• Gene id: 2218

Gene Summary

• Gene Symbol: FKTN   Gene   UCSC   Ensembl
• Aliases: CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4
• Gene name: fukutin
• Alternate names: fukutin, Fukuyama type congenital muscular dystrophy protein, patient fukutin, ribitol-5-phosphate transferase,
• Gene location: 9q31.2 (105558116: 105655949)     Exons: 27     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltra

Protein Summary

• Protein general information: O75072  
  • Name: Fukutin (EC 2.4.2. ) (Fukuyama type congenital muscular dystrophy protein) (Ribitol 5 phosphate transferase)
  • Length: 461  
  • Mass: 53724
  • Tissue specificity: Expressed in the retina (at protein level) (PubMed
• Sequence:

  MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLI
  DPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGI
  DSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVD
  GLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSG
  TCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETD
  HMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWP
  ISEWDEVIQLY

• Structural information:
  • Interpro: IPR009644  IPR007074  
  • STRING: ENSP00000223528
• Other Databases: GeneCards:  FKTN  Malacards:  FKTN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0030173	integral component of Golgi membrane	IDA	cellular component
GO:0035269	protein O-linked mannosylation	IMP	biological process
GO:0006493	protein O-linked glycosylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0007517	muscle organ development	TAS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0060049	regulation of protein glycosylation	NAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0046329	negative regulation of JNK cascade	IMP	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0005801	cis-Golgi network	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Dilated cardiomyopathy	KEGG:H00294
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Fukuyama congenital muscular dystrophy	KEGG:H01957
Limb-girdle muscular dystrophy	KEGG:H00593
Dilated cardiomyopathy	KEGG:H00294
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Fukuyama congenital muscular dystrophy	KEGG:H01957
Fukuyama congenital muscular dystrophy	PMID:11445638
Walker-Warburg syndrome	PMID:10545611
Walker-Warburg syndrome	PMID:19266496
Walker-Warburg syndrome	PMID:9690476
autosomal recessive limb-girdle muscular dystrophy type 2L	PMID:17044012
Dilated cardiomyopathy 1B	PMID:17036286
Muscular dystrophy	PMID:10852541
Muscular dystrophy	PMID:19342235
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray