ALG9 (ALG9 alpha-1,2-mannosyltransferase)

2014-11-01 Affiliation

Identity

HGNC

ALG9

LOCATION

11q23.1

LOCUSID

79796

ALIAS

CDG1L,DIBD1,GIKANIS,LOH11CR1J

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: 79796
MIM: 606941
HGNC: 15672
Ensembl: ENSG00000086848

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000086848	ENST00000398006	Q9H6U8
ENSG00000086848	ENST00000524671	H0YEX8
ENSG00000086848	ENST00000525910	H0YF48
ENSG00000086848	ENST00000531154	Q9H6U8
ENSG00000086848	ENST00000532425	H0YCW6
ENSG00000086848	ENST00000612489	A0A087WTZ3
ENSG00000086848	ENST00000613181	A0A087WVC0
ENSG00000086848	ENST00000614444	Q9H6U8
ENSG00000086848	ENST00000616540	Q9H6U8
ENSG00000086848	ENST00000618252	A0A087WZY8
ENSG00000086848	ENST00000619129	A0A087WX16

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37761895	2023	Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease.	0
37761895	2023	Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease.	0
35839600	2022	Missense 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
35839600	2022	Missense 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
32359033	2020	LncRNA MEG3 contributes to drug resistance in acute myeloid leukemia by positively regulating ALG9 through sponging miR-155.	22
32359033	2020	LncRNA MEG3 contributes to drug resistance in acute myeloid leukemia by positively regulating ALG9 through sponging miR-155.	22
31395617	2019	ALG9 Mutation Carriers Develop Kidney and Liver Cysts.	56
31395617	2019	ALG9 Mutation Carriers Develop Kidney and Liver Cysts.	56
25966638	2016	A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.	13
26733289	2016	Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.	21
25966638	2016	A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.	13
26733289	2016	Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.	21
19451548	2009	Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.	10
19451548	2009	Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.	10
16859551	2006	Common 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/teaching-explorer/haematological-explorer/