Homo sapiens (human): 9215
Help
Entry
9215 CDS
T01001
Symbol
LARGE1, LARGE, MDC1D, MDDGA6, MDDGB6
Name
(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
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)
Glycosyltransferases [BR:
hsa01003
]
Glycan extension
O-Glycan
9215 (LARGE1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Glyco_transf_49
Glyco_transf_8
Glyco_transf_24
PE-PPE
Motif
Other DBs
NCBI-GeneID:
9215
NCBI-ProteinID:
NP_004728
OMIM:
603590
HGNC:
6511
Ensembl:
ENSG00000133424
Pharos:
O95461
(Tbio)
UniProt:
O95461
X5DR28
Structure
PDB
PDBj
LinkDB
All DBs
Position
22:complement(33066663..33922824)
Genome browser
AA seq
756 aa
AA seq
DB search
MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQR
ERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVA
GNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQ
ILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIV
LDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVI
LLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQL
SDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP
SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQL
SMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQF
YPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETL
RYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPY
VVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSN
KQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS
NT seq
2271 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
