InnateDB Protein
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IDBP-89968.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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POMT1
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Protein Name
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protein-O-mannosyltransferase 1
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Synonyms
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LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000343034
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InnateDB Gene
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IDBG-89966 (POMT1)
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Protein Structure
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Function |
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. {ECO:0000269PubMed:12369018, ECO:0000269PubMed:14699049}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000269PubMed:14699049}; Multi-pass membrane protein {ECO:0000269PubMed:14699049}.
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Disease Associations |
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. {ECO:0000269PubMed:16575835, ECO:0000269PubMed:16717220, ECO:0000269PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269PubMed:12369018, ECO:0000269PubMed:15037715, ECO:0000269PubMed:15637732, ECO:0000269PubMed:16575835}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308]: An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha- dystroglycan pattern in observed in the muscle. {ECO:0000269PubMed:15792865}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0000030
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mannosyltransferase activity
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GO:0004169
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dolichyl-phosphate-mannose-protein mannosyltransferase activity
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GO:0046872
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metal ion binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003342
Glycosyl transferase, family 39
IPR016093
MIR motif
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PFAM |
PF02366
PF02815
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PRINTS |
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PIRSF |
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SMART |
SM00472
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y6A1
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PhosphoSite |
PhosphoSite-Q9Y6A1
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TrEMBL |
Q5JT05
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UniProt Splice Variant |
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Entrez Gene |
10585
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UniGene |
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RefSeq |
NP_001070834
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HUGO |
HGNC:9202
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OMIM |
607423
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CCDS |
CCDS43895
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HPRD |
06305
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IMGT |
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EMBL |
AF095136
AF095138
AF095139
AF095140
AF095141
AF095142
AF095143
AF095144
AF095145
AF095146
AF095147
AF095148
AF095149
AF095150
AK000391
AK000475
AK074874
AK074888
AK295561
AL358781
BC022877
BC065268
CH471090
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GenPept |
AAD41245
AAD41246
AAH22877
AAH65268
BAA91135
BAA91190
BAC11269
BAG52022
BAG58462
CAI40220
CAI40221
CAI40223
EAW87978
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