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HUMAN:FKTN
Contents
Species (Taxon ID) | Homo sapiens (Human). (9606) | |
Gene Name(s) | FKTN (synonyms: FCMD) | |
Protein Name(s) | Fukutin
Fukuyama-type congenital muscular dystrophy protein | |
External Links | ||
UniProt | O75072 | |
EMBL | AB008226 AB038490 AK300840 AL158070 BC101808 BC112038 BC117699 | |
CCDS | CCDS6766.1 | |
RefSeq | NP_001073270.1 NP_001185892.1 NP_006722.2 XP_005251860.1 XP_005251861.1 | |
UniGene | Hs.55777 | |
ProteinModelPortal | O75072 | |
BioGrid | 108512 | |
STRING | 9606.ENSP00000223528 | |
PhosphoSite | O75072 | |
MaxQB | O75072 | |
PaxDb | O75072 | |
PRIDE | O75072 | |
DNASU | 2218 | |
Ensembl | ENST00000223528 ENST00000357998 ENST00000448551 ENST00000602661 | |
GeneID | 2218 | |
KEGG | hsa:2218 | |
UCSC | uc004bcr.3 | |
CTD | 2218 | |
GeneCards | GC09P108320 | |
GeneReviews | FKTN | |
HGNC | HGNC:3622 | |
HPA | HPA012820 | |
MIM | 253800 607440 611588 611615 613152 | |
neXtProt | NX_O75072 | |
Orphanet | 206554 370980 272 154 588 899 | |
PharmGKB | PA162388669 | |
eggNOG | NOG83383 | |
GeneTree | ENSGT00390000014471 | |
HOGENOM | HOG000231657 | |
HOVERGEN | HBG005068 | |
InParanoid | O75072 | |
OMA | PVKTWDW | |
OrthoDB | EOG7M6D86 | |
PhylomeDB | O75072 | |
TreeFam | TF319633 | |
UniPathway | UPA00378 | |
ChiTaRS | FKTN | |
GeneWiki | Fukutin | |
GenomeRNAi | 2218 | |
NextBio | 35535038 | |
PRO | PR:O75072 | |
Proteomes | UP000005640 | |
Bgee | O75072 | |
CleanEx | HS_FKTN | |
ExpressionAtlas | O75072 | |
Genevestigator | O75072 | |
GO | GO:0005801 GO:0005783 GO:0005615 GO:0005794 GO:0000139 GO:0016021 GO:0005634 GO:0016740 GO:0007517 GO:0008285 GO:0046329 GO:0007399 GO:0060049 | |
InterPro | IPR009644 IPR007074 | |
PANTHER | PTHR15407 | |
Pfam | PF04991 |
Annotations
Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
---|---|---|---|---|---|---|---|---|---|---|
involved_in |
GO:0006493 |
protein O-linked glycosylation |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0030173 |
integral component of Golgi membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005794 |
Golgi apparatus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0035269 |
protein O-linked mannosylation |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060049 |
regulation of protein glycosylation |
ECO:0000303 |
author statement without traceable support used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0046329 |
negative regulation of JNK cascade |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0008285 |
negative regulation of cell population proliferation |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005794 |
Golgi apparatus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005783 |
endoplasmic reticulum |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005801 |
cis-Golgi network |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005794 |
Golgi apparatus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q8R507 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007517 |
muscle organ development |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007399 |
nervous system development |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005615 |
extracellular space |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0016740 |
transferase activity |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005794 |
Golgi apparatus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0016021 |
integral component of membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0000139 |
Golgi membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006486 |
protein glycosylation |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
UniPathway:UPA00378 |
P |
Seeded From UniProt |
complete | ||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Xiong, H et al. (2006) Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem. Biophys. Res. Commun. 350 935-41 PubMed GONUTS page
- ↑ 2.0 2.1 Willer, T et al. (2014) The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. Elife 3 PubMed GONUTS page
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 Yamamoto, T et al. (2008) A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation. Int J Exp Pathol 89 332-41 PubMed GONUTS page
- ↑ Matsumoto, H et al. (2004) Subcellular localization of fukutin and fukutin-related protein in muscle cells. J. Biochem. 135 709-12 PubMed GONUTS page
- ↑ 5.0 5.1 5.2 Kobayashi, K et al. (1998) An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394 388-92 PubMed GONUTS page
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