| URN | urn:agi-llid:180 |
|---|---|
| Total Entities | 0 |
| Connectivity | 338 |
| Name | Agrn |
| Description | agrin |
| Notes | This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. [provided by RefSeq, Aug 2011] |
| Ariadne Ontology | Extracellular matrix polymerization |
|---|---|
| Secreted proteins | |
| Biofluids assayable substances |
| GO Molecular Function | laminin binding |
|---|---|
| acetylcholine receptor regulator activity | |
| structural constituent of cytoskeleton |
| GO Cellular Component | extracellular matrix |
|---|---|
| extracellular region | |
| synapse | |
| Golgi lumen | |
| lysosomal lumen | |
| plasma membrane | |
| cell surface | |
| extracellular space | |
| basement membrane | |
| basal lamina | |
| proteinaceous extracellular matrix |
| GO Biological Process | synaptic transmission |
|---|---|
| regulation of receptor activity | |
| signal transduction | |
| G-protein coupled acetylcholine receptor signaling pathway | |
| regulation of Rac GTPase activity | |
| positive regulation of transcription from RNA polymerase II promoter | |
| positive regulation of protein phosphorylation | |
| positive regulation of protein geranylgeranylation | |
| regulation of protein phosphorylation | |
| positive regulation of neuron apoptotic process | |
| regulation of synaptic growth at neuromuscular junction | |
| cell differentiation | |
| chondroitin sulfate metabolic process | |
| neurotransmitter receptor metabolic process | |
| plasma membrane organization | |
| receptor clustering | |
| clustering of voltage-gated sodium channels | |
| synapse assembly | |
| axon guidance | |
| multicellular organismal development | |
| carbohydrate metabolic process | |
| glycosaminoglycan biosynthetic process | |
| small molecule metabolic process | |
| glycosaminoglycan catabolic process | |
| glycosaminoglycan metabolic process | |
| synapse organization | |
| neuromuscular junction development |
| Pathway | acetylcholine signaling pathway via nicotinic acetylcholine receptor |
|---|
| Group | Extracellular matrix polymerization |
|---|---|
| synaptic transmission | |
| regulation of receptor activity | |
| signal transduction | |
| G-protein coupled acetylcholine receptor signaling pathway | |
| regulation of Rac GTPase activity | |
| positive regulation of transcription from RNA polymerase II promoter | |
| positive regulation of protein phosphorylation | |
| positive regulation of protein geranylgeranylation | |
| regulation of protein phosphorylation | |
| positive regulation of neuron apoptotic process | |
| regulation of synaptic growth at neuromuscular junction | |
| cell differentiation | |
| chondroitin sulfate metabolic process | |
| neurotransmitter receptor metabolic process | |
| plasma membrane organization | |
| receptor clustering | |
| clustering of voltage-gated sodium channels | |
| synapse assembly | |
| axon guidance | |
| multicellular organismal development | |
| carbohydrate metabolic process | |
| glycosaminoglycan biosynthetic process | |
| small molecule metabolic process | |
| glycosaminoglycan catabolic process | |
| glycosaminoglycan metabolic process | |
| synapse organization | |
| neuromuscular junction development | |
| laminin binding | |
| acetylcholine receptor regulator activity | |
| structural constituent of cytoskeleton | |
| extracellular matrix | |
| extracellular region | |
| synapse | |
| Golgi lumen | |
| lysosomal lumen | |
| plasma membrane | |
| cell surface | |
| extracellular space | |
| basement membrane | |
| basal lamina | |
| proteinaceous extracellular matrix | |
| Secreted proteins | |
| Biofluids assayable substances |
| MedScan ID | 180 |
|---|---|
| 634837 |
| Hugo ID | 329 |
|---|
| Human chromosome position | 1p36.33 |
|---|
| LocusLink ID | 180 |
|---|---|
| 375790 | |
| 11603 | |
| 25592 |
| Alias | RP11-54O7.13-009 |
|---|---|
| agrin | |
| agrin proteoglycan | |
| nmf380 | |
| RP23-139J18.2 | |
| AGR | |
| RP11-54O7.13 | |
| FLJ45064 | |
| OTTHUMP00000044043 | |
| LOC389836 | |
| LOC381587 | |
| LOC381586 | |
| LOC230997 | |
| AGRN | |
| LOC339452 | |
| LOC348522 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 103320 |
|---|---|
| 254300 |
| Unigene ID | Hs.273330 |
|---|---|
| Mm.273098 | |
| Rn.2163 |
| KEGG ID | hsa:375790 |
|---|---|
| mmu:11603 | |
| rno:25592 |
| Swiss-Prot Accession | O00468 |
|---|---|
| A2ASQ1 | |
| P25304 | |
| Q5SVA2 | |
| Q60FE1 | |
| Q7KYS8 | |
| Q8N4J5 | |
| Q96IC1 | |
| Q9BTD4 | |
| Q63034 |
| GO ID | 0030548 |
|---|---|
| 0043236 | |
| 0005200 | |
| 0007213 | |
| 0007411 | |
| 0005975 | |
| 0030204 | |
| 0045162 | |
| 0006024 | |
| 0006027 | |
| 0030203 | |
| 0007528 | |
| 0045213 | |
| 0007009 | |
| 0043525 | |
| 2000541 | |
| 0001934 | |
| 0045944 | |
| 0043113 | |
| 0032314 | |
| 0008582 | |
| 0007165 | |
| 0044281 | |
| 0007416 | |
| 0050808 | |
| 0005796 | |
| 0005605 | |
| 0009986 | |
| 0031012 | |
| 0005615 | |
| 0043202 | |
| 0005886 | |
| 0045202 | |
| 0030154 | |
| 0007275 | |
| 0001932 | |
| 0010469 | |
| 0007268 | |
| 0005604 | |
| 0005576 | |
| 0005578 |
| PIR ID | JH0399 |
|---|
| Swiss-Prot ID | AGRIN_HUMAN |
|---|---|
| AGRIN_RAT |
| Cell Localization | Secreted |
|---|---|
| extracellular space | |
| extracellular matrix | |
| Extracellular |
| IPI ID | IPI00374563 |
|---|---|
| IPI00188885 | |
| IPI00231249 | |
| IPI00231250 | |
| IPI00231251 | |
| IPI00231252 |
| Mouse chromosome position | 4 80.0 cM |
|---|
| Rat chromosome position | 5q36 |
|---|
| Homologene ID | 27907 |
|---|
| MGI ID | 87961 |
|---|
| RGD ID | 2067 |
|---|
| Primary Cell Localization | Extracellular |
|---|