InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FKTN

Summary

InnateDB Protein

IDBP-79685.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FKTN

Protein Name

fukutin

Synonyms

CMD1X; FCMD; LGMD2M; MDDGA4; MDDGB4; MDDGC4;

Species

Homo sapiens

Ensembl Protein

ENSP00000223528

InnateDB Gene

IDBG-79683 (FKTN)

Protein Structure

UniProt Annotation

Function

May be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.

Subcellular Localization

Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.

Disease Associations

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269PubMed:10545611, ECO:0000269PubMed:19179078, ECO:0000269PubMed:22958903}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4) [MIM:613152]: An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of mental retardation. {ECO:0000269PubMed:14627679, ECO:0000269PubMed:18177472, ECO:0000269PubMed:19179078, ECO:0000269PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids. {ECO:0000269PubMed:17044012, ECO:0000269PubMed:19342235}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1X (CMD1X) [MIM:611615]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:17036286}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region. {ECO:0000269PubMed:11115853}.

Comments

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