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Aliases for ALG6 Gene

Aliases for ALG6 Gene

  • ALG6, Alpha-1,3-Glucosyltransferase 2 3
  • Asparagine-Linked Glycosylation 6 Homolog (Yeast, Alpha-1,3-Glucosyltransferase) 2 3
  • Dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-Dolichol Alpha- 1->3-Glucosyltransferase 2 3
  • Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol Alpha-1,3-Glucosyltransferase 3 4
  • Dolichyl-P-Glc:Man9GlcNAc2-PP-Dolichyl Glucosyltransferase 3 4
  • Asparagine-Linked Glycosylation Protein 6 Homolog 3 4
  • CDG1C 3 6
  • Asparagine-Linked Glycosylation 6, Alpha-1,3-Glucosyltransferase Homolog (S. Cerevisiae) 2
  • Asparagine-Linked Glycosylation 6 Homolog (S. Cerevisiae, Alpha-1,3-Glucosyltransferase) 3
  • Asparagine-Linked Glycosylation 6, Alpha-1,3-Glucosyltransferase Homolog 3
  • Dolichyl Pyrophosphate Man9GlcNAc2 Alpha-1,3-Glucosyltransferase 3
  • Dolichyl-P-Glc:Man9GlcNAc2-PP-Dolichylglucosyltransferase 3
  • Man(9)GlcNAc(2)-PP-Dol Alpha-1,3-Glucosyltransferase 3
  • EC 2.4.1.267 4
  • EC 2.4.1 63

External Ids for ALG6 Gene

Summaries for ALG6 Gene

Entrez Gene Summary for ALG6 Gene

  • This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]

GeneCards Summary for ALG6 Gene

ALG6 (ALG6, Alpha-1,3-Glucosyltransferase) is a Protein Coding gene. Diseases associated with ALG6 include congenital disorder of glycosylation, type ic and protein-losing enteropathy. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include glucosyltransferase activity.

UniProtKB/Swiss-Prot for ALG6 Gene

  • Adds the first 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 Man(9)GlcNAc(2)-PP-Dol

Gene Wiki entry for ALG6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG6 Gene

Genomics for ALG6 Gene

Genomic Location for ALG6 Gene

Start:
63,367,590 bp from pter
End:
63,438,562 bp from pter
Size:
70,973 bases
Orientation:
Plus strand

Genomic View for ALG6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALG6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG6 Gene

Regulatory Elements for ALG6 Gene

Proteins for ALG6 Gene

  • Protein details for ALG6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y672-ALG6_HUMAN
    Recommended name:
    Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
    Protein Accession:
    Q9Y672
    Secondary Accessions:
    • B3KMU2
    • Q5SXR9
    • Q9H3I0

    Protein attributes for ALG6 Gene

    Size:
    507 amino acids
    Molecular mass:
    58181 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ALG6 Gene

Proteomics data for ALG6 Gene at MOPED

Post-translational modifications for ALG6 Gene

No Post-translational modifications

Other Protein References for ALG6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ALG6 Gene

Protein Domains for ALG6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y672

UniProtKB/Swiss-Prot:

ALG6_HUMAN
Family:
  • Belongs to the ALG6/ALG8 glucosyltransferase family.:
    • Q9Y672
genes like me logo Genes that share domains with ALG6: view

No data available for Gene Families for ALG6 Gene

Function for ALG6 Gene

Molecular function for ALG6 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Dolichyl beta-D-glucosyl phosphate + 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-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 first 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 Man(9)GlcNAc(2)-PP-Dol

Enzyme Numbers (IUBMB) for ALG6 Gene

Gene Ontology (GO) - Molecular Function for ALG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016758 transferase activity, transferring hexosyl groups --
GO:0042281 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity IBA --
GO:0046527 glucosyltransferase activity IDA 10359825
genes like me logo Genes that share ontologies with ALG6: view

Phenotypes for ALG6 Gene

GenomeRNAi human phenotypes for ALG6:
genes like me logo Genes that share phenotypes with ALG6: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ALG6 Gene

Localization for ALG6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG6 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALG6 Gene COMPARTMENTS Subcellular localization image for ALG6 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for ALG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALG6: view

Pathways for ALG6 Gene

genes like me logo Genes that share pathways with ALG6: view

UniProtKB/Swiss-Prot Q9Y672-ALG6_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for ALG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006487 protein N-linked glycosylation IGI 10359825
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006490 oligosaccharide-lipid intermediate biosynthetic process IBA --
GO:0008152 metabolic process --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
genes like me logo Genes that share ontologies with ALG6: view

Compounds for ALG6 Gene

(1) HMDB Compounds for ALG6 Gene

Compound Synonyms Cas Number PubMed IDs
Dolichyl b-D-glucosyl phosphate
  • Dolichol monophosphate glucose
220496-27-5
genes like me logo Genes that share compounds with ALG6: view

Transcripts for ALG6 Gene

Unigene Clusters for ALG6 Gene

ALG6, alpha-1,3-glucosyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALG6 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17
SP1: - - -
SP2: - - -
SP3:
SP4: -
SP5:

Relevant External Links for ALG6 Gene

GeneLoc Exon Structure for
ALG6
ECgene alternative splicing isoforms for
ALG6

Expression for ALG6 Gene

mRNA expression in normal human tissues for ALG6 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALG6 Gene

SOURCE GeneReport for Unigene cluster for ALG6 Gene Hs.258501

genes like me logo Genes that share expressions with ALG6: 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 ALG6 Gene

Orthologs for ALG6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG6 35
  • 99.15 (n)
  • 99.21 (a)
ALG6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALG6 35
  • 91.85 (n)
  • 91.12 (a)
ALG6 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALG6 35
  • 93.62 (n)
  • 94.08 (a)
ALG6 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alg6 35
  • 85.47 (n)
  • 84.42 (a)
Alg6 16
Alg6 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALG6 36
  • 41 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG6 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alg6 35
  • 85.73 (n)
  • 86.39 (a)
chicken
(Gallus gallus)
Aves ALG6 35
  • 74.88 (n)
  • 75.35 (a)
ALG6 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALG6 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2739 35
tropical clawed frog
(Silurana tropicalis)
Amphibia alg6 35
  • 66.8 (n)
  • 65.02 (a)
Str.8942 35
zebrafish
(Danio rerio)
Actinopterygii alg6 35
  • 62.19 (n)
  • 61.07 (a)
alg6 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008946 35
  • 47.22 (n)
  • 45.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta gny 35
  • 50.81 (n)
  • 47.36 (a)
gny 36
  • 45 (a)
OneToOne
CG5091 37
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea C08B11.8 35
  • 51.11 (n)
  • 44.14 (a)
C08B11.8 36
  • 37 (a)
OneToOne
C08B11.8 37
  • 36 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR004W 35
  • 45.28 (n)
  • 38.57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG6 35
  • 47.54 (n)
  • 38.32 (a)
ALG6 36
  • 33 (a)
OneToOne
ALG6 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01221g 35
  • 49.62 (n)
  • 43.22 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G38460 35
  • 49.55 (n)
  • 41.75 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03317 35
  • 48.17 (n)
  • 41.97 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg6 35
  • 53.37 (n)
  • 44.94 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for ALG6:
  • 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 (Oryza sativa)
  • 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 ALG6 Gene

ENSEMBL:
Gene Tree for ALG6 (if available)
TreeFam:
Gene Tree for ALG6 (if available)

Paralogs for ALG6 Gene

Selected SIMAP similar genes for ALG6 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ALG6: view

No data available for Paralogs for ALG6 Gene

Variants for ALG6 Gene

Sequence variations from dbSNP and Humsavar for ALG6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs968811 -- 63,403,502(+) GAAGT(A/G)TGTCA intron-variant
rs977947 -- 63,407,779(+) TTTCC(C/T)TTTGA intron-variant
rs1012871 -- 63,405,969(+) TTCAG(C/T)TATTC intron-variant
rs1012872 -- 63,406,210(+) GGGCA(A/G)GAACC intron-variant
rs1061652 -- 63,438,348(+) TGGTC(A/C)CCATC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ALG6 Gene

Variant ID Type Subtype PubMed ID
nsv461672 CNV Gain 19166990
nsv470714 CNV Gain 18288195
nsv1132 CNV Loss 18451855
nsv871017 CNV Loss 21882294
esv1543308 CNV Deletion 17803354

Relevant External Links for ALG6 Gene

HapMap Linkage Disequilibrium report
ALG6
Human Gene Mutation Database (HGMD)
ALG6
Locus Specific Mutation Databases (LSDB)
ALG6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG6 Gene

Disorders for ALG6 Gene

(1) OMIM Diseases for ALG6 Gene (604566)

UniProtKB/Swiss-Prot

ALG6_HUMAN
  • Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]: 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:10359825, ECO:0000269 PubMed:10914684, ECO:0000269 PubMed:10924277, ECO:0000269 PubMed:11106564, ECO:0000269 PubMed:11134235, ECO:0000269 PubMed:12357336, ECO:0000269 PubMed:14517965}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ALG6 Gene

(2) Novoseek inferred disease relationships for ALG6 Gene

Disease -log(P) Hits PubMed IDs
congenital disorders 89.8 4
carbohydrate-deficient glycoprotein syndrome 83.9 1

Relevant External Links for ALG6

GeneTests
ALG6
GeneReviews
ALG6
genes like me logo Genes that share disorders with ALG6: view

Publications for ALG6 Gene

  1. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. (PMID: 10359825) Imbach T. … Hennet T. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23
  2. Multi-allelic origin of congenital disorder of glycosylation (CDG)- Ic. (PMID: 10914684) Imbach T. … Hennet T. (Hum. Genet. 2000) 3 4 23
  3. Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. (PMID: 11106564) Westphal V. … Freeze H.H. (Am. J. Pathol. 2000) 3 4 23
  4. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. (PMID: 11875054) Westphal V. … Freeze H.H. (Hum. Mol. Genet. 2002) 2 3 4
  5. The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic. (PMID: 11558905) Vuillaumier-Barrot S. … Seta N. (J. Hum. Genet. 2001) 3 4 23

Products for ALG6 Gene

Sources for ALG6 Gene

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