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    ALG3 ALG3 alpha-1,3- mannosyltransferase [ Homo sapiens (human) ]

    Gene ID: 10195, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ALG3provided by HGNC
    Official Full Name
    ALG3 alpha-1,3- mannosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:23056
    See related
    Ensembl:ENSG00000214160 MIM:608750; AllianceGenome:HGNC:23056
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    not; CDG1D; CDGS4; CDGS6; Not56; NOT56L; D16Ertd36e
    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]
    Expression
    Ubiquitous expression in testis (RPKM 10.3), placenta (RPKM 9.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ALG3 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184242301..184249525, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (187051585..187058813, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183960089..183967313, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20904 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:183908066-183909265 Neighboring gene ATP binding cassette subfamily F member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14958 Neighboring gene von Willebrand factor A domain containing 5B2 Neighboring gene Sharpr-MPRA regulatory region 15257 Neighboring gene EEF1AKMT4-ECE2 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183965331-183966074 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183966075-183966818 Neighboring gene microRNA 1224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20907 Neighboring gene EEF1A lysine methyltransferase 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:183976879-183977065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183977445-183977995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183977996-183978547 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Comprehensive analysis of ALG3 in pan-cancer and validation of ALG3 as an onco-immunological biomarker in breast cancer. Xue X, et al. Aging (Albany NY), 2024 Feb 7. PMID 38329424, Free PMC Article
    2. Will an electric current replace the syringe for anesthesia? Jerrold LE. Dent Stud, 1975 Feb. PMID 1058125
    3. Carbohydrate-deficient glycoprotein syndrome--a fourth subtype. Stibler H, et al. Neuropediatrics, 1995 Oct. PMID 8552211
    4. Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. Denecke J, et al. Pediatr Res, 2005 Aug. PMID 16006436
    5. ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings. Riess S, et al. Mol Genet Metab, 2013 Sep-Oct. PMID 23791010

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.
      Title: Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.
    2. Comprehensive analysis of ALG3 in pan-cancer and validation of ALG3 as an onco-immunological biomarker in breast cancer.
      Title: Comprehensive analysis of ALG3 in pan-cancer and validation of ALG3 as an onco-immunological biomarker in breast cancer.
    3. CircPTK2 promotes cell viability, cell cycle process, and glycolysis and inhibits cell apoptosis in acute myeloid leukemia by regulating miR-582-3p/ALG3 axis.
      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.
    4. ALG3 Promotes Peritoneal Metastasis of Ovarian Cancer through Increasing Interaction of alpha1,3-mannosylated uPAR and ADAM8.
      Title: ALG3 Promotes Peritoneal Metastasis of Ovarian Cancer through Increasing Interaction of α1,3-mannosylated uPAR and ADAM8.
    5. Inhibition of ALG3 stimulates cancer cell immunogenic ferroptosis to potentiate immunotherapy.
      Title: Inhibition of ALG3 stimulates cancer cell immunogenic ferroptosis to potentiate immunotherapy.
    6. ALG3 Is a Potential Biomarker for the Prognosis of Bladder Cancer.
      Title: ALG3 Is a Potential Biomarker for the Prognosis of Bladder Cancer.
    7. ALG3 contributes to stemness and radioresistance through regulating glycosylation of TGF-beta receptor II in breast cancer.
      Title: ALG3 contributes to stemness and radioresistance through regulating glycosylation of TGF-β receptor II in breast cancer.
    8. ALG3 contributes to the malignant properties of OSCC cells by regulating CDK-Cyclin pathway.
      Title: ALG3 contributes to the malignant properties of OSCC cells by regulating CDK-Cyclin pathway.
    9. Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
      Title: Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
    10. ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
      Title: ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A mega-analysis of genome-wide association studies for major depressive disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-1,3-mannosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dolichol-linked oligosaccharide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dolichol-linked oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein N-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in lumenal side of endoplasmic reticulum membrane IC
    Inferred by Curator
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
    Names
    Not56-like protein
    asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)
    asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)
    asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog
    asparagine-linked glycosylation protein 3 homolog
    carbohydrate deficient glycoprotein syndrome type IV
    dol-P-Man-dependent alpha(1-3)-mannosyltransferase
    dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
    dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase
    NP_001006942.1
    NP_005778.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008924.2 RefSeqGene

      Range
      5551..12212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001006941.2 → NP_001006942.1  dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform d

      See identical proteins and their annotated locations for NP_001006942.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AK289361, AW297350, BX339649, CX761434
      Consensus CDS
      CCDS46967.1
      UniProtKB/TrEMBL
      C9J7S5
      Related
      ENSP00000402744.2, ENST00000445626.6
      Conserved Domains (1) summary
      pfam05208
      Location:19 → 358
      ALG3; ALG3 protein

    2. NM_005787.6 → NP_005778.1  dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform a

      See identical proteins and their annotated locations for NP_005778.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC061705, AW297350, BC002839, BC004313, BC021062, Y09022
      Consensus CDS
      CCDS46968.1
      UniProtKB/Swiss-Prot
      A8JZZ6, Q92685, Q9BT71
      UniProtKB/TrEMBL
      C9J7S5
      Related
      ENSP00000380793.3, ENST00000397676.8
      Conserved Domains (1) summary
      pfam05208
      Location:48 → 406
      ALG3; ALG3 protein

    RNA

    1. NR_024533.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an exon in the 5' coding region resulting in a frameshift and early stop codon, compared to variant 1. The predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AC061705, AK299575, AW297350, Y09022
      Related
      ENST00000411922.5

    2. NR_024534.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region resulting in a frameshift and early stop codon, compared to variant 1. The predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AW297350, BC004313, BM920198, Y09022

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      184242301..184249525 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      187051585..187058813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001006940.1: Suppressed sequence

      Description
      NM_001006940.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92685.1 GenPept UniProtKB/Swiss-Prot:Q92685

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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