POMT1

Last Update:2022-01-07

POMT1 encodes protein O-mannosyltransferase 1. POMT1 and POMT2 transfer Man to the hydroxyl group of Ser or Thr of specific proteins such as alpha-dystroglycan using mannose dolicholate as a sugar donor. POMT1 and POMT2 are multiple transmembrane proteins, respectively, and form a complex in the endoplasmic reticulum to exert enzymatic activities. Both POMT1 and POMT2 genes are known to be causative genes of Walker-Warburg syndrome, a congenital muscular dystrophy.

Keyword:

Mannosyltransferases

GGDB Symbol

POMT1 Alias

Designation

protein O-mannosyl-transferase

Organism

Homo sapiens

GeneID

10585

HGNC

POMT1 (9202)

mRNA

NM_007171

map

9q34.1

Protein

NP_009102

EC#

2.4.1.109

CAZy

GT39

GlyCosmos Glycogenes

POMT1

OMIM

607423

Disease name

GDGDB

Human Protein Atlas

ENSG00000130714

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Orthologous Gene

Mus musculus

mRNA	NM_145145
Protein	NP_660127
MGI	66434

Rattus norvegicus

mRNA	NM_053406
Protein	NP_445858

Drosophila melanogaster

mRNA	NM_079301
Protein	NP_524025

Saccharomyces cerevisiae

mRNA	NC_001136.6
Protein	NP_010188

Acceptor Substrates (Reference)

Proc. Natl. Acad. Sci. U.S.A. 1999-06-01 ;58(2):171-80.

Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.

Jurado LA. et al. PMID:10366449

Genomics 2002-11-01 ;71(5):1033-43.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

Beltrán-Valero de Bernabé D. et al. PMID:12369018

Am. J. Hum. Genet. 2004-01-01 ;101(2):500-5.

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.

Manya H. et al. PMID:14699049

Acceptor Substrates (KEM-C)

Expression

RNA Expression from Human Protein Atlas

This RNA expression data uses "HPA data" from the Human Protein Atlas. Tissue RNA Expression

data available from v22.proteinatlas.org

Expression (Reference)

Proc. Natl. Acad. Sci. U.S.A. 1999-06-01 ;58(2):171-80.

Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.

Jurado LA. et al. PMID:10366449

brainheartkidneyliverlungpancreasplacentaskeletal muscle

Gene Ontology

Provided by GOA

Function
dolichyl-phosphate-mannose-protein mannosyltransferase activity
mannosyltransferase activity
metal ion binding

Process
carbohydrate metabolic process
cell wall mannoprotein biosynthetic process
chain elongation of O-linked mannose residue
extracellular matrix organization
multicellular organism development
protein O-linked glycosylation
protein O-linked mannosylation
regulation of endoplasmic reticulum unfolded protein response

Component
acrosomal vesicle
dolichyl-phosphate-mannose-protein mannosyltransferase complex
endoplasmic reticulum
endoplasmic reticulum membrane
integral component of membrane
sarcoplasmic reticulum

This page does not indicate all of the enzymatic reaction, and expression of "POMT1".