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Aliases for ALG8 Gene

Aliases for ALG8 Gene

  • ALG8, Alpha-1,3-Glucosyltransferase 2 3
  • 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
  • Dolichyl-P-Glucose:Glc1Man9GlcNAc2-PP-Dolichyl-Alpha-1,3-Glucosyltransferase 3
  • Asparagine-Linked Glycosylation 8, Alpha-1,3-Glucosyltransferase Homolog 3
  • Dolichyl Pyrophosphate Glc1Man9GlcNAc2 Alpha-1,3-Glucosyltransferase 3
  • EC 2.4.1.265 4
  • HUSSY-02 3
  • EC 2.4.1 63
  • 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 protein-losing enteropathy. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. 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

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

Genomics for ALG8 Gene

Regulatory Elements for ALG8 Gene

Genomic Location for ALG8 Gene

Chromosome:
11
Start:
78,100,936 bp from pter
End:
78,139,660 bp from pter
Size:
38,725 bases
Orientation:
Minus strand

Genomic View for ALG8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q9BVK2-ALG8_HUMAN
    Recommended name:
    Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
    Protein Accession:
    Q9BVK2
    Secondary Accessions:
    • A6NDW6
    • O60860

    Protein attributes for ALG8 Gene

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

    Alternative splice isoforms for ALG8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALG8 Gene

Proteomics data for ALG8 Gene at MOPED

Selected DME Specific Peptides for ALG8 Gene

Post-translational modifications for ALG8 Gene

  • Ubiquitination at Lys 304
  • Modification sites at PhosphoSitePlus

Domains & Families for ALG8 Gene

Gene Families for ALG8 Gene

Protein Domains for ALG8 Gene

Suggested Antigen Peptide Sequences for ALG8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BVK2

UniProtKB/Swiss-Prot:

ALG8_HUMAN :
  • Belongs to the ALG6/ALG8 glucosyltransferase family.
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:0016758 transferase activity, transferring hexosyl groups --
GO:0042281 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity IBA --
genes like me logo Genes that share ontologies with ALG8: view
genes like me logo Genes that share phenotypes with ALG8: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALG8

In Situ Assay Products

Flow Cytometry Products

No data available for 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

COMPARTMENTS
Jensen Localization Image for ALG8 Gene COMPARTMENTS Subcellular localization image for ALG8 gene
Compartment Confidence
endoplasmic reticulum 3
nucleus 2

Gene Ontology (GO) - Cellular Components for ALG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
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:0006487 protein N-linked glycosylation IMP 12480927
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006490 oligosaccharide-lipid intermediate biosynthetic process IBA --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
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-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
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
220496-27-5
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALG8

Flow Cytometry 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: - -
SP11:

ExUns: 14b ^ 15 ^ 16 ^ 17
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ALG8 Gene

GeneLoc Exon Structure for
ALG8
ECgene alternative splicing isoforms for
ALG8

Expression for ALG8 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for ALG8 Gene



SOURCE GeneReport for Unigene cluster for ALG8 Gene Hs.503368

genes like me logo Genes that share expression patterns with ALG8: view

Protein tissue co-expression partners for ALG8 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ALG8 35
  • 91.13 (n)
  • 92.78 (a)
ALG8 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALG8 35
  • 91.89 (n)
  • 92.97 (a)
ALG8 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alg8 35
  • 86.88 (n)
  • 89.92 (a)
Alg8 16
Alg8 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALG8 35
  • 99.56 (n)
  • 99.62 (a)
ALG8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alg8 35
  • 85.04 (n)
  • 87.26 (a)
oppossum
(Monodelphis domestica)
Mammalia ALG8 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG8 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG8 35
  • 74.24 (n)
  • 77.67 (a)
ALG8 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALG8 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg8 35
  • 68.85 (n)
  • 70.52 (a)
Str.7088 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7675 35
zebrafish
(Danio rerio)
Actinopterygii alg8 35
  • 67.18 (n)
  • 68.73 (a)
wufi19e09 35
alg8 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003928 35
  • 54.69 (n)
  • 55.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4542 35
  • 53.35 (n)
  • 52.17 (a)
CG4542 36
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C08H9.3 36
  • 24 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR210C 35
  • 46.77 (n)
  • 43.25 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16621g 35
  • 51.41 (n)
  • 43.43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG8 35
  • 51.44 (n)
  • 42.53 (a)
ALG8 36
  • 35 (a)
OneToOne
ALG8 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G44660 35
  • 51.46 (n)
  • 47.76 (a)
rice
(Oryza sativa)
Liliopsida Os02g0688500 35
  • 48.49 (n)
  • 42.8 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4086 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00163 35
  • 51.08 (n)
  • 45.93 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg8 35
  • 52.16 (n)
  • 47.98 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for ALG8:
  • 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

ENSEMBL:
Gene Tree for ALG8 (if available)
TreeFam:
Gene Tree for ALG8 (if available)

Paralogs for ALG8 Gene

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

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 MAF
rs76433691 -- 78,135,355(+) GTTTC(-/A)AAAAA intron-variant
rs76552681 -- 78,124,192(+) GGTAA(C/T)CCAAC reference, missense, utr-variant-5-prime, nc-transcript-variant
rs76639811 -- 78,126,998(+) TTTTT(G/T)AGACA intron-variant
rs76648660 -- 78,110,724(+) CACCT(A/G)TAGGG intron-variant
rs76679000 -- 78,133,545(+) ATAAT(G/T)AAGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv520740 CNV Gain 19592680

Variation tolerance for ALG8 Gene

Residual Variation Intolerance Score: 85.63% 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

HapMap Linkage Disequilibrium report
ALG8
Human Gene Mutation Database (HGMD)
ALG8

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: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ih
  • congenital disorder of glycosylation 1h
protein-losing enteropathy
  • enteropathy, exudative
- elite association
Search ALG8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALG8_HUMAN
  • Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]: 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)
ALG8
Human Genome Epidemiology (HuGE) Navigator
ALG8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALG8
genes like me logo Genes that share disorders with ALG8: view

No data available for Genatlas for ALG8 Gene

Publications for ALG8 Gene

  1. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  2. Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. (PMID: 24555185) Kouwenberg D. … Morava E. (Pediatr Dermatol 2014) 67
  3. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 67
  4. Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. (PMID: 22306853) Sorte H. … Prescott T. (Eur J Med Genet 2012) 67
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 67

Products for ALG8 Gene

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