Version 5.4
Homo sapiens Gene: FKTN
Summary
InnateDB Gene IDBG-79683.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FKTN
Gene Name fukutin
Synonyms CMD1X; FCMD; LGMD2M; MDDGA4; MDDGB4; MDDGC4
Species Homo sapiens
Ensembl Gene ENSG00000106692
Encoded Proteins
IDBP-79685
fukutin
IDBP-79687
fukutin
IDBP-79689
fukutin
IDBP-377093
fukutin
IDBP-377094
fukutin
IDBP-809168
fukutin
IDBP-809171
fukutin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:105558130-105641118
Strand Forward strand
Band q31.2
Transcripts
ENST00000223528 ENSP00000223528
ENST00000374705 ENSP00000363837
ENST00000357998 ENSP00000350687
ENST00000448551 ENSP00000399140
ENST00000457847 ENSP00000414114
ENST00000490134
ENST00000479846
ENST00000602661 ENSP00000473540
ENST00000602526 ENSP00000473347
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0016740 transferase activity
Biological Process
GO:0007399 nervous system development
GO:0007517 muscle organ development
GO:0008152 metabolic process
GO:0008285 negative regulation of cell proliferation
GO:0046329 negative regulation of JNK cascade
GO:0060049 regulation of protein glycosylation
Cellular Component
GO:0000139 Golgi membrane
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000028414
View Gene Order
ENSBTAG00000010247
Not yet available
Cross-References
SwissProt O75072
TrEMBL I7HFV8
UniProt Splice Variant
Entrez Gene 2218
UniGene Hs.55777
RefSeq NM_001198963 XM_006717010 NM_001079802 NM_006731 XM_005251803 XM_005251804 XM_006717006 XM_006717008 XM_006717009
HUGO HGNC:3622
OMIM 607440
CCDS CCDS6766
HPRD 06308
IMGT
EMBL AB008226 AB038490 AK300840 AL158070 BC101808 BC112038 BC117699
GenPept AAI01809 AAI12039 AAI17700 BAA32000 BAA94082 BAG62491 CAC22162
RNA Seq Atlas 2218

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca