Homo sapiens (human): 10329
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Entry
10329 CDS
T01001
Symbol
RXYLT1, HP10481, MDDGA10, TMEM5
Name
(RefSeq) ribitol xylosyltransferase 1
KO
K21052
alpha-dystroglycan beta1,4-xylosyltransferase [EC:
2.4.2.61
]
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
H02307
Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00515 Mannose type O-glycan biosynthesis
10329 (RXYLT1)
09180 Brite Hierarchies
09181 Protein families: metabolism
01003 Glycosyltransferases [BR:
hsa01003
]
10329 (RXYLT1)
Enzymes [BR:
hsa01000
]
2. Transferases
2.4 Glycosyltransferases
2.4.2 Pentosyltransferases
2.4.2.61 alpha-dystroglycan beta1,4-xylosyltransferase
10329 (RXYLT1)
Glycosyltransferases [BR:
hsa01003
]
Glycan extension
O-Glycan
10329 (RXYLT1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Exostosin
Motif
Other DBs
NCBI-GeneID:
10329
NCBI-ProteinID:
NP_055069
OMIM:
605862
HGNC:
13530
Ensembl:
ENSG00000118600
UniProt:
Q9Y2B1
LinkDB
All DBs
Position
12:63779909..63809562
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AA seq
443 aa
AA seq
DB search
MRLTRKRLCSFLIALYCLFSLYAAYHVFFGRRRQAPAGSPRGLRKGAAPARERRGREQST
LESEEWNPWEGDEKNEQQHRFKTSLQILDKSTKGKTDLSVQIWGKAAIGLYLWEHIFEGL
LDPSDVTAQWREGKSIVGRTQYSFITGPAVIPGYFSVDVNNVVLILNGREKAKIFYATQW
LLYAQNLVQIQKLQHLAVVLLGNEHCDNEWINPFLKRNGGFVELLFIIYDSPWINDVDVF
QWPLGVATYRNFPVVEASWSMLHDERPYLCNFLGTIYENSSRQALMNILKKDGNDKLCWV
SAREHWQPQETNESLKNYQDALLQSDLTLCPVGVNTECYRIYEACSYGSIPVVEDVMTAG
NCGNTSVHHGAPLQLLKSMGAPFIFIKNWKELPAVLEKEKTIILQEKIERRKMLLQWYQH
FKTELKMKFTNILESSFLMNNKS
NT seq
1332 nt
NT seq
+upstream
nt +downstream
nt
atgcggctgacgcggaagcggctctgctcgtttcttatcgccctgtactgcctattctcc
ctctacgctgcctaccacgtcttcttcgggcgccgccgccaggcgccggccgggtccccg
cggggcctcaggaagggggcggcccccgcgcgggagagacgcggccgagaacagtccact
ttggaaagtgaagaatggaatccttgggaaggagatgaaaaaaatgagcaacaacacaga
tttaaaactagccttcaaatattagataaatccacgaaaggaaaaacagatctcagtgta
caaatctggggcaaagctgccattggcttgtatctctgggagcatatttttgaaggctta
cttgatcccagcgatgtgactgctcaatggagagaaggaaagtcaatcgtaggaagaaca
cagtacagcttcatcactggtccagctgtaataccagggtacttctccgttgatgtgaat
aatgtggtactcattttaaatggaagagaaaaagcaaagatcttttatgccacccagtgg
ttactttatgcacaaaatttagtgcaaattcaaaaactccagcatcttgctgttgttttg
ctcggaaatgaacattgtgataatgagtggataaacccattcctcaaaagaaatggaggc
ttcgtggagctgcttttcataatatatgacagcccctggattaatgacgtggatgttttt
cagtggcctttaggagtagcaacatacaggaattttcctgtggtggaggcaagttggtca
atgctgcatgatgagaggccatatttatgtaatttcttaggaacgatttatgaaaattca
tccagacaggcactaatgaacattttgaaaaaagatgggaacgataagctttgttgggtt
tcagcaagagaacactggcagcctcaggaaacaaatgaaagtcttaagaattaccaagat
gccttgcttcagagtgatctcacattgtgcccggtcggagtaaacacagaatgctatcga
atctatgaggcttgctcctatggctccattcctgtggtggaagacgtgatgacagctggc
aactgtgggaatacatctgtgcaccacggtgctcctctgcagttactcaagtccatgggt
gctccctttatctttatcaagaactggaaggaactccctgctgttttagaaaaagagaaa
actataattttacaagaaaaaattgaaagaagaaaaatgttacttcagtggtatcagcac
ttcaagacagagcttaaaatgaaatttactaatattttagaaagctcatttttaatgaat
aataaaagttaa
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