2ILR


Conserved Protein Domain Family
FANCE_c-term

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cd07439: FANCE_c-term 
Click on image for an interactive view with Cn3D
Fanconi anemia complementation group E protein, C-terminal domain
Fanconi Anemia (FA) is an autosomal recessive disorder associated with increased susceptibility to various cancers, bone marrow failure, cardiac, renal, and limb malformations, and other characteristics. Cells are highly sensitive to DNA damaging agents. A multi-subunit protein complex, the FA core complex, is responsible for ubiquitination of the protein FANCD2 in response to DNA damage. This monoubiquitination results in a downstream effect on homology-directed DNA repair. FANCE is part of the FA core complex and its C-terminal domain, which is modeled here, has been shown to directly interact with FANCD2. The domain contains a five-fold repeat of a structural unit similar to ARM and HEAT repeats. FANCE appears conserved in metazoa and in plants.
Statistics
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PSSM-Id: 143633
View PSSM: cd07439
Aligned: 14 rows
Threshold Bit Score: 221.438
Threshold Setting Gi: 223996457
Created: 30-Sep-2009
Updated: 17-Jan-2013
Structure
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Program:
Drawing:
Aligned Rows:
 
disease-assoc..predicted
Conserved site includes 4 residues -Click on image for an interactive view with Cn3D
Feature 1:disease-associated mutation sites
Evidence:
  • Comment:disease-associated missense mutations at these sites in the human FANCE sequence have been reported (Fanconi Anaemia Mutation Database)

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
                         10        20        30        40        50        60        70        80
                 ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
Feature 1                                                                                        
2ILR_A         6 LELPKAIQDQLPRLQQLLKTLeegleg---ledapPVELQLLHECSP---SQMDLLCAQLQLpq----lsDLGLLRLCTW 75
gi 225708268 289 NSLPDHIKGSTSQIKELLENKmewd-------qssVDVLKVLNECDP---PQMEVLCGMLRLse----lpEQTLLPLCSA 354
gi 95147322  249 KNLPDHMKAALPVIKELLDAEsewd-------dssVSALKVLHECDP---NEVEVLCSVLCLse----vsEQCLPQFCSC 314
gi 157342662 173 FESSSKTGGLAVQIHELCLQRgg----------dsFAILGLIEPWKAd-dEAASVLISHLSDgse--eelGWPSQVVCSI 239
gi 156383278 313 DPVEPFIKEKGEALKQLCLTLsdag------ntgaNEELNALESFLElptDKLETICRYAYIec----inEQVFCILCQM 382
gi 219505225  41 DWLPSVLEEKLKDGRFGASQYhlpsnnvvplqvefGSEYQFFASCSP---QQMESACCELLKlg----lsEVVMCGACYF 113
gi 15233616  239 FESTSEVLTLCNDIRRLCLEKgk----------dsLRVLALIEPWNAd-dETAAVLLSSLHNgsee-eelGWPSHVLCSI 306
gi 125555811 232 AESILVAQRVAKDLQQLCVESgn-----------aEAVLSIVQPWKAd-dDTVRVLLSSLVLdgdg-mhrKGPALMLCSL 298
gi 195997831 307 SVARSNIGDVCEKLKELLMYEneiliqk-mdepdyQDSFISFLTSSF---DEMQIICQQIQLnqvsleklATISRLYCYH 382
gi 241813643 101 AELPEEIQLGIAKIKESLHCSdgs--------aadLLDLRFLATANP---ETVAAVCDEMETes----vsDAKMAALLRS 165
                         90       100       110       120       130       140       150       160
                 ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
Feature 1                 #        #     #                                                       
2ILR_A        76 LLALsp-dlSLSNATVLTRSLFLGRIlslt-ssasRLLTTALTSFAAKYt---yPVCSALLDPVLQAPg---tGPAQTEL 147
gi 225708268 355 LLTLsp-dlSYSSAVTLIRHLLLTKVvsls-eaasRCLVSAVKSLCSRYp---rPTCHALIGPVLQQGr---tGNAQAVL 426
gi 95147322  315 LLKLap-dlSHSTASALITHLLLKKIlsla-epasRCLVTAVTSLCSRYp---rPTCQALIEPLLQKGq---lGSAQADL 386
gi 157342662 240 ILPKllvleEPASRVLVTATIEYCKLhq------rAAVYGLLFPLLLRRgginnPICDVVVRIIKECLhpahvSAFFQKL 313
gi 156383278 383 FLSLpw-epSFANTCTFARCCILPQLrqln-qaasRILITAVISFAKKNp---kPLCEAVFAPLIKDPs---fNTFQAET 454
gi 219505225 114 MAQVtp-ppSHTNCCVFIRQCLLPQLpdtenesasRTLSAAMVEFARKYp---rPFVETAVMPLLTRMg---eGSWLWDV 186
gi 15233616  307 VLPKflsleKSASRVLMSSTIEFCKIhq------rAAEYALVFPLILRKeginnFICEVISRVLKECLhlgqiSGFCQKL 380
gi 125555811 299 FLPKlleiqRPVSSVLLSAALDLCKRhp------aAALEAILLPLVLRKeglnvPQCDVLTRIVKDCMhplhvTAFCHRL 372
gi 195997831 383 HLNA-----NLDNCRIFCQLSIYPHLsvln-ssapRELFYCIECFLKRYs---ePFIDGCCLQLWNNEl----QPAQVEL 449
gi 241813643 166 FVELks-etSLINGVVFTKRALLPKIeswkessapRLLVESIAAFVTALp---qVSVEGLLVPLAQLAh---pGKAQGEV 238
                        170       180       190       200       210       220       230       240
                 ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
Feature 1                                                                                        
2ILR_A       148 LCCLVKmesl-epdAQVLMLGQILELp--------WKEETFLVLQSLLERQveMTPEKFSVLMEKLCKkgLAATTSMAYA 218
gi 225708268 427 FNRLIEdcf--ephYRLLLFEMTLKVv--------WSEELLTVIHGLLDSKlgLNEELFTQFTEQLNSqaHLFTKSMKFA 496
gi 95147322  387 LCRLVIdcl--ephHRLLVFRTALGAs--------WDEGVLSVIHALLDSKleLSQEDFCLFAEHLCSqsPHFSKSMKFA 456
gi 157342662 314 LCEEEHvr-----sFICLPCHQYLISne-----lvWTESLFNLLQNILNHNvhLTQDSIDHLVYRVQElaEAFSKSLKFG 383
gi 156383278 455 ICRILKdafcsvssQHLLSFIVKEGApnt---kynWSEEILTVIQAILESKpvFEEGLYSSFLQTLDNqsARFSKSLKFS 531
gi 219505225 187 LNKLVTepd--tqqQDLVSILQVLYGae------tWSESTVALLQTVVNQKppLDTTSLSDLTTATQGqaEKLNSNLKFT 258
gi 15233616  381 LCGRTQer-----rFMFLPCHRDLISde-----ltWNEYLFILFQNILIHGipLSQDSVDCLVSKVQElaERYSKSLKFG 450
gi 125555811 373 LSGDERew-----rPVCMPEHRSNISsn-----lvWTESLFALLYSILNQDicLTSSSTENLVSVIDEmaSKLPRSLKFG 442
gi 195997831 450 IKTLIEtsf--sqdNCFYFLTQIIQKhhnntnkskWDENHYIVIQGIIQKRlkLDSKTILELLSILYQnaLDMASSTNFI 527
gi 241813643 239 LQAAAKegi--pkdYAPLCLRRILQEsk------aNTEAMIGLIHCLVSKRg-PLEGVLPELVGWLLAakEEHSGDARFA 309
                        250       260       270       280
                 ....*....|....*....|....*....|....*....|...
Feature 1                   #                               
2ILR_A       219 KLMLTVMTKYQAniTETQRLGLAMALEPnTTFLRKSLKAALKH 261
gi 225708268 497 KMMLTVLTKYNNhvTLAHKQSLSCCLSSsETFLKKSLQAALKR 539
gi 95147322  457 KMLLSVLTKYQSnvNPACHHTLSSVLSFnETFLKKSLQAALKR 499
gi 157342662 384 NFLLCLVTKCSPf-LKSYKISLTEAVEHtNTLVTKSILSKLSV 425
gi 156383278 532 KMLLEVINKNKQl-AAGHRQLLLGITERcETFLKKALITAVKK 573
gi 219505225 259 KLVLAIIKTYGKemSQDDVRRFTMVLDCnQTFLKRAASAALKR 301
gi 15233616  451 NFLLHFTAKCAPm-LQAHKYQLIESVKCtNSLVTKSILSKLNA 492
gi 125555811 443 NFLLCFISKCWRv-SKIHSVLLERAAEKtDTFLTKAILAKLRT 484
gi 195997831 528 TLIINIINNYKEq-IIPYTDLLYQILQNnKTLLKRSTLAKLKR 569
gi 241813643 310 KLLVDFLSICGPqmSPDQLESMSGVVGAnRTFLKKPIENVFRK 352

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