Gene Symbol | FKRP |
Entrez ID | 79147 |
Uniprot ID | Q9H9S5 |
Description | fukutin related protein |
Chromosomal Location | chr19: 46,746,046-46,776,988 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0016485 |
protein processing |
Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
IEA |
BP |
GO:0035269 |
protein O-linked mannosylation |
The transfer of mannose from dolichyl activated mannose to the hydroxyl group of a seryl or threonyl residue of a protein acceptor molecule, to form an O-linked protein-sugar linkage. |
IMP |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
IEA |
CC |
GO:0005615 |
extracellular space |
That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
IDA |
CC |
GO:0005791 |
rough endoplasmic reticulum |
The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. |
IDA |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
IDA |
CC |
GO:0016010 |
dystrophin-associated glycoprotein complex |
A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase. |
IEA |
CC |
GO:0016021 |
integral component of membrane |
The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IEA |
CC |
GO:0042383 |
sarcolemma |
The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
IEA |
MF |
GO:0016740 |
transferase activity |
Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. |
IEA |
Domain ID | Description |
---|---|
IPR007074 |
LicD family |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa00515 |
Mannose type O-glycan biosynthesis |
KEGG |
hsa01100 |
Metabolic pathways |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0265221 |
Walker-Warburg Congenital Muscular Dystrophy |
C0457133 |
Muscle Eye Brain Disease |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
ASGR2 |
433 |
P07307 |
0.63 |
CD1B |
910 |
P29016 |
0.63 |
HLA-DPA1 |
3113 |
P20036 |
0.63 |
HAUS7 |
55559 |
Q99871 |
0.63 |
SLC39A4 |
55630 |
Q6P5W5 |
0.63 |
SYNE4 |
163183 |
Q8N205 |
0.63 |