Sequence in raw or FASTA format:
POMT1 protein-O-mannosyltransferase 1 [Homo sapiens (human)]
|Entrez Gene ID||10585|
|Full Name||protein-O-mannosyltransferase 1|
|Synonyms||LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008].|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye
|hsa00514||Other types of O-glycan biosynthesis|
|Homo sapiens (human)||POMT1||NP_009102.3|
|Pan troglodytes (chimpanzee)||POMT1||NP_001233574.1|
|Macaca mulatta (Rhesus monkey)||POMT1||XP_002799997.1|
|Canis lupus familiaris (dog)||POMT1||XP_849854.1|
|Bos taurus (cattle)||POMT1||NP_001073799.1|
|Mus musculus (house mouse)||Pomt1||NP_660127.1|
|Rattus norvegicus (Norway rat)||Pomt1||NP_445858.1|
|Gallus gallus (chicken)||POMT1||NP_001025856.1|
|Danio rerio (zebrafish)||pomt1||NP_001041532.2|
|Drosophila melanogaster (fruit fly)||rt||NP_524025.2|
|Xenopus (Silurana) tropicalis (western clawed frog)||pomt1||NP_001006756.1|
|GO:0005975||carbohydrate metabolic process||TAS|
|GO:0006493||protein O-linked glycosylation||TAS|
|GO:0007275||multicellular organismal development||TAS|
|GO:0030198||extracellular matrix organization||IEA|
|GO:0035269||protein O-linked mannosylation||IEA|
|GO:0005789||endoplasmic reticulum membrane||IDA|
|GO:0016021||integral component of membrane||IEA|
|GO:0004169||dolichyl-phosphate-mannose-protein mannosyltransferase activity||IEA|
|GO:0046872||metal ion binding||IEA|
What is the normal function of the POMT1 gene?
The POMT1 gene provides instructions for making one piece of the protein O-mannosyltransferase (POMT) enzyme complex. The other piece is produced from the POMT2 gene. This enzyme complex is present in many different tissues in the body but is particularly abundant in skeletal muscles, fetal brain, and testes.
The POMT complex helps modify a protein called alpha (α)-dystroglycan. Specifically, this complex adds a sugar molecule called mannose to α-dystroglycan through a process called glycosylation. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
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