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Protein Page:
POMT1 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
POMT1 Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B1 (MDDGB1); also called muscular dystrophy congenital POMT1-related. MDDGB1 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1); also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. MDDGA1 is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C1 (MDDGC1); also called autosomal recessive limb-girdle muscular dystrophy with mental retardation. MDDGC1 is a novel form of recessive limb girdle muscular dystrophy with mild mental retardation without any obvious structural brain abnormality, associated with an abnormal alpha-dystroglycan pattern in the muscle. MDDGC1 is a significantly milder allelic form of WWS. Belongs to the glycosyltransferase 39 family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 2.4.1.109; Glycan Metabolism - O-mannosyl glycan biosynthesis; Membrane protein, multi-pass; Transferase; Membrane protein, integral
Cellular Component: endoplasmic reticulum membrane; sarcoplasmic reticulum; endoplasmic reticulum; acrosome; integral to membrane
Molecular Function: mannosyltransferase activity; metal ion binding; dolichyl-phosphate-mannose-protein mannosyltransferase activity
Biological Process: protein amino acid O-linked glycosylation; extracellular matrix organization and biogenesis; protein amino acid O-linked mannosylation; multicellular organismal development; carbohydrate metabolic process
Reference #:  Q9Y6A1 (UniProtKB)
Alt. Names/Synonyms: Dolichyl-phosphate-mannose--protein mannosyltransferase 1; FLJ37239; LGMD2K; POMT1; Protein O-mannosyl-transferase 1; protein-O-mannosyltransferase 1; RT
Gene Symbols: POMT1
Molecular weight: 84,881 Da
Basal Isoelectric point: 8.69  Predict pI for various phosphorylation states
Select Structure to View Below

POMT1

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 T12-p LKRPVVVtADINLsL
0 1 S18-p VtADINLsLVALTGM
0 1 K379-ub VNNWWIVkDPRRHQL
0 1 S479-p TSAVLKLsGAHLPDW
0 1 Y488-p AHLPDWGyRQLEIVG
0 1 Y581-p TLDTNIAyWLHPRTS
  mouse

 
T34 LKRPLVVTVDINLNL
N40 VTVDINLNLVALTGL
K379 INNWWIVKDPGRHQL
S479 TSAILKLSGAHLPDW
F488 AHLPDWGFRQLEVVG
Y581 TLDTNIAYWLHPRTS
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