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Sequence in raw or FASTA format:

Database:

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POMT1 protein-O-mannosyltransferase 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001077365 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15
NM_001077366 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15
NM_001136113 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 4, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15
NM_001136114 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 5, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15
NM_007171 Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005272156 PREDICTED: Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005272158 PREDICTED: Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005272159 PREDICTED: Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005272162 PREDICTED: Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_006716932 PREDICTED: Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol POMT1
Entrez Gene ID 10585
Full Name protein-O-mannosyltransferase 1
Synonyms LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
General protein information
Preferred Names
protein O-mannosyl-transferase 1
Names
protein O-mannosyl-transferase 1
dolichyl-phosphate-mannose-protein mannosyltransferase
dolichyl-phosphate-mannose--protein mannosyltransferase 1
NP_001070833.1
NP_001070834.1
NP_001129585.1
NP_001129586.1
NP_009102.3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q34.1

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].
Disorder

MIM: 607423

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

mRNA Protein Product Sequence Price Select
NM_001077365, 116517316 NP_001070833, 116517317 protein O-mannosyl-transferase 1 isoform b ORF Sequence $490.00
NM_001077366, 116517314 NP_001070834, 116517315 protein O-mannosyl-transferase 1 isoform c ORF Sequence $490.00
NM_001136113, 209870081 NP_001129585, 209870082 protein O-mannosyl-transferase 1 isoform b ORF Sequence $490.00
NM_001136114, 209870083 NP_001129586, 209870084 protein O-mannosyl-transferase 1 isoform d ORF Sequence $490.00
NM_007171, 116517318 NP_009102, 116517319 protein O-mannosyl-transferase 1 isoform a ORF Sequence $700.00
XM_005272156, 530427087 XP_005272213, 530427088 protein O-mannosyl-transferase 1 isoform X1 ORF Sequence $700.00
XM_005272158, 530427091 XP_005272215, 530427092 protein O-mannosyl-transferase 1 isoform X3 ORF Sequence $700.00
XM_005272159, 530427093 XP_005272216, 530427094 protein O-mannosyl-transferase 1 isoform X4 ORF Sequence $700.00
XM_005272162, 530427099 XP_005272219, 530427100 protein O-mannosyl-transferase 1 isoform X7 ORF Sequence $400.00
XM_006716932, 578816995 XP_006716995, 578816996 protein O-mannosyl-transferase 1 isoform X8 ORF Sequence $700.00
KEGG
hsa00514Other types of O-glycan biosynthesis
Homo sapiens (human)POMT1NP_009102.3
Pan troglodytes (chimpanzee)POMT1NP_001233574.1
Macaca mulatta (Rhesus monkey)POMT1XP_002799997.1
Canis lupus familiaris (dog)POMT1XP_849854.1
Bos taurus (cattle)POMT1NP_001073799.1
Mus musculus (house mouse)Pomt1NP_660127.1
Rattus norvegicus (Norway rat)Pomt1NP_445858.1
Gallus gallus (chicken)POMT1NP_001025856.1
Danio rerio (zebrafish)pomt1NP_001041532.2
Drosophila melanogaster (fruit fly)rtNP_524025.2
Xenopus (Silurana) tropicalis (western clawed frog)pomt1NP_001006756.1
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processTAS
GO:0006493protein O-linked glycosylationTAS
GO:0007275multicellular organismal developmentTAS
GO:0030198extracellular matrix organizationIEA
GO:0035269protein O-linked mannosylationIEA
GO:0097502mannosylationTAS
Component
IDNameEvidence
GO:0001669acrosomal vesicleIEA
GO:0005783endoplasmic reticulumTAS
GO:0005789endoplasmic reticulum membraneIDA
GO:0016021integral component of membraneIEA
GO:0016529sarcoplasmic reticulumIEA
Function
IDNameEvidence
GO:0000030mannosyltransferase activityTAS
GO:0004169dolichyl-phosphate-mannose-protein mannosyltransferase activityIEA
GO:0046872metal ion bindingIEA
GeneCards POMT1
UniProt Q9Y6A1
Vega OTTHUMG00000020826
MIM 607423
Ensembl ENSG00000130714
HGNC 9202
HPRD 06305

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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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