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FLASH GENE

Symbol

FKRP

contributors: mct - updated : 26-02-2011

HGNC name	fukutin related protein
HGNC id	17997

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001039885 4 - 3474 NP_001034974 - 495 - 2005 15574464 NM_024301 4 - 3422 NP_077277 - 495 brain, liver, pancreas, prostate, kidney, lung 2005 15574464

EXPRESSION

Type	ubiquitous

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         Digestive intestine small intestine     highly   mouth       highly Lymphoid/Immune thymus       highly Nervous brain           nerve spinal nerve sciatic     Reproductive male system testis     highly Visual eye uvea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Epithelial barrier/lining retinal pigment epithelium (RPE)     Epithelial secretory glandular endocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N terminal arginine residue
	a transmembrane domain

HOMOLOGY

Homologene

FAMILY	WD-repeat striatin family
	licD transferase family

CATEGORY

motor/contractile , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	in rough endoplasmic reticulum
	type 2 transmembrane protein
	targeted to the medial-Golgi apparatus through its N-terminus and transmembrane domains

basic FUNCTION	glycosyltransferase involved in alpha-dystroglycan glycosylation
	may be functioning as scaffolding or signaling protein
	may be having a glycosyltransferase or phosphoryl-ligand transferase activity
	may be involved in O-mannosylglycan synthesis of alpha-dystroglycan, likely in the initial step in this synthesis
	Golgi-resident protein required for the post-translational modification of dystroglycan

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding calmodulin in a calcium dependent manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LGMD2I , MDC1C , WLKWS5

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

present at the sarcolemma in mouse