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    ALG8 ALG8 alpha-1,3-glucosyltransferase [ Homo sapiens (human) ]

    Gene ID: 79053, updated on 2-May-2024

    Summary

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    Official Symbol
    ALG8provided by HGNC
    Official Full Name
    ALG8 alpha-1,3-glucosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:23161
    See related
    Ensembl:ENSG00000159063 MIM:608103; AllianceGenome:HGNC:23161
    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
    CDG1H; PCLD3
    Summary
    This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 16.1), adrenal (RPKM 9.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q14.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (78100946..78139626, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (78034182..78072901, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77811992..77850672, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NDUFC2-KCTD14 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5313 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:77790891-77791080 Neighboring gene uncharacterized LOC105369401 Neighboring gene NADH:ubiquinone oxidoreductase subunit C2 Neighboring gene thyroid hormone responsive Neighboring gene Sharpr-MPRA regulatory region 11448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77840054-77840872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5316 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77851405-77852115 Neighboring gene RNA, U6 small nuclear 126, pseudogene Neighboring gene KCTD21 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77884885-77885386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77890493-77890992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3809 Neighboring gene potassium channel tetramerization domain containing 21 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77921405-77922031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5318 Neighboring gene ubiquitin specific peptidase 35 Neighboring gene GRB2 associated binding protein 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
    • 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. Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease. Apple B, et al. Kidney Int, 2023 Mar. PMID 36574950, Free PMC Article
    2. ALG8 Fuels Stemness Through Glycosylation of the WNT/Beta-Catenin Signaling Pathway in Colon Cancer. Wu X, et al. DNA Cell Biol, 2022 Dec. PMID 36454274
    3. Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient. Vuillaumier-Barrot S, et al. Pediatr Res, 2019 Feb. PMID 30420707
    4. ALG8-CDG: novel patients and review of the literature. Höck M, et al. Orphanet J Rare Dis, 2015 Jun 12. PMID 26066342, Free PMC Article
    5. Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. Kouwenberg D, et al. Pediatr Dermatol, 2014 Jan-Feb. PMID 24555185

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.
      Title: Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.
    2. ALG8 Fuels Stemness Through Glycosylation of the WNT/Beta-Catenin Signaling Pathway in Colon Cancer.
      Title: ALG8 Fuels Stemness Through Glycosylation of the WNT/Beta-Catenin Signaling Pathway in Colon Cancer.
    3. analysis of genetic variants in ALG8 in patients with congenital disorders of glycosylation
      Title: Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
    4. used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum.
      Title: Isolated polycystic liver disease genes define effectors of polycystin-1 function.
    5. In ALG8-CDG, isoelectric focusing of transferrin in serum or plasma shows an abnormal sialotransferrin pattern. The diagnosis is confirmed by mutation analysis in ALG8; all patients reported so far had point mutations or small deletions
      Title: ALG8-CDG: novel patients and review of the literature.
    6. We reviewed the clinical features in all nine previously reported patients diagnosed with ALG8-disorder of glycosylation with a special focus on their skin signs.
      Title: Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.
    7. Severe ALG8 congenital disorder of glycosylation(CDG-Ih) is associated with homozygosity for two novel missense mutations in exon 8 of ALG8
      Title: Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
      Title: Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
    10. ALG8 splice site mutations and missense mutations causing ALG8 deficiency in patients with congenital disorders of glycosylation type Ih.
      Title: Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 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

    Clone Names

    • MGC2840

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dolichyl pyrophosphate Glc1Man9GlcNAc2 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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 oligosaccharide-lipid intermediate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein N-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation via asparagine ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum membrane IGI
    Inferred from Genetic Interaction
    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
    probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
    Names
    HUSSY-02
    asparagine-linked glycosylation 8 alpha-13-glucosyltransferase-like protein
    asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)
    asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)
    asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog
    asparagine-linked glycosylation protein 8 homolog
    dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase
    dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
    dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
    dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase
    dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase
    NP_001007028.1
    NP_076984.2
    XP_005274304.1
    XP_047283534.1
    XP_054225896.1
    XP_054225897.1

    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_008926.1 RefSeqGene

      Range
      5028..43708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001007027.3 → NP_001007028.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform b

      See identical proteins and their annotated locations for NP_001007028.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional segment in the coding region compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AA375954, AK098614
      Consensus CDS
      CCDS41692.1
      UniProtKB/TrEMBL
      A0A7P0T8Q8
      Related
      ENSP00000365326.3, ENST00000376156.7
      Conserved Domains (1) summary
      pfam03155
      Location:22 → 455
      Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

    2. NM_001425219.1 → NP_001412148.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP002520
      UniProtKB/TrEMBL
      A0A7P0Z449

    3. NM_001425220.1 → NP_001412149.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP002520

    4. NM_001425221.1 → NP_001412150.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP002520

    5. NM_001425222.1 → NP_001412151.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP002520

    6. NM_001425223.1 → NP_001412152.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP002520

    7. NM_001425224.1 → NP_001412153.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 8

      Status: REVIEWED

      Source sequence(s)
      AP002520

    8. NM_001425225.1 → NP_001412154.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 9

      Status: REVIEWED

      Source sequence(s)
      AP002520
      UniProtKB/TrEMBL
      H0YDD3

    9. NM_001425226.1 → NP_001412155.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 10

      Status: REVIEWED

      Source sequence(s)
      AP002520

    10. NM_001425227.1 → NP_001412156.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 11

      Status: REVIEWED

      Source sequence(s)
      AP002520

    11. NM_001425228.1 → NP_001412157.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 12

      Status: REVIEWED

      Source sequence(s)
      AP002520
      UniProtKB/TrEMBL
      H0YD42

    12. NM_001425229.1 → NP_001412158.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 13

      Status: REVIEWED

      Source sequence(s)
      AP002520
      UniProtKB/TrEMBL
      A0A804G6E3

    13. NM_001425230.1 → NP_001412159.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 14

      Status: REVIEWED

      Source sequence(s)
      AP002520

    14. NM_001425231.1 → NP_001412160.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 15

      Status: REVIEWED

      Source sequence(s)
      AP002520
      UniProtKB/TrEMBL
      H0YCV0

    15. NM_001425232.1 → NP_001412161.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 16

      Status: REVIEWED

      Source sequence(s)
      AP002520

    16. NM_001425233.1 → NP_001412162.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 17

      Status: REVIEWED

      Source sequence(s)
      AP002520
      UniProtKB/TrEMBL
      H0YEE0

    17. NM_001425234.1 → NP_001412163.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 18

      Status: REVIEWED

      Source sequence(s)
      AP002520
      UniProtKB/TrEMBL
      E9PLP7, E9PP04, E9PR58, H0YDQ1

    18. NM_001425235.1 → NP_001412164.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 19

      Status: REVIEWED

      Source sequence(s)
      AP002520

    19. NM_001425236.1 → NP_001412165.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 20

      Status: REVIEWED

      Source sequence(s)
      AP002520

    20. NM_001425237.1 → NP_001412166.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 21

      Status: REVIEWED

      Source sequence(s)
      AP002520
      UniProtKB/TrEMBL
      A0A7P0TA89

    21. NM_001425238.1 → NP_001412167.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 22

      Status: REVIEWED

      Source sequence(s)
      AP002520

    22. NM_001425239.1 → NP_001412168.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

      Status: REVIEWED

      Source sequence(s)
      AP002520
      UniProtKB/TrEMBL
      A0A7P0TAA8

    23. NM_001425240.1 → NP_001412169.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

      Status: REVIEWED

      Source sequence(s)
      AP002520

    24. NM_001425241.1 → NP_001412170.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

      Status: REVIEWED

      Source sequence(s)
      AP002520

    25. NM_001425242.1 → NP_001412171.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

      Status: REVIEWED

      Source sequence(s)
      AP002520

    26. NM_001425243.1 → NP_001412172.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

      Status: REVIEWED

      Source sequence(s)
      AP002520

    27. NM_024079.5 → NP_076984.2  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform a

      See identical proteins and their annotated locations for NP_076984.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript, but encodes the longer isoform (a).
      Source sequence(s)
      AK098614, DB362104
      Consensus CDS
      CCDS8258.1
      UniProtKB/Swiss-Prot
      A6NDW6, O60860, Q9BVK2
      UniProtKB/TrEMBL
      A0A024R5K5, B3KQL8
      Related
      ENSP00000299626.5, ENST00000299626.10
      Conserved Domains (1) summary
      pfam03155
      Location:22 → 508
      Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

    RNA

    1. NR_189148.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP002520

    2. NR_189149.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP002520

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      78100946..78139626 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274247.4 → XP_005274304.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X1

      See identical proteins and their annotated locations for XP_005274304.1

      UniProtKB/TrEMBL
      B3KQL8
      Related
      ENSP00000437033.2, ENST00000530910.6
      Conserved Domains (1) summary
      pfam03155
      Location:26 → 499
      Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

    2. XM_047427578.1 → XP_047283534.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X2

      Related
      ENSP00000506408.1, ENST00000680829.1

    RNA

    1. XR_950044.4 RNA Sequence

      Related
      ENST00000680866.1

    2. XR_007062497.1 RNA Sequence

      Related
      ENST00000681957.1

    3. XR_001747956.2 RNA Sequence

      Related
      ENST00000681351.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      78034182..78072901 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369921.1 → XP_054225896.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X1

    2. XM_054369922.1 → XP_054225897.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X2

    RNA

    1. XR_008488429.1 RNA Sequence

    2. XR_008488430.1 RNA Sequence

    3. XR_008488431.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001007028.1: Suppressed sequence

      Description
      NM_001007028.1: This RefSeq was permanently suppressed because the CDS incorrectly begins at an internal methionine. Correcting the CDS results in a truncated protein of 31 aa.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVK2.2 GenPept UniProtKB/Swiss-Prot:Q9BVK2

    Gene LinkOut

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

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