NF1 |
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Structures disponibles |
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PDB | Recherche d'orthologue: PDBe RCSB |
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Identifiants PDB |
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2D4Q, 2E2X, 3P7Z, 3PEG, 3PG7 |
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Identifiants |
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Aliases | NF1 |
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IDs externes | OMIM: 613113 MGI: 97306 HomoloGene: 141252 GeneCards: NF1 |
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Position du gène (Homme) |
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| Chr. | Chromosome 17 humain[1] |
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| Locus | 17q11.2 | Début | 31,094,927 bp[1] |
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Fin | 31,382,116 bp[1] |
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Position du gène (Souris) |
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| Chr. | Chromosome 11 (souris)[2] |
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| Locus | 11 B5|11 46.74 cM | Début | 79,230,519 bp[2] |
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Fin | 79,472,438 bp[2] |
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Expression génétique |
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Bgee | Humain | Souris (orthologue) |
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Fortement exprimé dans | - epithelium of colon
- tendon calcanéen
- secondary oocyte
- ventricular zone
- buccal mucosa cell
- nerf sural
- éminence ganglionnaire
- testicule
- corps calleux
- corpus epididymis
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| Fortement exprimé dans | - spermatocyte
- spermatide
- tail of embryo
- tubercule génital
- lumbar subsegment of spinal cord
- neural layer of retina
- gyrus frontal supérieur
- dentate gyrus of hippocampal formation granule cell
- ventricular zone
- primary visual cortex
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| Plus de données d'expression de référence |
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BioGPS | |
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Gene Ontology |
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Fonction moléculaire | - phosphatidylcholine binding
- liaison protéique
- phosphatidylethanolamine binding
- liaison lipidique
- GTPase activator activity
| Composant cellulaire | - cytosol
- membrane
- intrinsic component of the cytoplasmic side of the plasma membrane
- nucléole
- axone
- dendrite
- présynapse
- cytoplasme
- noyau
| Processus biologique | - cellular response to heat
- regulation of angiogenesis
- negative regulation of cell-matrix adhesion
- positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
- observational learning
- negative regulation of cell population proliferation
- negative regulation of astrocyte differentiation
- regulation of long-term neuronal synaptic plasticity
- regulation of MAPK cascade
- regulation of GTPase activity
- glutamate secretion, neurotransmission
- amygdala development
- negative regulation of Rac protein signal transduction
- neural tube development
- cognition
- negative regulation of cell migration
- régulation de l'expression des gènes
- positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
- negative regulation of neurotransmitter secretion
- positive regulation of endothelial cell proliferation
- gamma-aminobutyric acid secretion, neurotransmission
- negative regulation of osteoclast differentiation
- negative regulation of endothelial cell proliferation
- regulation of blood vessel endothelial cell migration
- regulation of cell population proliferation
- regulation of long-term synaptic potentiation
- negative regulation of angiogenesis
- skeletal muscle tissue development
- regulation of synaptic transmission, GABAergic
- extrinsic apoptotic signaling pathway via death domain receptors
- transduction de signal
- positive regulation of GTPase activity
- Schwann cell development
- adrenal gland development
- spinal cord development
- MAPK cascade
- phosphatidylinositol 3-kinase signaling
- développement du cœur
- positive regulation of neuron apoptotic process
- peripheral nervous system development
- cicatrisation
- sympathetic nervous system development
- osteoblast differentiation
- positive regulation of apoptotic process
- negative regulation of fibroblast proliferation
- forebrain astrocyte development
- metanephros development
- negative regulation of MAP kinase activity
- pigmentation
- liver development
- visual learning
- regulation of glial cell differentiation
- artery morphogenesis
- positive regulation of adenylate cyclase activity
- negative regulation of Ras protein signal transduction
- regulation of bone resorption
- extracellular matrix organization
- actin cytoskeleton organization
- développement du cortex cérébral
- negative regulation of protein kinase activity
- Ras protein signal transduction
- forebrain morphogenesis
- negative regulation of oligodendrocyte differentiation
- regulation of cell-matrix adhesion
- smooth muscle tissue development
- développement cérébral
- collagen fibril organization
- myelination in peripheral nervous system
- camera-type eye morphogenesis
- communication cellulaire
- response to hypoxia
- negative regulation of neuroblast proliferation
- negative regulation of MAPK cascade
- hair follicle maturation
- negative regulation of protein import into nucleus
| Sources:Amigo / QuickGO |
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Orthologues |
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Espèces | Homme | Souris |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_000267 NM_001042492 NM_001128147 |
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RefSeq (protéine) | |
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NP_000258 NP_001035957 NP_001121619 |
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Localisation (UCSC) | Chr 17: 31.09 – 31.38 Mb | Chr 11: 79.23 – 79.47 Mb |
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Publication PubMed | [3] | [4] |
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Wikidata |
Voir/Editer Humain | Voir/Editer Souris |
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