KEGG   Homo sapiens (human): 9215
Entry
9215              CDS       T01001                                 

Gene name
LARGE1, LARGE, MDC1D, MDDGA6, MDDGB6
Definition
(RefSeq) LARGE xylosyl- and glucuronyltransferase 1
  KO
K09668  glycosyltransferase-like protein LARGE [EC:2.4.2.- 2.4.1.-]
Organism
hsa  Homo sapiens (human)
Pathway
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
N00628  LARGE1 deficiency in mannose type O-glycan biosynthesis
N00699  Mannose type O-glycan biosynthesis, FKTN to LARGE
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H01960  Muscular dystrophy-dystroglycanopathy type B
H01962  Congenital muscular dystrophy type 1D
H02307  Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00515 Mannose type O-glycan biosynthesis
    9215 (LARGE1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    9215 (LARGE1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.-  
     9215 (LARGE1)
   2.4.2  Pentosyltransferases
    2.4.2.-  
     9215 (LARGE1)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  O-Glycan
   9215 (LARGE1)
SSDB
Motif
Pfam: Glyco_transf_49 Glyco_transf_8 Glyco_transf_24
Other DBs
NCBI-GeneID: 9215
NCBI-ProteinID: NP_004728
OMIM: 603590
HGNC: 6511
Ensembl: ENSG00000133424
Vega: OTTHUMG00000150914
Pharos: O95461(Tbio)
UniProt: O95461 X5DR28
Position
22q12.3
AA seq 756 aa
MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQR
ERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVA
GNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQ
ILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIV
LDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVI
LLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQL
SDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP
SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQL
SMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQF
YPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETL
RYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPY
VVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSN
KQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS
NT seq 2271 nt   +upstreamnt  +downstreamnt
atgctgggaatctgcagggggagacggaaattcttggctgcctcgttgagtcttctctgc
atcccagccatcacctggatttacctgttttctgggagcttcgaagatggaaagcccgtg
tctctgtcaccgctggagtcccaggcacacagccccaggtacacggcctccagccagcgg
gagcgcgagagcctggaggtgcgcatgcgcgaggtggaggaggagaaccgcgccctccgc
aggcagctcagcctggcccagggccgagccccatcccatcgccgaggcaaccactccaag
acctactccatggaggagggcactggagacagcgagaaccttcgggctggcatcgtggca
ggcaacagctccgagtgtgggcagcagccggtcgtggagaaatgcgagacaatccacgtt
gctattgtctgcgccggatacaatgccagccgggatgtcgtcaccctggtcaaatccgtc
ctgttccatagacggaaccctctgcacttccaccttattgctgactccattgcggagcag
atcctggccacgctcttccagacctggatggtgcccgctgtgcgtgtggacttctacaat
gcagacgagctcaagtctgaagtttcctggatccccaataaacattactctgggatttat
ggtctgatgaagcttgtcctgaccaagactcttcctgccaacctggagagagtcatcgtc
cttgacacggatatcacctttgccactgacattgcagagctgtgggctgtgttccacaag
ttcaaaggtcagcaagtcctgggcttggtggagaaccagagtgactggtaccttggaaac
ctgtggaaaaatcaccgcccatggccagcccttggaagaggctacaacacaggggtgatc
ctgttacttctggataagctgcggaagatgaaatgggagcagatgtggaggctgaccgca
gagagggagctcatgggcatgctctctacatccttagctgaccaggatattttcaatgcc
gtcatcaaacaaaaccccttccttgtgtaccagctcccctgcttctggaatgtgcagctg
tcagaccacacccgctccgagcagtgctacagagacgtgtctgatctaaaggtcattcac
tggaactcccccaagaagctccgggtgaagaacaagcatgtggagttttttcgcaacctc
tacctgaccttcctggagtatgacggcaatcttctgaggcgggaactgtttggctgcccc
agtgaggctgatgtcaacagtgaaaacctccagaagcagctgtctgagctggacgaggac
gacctgtgctatgagttccggcgagagcgcttcactgtccaccgcacccacctgtacttc
ctgcactacgagtatgagcctgcagcagacagcacggacgtcaccctggtcgctcagctg
tccatggacaggctccagatgctggaggccatctgcaagcactgggaggggcccatcagc
ctggccctctacctgtcagacgccgaggcccagcagttcctccgctacgcacagggctct
gaggtgcttatgagccgccacaacgtgggctaccacatcgtgtacaaggagggccagttc
taccccgtgaacctgctgcgcaacgtggccatgaagcacatcagcactccctacatgttc
ctgtctgacattgacttcctgcccatgtatgggctctatgagtacctcaggaagtctgtc
atccagctcgatcttgccaacaccaagaaagcaatgattgtccccgcgttcgagacactg
cgctaccggctgtccttccccaagtcaaaagcggagttgctgtcaatgctggacatgggg
accctcttcacattcaggtaccacgtctggacgaaaggccacgcacccacaaacttcgcc
aagtggcggaccgccaccacgccttaccgggttgagtgggaggccgattttgagccgtat
gttgttgtgagacgtgactgcccggagtacgaccggaggtttgtaggctttggctggaac
aaagtggctcatatcatggagctggatgtgcaggagtatgagttcattgtgctgcccaac
gcctacatgatccacatgcctcatgcccccagcttcgacattaccaagttccgttccaac
aagcaataccgcatctgtctcaaaaccctcaaggaagagtttcagcaggacatgtcccgc
cgctacggctttgctgccctgaaatatctcacagccgagaacaacagctag

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