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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

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Gene Symbol POMT1
Entrez Gene ID 10585
Full Name protein-O-mannosyltransferase 1
Synonyms FLJ37239, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
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
KEGG
hsa00514Other types of O-glycan biosynthesis
Homo sapiens (human)POMT1NP_009102.3
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
GeneCards POMT1
UniProt Q9Y6A1
MIM 607423
Ensembl ENSG00000130714
HGNC 9202
HPRD 06305

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

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

Interactant



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