KEGG   Homo sapiens (human): 10329
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)
SSDB
Motif
Pfam: RXYLT1_C RXYLT1_N Exostosin_GT47
Other DBs
NCBI-GeneID: 10329
NCBI-ProteinID: NP_055069
OMIM: 605862
HGNC: 13530
Ensembl: ENSG00000118600
UniProt: Q9Y2B1
Position
12:63779909..63809562
AA seq 443 aa
MRLTRKRLCSFLIALYCLFSLYAAYHVFFGRRRQAPAGSPRGLRKGAAPARERRGREQST
LESEEWNPWEGDEKNEQQHRFKTSLQILDKSTKGKTDLSVQIWGKAAIGLYLWEHIFEGL
LDPSDVTAQWREGKSIVGRTQYSFITGPAVIPGYFSVDVNNVVLILNGREKAKIFYATQW
LLYAQNLVQIQKLQHLAVVLLGNEHCDNEWINPFLKRNGGFVELLFIIYDSPWINDVDVF
QWPLGVATYRNFPVVEASWSMLHDERPYLCNFLGTIYENSSRQALMNILKKDGNDKLCWV
SAREHWQPQETNESLKNYQDALLQSDLTLCPVGVNTECYRIYEACSYGSIPVVEDVMTAG
NCGNTSVHHGAPLQLLKSMGAPFIFIKNWKELPAVLEKEKTIILQEKIERRKMLLQWYQH
FKTELKMKFTNILESSFLMNNKS
NT seq 1332 nt   +upstreamnt  +downstreamnt
atgcggctgacgcggaagcggctctgctcgtttcttatcgccctgtactgcctattctcc
ctctacgctgcctaccacgtcttcttcgggcgccgccgccaggcgccggccgggtccccg
cggggcctcaggaagggggcggcccccgcgcgggagagacgcggccgagaacagtccact
ttggaaagtgaagaatggaatccttgggaaggagatgaaaaaaatgagcaacaacacaga
tttaaaactagccttcaaatattagataaatccacgaaaggaaaaacagatctcagtgta
caaatctggggcaaagctgccattggcttgtatctctgggagcatatttttgaaggctta
cttgatcccagcgatgtgactgctcaatggagagaaggaaagtcaatcgtaggaagaaca
cagtacagcttcatcactggtccagctgtaataccagggtacttctccgttgatgtgaat
aatgtggtactcattttaaatggaagagaaaaagcaaagatcttttatgccacccagtgg
ttactttatgcacaaaatttagtgcaaattcaaaaactccagcatcttgctgttgttttg
ctcggaaatgaacattgtgataatgagtggataaacccattcctcaaaagaaatggaggc
ttcgtggagctgcttttcataatatatgacagcccctggattaatgacgtggatgttttt
cagtggcctttaggagtagcaacatacaggaattttcctgtggtggaggcaagttggtca
atgctgcatgatgagaggccatatttatgtaatttcttaggaacgatttatgaaaattca
tccagacaggcactaatgaacattttgaaaaaagatgggaacgataagctttgttgggtt
tcagcaagagaacactggcagcctcaggaaacaaatgaaagtcttaagaattaccaagat
gccttgcttcagagtgatctcacattgtgcccggtcggagtaaacacagaatgctatcga
atctatgaggcttgctcctatggctccattcctgtggtggaagacgtgatgacagctggc
aactgtgggaatacatctgtgcaccacggtgctcctctgcagttactcaagtccatgggt
gctccctttatctttatcaagaactggaaggaactccctgctgttttagaaaaagagaaa
actataattttacaagaaaaaattgaaagaagaaaaatgttacttcagtggtatcagcac
ttcaagacagagcttaaaatgaaatttactaatattttagaaagctcatttttaatgaat
aataaaagttaa

  All links  
Disease (2)   
   OMIM (2)   
Gene (12)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (8)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (24)   
   RefSeq(nuc) (6)   
   GenBank (9)   
   EMBL (9)   
Protein domain (3)   
   Pfam (3)   
All databases (49)   

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