Fktn - fukutin Gene

Also Known as Fcmd; D830030O17Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 246179

Summary

Predicted to enable transferase activity. Predicted to be involved in negative regulation of JNK cascade; negative regulation of cell population proliferation; and protein O-linked mannosylation. Located in Golgi apparatus. Is expressed in several structures, including central nervous system; future brain; genitourinary system; sensory organ; and spinal ganglion. Used to study Fukuyama congenital muscular dystrophy and muscular dystrophy-dystroglycanopathy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy (multiple) and muscular dystrophy (multiple). Orthologous to human FKTN (fukutin). [provided by Alliance of Genome Resources, Apr 2022]

Fktn Products (4)

mRNA Protein Name
NM_001363126.1 NP_001350055.1 ribitol-5-phosphate transferase FKTN isoform 2
NM_001363127.1 NP_001350056.1 ribitol-5-phosphate transferase FKTN isoform 3
NM_001363128.1 NP_001350057.1 ribitol-5-phosphate transferase FKTN isoform 3
NM_139309.5 NP_647470.1 ribitol-5-phosphate transferase FKTN isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables phosphotransferase activity, for other substituted phosphate groups IDA
IDA: Inferred from direct assay
26923585 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within basement membrane organization IMP
IMP: Inferred from mutant phenotype
29360985 MGI
acts upstream of or within brain development IDA
IDA: Inferred from direct assay
29360985 MGI
acts upstream of or within brain development IMP
IMP: Inferred from mutant phenotype
29360985 MGI
acts upstream of or within cerebellar cortex development IMP
IMP: Inferred from mutant phenotype
29360985 MGI
acts upstream of or within cerebral cortex development IMP
IMP: Inferred from mutant phenotype
29360985 MGI
acts upstream of or within protein deglycosylation IMP
IMP: Inferred from mutant phenotype
29360985 MGI
acts upstream of or within protein glycosylation IDA
IDA: Inferred from direct assay
19017726 MGI
acts upstream of or within protein glycosylation IGI
IGI: Inferred from genetic interaction
25661440 MGI
acts upstream of or within protein glycosylation IMP
IMP: Inferred from mutant phenotype
19017726 MGI
acts upstream of or within regulation of protein binding IMP
IMP: Inferred from mutant phenotype
19017726 MGI
acts upstream of or within skeletal muscle fiber differentiation IMP
IMP: Inferred from mutant phenotype
25661440 MGI
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
12471058 MGI
located in Golgi membrane IDA
IDA: Inferred from direct assay
26923585 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

ribitol-5-phosphate transferase FKTN

fukutin

  • Fukuyama type congenital muscular dystrophy (fukutin)

  • Fukuyama type congenital muscular dystrophy homolog

  • fukuyama-type congenital muscular dystrophy protein

  • ribitol-5-phosphate transferase

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04972 FKTN Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Fktn NCBI NCBI:2218