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protein O-mannosyl-transferase 2; dolichyl-phosphate-mannose-protein mannosyltransferase 2 (POMT2)
Function:
- transfers mannosyl residues to the hydroxyl group of Ser or Thr
- coexpression of both POMT1 & POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient
- protein modification; protein glycosylation
- interacts with POMT1 (probable)
dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein
Cofactor:
- Mg+2
- Mn+2 & Ca+2 suppress enzyme activity
Structure:
- N-glycosylated
- belongs to the glycosyltransferase 39 family
- contains 3 MIR domains
Compartment:
- endoplasmic reticulum membrane
- multi-pass membrane protein
Alternative splicing:
- named isoforms=2
- at least one isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay
Expression:
- highly expressed in testis
- detected at low levels in most tissues
Pathology:
- defects in the POMT2 gene associated with variations in the Walker-Warburg syndrome
- defects in POMT2 are the cause of limb-girdle muscular dystrophy type 2N
Related
dolichol phosphate
General
glycoprotein
glycosyltransferase
transmembrane 10 protein
Properties
SIZE: entity length = 750 aa
MW = 84 kD
COMPARTMENT: endoplasmic reticulum
MOTIF: transmembrane domain {54-74}
N-glycosylation site {N98}
transmembrane domain {100-120}
transmembrane domain {146-166}
transmembrane domain {191-211}
transmembrane domain {231-251}
transmembrane domain {283-303}
N-glycosylation site {N330}
MIR 1 {334-390}
MIR 2 {403-459}
MOTIF: N-glycosylation site {N445}
MIR 3 {464-521}
N-glycosylation site {N528}
N-glycosylation site {N583}
transmembrane domain {596-616}
transmembrane domain {643-663}
transmembrane domain {665-685}
transmembrane domain {700-720}
Database Correlations
OMIM correlations
MORBIDMAP 607439
UniProt Q9UKY4
PFAM correlations
Entrez Gene 29954
Kegg hsa:29954
ENZYME 2.4.1.109
References
- UniProt :accession Q9UKY4
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/POMT2
- GGDB; Note: glycogene database
http://riodb.ibase.aist.go.jp/rcmg/ggdb/