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    ALG6 ALG6 alpha-1,3-glucosyltransferase [ Homo sapiens (human) ]

    Gene ID: 29929, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ALG6provided by HGNC
    Official Full Name
    ALG6 alpha-1,3-glucosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:23157
    See related
    Ensembl:ENSG00000088035 MIM:604566; AllianceGenome:HGNC:23157
    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
    CDG1C
    Summary
    This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 4.0), appendix (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ALG6 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (63367627..63438553)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (63243301..63314233)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (63833298..63904224)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene U7 small nuclear RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1125 Neighboring gene DnaJ heat shock protein family (Hsp40) member C7 pseudogene Neighboring gene integrin subunit beta 3 binding protein Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:63939727-63940644 Neighboring gene uncharacterized LOC102724319 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:63988295-63988918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1126 Neighboring gene RNA, 7SL, cytoplasmic 488, pseudogene Neighboring gene EF-hand calcium binding domain 7

    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. Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene. Goreta SS, et al. Genet Test Mol Biomarkers, 2012 Jan. PMID 21899441, Free PMC Article
    2. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. Burda P, et al. J Clin Invest, 1998 Aug 15. PMID 9710431, Free PMC Article
    3. Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase. Körner C, et al. Proc Natl Acad Sci U S A, 1998 Oct 27. PMID 9789065, Free PMC Article
    4. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic. Imbach T, et al. Hum Genet, 2000 May. PMID 10914684
    5. The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic. Vuillaumier-Barrot S, et al. J Hum Genet, 2001. PMID 11558905

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
      Title: Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
    2. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
      Title: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
    3. ALG6-CDG has been now described in 89 patients.
      Title: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
    4. Five novel base substitutions in the hALG6 gene were also found: three in exon 5 (c.383T>C, c.390G>A, and c.429G>C) and two in a downstream intervening sequence (IVS5+17C/T and IVS5+34G/A).
      Title: Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.
    5. Our findings extend the causes of CDG to larger DNA deletions and identify the first Japanese CDG-Ic mutation.
      Title: Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
    6. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
      Title: A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
    Submit: New GeneRIF Correction

    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

    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 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables glucosyltransferase 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dolichol-linked oligosaccharide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dolichol-linked oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein N-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
    Names
    Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase
    asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)
    asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)
    asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog
    asparagine-linked glycosylation protein 6 homolog
    dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase
    dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
    dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
    dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase
    NP_037471.2

    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_008925.2 RefSeqGene

      Range
      5038..75964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1260

    mRNA and Protein(s)

    1. NM_013339.4 → NP_037471.2  dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

      Status: REVIEWED

      Source sequence(s)
      AL592218, BC001253, BI819904
      Consensus CDS
      CCDS30735.1
      UniProtKB/Swiss-Prot
      B3KMU2, Q5SXR9, Q9H3I0, Q9Y672
      Related
      ENSP00000263440.5, ENST00000263440.6
      Conserved Domains (1) summary
      pfam03155
      Location:32 → 485
      Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      63367627..63438553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      63243301..63314233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y672.2 GenPept UniProtKB/Swiss-Prot:Q9Y672

    Gene LinkOut

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

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