GlyCosmos Portal

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
Golgi membrane	IDA	26923585 29477842
extracellular space	IDA	19900540
nucleoplasm	IDA
rough endoplasmic reticulum	IDA	15213246
Golgi apparatus	IDA	19900540 25279699 29477842

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

plasma membrane [inference]

sarcolemma

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum [inference]

rough endoplasmic reticulum

Golgi apparatus

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

contractile fiber [inference]

myofibril [inference]

skeletal muscle myofibril

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum [inference]

rough endoplasmic reticulum

Golgi apparatus

intracellular non-membrane-bounded organelle [inference]

contractile fiber [inference]

myofibril [inference]

skeletal muscle myofibril

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

contractile fiber [inference]

myofibril [inference]

skeletal muscle myofibril

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
dystroglycan binding	IEA
protein binding	IPI	27601598 29477842
phosphotransferase activity, for other substituted phosphate groups	IDA	26923585 27194101 29477842 31949166
identical protein binding	IPI	31949166
laminin binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

phosphotransferase activity, for other substituted phosphate groups

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding

extracellular matrix binding [inference]

laminin binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Fukutin-related protein

Functional Category

G: Carbohydrate transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
Q: Secondary metabolites biosynthesis, transport and catabolism

Displaying 1 entry
Gene Ontology
glycoprotein metabolic process

Displaying **all 2** entries
InterPro
LicD family
Ribitol-5-phosphate transferase FKTN-related

Human Protein Atlas

ENSG00000181027

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg188

Gene Symbol

FKRP

Orthologous Gene

Displaying **all 3** entries
Species	Protein	mRNA
Drosophila melanogaster	NP_611531	NM_137687
Mus musculus	NP_775606	NM_173430
Rattus norvegicus	NP_001020849	NM_001025678

KEGG BRITE Database

Orthology

K19873

Name

fukutin-related protein [EC:2.7.8.-]

References

21886772

Disease

Disease Ontology

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:0050560	Walker-Warburg syndrome	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5	Alliance of Genome Resources
DOID:11724	limb-girdle muscular dystrophy	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy	Alliance of Genome Resources
DOID:9884	muscular dystrophy	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **191** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000050	Hypoplastic male external genitalia
HP:0000054	Micropenis
HP:0000110	Renal dysplasia
HP:0000158	Macroglossia
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000204	Cleft upper lip

Displaying **all 10** entries
Disease ID	Disease Name
OMIM:607155	autosomal recessive limb-girdle muscular dystrophy type 2I
ORPHA:370959	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy with cerebellar involvement
ORPHA:370980	muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy without intellectual disability
ORPHA:34515	autosomal recessive limb-girdle muscular dystrophy type 2I
OMIM:606612	muscular dystrophy-dystroglycanopathy type B5
ORPHA:899	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A
OMIM:236670	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:588	muscle-eye-brain disease muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:370968	congenital muscular dystrophy with intellectual disability muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6
OMIM:613153	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements