KEGG   Homo sapiens (human): 79147
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)
SSDB
Motif
Pfam: LicD
Other DBs
NCBI-GeneID: 79147
NCBI-ProteinID: NP_001034974
OMIM: 606596
HGNC: 17997
Ensembl: ENSG00000181027
UniProt: Q9H9S5
Structure
Position
19:46744760..46758575
AA seq 495 aa
MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASAAGPRVTVLVREFEAFD
NAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETY
VATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPVATANPARCLALNVSLREWTA
RYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPVGTSLFLQTALRGWAVQLLDLTF
AAARQPPLATAHARWKAEREGRARRAALLRALGIRLVSWEGGRLEWFGCNKETTRCFGTV
VGDTPAYLYEERWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWD
YDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPF
YPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFVAQAPNNYRRFLELKFGPGVIEN
PQYPNPALLSLTGSG
NT seq 1488 nt   +upstreamnt  +downstreamnt
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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (3)   
   KEGG PATHWAY (2)   
   KEGG MODULE (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (11)   
   KEGG DISEASE (6)   
   OMIM (5)   
Chemical substance (1)   
   KEGG COMPOUND (1)   
Chemical reaction (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (35)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (33)   
DNA sequence (55)   
   RefSeq(nuc) (33)   
   GenBank (11)   
   EMBL (11)   
3D Structure (8)   
   PDB (8)   
Protein domain (1)   
   Pfam (1)   
All databases (137)   

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