| Gene Information | |
|---|---|
| Gene Name | NF1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 2839 |
| Protein Names | Neurofibromin (Neurofibromatosis-related protein NF-1) [Cleaved into: Neurofibromin truncated] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1488 ( ENSG00000196712 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | NA |
| Gene Card | NF1 |
| Uniprot ID | P21359 |
| Pfam | PF13716; PF00616 |
| In ASD | no |
| Allosteric Prediction | yes (1.051733669) |
| Ortholog in Animals | Alpaca_ NF1 ( ortholog_one2one ) GuineaPig_ NF1 ( ortholog_one2one ) Macaque_ NF1 ( ortholog_one2one ) Mouse_ Nf1 ( ortholog_one2one ) Pig_ NF1 ( ortholog_one2one ) Rat_ Nf1 ( ortholog_one2one ) Rabbit_ NF1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | SYNGAP1, DAB2IP, RASAL1, RASA3, RASA1, RASA2, RASA4, RASA4B, RASAL2, RASAL3 |
| Tissue | NA |
| Tissue Specificity | Detected in brain, peripheral nerve, lung, colon and muscle. {ECO:0000269|PubMed:8417346}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.085329(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1NF1 (X-ray 2.50A ) 2D4Q (X-ray 2.30A ) 2E2X (X-ray 2.50A ) 3P7Z (X-ray 2.65A ) 3PEG (X-ray 2.52A ) 3PG7 (X-ray 2.19A ) 6OB2 (X-ray 2.85A ) 6OB3 (X-ray 2.10A ) 6V65 (X-ray 2.76A ) 6V6F (X-ray 2.54A ) 7MOC (EM 4.56A ) 7MP5 (EM 5.60A ) 7MP6 (EM 6.25A ) 7PGP (EM 3.10A ) 7PGR (EM 4.00A ) 7PGS (EM 3.40A ) 7PGT (EM 4.80A ) 7PGU (EM 3.30A ) 7R03 (EM 3.60A ) 7R04 (EM 3.70A ) |
| DBSNP | rs199474725 rs199474726 rs4795581 rs4795581 rs199474729 rs199474728 rs199474731 rs199474734 rs199474744 rs199474752 rs112306990 rs1567820771 rs199474753 rs199474756 rs199474735 rs199474767 rs199474736 rs199474773 rs137854563 rs199474768 rs199474769 rs137854557 rs199474757 rs137854558 rs199474770 rs199474737 rs199474758 rs199474774 rs199474759 rs199474760 rs142712751 rs199474738 rs145891889 rs17881753 rs199474761 rs199474727 rs199474762 rs199474777 rs199474771 rs199474745 rs199474746 rs199474763 rs199474778 rs199474730 rs199474785 rs137854566 rs137854566 rs199474747 rs199474748 rs199474739 rs199474786 rs199474775 rs199474749 rs137854553 rs199474740 rs199474779 rs199474764 rs199474787 rs752039618 rs199474780 rs199474741 rs199474732 rs199474732 rs137854564 rs199474765 rs199474742 rs137854556 rs137854556 rs199474789 rs137854554 rs17884349 rs199474790 rs199474788 rs137854550 rs199474750 rs199474781 rs199474733 rs199474754 rs199474755 rs267606607 rs199474772 rs199474743 rs199474766 rs1060500316 rs199474782 rs199474791 rs199474792 rs199474751 rs199474783 rs137854561 rs1597843129 rs137854551 rs267606598 rs199474776 rs199474784 rs149055633 rs2230850 rs199474793 rs1597829901 rs1304057833 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:14988005}. Nucleus, nucleolus {ECO:0000269|PubMed:14988005}. Cell membrane {ECO:0000269|PubMed:34626534}. |
| Mouse PG classification | HPG |
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