2ILR


Conserved Protein Domain Family
FANCE_c-term
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cd07439: FANCE_c-term 
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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.
Links
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Statistics
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PSSM-Id: 143633
Aligned: 14 rows
Threshold Bit Score: 221.438
Created: 30-Sep-2009
Updated: 2-Oct-2020
Structure
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Program:
Drawing:
Aligned Rows:
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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)
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Sequence Alignment
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Format: Row Display: Color Bits: Type Selection: 
Feature 1                                                                                        
2ILR_A         6 LELPKAIQDQLPRLQQLLKTLeegleg---ledapPVELQLLHECSP---SQMDLLCAQLQLpq----lsDLGLLRLCTW 75  human
ACO09980     289 NSLPDHIKGSTSQIKELLENKmewd-------qssVDVLKVLNECDP---PQMEVLCGMLRLse----lpEQTLLPLCSA 354 rainbow smelt
NP_001035724 249 KNLPDHMKAALPVIKELLDAEsewd-------dssVSALKVLHECDP---NEVEVLCSVLCLse----vsEQCLPQFCSC 314 zebrafish
CAO65374     173 FESSSKTGGLAVQIHELCLQRgg----------dsFAILGLIEPWKAd-dEAASVLISHLSDgse--eelGWPSQVVCSI 239 wine grape
XP_001632761 313 DPVEPFIKEKGEALKQLCLTLsdag------ntgaNEELNALESFLElptDKLETICRYAYIec----inEQVFCILCQM 382 starlet sea ane...
XP_002248792  41 DWLPSVLEEKLKDGRFGASQYhlpsnnvvplqvefGSEYQFFASCSP---QQMESACCELLKlg----lsEVVMCGACYF 113 Florida lancelet
NP_194685    239 FESTSEVLTLCNDIRRLCLEKgk----------dsLRVLALIEPWNAd-dETAAVLLSSLHNgsee-eelGWPSHVLCSI 306 thale cress
EAZ01417     232 AESILVAQRVAKDLQQLCVESgn-----------aEAVLSIVQPWKAd-dDTVRVLLSSLVLdgdg-mhrKGPALMLCSL 298 Indian rice
XP_002108784 307 SVARSNIGDVCEKLKELLMYEneiliqk-mdepdyQDSFISFLTSSF---DEMQIICQQIQLnqvsleklATISRLYCYH 382 Trichoplax adha...
XP_002416517 101 AELPEEIQLGIAKIKESLHCSdgs--------aadLLDLRFLATANP---ETVAAVCDEMETes----vsDAKMAALLRS 165 black-legged tick

Feature 1                 #        #     #                                                       
2ILR_A        76 LLALsp-dlSLSNATVLTRSLFLGRIlslt-ssasRLLTTALTSFAAKYt---yPVCSALLDPVLQAPg---tGPAQTEL 147 human
ACO09980     355 LLTLsp-dlSYSSAVTLIRHLLLTKVvsls-eaasRCLVSAVKSLCSRYp---rPTCHALIGPVLQQGr---tGNAQAVL 426 rainbow smelt
NP_001035724 315 LLKLap-dlSHSTASALITHLLLKKIlsla-epasRCLVTAVTSLCSRYp---rPTCQALIEPLLQKGq---lGSAQADL 386 zebrafish
CAO65374     240 ILPKllvleEPASRVLVTATIEYCKLhq------rAAVYGLLFPLLLRRgginnPICDVVVRIIKECLhpahvSAFFQKL 313 wine grape
XP_001632761 383 FLSLpw-epSFANTCTFARCCILPQLrqln-qaasRILITAVISFAKKNp---kPLCEAVFAPLIKDPs---fNTFQAET 454 starlet sea ane...
XP_002248792 114 MAQVtp-ppSHTNCCVFIRQCLLPQLpdtenesasRTLSAAMVEFARKYp---rPFVETAVMPLLTRMg---eGSWLWDV 186 Florida lancelet
NP_194685    307 VLPKflsleKSASRVLMSSTIEFCKIhq------rAAEYALVFPLILRKeginnFICEVISRVLKECLhlgqiSGFCQKL 380 thale cress
EAZ01417     299 FLPKlleiqRPVSSVLLSAALDLCKRhp------aAALEAILLPLVLRKeglnvPQCDVLTRIVKDCMhplhvTAFCHRL 372 Indian rice
XP_002108784 383 HLNA-----NLDNCRIFCQLSIYPHLsvln-ssapRELFYCIECFLKRYs---ePFIDGCCLQLWNNEl----QPAQVEL 449 Trichoplax adha...
XP_002416517 166 FVELks-etSLINGVVFTKRALLPKIeswkessapRLLVESIAAFVTALp---qVSVEGLLVPLAQLAh---pGKAQGEV 238 black-legged tick

Feature 1                                                                                        
2ILR_A       148 LCCLVKmesl-epdAQVLMLGQILELp--------WKEETFLVLQSLLERQveMTPEKFSVLMEKLCKkgLAATTSMAYA 218 human
ACO09980     427 FNRLIEdcf--ephYRLLLFEMTLKVv--------WSEELLTVIHGLLDSKlgLNEELFTQFTEQLNSqaHLFTKSMKFA 496 rainbow smelt
NP_001035724 387 LCRLVIdcl--ephHRLLVFRTALGAs--------WDEGVLSVIHALLDSKleLSQEDFCLFAEHLCSqsPHFSKSMKFA 456 zebrafish
CAO65374     314 LCEEEHvr-----sFICLPCHQYLISne-----lvWTESLFNLLQNILNHNvhLTQDSIDHLVYRVQElaEAFSKSLKFG 383 wine grape
XP_001632761 455 ICRILKdafcsvssQHLLSFIVKEGApnt---kynWSEEILTVIQAILESKpvFEEGLYSSFLQTLDNqsARFSKSLKFS 531 starlet sea ane...
XP_002248792 187 LNKLVTepd--tqqQDLVSILQVLYGae------tWSESTVALLQTVVNQKppLDTTSLSDLTTATQGqaEKLNSNLKFT 258 Florida lancelet
NP_194685    381 LCGRTQer-----rFMFLPCHRDLISde-----ltWNEYLFILFQNILIHGipLSQDSVDCLVSKVQElaERYSKSLKFG 450 thale cress
EAZ01417     373 LSGDERew-----rPVCMPEHRSNISsn-----lvWTESLFALLYSILNQDicLTSSSTENLVSVIDEmaSKLPRSLKFG 442 Indian rice
XP_002108784 450 IKTLIEtsf--sqdNCFYFLTQIIQKhhnntnkskWDENHYIVIQGIIQKRlkLDSKTILELLSILYQnaLDMASSTNFI 527 Trichoplax adha...
XP_002416517 239 LQAAAKegi--pkdYAPLCLRRILQEsk------aNTEAMIGLIHCLVSKRg-PLEGVLPELVGWLLAakEEHSGDARFA 309 black-legged tick

Feature 1                   #                               
2ILR_A       219 KLMLTVMTKYQAniTETQRLGLAMALEPnTTFLRKSLKAALKH 261 human
ACO09980     497 KMMLTVLTKYNNhvTLAHKQSLSCCLSSsETFLKKSLQAALKR 539 rainbow smelt
NP_001035724 457 KMLLSVLTKYQSnvNPACHHTLSSVLSFnETFLKKSLQAALKR 499 zebrafish
CAO65374     384 NFLLCLVTKCSPf-LKSYKISLTEAVEHtNTLVTKSILSKLSV 425 wine grape
XP_001632761 532 KMLLEVINKNKQl-AAGHRQLLLGITERcETFLKKALITAVKK 573 starlet sea anemone
XP_002248792 259 KLVLAIIKTYGKemSQDDVRRFTMVLDCnQTFLKRAASAALKR 301 Florida lancelet
NP_194685    451 NFLLHFTAKCAPm-LQAHKYQLIESVKCtNSLVTKSILSKLNA 492 thale cress
EAZ01417     443 NFLLCFISKCWRv-SKIHSVLLERAAEKtDTFLTKAILAKLRT 484 Indian rice
XP_002108784 528 TLIINIINNYKEq-IIPYTDLLYQILQNnKTLLKRSTLAKLKR 569 Trichoplax adhaerens
XP_002416517 310 KLLVDFLSICGPqmSPDQLESMSGVVGAnRTFLKKPIENVFRK 352 black-legged tick

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