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protein O-mannosyl-transferase 1; dolichyl-phosphate-mannose-protein mannosyltransferase 1 (POMT1)
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 POMT2 (probable)
dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein
Cofactor:
- Mg+2
- Mn+2 & Ca+2 suppress enzyme activity
Structure:
- belongs to the glycosyltransferase 39 family
- contains 3 MIR domains
Compartment:
- endoplasmic reticulum membrane
- multi-pass membrane protein
Alternative splicing:
- named isoforms=4
- additional isoforms seem to exist
Expression:
- widely expressed
- highly expressed in testis, heart & pancreas
- detected at lower levels in kidney, skeletal muscle, brain, placenta, lung & liver
Pathology:
- mutations in POMT1 gene associated with variations in the Walker-Warburg syndrome
Related
dolichol phosphate
Walker-Warburg syndrome; hydrocephalus, agyria & retinal dysplasia; Hard syndrome; Chemke syndrome; Pagon syndrome; cerebroocular dysplasia-muscular dystrophy syndrome
General
glycoprotein
glycosyltransferase
transmembrane 12 protein
Properties
SIZE: entity length = 747 aa
MW = 85 kD
COMPARTMENT: endoplasmic reticulum
MOTIF: transmembrane domain {8-28}
transmembrane domain {40-60}
transmembrane domain {68-88}
transmembrane domain {99-119}
transmembrane domain {122-142}
transmembrane domain {154-174}
transmembrane domain {183-203}
transmembrane domain {206-226}
transmembrane domain {269-289}
MIR 1 {318-381}
MIR 2 {392-449}
MOTIF: N-glycosylation site {N435}
MIR 3 {453-513}
MOTIF: N-glycosylation site {N471}
N-glycosylation site {N539}
transmembrane domain {597-617}
transmembrane domain {636-656}
transmembrane domain {661-681}
Database Correlations
OMIM correlations
MORBIDMAP 607423
UniProt Q9Y6A1
PFAM correlations
Entrez Gene 10585
Kegg hsa:10585
ENZYME 2.4.1.10
References
- UniProt :accession Q9Y6A1
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/POMT1
- GGDB; Note: glycogene database
http://riodb.ibase.aist.go.jp/rcmg/ggdb/