GGDB:

本遺伝子は糖転移酵素様のタンパク質をコードしており、Limb-Girdle Muscular Dystrophyの原因遺伝子と考えられている。同じく（福山型筋ジストロフィー症の原因遺伝子として考えられている）糖転移酵素様タンパク質であるFukutinに相同性を持ち、fukutin-related protein (FKRP)と命名されている。遺伝子ノックアウトマウスではα−ジストログリカンの糖鎖構造が変化することが知られている。この酵素はα−ジストログリカンのO-マンノース型糖鎖構造中に含まれるリビトールリン酸（Ribitol 5-phosphate: Rbo5P）のtandem構造の2番目のRbo5P構造(Rbo5P-Rbo5P-3GalNAcb1-3GlcNAcb1-4(phospho-6)Man-Ser/Thr)を生合成する。基質である糖ヌクレオチド、cytidine diphosphate ribitol (CDP- Rbo)はIsoprenoid synthase domain--containing protein (ISPD、これも筋ジストロフィー症の原因遺伝子の一つとして知られていた)によって生合成される。

Keyword: Limb-Girdle筋ジストロフィー症 , α−ジストログリカン , リビトールリン酸（Ribitol 5-phosphate: Rbo5P） , 糖転移酵素

	CDP-Rbo
JCGG-STR033528		JCGG-STR033529

Glycosyltransferase-like

GGDB Symbol

FKRP Alias

Designation

hFKRP

Organism

Homo sapiens

GeneID

79147

HGNC

FKRP (17997)

mRNA

NM_024301

map

19q13.33

Protein

NP_077277

EC#

CAZy

GlyCosmos Glycogenes

FKRP

OMIM

606596

Disease name

先天性筋ジストロフィー1C型 , 肢帯型筋ジストロフィー2I型

GDGDB

CON00381 CON00382

Human Protein Atlas

ENSG00000181027

Mus musculus

mRNA	NM_173430
Protein	NP_775606
MGI	82959

Rattus norvegicus

mRNA	NM_001025678
Protein	NP_001020849

Drosophila melanogaster

mRNA	NM_137687
Protein	NP_611531

Cell Rep 2001-12-01 ;10(25):2851-9.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M. et al. PMID:11741828

Cell Rep 2015-06-01 ;25(6):474-84.

Dystroglycanopathy muscles lacking functional glycosylation of alpha-dystroglycan retain regeneration capacity.

Awano H. et al. PMID:25937147

Hum. Mol. Genet. 2015-07-01 ;185(7):2025-37.

Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration.

Awano H. et al. PMID:25976249

Neuromuscul. Disord. 2016-03-01 ;14(9):2209-23.

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.

Kanagawa M. et al. PMID:26923585 Refer to: Fig. 5 (D)

DONOR : CDP-Rbo

Glc	Man	Gal	GlcNAc	GalNAc	Fuc	Xyl	Neu5Ac	Neu5Gc	GlcA	IdoA	GlcN

Substrate Transferred

	JCGG-STR033528	CDP-Rbo	JCGG-STR033529

RNA Expression from Human Protein Atlas

This RNA expression data uses "HPA data" from the Human Protein Atlas. Tissue RNA Expression

data available from v22.proteinatlas.org

Neuromuscul. Disord. 2001-12-01 ;69(6):1198-209.

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Brockington M. et al. PMID:11592034

Cell Rep 2001-12-01 ;10(25):2851-9.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M. et al. PMID:11741828

Cell Rep 2015-06-01 ;25(6):474-84.

Dystroglycanopathy muscles lacking functional glycosylation of alpha-dystroglycan retain regeneration capacity.

Awano H. et al. PMID:25937147

Hum. Mol. Genet. 2015-07-01 ;185(7):2025-37.

Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration.

Awano H. et al. PMID:25976249

brainheartkidneyliverlungpancreasplacentaskeletal muscle

Provided by GOA

Function
transferase activity

Process
protein O-linked mannosylation
protein processing

Component
Golgi apparatus
Golgi membrane
dystrophin-associated glycoprotein complex
extracellular space
integral component of membrane
rough endoplasmic reticulum
sarcolemma

FKRP

Glycosyltransferase-like

Orthologous Gene

Mus musculus

Rattus norvegicus

Drosophila melanogaster

Acceptor Substrates (Reference)

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Dystroglycanopathy muscles lacking functional glycosylation of alpha-dystroglycan retain regeneration capacity.

Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration.

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.

DONOR : CDP-Rbo

Substrate Transferred

Acceptor Substrates (KEM-C)

Expression

Expression (Reference)

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Dystroglycanopathy muscles lacking functional glycosylation of alpha-dystroglycan retain regeneration capacity.

Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration.

Gene Ontology