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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
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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)

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

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