NF1_HUMAN
Source: PM19886704Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: NF1
Protein names and data: NF1_HUMAN , Neurofibromin , Neurofibromatosis-related protein NF-1; Neurofibromin truncated Lenght: 2839 a.a.
Mass: 319372 Da
fasta formatted sequence
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.
Disease: ( OMIM: 114500 162200 162210 193520 601321 607785 613113 ) Neurofibromatosis 1 (NF1) [MIM:162200]: A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. Note=The disease is caused by mutations affecting the gene represented in this entry. Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry. Watson syndrome (WS) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis. Note=The disease is caused by mutations affecting the gene represented in this entry. Familial spinal neurofibromatosis (FSNF) [MIM:162210]: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. Note=The disease is caused by mutations affecting the gene represented in this entry. Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]: Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. Note=The disease is caused by mutations affecting the gene represented in this entry. Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis.
Tissue specificity: Detected in brain, peripheral nerve, lung, colon and muscle.
Genetic variants
31 - 31 H -> R (in NF1; dbSNP:rs199474725). VAR_032459 19947472574 - 74 A -> D (in mismatch repair deficient cancer cells; dbSNP:rs199474726). VAR_017550 199474726
80 - 80 Y -> C. VAR_022254
80 - 80 Y -> S (in dbSNP:rs4795581). VAR_049135 4795581
82 - 82 S -> F (in NF1; dbSNP:rs199474729). VAR_021730 199474729
93 - 93 C -> Y (in NF1; dbSNP:rs199474728). VAR_017551 199474728
117 - 117 I -> S (in NF1; dbSNP:rs199474731). VAR_010989 199474731
145 - 145 L -> P (in NF1; dbSNP:rs199474734). VAR_032460 199474734
157 - 157 I -> N (in NF1; dbSNP:rs199474744). VAR_021731 199474744
160 - 160 R -> T (in NF1; dbSNP:rs199474752). VAR_065888 199474752
176 - 176 D -> E (found in mismatch repair deficient cancer cells; also found in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation; dbSNP:rs112306990). VAR_017552 112306990
186 - 186 D -> V (in NF1; reduced splicing enhancement). VAR_032461
194 - 194 L -> R (in NFNS; dbSNP:rs199474753). VAR_032462 199474753
216 - 216 L -> P (in NF1; dbSNP:rs199474756). VAR_021732 199474756
324 - 324 C -> R (in NF1; dbSNP:rs199474735). VAR_032463 199474735
330 - 330 A -> T (in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation; dbSNP:rs199474767). VAR_067201 199474767
337 - 337 E -> V (in NF1; dbSNP:rs199474736). VAR_032464 199474736
338 - 338 D -> G (in NF1; dbSNP:rs199474773). VAR_010990 199474773
357 - 357 L -> P (in NF1; dbSNP:rs137854563). VAR_021733 137854563
393 - 393 H -> D (in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation; dbSNP:rs199474768). VAR_067202 199474768
393 - 393 H -> L (in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation; dbSNP:rs199474769). VAR_067203 199474769
489 - 489 Y -> C (in NF1; dbSNP:rs137854557). VAR_032465 137854557
491 - 491 Y -> C (in NF1; dbSNP:rs199474757). VAR_021734 199474757
508 - 508 L -> P (in NF1; dbSNP:rs137854558). VAR_010991 137854558
519 - 519 Q -> P (in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation; dbSNP:rs199474770). VAR_067204 199474770
532 - 532 L -> P (in NF1; dbSNP:rs199474737). VAR_032466 199474737
549 - 549 L -> P (in NF1; dbSNP:rs199474758). VAR_021735 199474758
574 - 574 S -> R (in NF1). VAR_032467
578 - 578 L -> R (in NF1; dbSNP:rs199474774). VAR_021736 199474774
581 - 581 I -> T (in NF1; dbSNP:rs199474759). VAR_021737 199474759
583 - 583 K -> R (in NF1; dbSNP:rs199474760). VAR_021738 199474760
604 - 604 L -> V (in NF1; dbSNP:rs142712751). VAR_017553 142712751
629 - 629 G -> R (in NF1; affects splicing by creating a novel splice acceptor site; dbSNP:rs199474738). VAR_002653 199474738
665 - 665 S -> F (in NF1; unknown pathological significance; dbSNP:rs145891889). VAR_021739 145891889
678 - 678 P -> L (in dbSNP:rs17881753). VAR_022255 17881753
695 - 695 L -> P (in NF1; dbSNP:rs199474761). VAR_021740 199474761
712 - 712 H -> R (in mismatch repair deficient cancer cells; dbSNP:rs199474727). VAR_017554 199474727
763 - 763 L -> P (in NF1; dbSNP:rs199474762). VAR_021741 199474762
765 - 765 R -> H (in dbSNP:rs199474777). VAR_021742 199474777
776 - 776 A -> T (in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation; dbSNP:rs199474771). VAR_067205 199474771
777 - 777 W -> S (in NF1; dbSNP:rs199474745). VAR_021743 199474745
780 - 780 T -> K (in NF1; dbSNP:rs199474746). VAR_021744 199474746
781 - 781 H -> P (in NF1; dbSNP:rs199474763). VAR_021745 199474763
784 - 784 W -> C (in NF1; dbSNP:rs199474778). VAR_021746 199474778
784 - 784 W -> R (in NF1; dbSNP:rs199474730). VAR_021747 199474730
844 - 844 L -> F (in NF1; dbSNP:rs199474785). VAR_010992 199474785
844 - 844 L -> P (in NF1; dbSNP:rs137854566). VAR_032468 137854566
844 - 844 L -> R (in NF1; sporadic; dbSNP:rs137854566). VAR_002654 137854566
847 - 847 L -> P (in NF1; dbSNP:rs199474747). VAR_021748 199474747
848 - 848 G -> E (in NF1; dbSNP:rs199474748). VAR_021749 199474748
873 - 873 R -> C (in dbSNP:rs199474739). VAR_032469 199474739
898 - 898 L -> P (in NF1; sporadic; dbSNP:rs199474786). VAR_002655 199474786
920 - 920 L -> P (in NF1; patient with cafe-au-lait spots; may be a distinct form of NF1; dbSNP:rs199474775). VAR_021750 199474775
968 - 968 M -> R (in NF1; dbSNP:rs199474749). VAR_021751 199474749
991 - 991 Missing (in NF1). VAR_002656
1035 - 1035 M -> R (in NF1; dbSNP:rs137854553). VAR_002657 137854553
1073 - 1073 M -> V (in NF1; dbSNP:rs199474740). VAR_032470 199474740
1147 - 1147 L -> P (in NF1; dbSNP:rs199474779). VAR_021752 199474779
1156 - 1156 N -> S (in NF1; dbSNP:rs199474764). VAR_021753 199474764
1166 - 1166 G -> D (in NF1; dbSNP:rs199474787). VAR_010993 199474787
1187 - 1187 L -> I (in a colorectal cancer sample; somatic mutation). VAR_035543
1193 - 1193 F -> C (in NF1; dbSNP:rs199474780). VAR_021754 199474780
1196 - 1196 L -> R (in NF1; dbSNP:rs199474741). VAR_032471 199474741
1204 - 1204 R -> G (in NF1; dbSNP:rs199474732). VAR_021755 199474732
1204 - 1204 R -> W (in NF1; dbSNP:rs199474732). VAR_010994 199474732
1243 - 1243 L -> P (in NF1; with neurofibromatous neuropathy; dbSNP:rs137854564). VAR_032472 137854564
1250 - 1250 R -> P (in NF1; dbSNP:rs199474765). VAR_021756 199474765
1276 - 1276 R -> G (in NF1; dbSNP:rs199474742). VAR_032473 199474742
1276 - 1276 R -> P (in NF1; complete loss of GAP activity; dbSNP:rs137854556). VAR_010995 137854556
1276 - 1276 R -> Q (in NF1 and mismatch repair deficient cancer cells; dbSNP:rs137854556). VAR_017555 137854556
1411 - 1411 L -> F (in NFNS; dbSNP:rs199474789). VAR_065236 199474789
1412 - 1412 R -> S (in NF1; significant reduction of GAP activity; dbSNP:rs137854554). VAR_010996 137854554
1422 - 1422 Y -> H (in dbSNP:rs17884349). VAR_022256 17884349
1430 - 1430 K -> E (in NF1). VAR_032474
1440 - 1440 K -> Q (in NF1; dbSNP:rs199474790). VAR_010997 199474790
1440 - 1440 K -> R (in NF1; dbSNP:rs199474788). VAR_002658 199474788
1444 - 1444 K -> E (in NF1 and NFNS; significant reduction of intrinsic GAP activity; dbSNP:rs137854550). VAR_002659 137854550
1444 - 1444 K -> N (in NF1; dbSNP:rs199474750). VAR_021757 199474750
1444 - 1444 K -> R (in NF1; dbSNP:rs199474781). VAR_021758 199474781
1446 - 1446 L -> P (in NF1; dbSNP:rs199474733). VAR_008129 199474733
1451 - 1451 N -> T (in NFNS; dbSNP:rs199474754). VAR_032475 199474754
1453 - 1453 V -> L (in NFNS; dbSNP:rs199474755). VAR_032476 199474755
1459 - 1459 Missing (in NFNS). VAR_032477
1484 - 1484 S -> F (in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation; dbSNP:rs199474772). VAR_067206 199474772
1489 - 1489 S -> G (in NF1; dbSNP:rs199474743). VAR_010998 199474743
1605 - 1605 I -> V (in NF1; reduces protein stability; dbSNP:rs199474766). VAR_021759 199474766
1611 - 1611 R -> W (in NF1). VAR_002660
1733 - 1733 L -> LGHEQQKLPAATLAL (in NF1). VAR_002661
1785 - 1785 A -> S (in NF1; dbSNP:rs199474782). VAR_021760 199474782
1951 - 1951 P -> L (in a colorectal cancer sample; somatic mutation). VAR_035544
1952 - 1952 W -> R (in NF1; dbSNP:rs199474791). VAR_002662 199474791
1953 - 1953 L -> P (in NF1; dbSNP:rs199474792). VAR_002663 199474792
1953 - 1953 Missing (in NF1). VAR_021761
2001 - 2001 G -> R (in NF1; dbSNP:rs199474751). VAR_021762 199474751
2012 - 2012 D -> N (in NF1; dbSNP:rs199474783). VAR_021763 199474783
2088 - 2088 L -> P (in FSNF; null mutation; 50% reduction of protein level; no cafe-au- lait macules; dbSNP:rs137854561). VAR_017669 137854561
2164 - 2164 L -> M (in NF1; dbSNP:rs137854551). VAR_002664 137854551
2192 - 2192 Y -> N (in NF1). VAR_002665
2221 - 2221 P -> A (in NF1; dbSNP:rs199474776). VAR_021764 199474776
2357 - 2357 E -> K (in NF1; dbSNP:rs199474784). VAR_021765 199474784
2387 - 2388 Missing (in NF1). VAR_002666
2507 - 2507 T -> I (in NF1; dbSNP:rs149055633). VAR_021766 149055633
2511 - 2511 V -> L (in dbSNP:rs2230850). VAR_022257 2230850
2631 - 2631 T -> A (in NF1; dbSNP:rs199474793). VAR_002667 199474793
2745 - 2745 G -> R (in a breast cancer sample; somatic mutation). VAR_035545
Database cross-references
UniProt: P21359Ensembl: ENST00000356175
Ensembl: ENST00000358273
Ensembl: ENST00000431387
MIM: 114500
MIM: 162200
MIM: 162210
MIM: 193520
MIM: 601321
MIM: 607785
MIM: 613113
neXtProt: NX_P21359
Antibodypedia: P21359 (may not find the protein thus also not any antibody)
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