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FLASH GENE

Symbol

FKTN

contributors: mct - updated : 20-01-2015

HGNC name	fukutin
HGNC id	3622

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1X cardiomyopathy, dilated 1X FCMD Fukuyama congenital muscular dystrophy LGMD2M limb girdle muscular dystrophy 2M
Location	9q31.1      Physical location : 108.320.410 - 108.403.398
Synonym name	Fukuyama-type congenital muscular dystrophy protein
Synonym symbol(s)	RP11-235C23.1, MGC126857, MGC134944, MGC134945, MGC138243
EC.number	2.-.-.-

DNA

TYPE	functioning gene
STRUCTURE	82.99 kb     10 Exon(s)

regulatory sequence	Promoter (TATA box)
text structure	a retrotransposal inserted sequence in the 3'UTR, found in most chromosomes of patients
	a CRE-like sequence

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	numerous alternatively spliced mRNA transcripts (PMID: 11165248) Variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001079802 11 - 7456 NP_001073270 53 461 - 2001 11165248 NM_006731 10 - 7364 NP_006722 53 461 - 2001 11165248 NM_001198963 12 - 2504 NP_001185892 - 430 - 2001 11165248

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       predominantly Endocrine pancreas       predominantly Nervous brain       predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal     Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	normal developing brain

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains

an amino terminal signal sequence suggesting that is secreted protein

HOMOLOGY

Homologene

FAMILY

licD transferase family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,nucleus
text	extracellular matrix
	in the cis-Golgi compartment
	co-localizes with POMGNT1 in the Golgi apparatus

basic FUNCTION	regulation of neuronal migration in the fetal cerebrum and cerebellum
	involved in migration and assembly of neurons during cortical histogenesis,not of basement membrane formation
	required for the maintenance of muscle integrity, cortical histogenesis and normal ocular development
	may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan
	might play a significant role in post-translational modification of synaptic proteins in neuronal cells
	is involved in basement membrane formation via the glycosylation of alpha-dystroglycan (alpha-DG), and hypoglycosylation of alpha-DG provokes the muscular, CNS and eye lesions of FCMD
	is a very low abundance protein, required for glycosylation of alpha-dystroglycan at the Golgi, though not substantially-glycosylated itself

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , nervous system

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

forms a complex with POMGNT1 and may modulate its enzymatic activity

INTERACTION

DNA

RNA

small molecule

protein	functional linkage with alpha-dystroglycan
	interacting with POMGNT1

cell & other

REGULATION

Other

regulated by transcription factor CREB in response to the signals generated by synaptic activity

ASSOCIATED DISORDERS

corresponding disease(s)

FCMD , CMD1X , LGMD2M

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy   FKTN folding amelioration directed at correcting the cellular localization may provide a therapeutic benefit to glycosylation-deficient muscular dystrophies

ANIMAL & CELL MODELS