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Aliases for ALG8 Gene

Aliases for ALG8 Gene

  • ALG8, Alpha-1,3-Glucosyltransferase 2 3 5
  • Dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-Dolichol Alpha- 1->3-Glucosyltransferase 2 3
  • Asparagine-Linked Glycosylation 8 Homolog (Yeast, Alpha-1,3-Glucosyltransferase) 2 3
  • Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-Dolichyl Alpha-1,3-Glucosyltransferase 3 4
  • Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-Dolichyl Glucosyltransferase 3 4
  • Asparagine-Linked Glycosylation Protein 8 Homolog 3 4
  • Asparagine-Linked Glycosylation 8, Alpha-1,3-Glucosyltransferase Homolog (S. Cerevisiae) 2
  • Asparagine-Linked Glycosylation 8 Homolog (S. Cerevisiae, Alpha-1,3-Glucosyltransferase) 3
  • Probable Dolichyl Pyrophosphate Glc1Man9GlcNAc2 Alpha-1,3-Glucosyltransferase 3
  • Dolichyl-P-Glucose:Glc1Man9GlcNAc2-PP-Dolichyl-Alpha-1,3-Glucosyltransferase 3
  • Asparagine-Linked Glycosylation 8 Alpha-13-Glucosyltransferase-Like Protein 3
  • Asparagine-Linked Glycosylation 8, Alpha-1,3-Glucosyltransferase Homolog 3
  • Dolichyl Pyrophosphate Glc1Man9GlcNAc2 Alpha-1,3-Glucosyltransferase 3
  • EC 4
  • HUSSY-02 3
  • EC 2.4.1 58
  • CDG1H 3

External Ids for ALG8 Gene

Previous GeneCards Identifiers for ALG8 Gene

  • GC11M077538
  • GC11M077489
  • GC11M077811
  • GC11M074110

Summaries for ALG8 Gene

Entrez Gene Summary for ALG8 Gene

  • 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]

GeneCards Summary for ALG8 Gene

ALG8 (ALG8, Alpha-1,3-Glucosyltransferase) is a Protein Coding gene. Diseases associated with ALG8 include Congenital Disorder Of Glycosylation, Type Ih and Polycystic Liver Disease. Among its related pathways are N-Glycan biosynthesis and Transport to the Golgi and subsequent modification. GO annotations related to this gene include transferase activity, transferring hexosyl groups and dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity.

UniProtKB/Swiss-Prot for ALG8 Gene

  • Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol (By similarity).

Gene Wiki entry for ALG8 Gene

Additional gene information for ALG8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG8 Gene

Genomics for ALG8 Gene

Regulatory Elements for ALG8 Gene

Enhancers for ALG8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H078185 2 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -48.2 -48216 5.4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B RPL21P95 LOC101928865 INTS4 ENSG00000255449 KCTD21-AS1 ALG8 USP35 RSF1 PIR40351
GH11H078166 1 ENCODE dbSUPER 12.7 -27.5 -27505 1.3 ZNF639 LEF1 CAVIN1 L3MBTL2 HINFP NR4A1 TAL1 ZBTB11 E2F5 ZNF592 KCTD21-AS1 ALG8 KCTD21 USP35 NDUFC2 THRSP PIR40351 GC11M078165
GH11H078036 1.7 FANTOM5 Ensembl ENCODE 6.8 +100.3 100335 5.6 HDGF FOXA2 MLX ARNT ARID4B YBX1 ZNF2 YY1 ZNF302 ZNF548 INTS4 LOC101928865 RPL21P95 ENSG00000255449 KCTD21-AS1 NDUFC2 ALG8 KCTD14 ENSG00000254675
GH11H078179 1 ENCODE dbSUPER 11.5 -40.2 -40210 0.2 ELF3 HDGF FOXA2 MAX CEBPG THRB RAD21 ZKSCAN1 TEAD3 FOSL1 ALG8 KCTD21-AS1 PIR40351 USP35
GH11H078163 0.8 ENCODE dbSUPER 12.7 -24.7 -24652 1.3 JUND MAX HNF4A RAD21 ZKSCAN1 KCTD21-AS1 ALG8 KCTD21 USP35 GC11M078165 PIR47143 GC11P078155
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALG8 on UCSC Golden Path with GeneCards custom track

Promoters for ALG8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000042535 -240 1801 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF143 ZNF207

Genomic Locations for ALG8 Gene

Genomic Locations for ALG8 Gene
38,725 bases
Minus strand

Genomic View for ALG8 Gene

Genes around ALG8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG8 Gene

Proteins for ALG8 Gene

  • Protein details for ALG8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
    Protein Accession:
    Secondary Accessions:
    • A6NDW6
    • O60860

    Protein attributes for ALG8 Gene

    526 amino acids
    Molecular mass:
    60088 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAA12176.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALG8 Gene


neXtProt entry for ALG8 Gene

Selected DME Specific Peptides for ALG8 Gene


Post-translational modifications for ALG8 Gene

  • Ubiquitination at posLast=304304
  • Modification sites at PhosphoSitePlus

Domains & Families for ALG8 Gene

Gene Families for ALG8 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for ALG8 Gene

Suggested Antigen Peptide Sequences for ALG8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ALG6/ALG8 glucosyltransferase family.
  • Belongs to the ALG6/ALG8 glucosyltransferase family.
genes like me logo Genes that share domains with ALG8: view

Function for ALG8 Gene

Molecular function for ALG8 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Dolichyl beta-D-glucosyl phosphate + D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
UniProtKB/Swiss-Prot Function:
Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol (By similarity).

Enzyme Numbers (IUBMB) for ALG8 Gene

Gene Ontology (GO) - Molecular Function for ALG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000033 alpha-1,3-mannosyltransferase activity IMP 12480927
GO:0004583 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity TAS --
GO:0005515 protein binding IPI 25910212
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ALG8: view
genes like me logo Genes that share phenotypes with ALG8: view

Human Phenotype Ontology for ALG8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ALG8 Gene

Localization for ALG8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG8 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALG8 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IBA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALG8: view

Pathways & Interactions for ALG8 Gene

genes like me logo Genes that share pathways with ALG8: view

UniProtKB/Swiss-Prot Q9BVK2-ALG8_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ALG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IMP 12480927
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006490 oligosaccharide-lipid intermediate biosynthetic process IBA --
GO:0097502 mannosylation IEA --
genes like me logo Genes that share ontologies with ALG8: view

No data available for SIGNOR curated interactions for ALG8 Gene

Drugs & Compounds for ALG8 Gene

(2) Additional Compounds for ALG8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
Dolichyl b-D-glucosyl phosphate
  • Dolichol monophosphate glucose
  • Dolichyl b-D-glucosyl phosphate
  • Dolichyl b-delta-glucosyl phosphate
  • Dolichyl beta-D-glucosyl phosphate
  • Dolichyl beta-delta-glucosyl phosphate
genes like me logo Genes that share compounds with ALG8: view

Transcripts for ALG8 Gene

Unigene Clusters for ALG8 Gene

ALG8, alpha-1,3-glucosyltransferase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALG8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - -
SP7: - - -
SP8: - -
SP9: - - -
SP10: - -

ExUns: 14b ^ 15 ^ 16 ^ 17
SP2: -
SP6: -

Relevant External Links for ALG8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALG8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALG8 Gene

Protein differential expression in normal tissues from HIPED for ALG8 Gene

This gene is overexpressed in Nasal epithelium (47.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALG8 Gene

Protein tissue co-expression partners for ALG8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALG8 Gene:


SOURCE GeneReport for Unigene cluster for ALG8 Gene:


Evidence on tissue expression from TISSUES for ALG8 Gene

  • Skin(4.2)
  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • lymphatic
  • nervous
  • urinary
Head and neck:
  • eye
  • head
  • kidney
  • liver
  • lymph node
  • lymph vessel
genes like me logo Genes that share expression patterns with ALG8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ALG8 Gene

Orthologs for ALG8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALG8 33 34
  • 99.56 (n)
(Canis familiaris)
Mammalia ALG8 33 34
  • 91.89 (n)
(Bos Taurus)
Mammalia ALG8 33 34
  • 91.13 (n)
(Mus musculus)
Mammalia Alg8 33 16 34
  • 86.88 (n)
(Rattus norvegicus)
Mammalia Alg8 33
  • 85.04 (n)
(Monodelphis domestica)
Mammalia ALG8 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia ALG8 34
  • 71 (a)
(Gallus gallus)
Aves ALG8 33 34
  • 74.24 (n)
(Anolis carolinensis)
Reptilia ALG8 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia alg8 33
  • 68.85 (n)
Str.7088 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7675 33
(Danio rerio)
Actinopterygii alg8 33 34
  • 67.18 (n)
wufi19e09 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003928 33
  • 54.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4542 33 34
  • 53.35 (n)
(Caenorhabditis elegans)
Secernentea C08H9.3 34
  • 24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG8 33 34 36
  • 51.44 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16621g 33
  • 51.41 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR210C 33
  • 46.77 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G44660 33
  • 51.46 (n)
(Oryza sativa)
Liliopsida Os02g0688500 33
  • 48.49 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg8 33
  • 52.16 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00163 33
  • 51.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4086 33
Species where no ortholog for ALG8 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALG8 Gene

Gene Tree for ALG8 (if available)
Gene Tree for ALG8 (if available)

Paralogs for ALG8 Gene

No data available for Paralogs for ALG8 Gene

Variants for ALG8 Gene

Sequence variations from dbSNP and Humsavar for ALG8 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121908293 Pathogenic, Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104] 78,127,393(-) CTATC(A/C/T)CTCAC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs121908294 Pathogenic, Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104] 78,112,724(-) GAGGG(A/G)CCTCT nc-transcript-variant, reference, missense
rs200888240 Pathogenic 78,127,411(+) GTTTC(A/C/G)GTGTA nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs376161880 Pathogenic 78,106,895(+) ACATC(A/G)GAGAA intron-variant, nc-transcript-variant, reference, stop-gained
rs387906277 Pathogenic 78,121,130(-) ACTTA(-/C)AGAAA nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for ALG8 Gene

Variant ID Type Subtype PubMed ID
nsv520740 CNV gain 19592680
nsv1145552 CNV deletion 24896259
nsv1144579 CNV deletion 24896259
nsv1134157 CNV deletion 24896259
nsv1047928 CNV gain 25217958
esv3626894 CNV loss 21293372
esv3409932 CNV insertion 20981092

Variation tolerance for ALG8 Gene

Residual Variation Intolerance Score: 85.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.38; 71.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALG8 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG8 Gene

Disorders for ALG8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ALG8 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ih
  • alg8-cdg
polycystic liver disease
  • isolated autosomal dominant polycystic liver disease
- elite association - COSMIC cancer census association via MalaCards
Search ALG8 in MalaCards View complete list of genes associated with diseases


  • Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:15235028}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALG8

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ALG8: view

No data available for Genatlas for ALG8 Gene

Publications for ALG8 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). (PMID: 15235028) Schollen E … Matthijs G (Journal of medical genetics 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. (PMID: 12480927) Chantret I … Moore SE (The Journal of biological chemistry 2003) 3 4 60
  5. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F … Valle G (Yeast (Chichester, England) 2001) 3 4 60

Products for ALG8 Gene

Sources for ALG8 Gene

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