ALG9 (ALG9 alpha-1,2-mannosyltransferase)

2014-11-01  

Identity

HGNC
ALG9
LOCATION
11q23.1
LOCUSID
79796
ALIAS
CDG1L,DIBD1,GIKANIS,LOH11CR1J
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79796
MIM: 606941
HGNC: 15672
Ensembl: ENSG00000086848

Variants:

dbSNP: 79796
ClinVar: 79796
TCGA: ENSG00000086848
COSMIC: ALG9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000086848ENST00000398006Q9H6U8
ENSG00000086848ENST00000524671H0YEX8
ENSG00000086848ENST00000525910H0YF48
ENSG00000086848ENST00000531154Q9H6U8
ENSG00000086848ENST00000532425H0YCW6
ENSG00000086848ENST00000612489A0A087WTZ3
ENSG00000086848ENST00000613181A0A087WVC0
ENSG00000086848ENST00000614444Q9H6U8
ENSG00000086848ENST00000616540Q9H6U8
ENSG00000086848ENST00000618252A0A087WZY8
ENSG00000086848ENST00000619129A0A087WX16

Expression (GTEx)

0
5
10
15
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
377618952023Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease.0
377618952023Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease.0
358396002022Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.3
358396002022Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.3
323590332020LncRNA MEG3 contributes to drug resistance in acute myeloid leukemia by positively regulating ALG9 through sponging miR-155.22
323590332020LncRNA MEG3 contributes to drug resistance in acute myeloid leukemia by positively regulating ALG9 through sponging miR-155.22
313956172019ALG9 Mutation Carriers Develop Kidney and Liver Cysts.56
313956172019ALG9 Mutation Carriers Develop Kidney and Liver Cysts.56
259666382016A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.13
267332892016Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.21
259666382016A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.13
267332892016Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.21
194515482009Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.10
194515482009Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.10
168595512006Common variations in ALG9 are not associated with bipolar I disorder: a family-based study.2

Citation

Dessen P

ALG9 (ALG9 alpha-1,2-mannosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60256/favicon/gene-fusions/js/lib/jquery-3.5.1.min.js