LOCUS       NM_005787               1552 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens ALG3 alpha-1,3- mannosyltransferase (ALG3), transcript
            variant 1, mRNA.
ACCESSION   NM_005787
VERSION     NM_005787.6
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 1552)
  AUTHORS   Daniel,E.J.P., Edmondson,A.C., Argon,Y., Alsharhan,H., Lam,C.,
            Freeze,H.H. and He,M.
  TITLE     Deficient glycan extension and endoplasmic reticulum stresses in
            ALG3-CDG
  JOURNAL   J Inherit Metab Dis 47 (4), 766-777 (2024)
   PUBMED   38597022
  REMARK    GeneRIF: Deficient glycan extension and endoplasmic reticulum
            stresses in ALG3-CDG.
REFERENCE   2  (bases 1 to 1552)
  AUTHORS   Xue,X., Feng,Q., Hong,X., Lin,Z., Luo,Y., Li,Y., Yao,G., Wang,N.
            and Chen,L.
  TITLE     Comprehensive analysis of ALG3 in pan-cancer and validation of ALG3
            as an onco-immunological biomarker in breast cancer
  JOURNAL   Aging (Albany NY) 16 (3), 2320-2339 (2024)
   PUBMED   38329424
  REMARK    GeneRIF: Comprehensive analysis of ALG3 in pan-cancer and
            validation of ALG3 as an onco-immunological biomarker in breast
            cancer.
REFERENCE   3  (bases 1 to 1552)
  AUTHORS   Shang,Z., Ming,X., Wu,J., Liu,W. and Xiao,Y.
  TITLE     CircPTK2 promotes cell viability, cell cycle process, and
            glycolysis and inhibits cell apoptosis in acute myeloid leukemia by
            regulating miR-582-3p/ALG3 axis
  JOURNAL   Expert Rev Hematol 15 (12), 1073-1083 (2022)
   PUBMED   35980117
  REMARK    GeneRIF: CircPTK2 promotes cell viability, cell cycle process, and
            glycolysis and inhibits cell apoptosis in acute myeloid leukemia by
            regulating miR-582-3p/ALG3 axis.
REFERENCE   4  (bases 1 to 1552)
  AUTHORS   Cui,X., Pei,X., Wang,H., Feng,P., Qin,H., Liu,S., Yan,Q. and Liu,J.
  TITLE     ALG3 Promotes Peritoneal Metastasis of Ovarian Cancer through
            Increasing Interaction of alpha1,3-mannosylated uPAR and ADAM8
  JOURNAL   Cells 11 (19), 3141 (2022)
   PUBMED   36231102
  REMARK    GeneRIF: ALG3 Promotes Peritoneal Metastasis of Ovarian Cancer
            through Increasing Interaction of alpha1,3-mannosylated uPAR and
            ADAM8.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1552)
  AUTHORS   Liu,P., Lin,C., Liu,Z., Zhu,C., Lin,Z., Xu,D., Chen,J., Huang,Q.,
            Li,C.Y., Hou,L., Pan,J.A. and Liu,X.
  TITLE     Inhibition of ALG3 stimulates cancer cell immunogenic ferroptosis
            to potentiate immunotherapy
  JOURNAL   Cell Mol Life Sci 79 (7), 352 (2022)
   PUBMED   35676564
  REMARK    GeneRIF: Inhibition of ALG3 stimulates cancer cell immunogenic
            ferroptosis to potentiate immunotherapy.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1552)
  AUTHORS   Denecke,J., Kranz,C., Kemming,D., Koch,H.G. and Marquardt,T.
  TITLE     An activated 5' cryptic splice site in the human ALG3 gene
            generates a premature termination codon insensitive to
            nonsense-mediated mRNA decay in a new case of congenital disorder
            of glycosylation type Id (CDG-Id)
  JOURNAL   Hum Mutat 23 (5), 477-486 (2004)
   PUBMED   15108280
REFERENCE   7  (bases 1 to 1552)
  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 1552)
  AUTHORS   Korner,C., Knauer,R., Stephani,U., Marquardt,T., Lehle,L. and von
            Figura,K.
  TITLE     Carbohydrate deficient glycoprotein syndrome type IV: deficiency of
            dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
  JOURNAL   EMBO J 18 (23), 6816-6822 (1999)
   PUBMED   10581255
REFERENCE   9  (bases 1 to 1552)
  AUTHORS   Stibler,H., Stephani,U. and Kutsch,U.
  TITLE     Carbohydrate-deficient glycoprotein syndrome--a fourth subtype
  JOURNAL   Neuropediatrics 26 (5), 235-237 (1995)
   PUBMED   8552211
REFERENCE   10 (bases 1 to 1552)
  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 Y09022.1, BC021062.1,
            BC002839.2, BC004313.1, AW297350.1 and AC061705.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005787.5.
            
            Summary: This gene encodes a member of the ALG3 family. The encoded
            protein catalyses the addition of the first dol-P-Man derived
            mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in
            this gene have been associated with congenital disorder of
            glycosylation type Id (CDG-Id) characterized by abnormal
            N-glycosylation. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Nov
            2008].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: KP189284.1, BC004313.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397676.8/ ENSP00000380793.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-612               Y09022.1           10-621
            613-1388            BC021062.1         586-1361
            1389-1428           BC002839.2         1373-1412
            1429-1515           BC004313.1         1393-1479
            1516-1524           AW297350.1         18-26               c
            1525-1552           AC061705.16        18308-18335
FEATURES             Location/Qualifiers
     source          1..1552
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     gene            1..1552
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /note="ALG3 alpha-1,3- mannosyltransferase"
                     /db_xref="GeneID:10195"
                     /db_xref="HGNC:HGNC:23056"
                     /db_xref="MIM:608750"
     exon            1..218
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..1339
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /EC_number="2.4.1.258"
                     /note="isoform a is encoded by transcript variant 1;
                     asparagine-linked glycosylation 3 homolog (yeast,
                     alpha-1,3-mannosyltransferase); carbohydrate deficient
                     glycoprotein syndrome type IV; asparagine-linked
                     glycosylation 3 homolog (S. cerevisiae,
                     alpha-1,3-mannosyltransferase);
                     dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl
                     mannosyltransferase; Not56-like protein; asparagine-linked
                     glycosylation protein 3 homolog;
                     dolichyl-phosphate-mannose--glycolipid
                     alpha-mannosyltransferase;
                     dol-P-Man:Man(5)GlcNAc(2)-PP-Dol
                     alpha-1,3-mannosyltransferase; asparagine-linked
                     glycosylation 3, alpha-1,3- mannosyltransferase homolog;
                     dol-P-Man-dependent alpha(1-3)-mannosyltransferase"
                     /codon_start=1
                     /product="dol-P-Man:Man(5)GlcNAc(2)-PP-Dol
                     alpha-1,3-mannosyltransferase isoform a"
                     /protein_id="NP_005778.1"
                     /db_xref="CCDS:CCDS46968.1"
                     /db_xref="GeneID:10195"
                     /db_xref="HGNC:HGNC:23056"
                     /db_xref="MIM:608750"
                     /translation="MAAGLRKRGRSGSAAQAEGLCKQWLQRAWQERRLLLREPRYTLL
                     VAACLCLAEVGITFWVIHRVAYTEIDWKAYMAEVEGVINGTYDYTQLQGDTGPLVYPA
                     GFVYIFMGLYYATSRGTDIRMAQNIFAVLYLATLLLVFLIYHQTCKVPPFVFFFMCCA
                     SYRVHSIFVLRLFNDPVAMVLLFLSINLLLAQRWGWGCCFFSLAVSVKMNVLLFAPGL
                     LFLLLTQFGFRGALPKLGICAGLQVVLGLPFLLENPSGYLSRSFDLGRQFLFHWTVNW
                     RFLPEALFLHRAFHLALLTAHLTLLLLFALCRWHRTGESILSLLRDPSKRKVPPQPLT
                     PNQIVSTLFTSNFIGICFSRSLHYQFYVWYFHTLPYLLWAMPARWLTHLLRLLVLGLI
                     ELSWNTYPSTSCSSAALHICHAVILLQLWLGPQPFPKSTQHSKKAH"
     exon            219..318
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /inference="alignment:Splign:2.1.0"
     exon            319..466
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /inference="alignment:Splign:2.1.0"
     exon            467..627
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /inference="alignment:Splign:2.1.0"
     exon            628..748
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /inference="alignment:Splign:2.1.0"
     exon            749..954
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1031
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1176
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1552
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1410..1415
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /note="hexamer: AATAAA"
     polyA_site      1430
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /note="major polyA site"
     regulatory      1502..1507
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /note="hexamer: GATAAA"
     polyA_site      1522
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
ORIGIN      
        1 acacaagcgg cgcaccgtta agatggcggc tgggctgcgg aaacgcggcc ggtccggttc
       61 cgcggcccag gcagagggac tctgcaagca atggctgcag cgcgcctggc aagagcggcg
      121 cctgctgctg cgggagccgc gctacacgct gctggtggcc gcctgcctct gcctggcgga
      181 ggtgggcatc accttctggg tcattcacag ggtggcatac acagagattg actggaaggc
      241 ctacatggcc gaggtagaag gcgtcatcaa tggtacctat gactataccc aactgcaggg
      301 tgacaccgga ccacttgtgt acccagctgg tttcgtgtac atctttatgg ggttgtacta
      361 tgccaccagc cgaggcactg acatccgcat ggcccagaac atctttgctg tgctctacct
      421 ggctaccttg ctgcttgtct tcttgatcta tcaccagacc tgcaaggtac ctcccttcgt
      481 ctttttcttc atgtgctgcg cctcttaccg tgtccactcc atctttgtgc tgcggctctt
      541 caatgaccca gtggccatgg tgctgctctt cctcagtatc aacctcctgc tggcccagcg
      601 ctggggctgg ggttgctgct ttttcagcct ggcagtctct gtgaagatga atgtgctgct
      661 cttcgcccct gggttactgt ttcttctcct cacacagttt ggcttccgtg gggccctccc
      721 caagctggga atctgtgctg gccttcaggt ggtgctgggg ctgcccttcc tgctggagaa
      781 ccccagcggc tacctgtccc gctcctttga ccttggccgc cagtttctgt tccactggac
      841 agtgaactgg cgcttcctcc cagaggcgct cttcctgcat cgagccttcc acctggccct
      901 gttgactgcc cacctcaccc tgctcctgct gtttgccctc tgcaggtggc acaggacagg
      961 ggaaagtatc ttgtcgctgc tgagggatcc ctccaaaagg aaggttccac cccagcccct
     1021 tacacccaac cagatcgttt ctaccctctt cacctccaac ttcattggca tctgcttcag
     1081 ccgctccctc cactaccagt tctacgtctg gtatttccac acactgccct acctcctgtg
     1141 ggccatgcct gcacgctggc tcacacacct gctcaggttg ttggtgctgg ggctcatcga
     1201 gctctcctgg aacacatacc cttccacatc ctgcagctct gctgccctgc acatatgcca
     1261 tgccgtcatc ctgctgcagc tctggctggg cccgcagcct ttccccaaga gcacccaaca
     1321 cagcaagaaa gcccactgaa gtccacccct ttccctcagg acctgagtct accctcagga
     1381 cctggggttg gttggactct gcccttccaa ataaaccttg ctaagtccaa ctctgtgcaa
     1441 cctacatgga ggtgggggca gccgatgcct ggtccaggct gtgagggaca cgtatggagc
     1501 agataaagaa ttcactcaag cagtcctaag aggcacttta ttgcatagga tt
//
