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

Gene ID: 79053, updated on 8-Jul-2021

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
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
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Genomic context

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See ALG8 in Genome Data Viewer
Location:
11q14.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (78100946..78139643, complement)
105.20201022 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 uncharacterized LOC105369401 Neighboring gene NADH:ubiquinone oxidoreductase subunit C2 Neighboring gene thyroid hormone responsive Neighboring gene RNA, U6 small nuclear 126, pseudogene Neighboring gene KCTD21 antisense RNA 1 Neighboring gene potassium channel tetramerization domain containing 21 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. 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
  2. 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
  3. 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
  4. Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. Sorte H, et al. Eur J Med Genet, 2012 Mar. PMID 22306853
  5. Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. Stölting T, et al. Mol Genet Metab, 2009 Nov. PMID 19648040

See all (33) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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 alpha-1,3-mannosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
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 TAS
Traceable Author Statement
more info
  
involved_in mannosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in oligosaccharide-lipid intermediate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
  

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_011543554.1
XP_016873763.1

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/Swiss-Prot
    Q9BVK2
    Related
    ENSP00000365326.3, ENST00000376156.7
    Conserved Domains (1) summary
    pfam03155
    Location:22 → 455
    Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

  2. 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
    Q9BVK2
    UniProtKB/TrEMBL
    A0A024R5K5
    Related
    ENSP00000299626.5, ENST00000299626.10
    Conserved Domains (1) summary
    pfam03155
    Location:22 → 508
    Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    78100946..78139643 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545252.2 → XP_011543554.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X3

    Related
    ENSP00000506421.1, ENST00000680761.1
    Conserved Domains (1) summary
    pfam03155
    Location:1 → 420
    Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

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

    See identical proteins and their annotated locations for XP_005274304.1

    Conserved Domains (1) summary
    pfam03155
    Location:26 → 499
    Alg6_Alg8; ALG6, ALG8 glycosyltransferase family

  3. XM_017018274.1 → XP_016873763.1  probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform X2

    Related
    ENSP00000506408.1, ENST00000680829.1

RNA

  1. XR_950044.3 RNA Sequence

    Related
    ENST00000679697.1

  2. XR_950045.3 RNA Sequence

    Related
    ENST00000679648.1

  3. XR_428923.4 RNA Sequence

    Related
    ENST00000680866.1

  4. XR_001747956.1 RNA Sequence

    Related
    ENST00000681351.1

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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