1NF1


Conserved Protein Domain Family
RasGAP_Neurofibromin

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cd05130: RasGAP_Neurofibromin 
Click on image for an interactive view with Cn3D
Ras-GTPase Activating Domain of neurofibromin
Neurofibromin is the product of the neurofibromatosis type 1 gene (NF1) and shares a region of similarity with catalytic domain of the mammalian p120RasGAP protein and an extended similarity with the Saccharomyces cerevisiae RasGAP proteins Ira1 and Ira2. Neurofibromin has been shown to function as a GAP (GTPase-activating protein) which inhibits low molecular weight G proteins such as Ras by stimulating their intrinsic GTPase activity. NF1 is a common genetic disorder characterized by various symptoms ranging from predisposition for the development of tumors to learning disability or mental retardation. Loss of neurofibromin activity can be correlated to the increase in Ras-GTP concentration in neurofibromas of NF1 of patients, supporting the notion that unregulated Ras signaling may contribute to their development.
Statistics
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PSSM-Id: 213332
Aligned: 16 rows
Threshold Bit Score: 458.71
Created: 4-Jun-2007
Updated: 2-Oct-2020
Structure
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Program:
Drawing:
Aligned Rows:
 
putative RAS
Conserved site includes 22 residues -Click on image for an interactive view with Cn3D
Feature 1:putative RAS interface [polypeptide binding site]
Evidence:

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
Feature 1                                               #                                     # # 
1NF1_A          1 ETVLADRFERLVELVTMMGDQGELPIAMALANVVPcsqWDELARVLVTLFDsrHLLYQLLWNMFSKEVEl--aDSMQTLF 78   human
XP_002734096  216 ETVLNDRFERLVELVTMMGDRGELPIAMALASVVPssqMDELARVFVTLFDakHLLYQLLWNMFSKEVEv--aDCMQTLF 293  Saccoglossus ...
XP_002936865 1143 ETVLADRFERLVELVTMMGDQGELPIAMALANVVPcsqWDELARVLVTLFDsrHLLYQLLWNMFSKEVEl--aDSMQTLF 1220 western clawe...
XP_002121778  174 DSVSTERFERLVELVTMMGDNGELPIANALANVVHtsyMDELARVFVTLFDakHLLYQLLWNMFTKEVEe--aDSVQTLF 251  Ciona intesti...
CCD77437     1213 ETALAERYERLVGLVTMVGENGELPIAMALTQVVScnnMDELARVLVTLFDakQLLCQLFCNVFSKEVT----DSMQSPL 1288 Schistosoma m...
XP_002168194  830 ETVLEDRFERIIQLVTNNGNSDDIPIVMALCNSVTiddMDDVAKVLVNLFNmkGILHVLLMNLFKDEVEk--tETQQTLF 907  green hydra
XP_002115170 1060 ETASSDRFEKFINLFMTTLKDSKLPLVLALINGVShsqLDELCQALIPLSEakSELDTLLLNVFGREVTs--sDDVNTLF 1137 Trichoplax ad...
XP_003387903 1187 DTALADRYNQLLELVTVETEDGEHPIMVALINSVPfdnLDELAEVLVVLFDykNKLPSFLTQILLTEVDalesGKLDTLF 1266 Amphimedon qu...
EFB26149      910 ETVLADRFERLVELVTMMGDQGELPIAMALANVVPcsqWDELARVLVTLFDsrHLLYQLLWNMFSKEVEl--aDSMQTLF 987  giant panda
XP_003227931  925 ETVLADRFERLVELVTMMGDQGELPIAMALANVVPcsqWDELARVLVTLFDsrHLLYQLLWNMFSKEVEl--aDSMQTLF 1002 green anole
Feature 1         ## #  #   #                                                                     
1NF1_A         79 RGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDwqhvSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSS 158  human
XP_002734096  294 RGNSLASKIMAFCFKVYGSSYLHTLLEPLVKEMLTPERqn-iSYEVDPTRLEPGEVIEENRSNLMTLTKRFFTAIISSAD 372  Saccoglossus ...
XP_002936865 1221 RGNSLASKIMTFCFKVYGATYLQKLLEPLLRTFITSPEwqyvSFEVDSTRLEGNELLEENQRRLLQMTEKFFHAIINSTN 1300 western clawe...
XP_002121778  252 RGNSLASKIMTFCFKVYGASYLHNLVEPLVAWSLTQDIvn-lHFEVDQKRIPPGYDILQCRANLQRLTERFFTRIMTSTD 330  Ciona intesti...
CCD77437     1289 RGNTMTSKIMNYCFKQFGRDYLQSVLDMTKFNQNKSNL----SYEVDPRLLQSNENLEDNQNNLIFATELLYKKLIKSVD 1364 Schistosoma m...
XP_002168194  908 RGNTIASKVMSYSFKIYGGNFLQLLLGPLITEMIKHSDg--kSYEVDSARLENNENIGDNTQSVIELANGFMDKVKELKN 985  green hydra
XP_002115170 1138 RGNTVASKMMTFCCNTFGKEYLVSIIDKVLDYICSSDRvd-hSYEVDPTRINGEENVETNSVNLINLAKNVLNIILSSAH 1216 Trichoplax ad...
XP_003387903 1267 RGNTMACKVLSVAFKTFGLYYLQSVLRPLILNLMKTRDc---DYEVDPMRMQDRSKLESNQSHLLEVVKSFYDTILSSLP 1343 Amphimedon qu...
EFB26149      988 RGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDwqhvSFEVDPTRLEQSESLEENQRNLLQMTEKFFHAIISSSS 1067 giant panda
XP_003227931 1003 RGNSLASKIMTFCFKVYGATYLQKLLEPLLRTIITSFEwqhvSFEVDPTRLESSETLENNQQSLLQMTEKFFHAIINSSA 1082 green anole
Feature 1                                                       #       ##  ##  #                 
1NF1_A        159 EFPPQLRSVCHCLYQVVSQRFPq--------------------nSIGAVGSAMFLRFINPAIVSPYEAGILDKKpp---p 215  human
XP_002734096  373 EFPPQLRSVCHCLYQVVSQRFPq--------------------hSIGAVGSAVFLRFINPALVSPVEYGILEQQpp---n 429  Saccoglossus ...
XP_002936865 1301 EFPTQLRSVCHCLYQATCHSLLska----------------tvkEKKENKKSILQSIANHVLFTKEEHMRPFNE------ 1358 western clawe...
XP_002121778  331 KFPPQLKSVCHCLYQVVSQRFHe--------------------sGTGAVASAIFLRFLNPAIATPYEYGLSDRRlp---p 387  Ciona intesti...
CCD77437     1365 SFPSRLRCMCRCLYKLIGHLGYvnqs---------------ndqALNVLSTVVFLRFINPAVVSPYESGILDFEpp---s 1426 Schistosoma m...
XP_002168194  986 EFPMQLKSLCYCLNKAVQTRFPs--------------------sAYDAVASAVFLRFINPAIVSPDTHGIISEVvp---k 1042 green hydra
XP_002115170 1217 MLPSQLKSACHCLYEVAESRFPq--------------------sGLSAVSNAIFLRFLNPAIVSPLSIGSKKREis---l 1273 Trichoplax ad...
XP_003387903 1344 SLPLQLRTVCHILYQVVVGRLDe--------------------eGLDTVNSAIFLRFINPAIVSPSSYNLVQGEip---s 1400 Amphimedon qu...
EFB26149     1068 EFPPQLRSVCHCLYQILQSIANhv-------------------lFTKEEHMRPFNDFVKSNFDAARRFFLDIASdcptsd 1128 giant panda
XP_003227931 1083 EFPPQLRSVCHCLYQATCHSLLnkatvkekkenkksvtsgfpqnSIGAVGSAMFLRFINPAIVSPYEPGILDKKpl---p 1159 green anole
Feature 1               #  ##  #   # #    ##                                                      
1NF1_A        216 IIERGLKLMSKILQSIANHVLFt-KEEHMRPF---------NDFVKSNFDAARRFFLDIASDCPTSDAVNHS------LS 279  human
XP_002734096  430 RVKRGLMLMSKIMQSIANHVPFt-KQQHMLIF---------NDFLKNNFDSGRKFFQEIASDCQTIDSNNHS------LS 493  Saccoglossus ...
XP_002936865 1359 FVKSNFDAARRFFFDIANNCPPsdTVNHSLSFitdgnvlalHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKma--tlLA 1436 western clawe...
XP_002121778  388 NLARAFKFMCKIMQNIANHVVFt-KEEHMKHF---------NEFVSARFDVCQQFFMQISTPECASVESSGQs-----TS 452  Ciona intesti...
CCD77437     1427 RVKRGLILIGKMMQNIANQLLFt-KEPHMRIF---------DSVLQKHFESCRQFFKVCGGGCGVGGGGGSCm-----IS 1491 Schistosoma m...
XP_002168194 1043 SVRRGLMLLSKILQNLANHLYFs-KEAHMEVF---------NGFLENSFYRMQSFFRDIAVKPGDKEEASVI------LT 1106 green hydra
XP_002115170 1274 KSVRGLKLASKILQNCANQVLFa-KEHHMLPF---------NDFLTNHFNAIKEFLLNISSEKGNKVGDKAD------LA 1337 Trichoplax ad...
XP_003387903 1401 NARRALTLISKVLQNLANHVLFk-KEAHMKVF---------NEFLANNFEKSRDLACSMASMGPYLDGEAVEy-----IA 1465 Amphimedon qu...
EFB26149     1129 AVNHSLSFISDGNVLALHRLLWn-NQEKIGQY---------LSSNRDHKAVGRRPFDKMATLLAYLGPPEHK------PV 1192 giant panda
XP_003227931 1160 RIERGLKLMSKVKKKALVFSTP--LVAFSLEV---------VVTVAAFVEAFAEGIAGVVTDGAFVVAFVVVfvvvivVV 1228 green anole
Feature 1                                                               
1NF1_A        280 FISDGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEH 333  human
XP_002734096  494 IHCDANVLALHRLLWNNQEKIGGYLSSSRDHRAVGRRPFDKMATLLAYLGPPEH 547  Saccoglossus kowalevskii
XP_002936865 1437 YLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQVHEKEEFKALKTLNIFYQAGT 1490 western clawed frog
XP_002121778  453 FMNDTNVSALHRLLWNDQEKIGRYLAKSRWGWWNAKAVGRRPFDKMVTLLAYIG 506  Ciona intestinalis
CCD77437     1492 FISDDLIHALHRLLFTNQSKIGDYLASNRDWKAVGRQPYDKMVTLLAHLGPPGH 1545 Schistosoma mansoni
XP_002168194 1107 LASDSNVLTLHKLLWFSQEKMGRYLAMFRGAAARDPYEKLVTLLAHLGPPENQT 1160 green hydra
XP_002115170 1338 FVNDSLIYSLYSIVFDNQEQITQYFAANRGSRCNKSRELLDQLSILLAQLGPPK 1391 Trichoplax adhaerens
XP_003387903 1466 FLKEAYKYRLHSLLWNNQDRVASYAASTRASITVRPLFHQLNTLLAQLGAPNTP 1519 Amphimedon queenslandica
EFB26149     1193 ADTHWSSLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYY 1246 giant panda
XP_003227931 1229 FVVVIVENVAGVVMFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHAGPSN 1282 green anole

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