| Entry |
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| Gene name |
POMT1, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
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| Definition |
protein-O-mannosyltransferase 1 (EC:2.4.1.109)
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| Orthology |
| dolichyl-phosphate-mannose-protein mannosyltransferase [EC: 2.4.1.109] |
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| Organism |
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| Pathway |
| Other types of O-glycan biosynthesis |
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| Disease |
| Dystroglycanopathy | | Congenital muscular dystrophies (CMD/MDC) | | Limb-girdle muscular dystrophy (LGMD) |
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| Class |
Metabolism; Glycan biosynthesis and metabolism; Other types of O-glycan biosynthesis [PATH: hsa00514]
 |
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Position |
9q34.1
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| AA seq |
725 aa  
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFF
LDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAY
QIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHS
PFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVCVFCHL
LARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVA
FGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPR
RHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQN
LWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGY
HGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDDSE
HKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRR
RNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQ
HISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDI
LIRKH |
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| NT seq |
2178 nt  +upstreamnt +downstreamnt
atgtggggatttttgaagcgccctgtagtggtgacggctgacatcaacttgagccttgtg
gccctgactgggatggggttactgagccggctgtggcgactcacctacccgcgggctgtg
gtttttgacgaagtatattatgggcagtacatctctttttacatgaaacaaatcttcttc
ttggatgacagtgggccgccatttggccacatggtgctggccttgggaggttatttagga
ggattcgatggcaattttttgtggaacagaattggagcagaatacagtagcaacgtgcct
gtgtggtccctgcgcctgctgccagcactcgcgggggccttgtcggtccccatggcctac
cagatagtgttggagctccacttttctcattgtgccgccatgggagctgctctgttgatg
cttatcgagaatgctctcatcactcagtcaaggctaatgcttttggaatcagtgttaata
tttttcaatctattggccgtgttgtcctacctgaagttcttcaactgccaaaagcacagc
cctttttctctgagctggtggttctggctaacactgacaggggtcgcttgttcctgtgca
gtgggcatcaagtacatgggtgtgttcacgtacgtgctcgtgctgggtgttgcagctgtc
catgcctggcacctgcttggagaccagactttgtccaatgtctgtgtgttctgtcacttg
ctcgcccgagcagtggctttgctggtcatcccggtcgtcctgtacttactgttcttctac
gtccacttgattctagtcttccgctctgggccccacgaccaaatcatgtccagtgccttc
caggccagcttagagggaggactagctcggatcacccagggtcagccactggaggtggcc
tttgggtcccaggtcactctgaggaacgtctttgggaaacctgtgccctgctggcttcat
tcccaccaggacacctaccccatgatatatgagaacggccgaggcagctcccaccagcaa
caggtgacctgttaccccttcaaagacgtcaataactggtggattgtaaaggatcccagg
aggcaccagctggtggtgagcagccctccgagacctgtgaggcacggggacatggtgcag
ctggtccacggcatgaccacccgctccctgaacacgcatgatgttgcagcccccctgagc
ccccattcacaggaggtctcctgctacattgactataacatctccatgcccgcccagaac
ctctggagactggaaattgtgaacagaggatctgacacagacgtctggaagaccatcctc
tcagaggtccgctttgtgcacgtgaacacttccgctgtcttaaagctgagcggggctcac
ctccctgactgggggtatcggcaactggagatcgtcggggagaagctgtcccggggctac
cacgggagcacggtgtggaacgtggaggagcaccgatacggcgcgagccaggagcagagg
gagcgggaacgggagctgcactcacctgcgcaggtggacgtcagcaggaacctcagcttc
atggcgagattctcggagctgcagtggaggatgctggcgctgagaagtgatgactcggaa
cacaagtacagctccagcccactggagtgggtcaccctggacaccaatattgcctactgg
ctgcaccccaggaccagcgctcagatccacctacttggaaacatagtgatctgggtttcg
ggcagcctcgctctggccatctacgccctgctgtccttgtggtacctgctccgacggcga
agaaatgtccatgacctccctcaggatgcctggctgcgctgggtgctggctggggcgctg
tgtgccggtggctgggcagtgaactacctcccgttcttcctgatggagaagacactcttc
ctctaccactacctgcccgcactcaccttccaaatccttctgctccctgtggtcctgcag
cacatcagcgaccacctgtgcaggtcccagctccagaggagcatcttcagcgccctggtg
gtggcctggtactcctccgcgtgccacgtgtccaacacgctgcgcccactcacctacggg
gacaagtcactctcgccacatgaactcaaggcccttcgctggaaagacagctgggacatc
ttgatccgaaaacactag |
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