POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))

2016-10-01 Affiliation

Identity

HGNC

POMGNT1

LOCATION

1p34.1

LOCUSID

55624

ALIAS

GNTI.2,GnT

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: 55624
MIM: 606822
HGNC: 19139
Ensembl: ENSG00000085998

Variants:

dbSNP: 55624
ClinVar: 55624
TCGA: ENSG00000085998
COSMIC: POMGNT1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000085998	ENST00000371984	Q8WZA1
ENSG00000085998	ENST00000371992	Q8WZA1
ENSG00000085998	ENST00000396420	Q68CV6

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
Metabolic pathways	KEGG	hsa01100
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
O-linked glycosylation	REACTOME	R-HSA-5173105
Mannose type O-glycan biosynthesis	KEGG	ko00515
Mannose type O-glycan biosynthesis	KEGG	hsa00515

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17878207	2007	Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.	125
19299310	2009	Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.	54
12788071	2003	Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.	28
24733390	2014	Golgi phosphoprotein 3 mediates the Golgi localization and function of protein O-linked mannose β-1,2-N-acetlyglucosaminyltransferase 1.	17
17906881	2007	Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.	16
16857188	2006	Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb.	15
17869517	2008	Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.	10
26908613	2016	Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.	10
15466003	2004	POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.	8
22419172	2012	Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.	8

Citation

Dessen P

POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56373/pomgnt1