ALG6 (ALG6 alpha-1,3-glucosyltransferase)

2014-08-01 Affiliation

Identity

HGNC

ALG6

LOCATION

1p31.3

LOCUSID

29929

ALIAS

CDG1C

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 29929
MIM: 604566
HGNC: 23157
Ensembl: ENSG00000088035

Variants:

dbSNP: 29929
ClinVar: 29929
TCGA: ENSG00000088035
COSMIC: ALG6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000088035	ENST00000263440	Q9Y672
ENSG00000088035	ENST00000487136	R4GMS5
ENSG00000088035	ENST00000603108	S4R350
ENSG00000088035	ENST00000647818	A0A3B3ITD6
ENSG00000088035	ENST00000648964	A0A3B3ITL6
ENSG00000088035	ENST00000649570	A0A3B3ITI5
ENSG00000088035	ENST00000650494	A0A3B3IS62

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
N-Glycan biosynthesis	KEGG	ko00510
N-Glycan biosynthesis	KEGG	hsa00510
Metabolic pathways	KEGG	hsa01100
N-glycan precursor biosynthesis	KEGG	hsa_M00055
N-glycan precursor biosynthesis	KEGG	M00055
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	REACTOME	R-HSA-446193

References

Pubmed ID	Year	Title	Citations
38256083	2024	Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.	0
38256083	2024	Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.	0
32407885	2020	Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.	4
32407885	2020	Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.	4
27287710	2016	ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.	19
27287710	2016	ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.	19
21899441	2012	Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.	3
21899441	2012	Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.	3
16321363	2006	Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.	6
16321363	2006	Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.	6
11875054	2002	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.	16
11875054	2002	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.	16

Citation

Dessen P

ALG6 (ALG6 alpha-1,3-glucosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54118/gene-fusions-explorer/css/haematological-explorer/