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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
fukutin related protein
Summary
- Gene Symbol
-
- FKRP
- Aliases
-
- FKTR
- LGMD2I
- MDC1C
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Cardiomyopathy
- Cell membrane
- Congenital muscular dystrophy
- Cytoplasm
- Disease variant
- Disulfide bond
- Dystroglycanopathy
- Endoplasmic reticulum
- Glycoprotein
- Golgi apparatus
- Limb-girdle muscular dystrophy
- Lissencephaly
- Magnesium
- Metal-binding
- Reference proteome
- Secreted
- Signal-anchor
- Transferase
- Transmembrane helix
- Zinc
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9H9S5 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| response to alcohol | ||
| connective tissue replacement | ||
| basement membrane organization | ||
| response to glucocorticoid | ||
| phosphatidylinositol 3-kinase/protein kinase B signal transduction |
GO Hierarchy
- oxygen metabolic process
- lipid metabolic process
- oxygen metabolic process
- localization of cell
- reproductive process
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound catabolic process [inference]
catabolic process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
aromatic compound catabolic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound catabolic process [inference]
cellular catabolic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
heterocycle catabolic process [inference]
primary metabolic process [inference]
small molecule metabolic process [inference]
organic substance metabolic process [inference]
organophosphate metabolic process [inference]
organic cyclic compound metabolic process [inference]
organonitrogen compound metabolic process [inference]
organic substance catabolic process [inference]
cellular process [inference]
cellular metabolic process [inference]
cellular aromatic compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
aromatic compound catabolic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
cellular nitrogen compound metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
cellular nitrogen compound catabolic process [inference]
cellular catabolic process [inference]
heterocycle metabolic process [inference]
nucleobase-containing compound metabolic process [inference]
heterocycle catabolic process [inference]
developmental process [inference]
response to stimulus [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol | ||
| extracellular space | ||
| sarcolemma | ||
| Golgi apparatus | ||
| skeletal muscle myofibril |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| dystroglycan binding | ||
| laminin binding | ||
| metal ion binding | ||
| protein binding | ||
| phosphotransferase activity, for other substituted phosphate groups |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
GlycoGene Database (GGDB)
- GGDB ID
- gg188
- Gene Symbol
-
- FKRP
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Rattus norvegicus | NP_001020849 | NM_001025678 |
| Drosophila melanogaster | NP_611531 | NM_137687 |
| Mus musculus | NP_775606 | NM_173430 |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0050663 | Bethlem myopathy | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0050777 | Joubert syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0060255 | rippling muscle disease 2 | |
| DOID:0060270 | pontocerebellar hypoplasia type 2D | |
| DOID:0060276 | pontocerebellar hypoplasia type 7 | |
| DOID:0060277 | pontocerebellar hypoplasia type 8 | |
| DOID:0060278 | pontocerebellar hypoplasia type 9 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001276 | Hypertonia |
| HP:0001284 | Areflexia |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001302 | Pachygyria |
| Disease ID | Disease Name |
|---|---|
| ORPHA:370980 |
|
| ORPHA:34515 |
|
| OMIM:606612 |
|
| ORPHA:899 |
|
| ORPHA:370968 |
|
| OMIM:236670 |
|
| ORPHA:370959 |
|
| OMIM:607155 |
|
| OMIM:613153 |
|
| ORPHA:588 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 37375 | FB:FBgn0034567 | ||
| 102354608 | LATCH10430 | ||
| 571426 | ZFIN:ZDB-GENE-070412-4 | DANRE09821 | |
| 108277811 | ICTPU10772 | ||
| 113579447 | ELEEL24133 | ||
| 106612391 | SALSA141488 | ||
| 115528948 | GADMO19771 | ||
| 101164830 | ORYLA03404 | ||
| 100691656 | ORENI17492 | ||
| 115594198 | SPAAU17563 |
