ALG8 (ALG8 alpha-1,3-glucosyltransferase)

2014-11-01  

Identity

HGNC
ALG8
LOCATION
11q14.1
LOCUSID
79053
ALIAS
CDG1H,PCLD3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79053
MIM: 608103
HGNC: 23161
Ensembl: ENSG00000159063

Variants:

dbSNP: 79053
ClinVar: 79053
TCGA: ENSG00000159063
COSMIC: ALG8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159063ENST00000299626Q9BVK2
ENSG00000159063ENST00000299626A0A024R5K5
ENSG00000159063ENST00000376156Q9BVK2
ENSG00000159063ENST00000525755E9PK79
ENSG00000159063ENST00000525761E9PLP7
ENSG00000159063ENST00000525783H0YDQ1
ENSG00000159063ENST00000525870E9PKA5
ENSG00000159063ENST00000526737E9PP80
ENSG00000159063ENST00000526849H0YDV4
ENSG00000159063ENST00000527099E9PR58
ENSG00000159063ENST00000529139H0YD42
ENSG00000159063ENST00000530454E9PP96
ENSG00000159063ENST00000530608H0YCV0
ENSG00000159063ENST00000530910E9PP04
ENSG00000159063ENST00000532050E9PNE2
ENSG00000159063ENST00000532306H0YEE0
ENSG00000159063ENST00000532440H0YDD3
ENSG00000159063ENST00000615266Q9BVK2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
N-glycan precursor biosynthesisKEGGhsa_M00055
N-glycan precursor biosynthesisKEGGM00055
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
365749502023Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.8
365749502023Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.8
364542742022ALG8 Fuels Stemness Through Glycosylation of the WNT/Beta-Catenin Signaling Pathway in Colon Cancer.2
364542742022ALG8 Fuels Stemness Through Glycosylation of the WNT/Beta-Catenin Signaling Pathway in Colon Cancer.2
304207072019Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.4
304207072019Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.4
283751572017Isolated polycystic liver disease genes define effectors of polycystin-1 function.68
283751572017Isolated polycystic liver disease genes define effectors of polycystin-1 function.68
260663422015ALG8-CDG: novel patients and review of the literature.23
260663422015ALG8-CDG: novel patients and review of the literature.23
245551852014Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.5
245551852014Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.5
223068532012Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.2
223068532012Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.2
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

ALG8 (ALG8 alpha-1,3-glucosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60255/case-report-explorer/js/lib/welcome