KEGG   Homo sapiens (human): 10585Help
Entry
10585             CDS       T01001                                 

Gene name
POMT1, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
Definition
protein-O-mannosyltransferase 1 (EC:2.4.1.109)
Orthology
K00728  
dolichyl-phosphate-mannose-protein mannosyltransferase [EC:2.4.1.109]
Organism
hsa  Homo sapiens (human)
Pathway
Other types of O-glycan biosynthesis
Disease
H00120  
Dystroglycanopathy
H00590  
Congenital muscular dystrophies (CMD/MDC)
H00593  
Limb-girdle muscular dystrophy (LGMD)
Class
Metabolism; Glycan biosynthesis and metabolism; Other types of O-glycan biosynthesis [PATH:hsa00514]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
9q34.1
AA seq 725 aa AA seqDB search
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFF
LDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAY
QIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHS
PFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVCVFCHL
LARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVA
FGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPR
RHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQN
LWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGY
HGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDDSE
HKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRR
RNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQ
HISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDI
LIRKH
NT seq 2178 nt NT seq  +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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