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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 2.4.1.265 4
  • HUSSY-02 3
  • EC 2.4.1 61
  • 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 of proteins. 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

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
GH11F078163 0.6 ENCODE 12.7 -24.7 -24652 1.3 RAD21 KCTD21-AS1 ALG8 KCTD21 USP35 GC11M078165 GC11P078155 PIR47143
GH11F078166 0.6 ENCODE 12.7 -27.5 -27505 1.3 ZNF639 LEF1 ESRRA L3MBTL2 TAL1 NR4A1 ZBTB11 SIN3A ARID1B CREB3 KCTD21-AS1 ALG8 KCTD21 USP35 NDUFC2 THRSP GC11M078165 PIR40351
GH11F078179 0.5 ENCODE 11.5 -40.2 -40210 0.2 ELF3 HDGF FEZF1 CEBPG THRB RAD21 TEAD3 ZNF366 FOSL2 FOS ALG8 KCTD21-AS1 PIR40351 USP35
GH11F078185 0.9 FANTOM5 ENCODE 11.5 -48.2 -48216 5.4 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 KCTD21-AS1 RSF1 ALG8 USP35 INTS4 PIR40351
GH11F078036 1.2 FANTOM5 Ensembl ENCODE 6.7 +100.3 100335 5.6 HDGF ARNT MLX ARID4B ZNF2 YY1 ZNF302 ZNF548 FOS MCM3 KCTD21-AS1 LOC101928865 RSF1 ENSG00000255449 RPL21P95 NDUFC2 ALG8 KCTD14 ENSG00000254675
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ALG8 on UCSC Golden Path with GeneCards custom track

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

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:
    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

Selected DME Specific Peptides for ALG8 Gene

Q9BVK2:
  • STDFEVHRNW
  • SRLFPFKRGL
  • LPISQWY
  • WTLDYPPFF
  • VHRNWLAIT
  • FGWHVHEKAI
  • HAYWAPN
  • DHIHFQYNG

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:0004583 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl 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

Animal Model Products

Inhibitory RNA 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 4
plasma membrane 3
nucleus 2

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 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-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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and 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:

ALG8

SOURCE GeneReport for Unigene cluster for ALG8 Gene:

Hs.503368
genes like me logo Genes that share expression patterns with ALG8: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ALG8 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia ALG8 34 35
  • 91.89 (n)
cow
(Bos Taurus)
Mammalia ALG8 34 35
  • 91.13 (n)
mouse
(Mus musculus)
Mammalia Alg8 34 16 35
  • 86.88 (n)
rat
(Rattus norvegicus)
Mammalia Alg8 34
  • 85.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ALG8 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG8 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG8 34 35
  • 74.24 (n)
lizard
(Anolis carolinensis)
Reptilia ALG8 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg8 34
  • 68.85 (n)
Str.7088 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7675 34
zebrafish
(Danio rerio)
Actinopterygii alg8 34 35
  • 67.18 (n)
wufi19e09 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003928 34
  • 54.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4542 34 35
  • 53.35 (n)
worm
(Caenorhabditis elegans)
Secernentea C08H9.3 35
  • 24 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG8 34 35 37
  • 51.44 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F16621g 34
  • 51.41 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR210C 34
  • 46.77 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G44660 34
  • 51.46 (n)
rice
(Oryza sativa)
Liliopsida Os02g0688500 34
  • 48.49 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg8 34
  • 52.16 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00163 34
  • 51.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4086 34
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

ENSEMBL:
Gene Tree for ALG8 (if available)
TreeFam:
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 Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104], Pathogenic 78,127,393(-) CTATC(A/C/T)CTCAC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs121908294 Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104], Pathogenic 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, missense, stop-gained, utr-variant-5-prime
rs387906277 Pathogenic 78,121,130(-) ACTTA(-/C)AGAAA nc-transcript-variant, reference, frameshift-variant
rs199911532 Likely benign 78,127,442(+) CTACT(C/G/T)AAAAC intron-variant

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

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

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)
ALG8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ih
  • alg8-cdg
protein-losing enteropathy
  • enteropathy, exudative
- elite association - COSMIC cancer census association via MalaCards
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 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)
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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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. (J. Med. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 S.E.H. (J. Biol. Chem. 2003) 3 4 64
  5. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F. … Valle G. (Yeast 2001) 3 4 64

Products for ALG8 Gene

Sources for ALG8 Gene

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