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HUMAN:FKTN

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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

PMID:17034757[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0030173

integral component of Golgi membrane

PMID:17034757[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005794

Golgi apparatus

PMID:25279699[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0035269

protein O-linked mannosylation

PMID:25279699[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060049

regulation of protein glycosylation

PMID:18808525[3]

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

PMID:18808525[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0008285

negative regulation of cell population proliferation

PMID:18808525[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005794

Golgi apparatus

PMID:18808525[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005783

endoplasmic reticulum

PMID:18808525[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:18808525[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005801

cis-Golgi network

PMID:15213246[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005794

Golgi apparatus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8R507
ensembl:ENSMUSP00000114699

C

Seeded From UniProt

complete

involved_in

GO:0007517

muscle organ development

PMID:9690476[5]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007399

nervous system development

PMID:9690476[5]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005615

extracellular space

PMID:9690476[5]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

enables

GO:0016740

transferase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0808

F

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

part_of

GO:0005794

Golgi apparatus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0333

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963
UniProtKB-SubCell:SL-0086

C

Seeded From UniProt

complete

part_of

GO:0000139

Golgi membrane

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0134

C

Seeded From UniProt

complete

involved_in

GO:0006486

protein glycosylation

GO_REF:0000041

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. 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. 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. 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
  4. 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. 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