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

Gene name
POMT1, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
Definition
(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
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H00590  Congenital muscular dystrophies (CMD/MDC)
H00593  Limb-girdle muscular dystrophy
H01959  Muscular dystrophy-dystroglycanopathy type C
H01960  Muscular dystrophy-dystroglycanopathy type B
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00515 Mannose type O-glycan biosyntheis
    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 OrthologParalogGFIT
Motif
Pfam: PMT PMT_4TMC MIR
Motif
Other DBs
NCBI-GeneID: 10585
NCBI-ProteinID: NP_009102
OMIM: 607423
HGNC: 9202
Ensembl: ENSG00000130714
Vega: OTTHUMG00000020826
Pharos: Q9Y6A1(Tbio)
UniProt: Q9Y6A1
Position
9q34.13
AA seq 747 aa AA seqDB search
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFF
LDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAY
QIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHS
PFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVGADVQC
CMRPACMGQMRMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSS
AFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSH
QQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAP
LSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSG
AHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNL
SFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIW
VSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKT
LFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLT
YGDKSLSPHELKALRWKDSWDILIRKH
NT seq 2244 nt NT seq  +upstreamnt  +downstreamnt
atgtggggatttttgaagcgccctgtagtggtgacggctgacatcaacttgagccttgtg
gccctgactgggatggggttactgagccggctgtggcgactcacctacccgcgggctgtg
gtttttgacgaagtatattatgggcagtacatctctttttacatgaaacaaatcttcttc
ttggatgacagtgggccgccatttggccacatggtgctggccttgggaggttatttagga
ggattcgatggcaattttttgtggaacagaattggagcagaatacagtagcaacgtgcct
gtgtggtccctgcgcctgctgccagcactcgcgggggccttgtcggtccccatggcctac
cagatagtgttggagctccacttttctcattgtgccgccatgggagctgctctgttgatg
cttatcgagaatgctctcatcactcagtcaaggctaatgcttttggaatcagtgttaata
tttttcaatctattggccgtgttgtcctacctgaagttcttcaactgccaaaagcacagc
cctttttctctgagctggtggttctggctaacactgacaggggtcgcttgttcctgtgca
gtgggcatcaagtacatgggtgtgttcacgtacgtgctcgtgctgggtgttgcagctgtc
catgcctggcacctgcttggagaccagactttgtccaatgtaggtgctgatgtccagtgc
tgcatgaggccggcctgtatggggcagatgcggatgtcacagggggtctgtgtgttctgt
cacttgctcgcccgagcagtggctttgctggtcatcccggtcgtcctgtacttactgttc
ttctacgtccacttgattctagtcttccgctctgggccccacgaccaaatcatgtccagt
gccttccaggccagcttagagggaggactagctcggatcacccagggtcagccactggag
gtggcctttgggtcccaggtcactctgaggaacgtctttgggaaacctgtgccctgctgg
cttcattcccaccaggacacctaccccatgatatatgagaacggccgaggcagctcccac
cagcaacaggtgacctgttaccccttcaaagacgtcaataactggtggattgtaaaggat
cccaggaggcaccagctggtggtgagcagccctccgagacctgtgaggcacggggacatg
gtgcagctggtccacggcatgaccacccgctccctgaacacgcatgatgttgcagccccc
ctgagcccccattcacaggaggtctcctgctacattgactataacatctccatgcccgcc
cagaacctctggagactggaaattgtgaacagaggatctgacacagacgtctggaagacc
atcctctcagaggtccgctttgtgcacgtgaacacttccgctgtcttaaagctgagcggg
gctcacctccctgactgggggtatcggcaactggagatcgtcggggagaagctgtcccgg
ggctaccacgggagcacggtgtggaacgtggaggagcaccgatacggcgcgagccaggag
cagagggagcgggaacgggagctgcactcacctgcgcaggtggacgtcagcaggaacctc
agcttcatggcgagattctcggagctgcagtggaggatgctggcgctgagaagtgatgac
tcggaacacaagtacagctccagcccactggagtgggtcaccctggacaccaatattgcc
tactggctgcaccccaggaccagcgctcagatccacctacttggaaacatagtgatctgg
gtttcgggcagcctcgctctggccatctacgccctgctgtccttgtggtacctgctccga
cggcgaagaaatgtccatgacctccctcaggatgcctggctgcgctgggtgctggctggg
gcgctgtgtgccggtggctgggcagtgaactacctcccgttcttcctgatggagaagaca
ctcttcctctaccactacctgcccgcactcaccttccaaatccttctgctccctgtggtc
ctgcagcacatcagcgaccacctgtgcaggtcccagctccagaggagcatcttcagcgcc
ctggtggtggcctggtactcctccgcgtgccacgtgtccaacacgctgcgcccactcacc
tacggggacaagtcactctcgccacatgaactcaaggcccttcgctggaaagacagctgg
gacatcttgatccgaaaacactag

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