Homo sapiens (human): 2218
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Entry
2218 CDS
T01001
Symbol
FKTN, CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4
Name
(RefSeq) fukutin
KO
K19872
fukutin [EC:2.7.8.-]
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
H00294
Dilated cardiomyopathy
H00593
Limb-girdle muscular dystrophy
H01957
Fukuyama congenital muscular dystrophy
H01959
Muscular dystrophy-dystroglycanopathy type C
H01960
Muscular dystrophy-dystroglycanopathy type B
H02307
Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00515 Mannose type O-glycan biosynthesis
2218 (FKTN)
09180 Brite Hierarchies
09181 Protein families: metabolism
01003 Glycosyltransferases [BR:
hsa01003
]
2218 (FKTN)
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
2218 (FKTN)
Glycosyltransferases [BR:
hsa01003
]
Glycan extension
O-Glycan
2218 (FKTN)
Membrane trafficking [BR:
hsa04131
]
Endoplasmic reticulum (ER) - Golgi transport
Others
Others
2218 (FKTN)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
FKTN_N
LicD
DUF1574
Motif
Other DBs
NCBI-GeneID:
2218
NCBI-ProteinID:
NP_001073270
OMIM:
607440
HGNC:
3622
Ensembl:
ENSG00000106692
UniProt:
O75072
LinkDB
All DBs
Position
9:105558130..105641118
Genome browser
AA seq
461 aa
AA seq
DB search
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKK
FIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLW
KNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERS
GNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSG
TCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGK
DDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIE
ANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY
NT seq
1386 nt
NT seq
+upstream
nt +downstream
nt
atgagtagaatcaataagaacgtggttttggcccttttaacgctgacaagttctgcattt
ctgctgtttcagttgtactactacaagcactatttatcaacaaagaatggagctggtttg
tcaaaatccaaaggaagccgaattggatttgatagcacacagtggcgtgcagttaaaaaa
tttattatgttaacatccaaccaaaatgtaccagtgtttcttattgatcctttgatactg
gaattgattaataagaactttgaacaagtcaaaaatacttctcatggctctacttcacaa
tgcaagtttttctgtgttccaagagactttactgcatttgcactgcagtatcacctatgg
aagaatgaggaaggctggtttcggatagctgagaatatgggatttcagtgcctaaagatt
gagagtaaagatccccggctagacgggatagactcactctctggaactgaaatccccctg
cactatatctgcaaactggccactcatgcgatccacttggtagtctttcatgagaggagt
ggcaactacctctggcacggccacttgagacttaaagaacacattgacaggaaatttgtt
cccttccgaaagttacagtttggtcgttatccaggagcttttgacaggccagagttacag
caagttactgttgatggactggaagttctcattccaaaggatccaatgcactttgtagaa
gaagtaccacactctaggtttattgagtgtaggtataaagaagctcgagcattctttcag
cagtaccttgatgataacactgtggaagctgtggcctttcggaagagtgcaaaggaatta
ctgcaactagcagcgaaaacattaaacaaattgggagtaccattctggctgagcagtgga
acttgtctaggatggtatcgacaatgcaacattattccttatagcaaagatgttgaccta
ggaatttttatacaagattacaaatctgatattattttagcatttcaggatgcaggactt
ccgctcaaacacaaatttgggaaggtagaagacagcttggaactatccttccagggaaaa
gatgatgtaaaacttgatgtttttttcttctatgaagaaactgatcacatgtggaatgga
ggcactcaggccaaaacaggaaaaaaattcaaatacctgtttccgaagtttacactgtgc
tggactgagtttgtagacatgaaggtccatgtaccctgtgaaaccctcgaatacattgaa
gccaactatggtaagacctggaagattcctgtaaagacgtgggactggaagcgctctcct
cccaatgtgcaacccaatggaatctggcctatttctgagtgggatgaggttatccagtta
tattga
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