Homo sapiens (human): 79147
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Entry
79147 CDS
T01001
Symbol
FKRP, FKTR, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5
Name
(RefSeq) fukutin related protein
KO
K19873
fukutin-related protein [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
H00593
Limb-girdle muscular dystrophy
H01959
Muscular dystrophy-dystroglycanopathy type C
H01960
Muscular dystrophy-dystroglycanopathy type B
H01961
Congenital muscular dystrophy type 1C
H02307
Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00515 Mannose type O-glycan biosynthesis
79147 (FKRP)
09180 Brite Hierarchies
09181 Protein families: metabolism
01003 Glycosyltransferases [BR:
hsa01003
]
79147 (FKRP)
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
79147 (FKRP)
Glycosyltransferases [BR:
hsa01003
]
Glycan extension
O-Glycan
79147 (FKRP)
Membrane trafficking [BR:
hsa04131
]
Endoplasmic reticulum (ER) - Golgi transport
Others
Others
79147 (FKRP)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
FKRP_N
LicD
Motif
Other DBs
NCBI-GeneID:
79147
NCBI-ProteinID:
NP_001034974
OMIM:
606596
HGNC:
17997
Ensembl:
ENSG00000181027
UniProt:
Q9H9S5
Structure
PDB
LinkDB
All DBs
Position
19:46744760..46758575
Genome browser
AA seq
495 aa
AA seq
DB search
MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASAAGPRVTVLVREFEAFD
NAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETY
VATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPVATANPARCLALNVSLREWTA
RYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPVGTSLFLQTALRGWAVQLLDLTF
AAARQPPLATAHARWKAEREGRARRAALLRALGIRLVSWEGGRLEWFGCNKETTRCFGTV
VGDTPAYLYEERWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWD
YDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPF
YPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFVAQAPNNYRRFLELKFGPGVIEN
PQYPNPALLSLTGSG
NT seq
1488 nt
NT seq
+upstream
nt +downstream
nt
atgcggctcacccgctgccaggctgccctggcggccgccatcaccctcaaccttctggtc
ctcttctatgtctcgtggctgcagcaccagcctaggaattcccgggcccgggggccccgt
cgtgcctctgctgccggcccccgtgtcaccgtcctggtgcgggagttcgaggcatttgac
aacgcggtgcccgagctggtagactccttcctgcagcaagacccagcccagcccgtggtg
gtggcagccgacacgctcccctacccgcccctggccctgccccgcatccccaacgtgcgt
ctggcgctgctccagcccgccctggaccggccagccgcagcctcgcgcccggagacctac
gtggccaccgagtttgtggccctagtacctgatggggcgcgggctgaggcacctggcctg
ctggagcgcatggtggaggcgctccgcgcaggaagcgcacgtctggtggccgccccggtt
gccacggccaaccctgccaggtgcctggccctgaacgtcagcctgcgagagtggaccgcc
cgctatggcgcagcccccgccgcgccccgctgcgacgccctggacggagatgctgtggtg
ctcctgcgcgcccgcgacctcttcaacctctcggcgcccctggcccggccggtgggcacc
agcctctttctgcagaccgcccttcgcggctgggcggtgcagctgctggacttgaccttc
gccgcggcgcgccagcccccgctggccacggcccacgcgcgctggaaggctgagcgcgag
ggacgcgctcggcgggcggcgctgctccgcgcgctgggcatccgcctagtgagctgggaa
ggcgggcggctggagtggttcggctgcaacaaggagaccacgcgctgcttcggaaccgtg
gtgggcgacacgcccgcctacctctacgaggagcgctggacgcccccctgctgcctgcgc
gcgctgcgcgagaccgcccgctatgtggtgggcgtgctggaggctgcgggcgtgcgctac
tggctcgagggcggctcactgctgggggccgcccgccacggggacatcatcccatgggac
tacgacgtggacctgggcatctacttggaggacgtgggcaactgcgagcagctgcggggg
gcagaggccggctcggtggtggatgagcgcggcttcgtatgggagaaggcggtcgagggc
gactttttccgcgtgcagtacagcgaaagcaaccacttgcacgtggacctgtggcccttc
tacccccgcaatggcgtcatgaccaaggacacgtggctggaccaccggcaggatgtggag
tttcccgagcacttcctgcagccgctggtgcccctgccctttgccggcttcgtggcgcag
gcgcctaacaactaccgccgcttcctggagctcaagttcgggcccggggtcatcgagaac
ccccagtaccccaacccggcactgctgagtctgacgggaagcggctga
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