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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 |
|---|---|---|
| adult walking behavior | ||
| reelin-mediated signaling pathway | ||
| glial cell differentiation | ||
| inflammatory response | ||
| pentitol metabolic process |
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:0110454 | dilated cardiomyopathy 1S | |
| DOID:0110455 | dilated cardiomyopathy 1U | |
| DOID:0110456 | dilated cardiomyopathy 1R | |
| DOID:0110457 | dilated cardiomyopathy 1Y | |
| DOID:0110458 | dilated cardiomyopathy 1BB | |
| DOID:0110459 | dilated cardiomyopathy 1FF | |
| DOID:0110460 | dilated cardiomyopathy 2A | |
| DOID:0110461 | X-linked dilated cardiomyopathy | |
| DOID:0110632 | megaconial type congenital muscular dystrophy | |
| DOID:0110633 | rigid spine muscular dystrophy 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004637 | Decreased cervical spine mobility |
| HP:0005109 | Abnormality of the Achilles tendon |
| HP:0005162 | Abnormal left ventricular function |
| HP:0006829 | Severe muscular hypotonia |
| HP:0006888 | Meningoencephalocele |
| HP:0006899 | Fusion of the cerebellar hemispheres |
| HP:0006955 | Olivopontocerebellar hypoplasia |
| HP:0007015 | Poor gross motor coordination |
| HP:0007033 | Cerebellar dysplasia |
| HP:0007126 | Proximal amyotrophy |
| 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 |
