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FLASH GENE

Symbol

POMGNT1

contributors: mct/npt - updated : 06-10-2016

HGNC name	protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
HGNC id	19139

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MDDGB3 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 RP76 retinitis pigmentosa 76 WLKWS4 Walker-Warburg syndrome 4
Location	1p34.1      Physical location : 46.654.353 - 46.685.977
Synonym name	O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
Synonym symbol(s)	MGAT1.2, FLJ20277, GnTI.2, DKFZp761B182, MEB
EC.number	2.4.1.-

DNA

TYPE	functioning gene
STRUCTURE	9.77 kb     22 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017739 22 - 2753 75.1 660 - 2014 24733390 NM_001243766 23 - 2953 NP_001230695 - 748 - 2014 24733390 NM_001290130 22 - 2366 NP_001277059 - 517 - 2014 24733390 NM_001290129 22 - 2400 NP_001277058 - 638 - 2014 24733390

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     moderately   mouth tongue     highly   pancreas exocrine       moderately Lymphoid/Immune spleen         Nervous brain         Reproductive female system uterus cervix   highly   male system prostate     highly Respiratory respiratory tract larynx     moderately Skin/Tegument skin       moderately Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a cytoplasmic tail
	a transmembrane domain
	one STEM domain
	the catalytic domain with the enzyme binding region and the substrate -specific region

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to murine Pomgnt1

Homologene

FAMILY

glycosyltransferase 13 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,microsome
text	typical type II membrane protein, which is localized in the Golgi apparatus

basic FUNCTION	participating in O-mannosyl glycan synthesis
	catalyzing the transfer of GlcNAc to O-mannose of glycoproteins
	promotes Glioblastoma multiforme (GBM) progression via activation of CTNNB1
	is a Golgi glycosyltransferase that catalyzes the formation of the N-acetylglucosamine (GlcNAc) beta1&
	8594;2Man linkage of O-mannosyl glycan
	is glycosylated by mucin-type O-glycans

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

locomotion

PATHWAY

metabolism

other

signaling

glycosylation

a component

forms a complex with FKTN that may modulate its enzymatic activity

INTERACTION

DNA

RNA

small molecule	cofactor,
	Mn2+

protein	DAG1 and LARGE for a convergent post-translational processing pathway during the biosynthesis of dystroglycan in the muscle
	alpha-dystroglycan, a substrate of POMGNT1, is concentrated around the blood vessels, in the outer plexiform layer (OPL), and in the inner limiting membrane (ILM) of the retina
	interacting with FKTN
	GOLPH3 was found to bind to POMGNT1 which is involved in O-mannosylation of alpha-dystroglycan (novel role for GOLPH3 in mediating the Golgi localization of POMGNT1)
	POMGNT1 stem region modulates O-mannosylation sites of DAG1, by its carbohydrate-binding domain

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

WLKWS4 , MDDGC3 , MDDGB3 , RP76

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	prognostic factor for glioma patient survival
Therapy target
	System Type Disorder Pubmed cancer brain glioma/neuroblstoma novel molecular target for anticancer therapy in malignant glioma

ANIMAL & CELL MODELS

altered glycosylation of Alpha-dystroglycan may be responsible for the reactive gliosis and reticular fibrosis in the retina, and the subsequent developments of retinal dysplasia, abnormal ERGs, and retinal detachment in the mutant mice