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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Ribitol 5-phosphate transferase FKRP
Summary
- UniProt ID
- Q9H9S5
- Gene Symbol
-
- FKRP
- 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
- Gene Ontology (GO)
| GO Term |
|---|
| Golgi membrane |
| extracellular space |
| Golgi apparatus |
| skeletal muscle myofibril |
| sarcolemma |
| cytosol |
| nucleoplasm |
| rough endoplasmic reticulum |
| GO Term |
|---|
| metal ion binding |
| identical protein binding |
| dystroglycan binding |
| phosphotransferase activity, for other substituted phosphate groups |
| laminin binding |
Sequence
MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASAAGPRVTVLVREFEAFDNAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETYVATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPVATANPARCLALNVSLREWTARYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPVGTSLFLQTALRGWAVQLLDLTFAAARQPPLATAHARWKAEREGRARRAALLRALGIRLVSWEGGRLEWFGCNKETTRCFGTVVGDTPAYLYEERWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFVAQAPNNYRRFLELKFGPGVIENPQYPNPALLSLTGSG
Glycosylation Sites
G79666IR
G02815KT
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
| DOID:0080033 | craniometaphyseal dysplasia | |
| DOID:0080092 | myofibrillar myopathy 1 | |
| DOID:0080094 | myofibrillar myopathy 3 | |
| DOID:0080102 | congenital myopathy 4A | |
| DOID:0090130 | cortical dysplasia-focal epilepsy syndrome | |
| DOID:0090132 | complex cortical dysplasia with other brain malformations 7 | |
| DOID:0090137 | complex cortical dysplasia with other brain malformations 1 | |
| DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
| DOID:0110213 | isolated cleft palate |
