ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase)

2014-11-01  

Identity

HGNC
ALG1
LOCATION
16p13.3
LOCUSID
56052
ALIAS
CDG1K,HMAT1,HMT-1,HMT1,MT-1,Mat-1,hMat-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56052
MIM: 605907
HGNC: 18294
Ensembl: ENSG00000033011

Variants:

dbSNP: 56052
ClinVar: 56052
TCGA: ENSG00000033011
COSMIC: ALG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000033011ENST00000262374Q9BT22
ENSG00000033011ENST00000544428Q9BT22
ENSG00000033011ENST00000586840K7EPU3
ENSG00000033011ENST00000588623Q9BT22
ENSG00000033011ENST00000591783K7EID2
ENSG00000033011ENST00000591822K7EQK1

Expression (GTEx)

0
5
10
15
20
25
30
35
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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
293094332018Association studies of WD repeat domain 3 and chitobiosyldiphosphodolichol beta-mannosyltransferase genes with schizophrenia in a Japanese population.0
293094332018Association studies of WD repeat domain 3 and chitobiosyldiphosphodolichol beta-mannosyltransferase genes with schizophrenia in a Japanese population.0
269313822016ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.26
269313822016ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.26
241572612014ALG1-CDG: a new case with early fatal outcome.15
241572612014ALG1-CDG: a new case with early fatal outcome.15
229660352012Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.18
229660352012Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.18
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206796652010Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.16
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206796652010Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.16

Citation

Dessen P

ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60246/js/lib/haematological-explorer/favicon/favicon-16x16.png