| Type | Description |
|---|---|
| Definition | fukutin |
| Date | Results | Publications |
|---|---|---|
| 2018-11-17 10:04:00 | The results suggest that fukutin and FKRP not only participate in the synthesis of O-mannosyl glycans added to alpha-dystroglycan in the endoplasmic reticulum and Golgi complex, but that they could also play a role, that remains to be established, in the nucleus of retinal neurons. | 29416295 |
| 2018-09-22 11:53:00 | ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. | 27194101 |
| 2018-06-23 11:07:00 | the mutated fukutin protein was smaller than the normal protein, reflecting the truncation of fukutin due to a premature stop codon. Immunostaining analysis showed a decrease in the signal for the glycosylated form of alpha-dystroglycan. These findings indicated that this mutation is the second most prevalent loss-of-function mutation in Japanese Fukuyama congenital muscular dystrophy patients. | 28680109 |
| 2018-04-14 11:53:00 | Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function. | 29477842 |
| 2017-01-14 11:35:00 | Fukutin and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol. | 26923585 |
| Type | IDs |
|---|---|
| Synonymous | CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4 |
| Gene |
UniProtKB-ID:
FKTN_HUMAN,
B4E2W4_HUMAN
UniprotKB:
O75072,
B4E2W4
UniParc:
UPI0001E92A2E,
UPI000012A5A6,
UPI00017A872E
EMBL:
BC117699,
BC112038,
AK300840,
BC101808,
AB008226,
AK304460,
AL158070,
AB038490
Ensembl:
ENSG00000106692
KO:
hsa:2218
|
| Nucleutide sequences |
EMBL-CDS:
AAI12039.1,
BAA32000.1,
AAI17700.1,
AAI01809.1,
BAA94082.1,
BAG62491.1,
BAG65276.1
Ensembl_TRS:
ENST00000602661,
ENST00000448551,
ENST00000223528,
ENST00000357998
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000350687,
ENSP00000399140,
ENSP00000473540,
ENSP00000223528
RefSeq:
NP_001338431.1,
XP_011516673.1,
XP_016869961.1,
XP_011516681.1,
XP_011516680.1,
XP_011516670.1,
XP_011516675.1,
XP_011516672.1,
NP_001338427.1,
XP_016869958.1,
XP_011516676.1,
NP_001338426.1,
XP_006717077.1,
NP_001185892.1,
XP_016869957.1,
XP_011516693.1,
XP_011516678.1,
NP_006722.2,
XP_011516692.1,
NP_001338428.1,
XP_011516689.1,
NP_001338430.1,
XP_016869954.1,
XP_016869952.1,
XP_016869962.1,
XP_016869951.1,
XP_011516677.1,
NP_001338429.1,
XP_016869953.1,
NP_001338425.1,
XP_011516683.1,
NP_001073270.1,
XP_016869964.1,
XP_016869956.1,
XP_011516671.1,
XP_016869959.1
|
| Others |
UniRef100:
UniRef100_O75072,
UniRef100_B4E2W4
UniRef90:
UniRef90_O75072,
UniRef90_A0A5F9CCA7
UniRef50:
UniRef50_O75072,
UniRef50_A0A4W3H2F0
UniGene:
Hs.55777
CCDS:
CCDS6766.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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