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Details on Person UniProt:P21359 NF1
| Class:Id | ReferenceGeneProduct:60115 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Sat February 7 2015;chain:2-2839 added on Sat February 7 2015;chain:2-1305 added on Sat February 7 2015;initiator methionine:1 for 60115 removed on Fri Nov 03 2023;initiator methionine: for 60115 added on Fri Nov 03 2023;initiator methionine: for 60115 removed on Fri Aug 15 2025;initiator methionine:1 for 60115 added on Fri Aug 15 2025 |
| _displayName | UniProt:P21359 NF1 |
| _timestamp | 2025-08-15 21:09:10 |
| chain | initiator methionine:1 chain:2-2839 chain:2-1305 |
| checksum | C079475139DBD51E |
| comment | FUNCTION Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.SUBUNIT Interacts with HTR6 (PubMed:23027611). Interacts with SPRED2 (PubMed:34626534).INTERACTION Experimental confirmation may be lacking for some isoforms.TISSUE SPECIFICITY Detected in brain, peripheral nerve, lung, colon and muscle.DOMAIN Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol.PTM Ubiquitinated by RNF7/RBX2, leading to its degradation.RNA EDITING The stop codon (UGA) at position 1306 is created by RNA editing. Various levels of RNA editing occurs in peripheral nerve-sheath tumor samples (PNSTs) from patients with NF1. Preferentially observed in transcripts containing exon 23A.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The gene represented in this entry may be involved in disease pathogenesis.CAUTION Was originally thought to be associated with LEOPARD (LS), an autosomal dominant syndrome.SEQUENCE CAUTION Truncated N-terminus.ONLINE INFORMATION Leiden Open Variation Database (LOVD) |
| description | recommendedName: Neurofibromin alternativeName: Neurofibromatosis-related protein NF-1 component recommendedName: Neurofibromin truncated /component |
| geneName | NF1 |
| identifier | P21359 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Cell membrane Disease variant GTPase activation Lipid-binding Membrane Nucleus Phosphoprotein Proteomics identification Reference proteome RNA editing Tumor suppressor Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | NF1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9001295] ENSEMBL:ENSG00000196712 NF1 [Homo sapiens] |
| secondaryIdentifier | NF1_HUMAN O00662 Q14284 Q14930 Q14931 Q9UMK3 |
| sequenceLength | 2839 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:150962] UniProt:P21359-2 NF1 [Homo sapiens] [ReferenceIsoform:150963] UniProt:P21359-3 NF1 [Homo sapiens] [ReferenceIsoform:150964] UniProt:P21359-4 NF1 [Homo sapiens] [ReferenceIsoform:403279] UniProt:P21359-1 NF1 [Homo sapiens] [ReferenceIsoform:8977511] UniProt:P21359-5 NF1 [Homo sapiens] [ReferenceIsoform:8977512] UniProt:P21359-6 NF1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:947770] NF1(2-2839) [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5658418] ub-NF1(2-2839) [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6802410] NF1 F1464L [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6802414] NF1 K1444E [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6802417] NF1 L1187I [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6802420] NF1 R1276P [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6802421] NF1 R1412S [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6802424] NF1 R816* [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9647468] NF1 Q616Gfs*4 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9647473] NF1 R1241* [cytosol] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:5658422] ubiquitinylated lysine at unknown position [ReplacedResidue:6802408] L-phenylalanine 1464 replaced with L-leucine [ReplacedResidue:6802413] L-lysine 1444 replaced with L-glutamic acid [ReplacedResidue:6802415] L-leucine 1187 replaced with L-isoleucine [ReplacedResidue:6802419] L-arginine 1276 replaced with L-proline [ReplacedResidue:6802422] L-arginine 1412 replaced with L-serine [NonsenseMutation:6802425] Nonsense mutation at L-arginine 816 [NonsenseMutation:9647413] Nonsense mutation at L-arginine 1241 [ReplacedResidue:9647414] L-arginine 1276 replaced with L-glutamine [ReplacedResidue:9647416] L-arginine 1276 replaced with L-leucine |
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No pathways have been reviewed or authored by UniProt:P21359 NF1 (60115)
