Homo sapiens (human): 10585
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Entry
10585 CDS
T01001
Symbol
POMT1, LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT
Name
(RefSeq) protein O-mannosyltransferase 1
KO
K00728
dolichyl-phosphate-mannose-protein mannosyltransferase [EC:
2.4.1.109
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00514
Other types of O-glycan biosynthesis
hsa00515
Mannose type O-glycan biosynthesis
hsa01100
Metabolic pathways
Module
hsa_M00872
O-glycan biosynthesis, mannose type (core M3)
Network
nt06013
O-Glycan biosynthesis
Element
N00627
Mannose type O-glycan biosynthesis, POMT to POMK
Disease
H00120
Muscular dystrophy-dystroglycanopathy type A
H00593
Limb-girdle muscular dystrophy
H01959
Muscular dystrophy-dystroglycanopathy type C
H01960
Muscular dystrophy-dystroglycanopathy type B
H02307
Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00515 Mannose type O-glycan biosynthesis
10585 (POMT1)
00514 Other types of O-glycan biosynthesis
10585 (POMT1)
09180 Brite Hierarchies
09181 Protein families: metabolism
01003 Glycosyltransferases [BR:
hsa01003
]
10585 (POMT1)
Enzymes [BR:
hsa01000
]
2. Transferases
2.4 Glycosyltransferases
2.4.1 Hexosyltransferases
2.4.1.109 dolichyl-phosphate-mannose---protein mannosyltransferase
10585 (POMT1)
Glycosyltransferases [BR:
hsa01003
]
O-Glycan biosynthesis
O-linked Man type
10585 (POMT1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
PMT
PMT_4TMC
MIR
Motif
Other DBs
NCBI-GeneID:
10585
NCBI-ProteinID:
NP_009102
OMIM:
607423
HGNC:
9202
Ensembl:
ENSG00000130714
Pharos:
Q9Y6A1
(Tbio)
UniProt:
Q9Y6A1
LinkDB
All DBs
Position
9:131502918..131523799
Genome browser
AA seq
747 aa
AA seq
DB search
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFF
LDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAY
QIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHS
PFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVGADVQC
CMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSS
AFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSH
QQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAP
LSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSG
AHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNL
SFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIW
VSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKT
LFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLT
YGDKSLSPHELKALRWKDSWDILIRKH
NT seq
2244 nt
NT seq
+upstream
nt +downstream
nt
atgtggggatttttgaagcgccctgtagtggtgacggctgacatcaacttgagccttgtg
gccctgactgggatggggttactgagccggctgtggcgactcacctacccgcgggctgtg
gtttttgacgaagtatattatgggcagtacatctctttttacatgaaacaaatcttcttc
ttggatgacagtgggccgccatttggccacatggtgctggccttgggaggttatttagga
ggattcgatggcaattttttgtggaacagaattggagcagaatacagtagcaacgtgcct
gtgtggtccctgcgcctgctgccagcactcgcgggggccttgtcggtccccatggcctac
cagatagtgttggagctccacttttctcattgtgccgccatgggagctgctctgttgatg
cttatcgagaatgctctcatcactcagtcaaggctaatgcttttggaatcagtgttaata
tttttcaatctattggccgtgttgtcctacctgaagttcttcaactgccaaaagcacagc
cctttttctctgagctggtggttctggctaacactgacaggggtcgcttgttcctgtgca
gtgggcatcaagtacatgggtgtgttcacgtacgtgctcgtgctgggtgttgcagctgtc
catgcctggcacctgcttggagaccagactttgtccaatgtaggtgctgatgtccagtgc
tgcatgaggccggcctgtatggggcagatgcagatgtcacagggggtctgtgtgttctgt
cacttgctcgcccgagcagtggctttgctggtcatcccggtcgtcctgtacttactgttc
ttctacgtccacttgattctagtcttccgctctgggccccacgaccaaatcatgtccagt
gccttccaggccagcttagagggaggactagctcggatcactcagggtcagccactggag
gtggcctttgggtcccaggtcactctgaggaacgtctttgggaaacctgtgccctgctgg
cttcattcccaccaggacacctaccccatgatatatgagaacggccgaggcagctcccac
cagcaacaggtgacctgttaccccttcaaagatgtcaataactggtggattgtaaaggat
cccaggaggcaccagctggtggtgagcagccctccgagacctgtgaggcacggggacatg
gtgcagctggtccacggcatgaccacccgctccctgaacacgcatgatgttgcagccccc
ctgagcccccattcacaggaggtctcctgctacattgactataacatctccatgcccgcc
cagaacctctggagactggaaattgtgaacagaggatctgacacagacgtctggaagacc
atcctctcagaggtccgctttgtgcacgtgaacacttccgctgtcttaaagctgagcggg
gctcacctccctgactgggggtatcggcaactggagatcgtcggggagaagctgtcccgg
ggctaccacgggagcacggtgtggaacgtggaggagcaccgatacggcgcgagccaggag
cagagggagcgggaacgggagctgcactcacctgcgcaggtggacgtcagcaggaacctc
agcttcatggcgagattctcggagctgcagtggaggatgctggcgctgagaagtgatgac
tcggaacacaagtacagctccagcccactggagtgggtcaccctggacaccaatattgcc
tactggctgcaccccaggaccagcgctcagatccacctacttggaaacatagtgatctgg
gtttcgggcagcctcgctctggccatctacgccctgctgtccttgtggtacctgctccga
cggcgaagaaatgtccatgacctccctcaggatgcctggctgcgctgggtgctggctggg
gcgctgtgtgccggtggctgggcagtgaactacctcccgttcttcctgatggagaagaca
ctcttcctctaccactacctgcccgcactcaccttccaaatccttctgctccctgtggtc
ctgcagcacatcagcgaccacctgtgcaggtcccagctccagaggagcatcttcagcgcc
ctggtggtggcctggtactcctccgcgtgccacgtgtccaacacgctgcgcccactcacc
tacggggacaagtcactctcgccacatgaactcaaggcccttcgctggaaagacagctgg
gacatcttgatccgaaaacactag
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