,3-mannosyltransferase homolog"
                     /codon_start=1
                     /product="alpha-1,3/1,6-mannosyltransferase ALG2"
                     /protein_id="NP_149078.1"
                     /db_xref="CCDS:CCDS6739.1"
                     /db_xref="GeneID:85365"
                     /db_xref="HGNC:HGNC:23159"
                     /db_xref="MIM:607905"
                     /translation="MAEEQGRERDSVPKPSVLFLHPDLGVGGAERLVLDAALALQARG
                     CSVKIWTAHYDPGHCFAESRELPVRCAGDWLPRGLGWGGRGAAVCAYVRMVFLALYVL
                     FLADEEFDVVVCDQVSACIPVFRLARRRKKILFYCHFPDLLLTKRDSFLKRLYRAPID
                     WIEEYTTGMADCILVNSQFTAAVFKETFKSLSHIDPDVLYPSLNVTSFDSVVPEKLDD
                     LVPKGKKFLLLSINRYERKKNLTLALEALVQLRGRLTSQDWERVHLIVAGGYDERVLE
                     NVEHYQELKKMVQQSDLGQYVTFLRSFSDKQKISLLHSCTCVLYTPSNEHFGIVPLEA
                     MYMQCPVIAVNSGGPLESIDHSVTGFLCEPDPVHFSEAIEKFIREPSLKATMGLAGRA
                     RVKEKFSPEAFTEQLYRYVTKLLV"
     exon            397..2808
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1369
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
                     /note="major polyA site"
     regulatory      1845..1850
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
                     /note="hexamer: AATAAA"
     polyA_site      1869
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
                     /note="major polyA site"
     regulatory      2764..2769
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
                     /note="hexamer: AATATA"
     regulatory      2786..2791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
                     /note="hexamer: ATTAAA"
     polyA_site      2792
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
     polyA_site      2808
                     /gene="ALG2"
                     /gene_synonym="CDG1I; CDGIi; CMS14; CMSTA3; hALPG2; NET38"
ORIGIN      
        1 gcagaagacc cccatcaggg tgcggggtgc agttgcggct ccagggccat ggcggaggag
       61 cagggccggg aacgggactc ggttcccaag ccgtcggtgc tgttcctcca cccagacctg
      121 ggcgtgggcg gcgctgagcg gctggtgttg gacgcggcgc tggcgctgca ggcgcgcggg
      181 tgtagcgtga agatctggac agcgcactac gacccgggcc actgtttcgc cgagagccgc
      241 gagctaccgg tgcgctgtgc cggggactgg ctgccgcgag gcctgggctg gggcggccgc
      301 ggcgccgccg tctgcgccta cgtgcgcatg gttttcctgg cgctctacgt gctgttcctc
      361 gccgacgagg agttcgacgt ggtagtgtgc gaccaggtgt ctgcctgtat cccagtgttc
      421 aggctggcta gacggcggaa gaagatccta ttttactgtc acttcccaga tctgcttctc
      481 accaagagag attcttttct taaacgacta tacagggccc caattgactg gatagaggaa
      541 tacaccacag gcatggcaga ctgcatctta gtcaacagcc agttcacagc tgctgttttt
      601 aaggaaacat tcaagtccct gtctcacata gaccctgatg tcctctatcc atctctaaat
      661 gtcaccagct ttgactcagt tgttcctgaa aagctggatg acctagtccc caaggggaaa
      721 aaattcctgc tgctctccat caacagatac gaaaggaaga aaaatctgac tttggcactg
      781 gaagccctag tacagctgcg tggaagattg acatcccaag attgggagag ggttcatctg
      841 atcgtggcag gtggttatga cgagagagtc ctggagaatg tggaacatta tcaggaattg
      901 aagaaaatgg tccaacagtc cgaccttggc cagtatgtga ccttcttgag gtctttctca
      961 gacaaacaga aaatctccct cctccacagc tgcacgtgtg tgctttacac accaagcaat
     1021 gagcactttg gcattgtccc tctggaagcc atgtacatgc agtgcccagt cattgctgtt
     1081 aattcgggtg gacccttgga gtccattgac cacagtgtca cagggtttct gtgtgagcct
     1141 gacccggtgc acttctcaga agcaatagaa aagttcatcc gtgaaccttc cttaaaagcc
     1201 accatgggcc tggctggaag agccagagtg aaggaaaaat tttcccctga agcatttaca
     1261 gaacagctct accgatatgt taccaaactg ctggtataat cagattgttt ttaagatctc
     1321 cattaatgtc atttttatgg attgtagacc cagttttgaa accaaaaaag aaacctagaa
     1381 tctaatgcag aagagatctt ttaaaaaata aacttgagtc ttgaatgtga gccactttcc
     1441 tatataccac acctccctgt ccacttttca gaaaaaccat gtcttttatg ctataatcat
     1501 tccaaatttt gccagtgtta agttacaaat gtggtgtcat tccatgttca gcagagtatt
     1561 ttaattatat tttctcggga ttattgctct tctgtctata aattttgaat gatactgtgc
     1621 cttaattggt tttcatagtt taagtgtgta tcattatcaa agttgattaa tttggcttca
     1681 tagtataatg agagcagggc tattgtagtt cccagattca atccaccgaa gtgttcactg
     1741 tcatctgtta gggaattttt gtttgtcctg tctttgcctg gatccatagc gagagtgctc
     1801 tgtatttttt ttaagataat ttgtattttt gcacactgag atataataaa aggtgtttat
     1861 cataaaaaag aaacagtatt agattttggt ctccataatc tattttggta ttgttacgaa
     1921 catggatatg acaaccaaac tggaaatcag aacactaggg taaagtggat attgaaatga
     1981 agcaagaata ttgtcacaca tgtgttgtgc atcttgttta gggtatattt cttaatgtca
     2041 tctaggtcat tagttttgtt aatatttgtg ttgtcttgac caagctccta ctaagtatag
     2101 gacacaaatg ttttttatct tccaaggcct ggctcaaatg ccactgctgc aaagctttct
     2161 ttgaccctct ggccacctcc caagccagaa gttatcttcc ccctccatgt actctagcct
     2221 tttcatgaca ctgatatttt cgtgacactg acttatagtt cactgtttac ctgttggtct
     2281 aacagcaaat cataaacagt agttttcaac atacttctaa ggctaaattc atttccagaa
     2341 gtagcaaagc ttactagcca aaggctccac atttatcaac tcttaagagc tagacttgag
     2401 agcctaacag cctatatgat tttgtgtaaa ttgatctcta tacctcagct tcttcatctg
     2461 caaagtgaga taattgtact attctacttt cctcatagtg cggttataac agattatgat
     2521 aatattacaa agtacttaat acttggcata tagtatatat attagctatt agtattttgc
     2581 aatttgggga tattgaaaat tagaaattgc atgttagttc atgctgcact accatattgt
     2641 tcttttgggg ctcttcaatg ggtgaaattc cattttacag tttatcatgt gcatctgtat
     2701 cacaggagta ttttggcaaa atgattctgt accaaaaagg agtactataa aatgagggtg
     2761 ccaaatatat tgagtctttt atgggattaa aagttctgtt gcattcca
//
