LOCUS       NP_005778                438 aa            linear   PRI 11-OCT-2024
DEFINITION  dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
            isoform a [Homo sapiens].
ACCESSION   NP_005778
VERSION     NP_005778.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 438)
  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  (residues 1 to 438)
  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  (residues 1 to 438)
  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  (residues 1 to 438)
  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  (residues 1 to 438)
  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  (residues 1 to 438)
  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  (residues 1 to 438)
  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  (residues 1 to 438)
  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  (residues 1 to 438)
  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 (residues 1 to 438)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..438
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     Protein         1..438
                     /product="dol-P-Man:Man(5)GlcNAc(2)-PP-Dol
                     alpha-1,3-mannosyltransferase isoform a"
                     /EC_number="2.4.1.258"
                     /note="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"
                     /calculated_mol_wt=49996
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q92685.1)"
     Site            41..61
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Region          49..406
                     /region_name="ALG3"
                     /note="ALG3 protein; pfam05208"
                     /db_xref="CDD:461587"
     Site            95..115
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            123..143
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            149..169
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            172..192
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            203..223
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            231..251
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            289..309
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            332..352
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            356..376
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     Site            407..427
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92685.1)"
     CDS             1..438
                     /gene="ALG3"
                     /gene_synonym="CDG1D; CDGS4; CDGS6; D16Ertd36e; not;
                     Not56; NOT56L"
                     /coded_by="NM_005787.6:23..1339"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS46968.1"
                     /db_xref="GeneID:10195"
                     /db_xref="HGNC:HGNC:23056"
                     /db_xref="MIM:608750"
ORIGIN      
        1 maaglrkrgr sgsaaqaegl ckqwlqrawq errlllrepr ytllvaaclc laevgitfwv
       61 ihrvayteid wkaymaeveg vingtydytq lqgdtgplvy pagfvyifmg lyyatsrgtd
      121 irmaqnifav lylatlllvf liyhqtckvp pfvfffmcca syrvhsifvl rlfndpvamv
      181 llflsinlll aqrwgwgccf fslavsvkmn vllfapgllf llltqfgfrg alpklgicag
      241 lqvvlglpfl lenpsgylsr sfdlgrqflf hwtvnwrflp ealflhrafh lalltahltl
      301 lllfalcrwh rtgesilsll rdpskrkvpp qpltpnqivs tlftsnfigi cfsrslhyqf
      361 yvwyfhtlpy llwamparwl thllrllvlg lielswntyp stscssaalh ichavillql
      421 wlgpqpfpks tqhskkah
//
