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Aliases for ALG6 Gene

Aliases for ALG6 Gene

  • ALG6, Alpha-1,3-Glucosyltransferase 2 3 5
  • 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
  • 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-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
  • CDG1C 3

External Ids for ALG6 Gene

Previous GeneCards Identifiers for ALG6 Gene

  • GC01P063768
  • GC01P062756
  • GC01P063191
  • GC01P063203
  • GC01P063545
  • GC01P063605
  • GC01P063834
  • GC01P061941

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 alg6-congenital disorder of glycosylation. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include transferase activity, transferring hexosyl groups and 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

Regulatory Elements for ALG6 Gene

Promoters for ALG6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ALG6 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALG6 Gene

Chromosome:
1
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

Genes around ALG6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALG6 Gene

Antibody Products

Domains & Families for ALG6 Gene

Gene Families for ALG6 Gene

Protein Domains for ALG6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y672

UniProtKB/Swiss-Prot:

ALG6_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 ALG6: view

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:0042281 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity IBA --
genes like me logo Genes that share ontologies with ALG6: view
genes like me logo Genes that share phenotypes with ALG6: view

Human Phenotype Ontology for ALG6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets 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 4
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for ALG6 Gene

Pathways & Interactions 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:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with ALG6: view

No data available for SIGNOR curated interactions for ALG6 Gene

Drugs & Compounds for ALG6 Gene

(2) Additional Compounds for ALG6 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 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

Protein differential expression in normal tissues from HIPED for ALG6 Gene

This gene is overexpressed in Nasal epithelium (51.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ALG6: view

Protein tissue co-expression partners for ALG6 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 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
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
chimpanzee
(Pan troglodytes)
Mammalia ALG6 35
  • 99.15 (n)
  • 99.21 (a)
ALG6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alg6 35
  • 85.73 (n)
  • 86.39 (a)
oppossum
(Monodelphis domestica)
Mammalia ALG6 36
  • 41 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG6 36
  • 79 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia alg6 35
  • 66.8 (n)
  • 65.02 (a)
Str.8942 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.2739 35
zebrafish
(Danio rerio)
Actinopterygii alg6 35
  • 62.19 (n)
  • 61.07 (a)
alg6 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5091 37
  • 44 (a)
gny 35
  • 50.81 (n)
  • 47.36 (a)
gny 36
  • 45 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008946 35
  • 47.22 (n)
  • 45.67 (a)
worm
(Caenorhabditis elegans)
Secernentea C08B11.8 37
  • 36 (a)
C08B11.8 35
  • 51.11 (n)
  • 44.14 (a)
C08B11.8 36
  • 37 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR004W 35
  • 45.28 (n)
  • 38.57 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01221g 35
  • 49.62 (n)
  • 43.22 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG6 35
  • 47.54 (n)
  • 38.32 (a)
ALG6 36
  • 33 (a)
OneToOne
ALG6 38
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

(1) 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
rs4630153 - 63,415,881(+) TTGTT(C/T)TACGT reference, missense
VAR_013443 Congenital disorder of glycosylation 1C (CDG1C)
VAR_013444 Congenital disorder of glycosylation 1C (CDG1C)
rs35383149 Congenital disorder of glycosylation 1C (CDG1C) 63,406,361(-) ACAGT(A/G)CAAAA reference, missense
VAR_022512 Congenital disorder of glycosylation 1C (CDG1C)

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

Variation tolerance for ALG6 Gene

Residual Variation Intolerance Score: 73.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.53; 55.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALG6 Gene

HapMap Linkage Disequilibrium report
ALG6
Human Gene Mutation Database (HGMD)
ALG6

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

Disorders for ALG6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ALG6 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ic
  • carbohydrate-deficient glycoprotein syndrome type v
alg6-congenital disorder of glycosylation
  • carbohydrate-deficient glycoprotein syndrome type ic
congenital disorder of glycosylation, type in
  • congenital disorder of glycosylation
protein-losing enteropathy
  • enteropathy, exudative
carbohydrate metabolic disorder
  • disorder of carbohydrate transport and metabolism
- elite association - COSMIC cancer census association via MalaCards
Search ALG6 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ALG6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALG6
genes like me logo Genes that share disorders with ALG6: view

No data available for Genatlas for ALG6 Gene

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 67
  2. 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
  3. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PMID: 12357336) Schollen E. … Matthijs G. (Eur. J. Hum. Genet. 2002) 3 23
  4. 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 23
  5. Multi-allelic origin of congenital disorder of glycosylation (CDG)- Ic. (PMID: 10914684) Imbach T. … Hennet T. (Hum. Genet. 2000) 3 23

Products for ALG6 Gene

Sources for ALG6 Gene

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