Conserved Protein Domain Family
Tuberin

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pfam03542: Tuberin 
Tuberin
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder and is characterized by the presence of hamartomas in many organs, such as brain, skin, heart, lung, and kidney. It is caused by mutation either TSC1 or TSC2 tumor suppressor gene. The TSC2 gene codes for tuberin and interacts with hamartin pfam04388, containing two coiled-coil regions, which have been shown to mediate binding to tuberin. These two proteins function within the same pathway(s) regulating cell cycle, cell growth, adhesion, and vesicular trafficking.
Statistics
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PSSM-Id: 397554
Aligned: 18 rows
Threshold Bit Score: 433.298
Threshold Setting Gi: 0
Created: 20-May-2020
Updated: 7-Aug-2020
Structure
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Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
EKC33134      569 HQLEDVKTAMLGLVELFKQKLYTDPPSHCLKIYDLLLLHMKHQYTEP-KNFMSHtaVQIRKNVVEVLLYMRADNLYRLGF 647  Pacific oyster
3_pfamImport    1 SVLIAVATTVCGLKKIFLEKFHTPFASHSVAACQMFVELLEKYYEISgFSDEPYvlWESRMDIFDSFFKIRTNSLFQARL 80  
AAI67586      558 SSLEDVKTSVLGLMVILQTKLYILPASHAMRVYEMLINHIQLHYKY---NYSSPiaTSIRLQVFDFLLHLRADSLRRVGL 634  tropical claw...
Q61037        555 ASLEDVKTAVLGLLVILQTKLYTLPASHATRVYESLISHIQLHYKH---GYSLPiaSSIRLQAFDFLLLLRADSLHRLGL 631  house mouse
XP_008197389  543 SDFLDVGVLVPGLVQVFARKIHKLPSSHAVLIYKIFVNFLERNLLKP--PFKEF--NQSRLMIFDCLLNMRADSYCRLGL 618  red flour beetle
XP_001944956  555 NDVADIQTTVEGLSKLFSKFLYKYPTTSADTILTLLITHLRHHYERP-IILEHI--CSIRLVIFDLLVKLRADSRYKLGM 631  pea aphid
EFX68537      558 EELGDVVKCTNGLIELFLVKMYQLPSSHAVQIYKTLVRHANLHYEKP-IYFEFA--LSTKLAVFDFILNITADGDYRLGY 634  common water ...
EDO48432      497 NVLKDVKTAINGLVQVLKVKLFRLPHCHAQQVFGLLVSHVRAHYYH---GYGTIiaSIIRNIAFECFLSLRCDSSQCLGF 573  starlet sea a...
XP_008122202  555 aSLEDVKTAVLGLLVILQTKLYSLPASHATRVYEMLVYHIQLHYKH---KYSLPvaASIRLQVFDFLLSLQADSLHRLGL 631  green anole
XP_022530233  553 SPMEDVKTAILGLLEILQSKLYSLPASHASRVYELLISHVQLHYKN---KYSSAlaSSIRLQVFDFLLLMRADSLHRLGV 629  Mexican tetra
EKC33134      648 IDKNvda--hlAFSPYLSCA-----EVqpnfsemeeee-------nnsittdtvafMWSESAFLDYKKSFSLFLSCLEND 713  Pacific oyster
3_pfamImport   81 SHVR-------CFSPNIICH-----ISeqg-----------------------svqNNTEPVYLPFQRIIQACIQCLEHE 125 
AAI67586      635 PNKdg----afRFSPYCLCE-----SVneqekraaerkpagtlsppsgspsvpsqtVTPRMGFLPFSLAFGVILQCLKQE 705  tropical claw...
Q61037        632 PNKdg----vvRFSPYCLCD-----CMeldrasekkasgpl--spptgppspvpmgPAVRLGYLPYSLLFRVLLQCLKQE 700  house mouse
XP_008197389  619 PDPDtk---qmKYSPYLCVS-----YKpnepivtsp------------pttspsqtPVCKVTFLAIESAFKLLLNYLENE 678  red flour beetle
XP_001944956  632 QGVN-------EYSPYMYVD-----HRglgvppspns---------ltedtkskdkILVQFNYMCLAAACKAVITALKEE 690  pea aphid
EFX68537      635 APLP-------RYSPYILID-----HKhgervggtnrke------irsatedptstVHSQVTQMSLGEACVAVIRCLNQE 696  common water ...
EDO48432      574 ASSEasekgkvTYSSYFVCA-----QSareapdstlgyts----pstleapdstlgYTSPLGVIQYSDAFSVILSCIQYE 644  starlet sea a...
XP_008122202  632 ACKdg----pvRFSPYCLCD-----FVepekkpagplsp------psgspslppqsPAVRTGHLPYSLLFGVLLQCLKQE 696  green anole
XP_022530233  630 PNKdg----vlRFSPYCYCDvggteKRevekkpagtvsp------tagspapaaqpTSIRTAYLPYSLAFNVLLQCLKME 699  Mexican tetra
EKC33134      714 KDWEVLERVLVNLPLLLQNKTLILs--aTHDlINSLCHQLCAMVNDRQLNfpEKLHGTPSGkFTRSDFHTFVFPVLASMV 791  Pacific oyster
3_pfamImport  126 NYWPILQTVLDNICVLLENKHITVcl-sLED-IDTLIEVLSNFVSSTNRI--ATLKSKPEG-FKRADLQLISLNVLTQLT 200 
AAI67586      706 TDWKVLKLVLNKLPECLRYKLLILss-pCN--IDQLAGSLCAMLTDKTAS--DRLYITPDG-FSRTDLQLAVVPVLTALT 779  tropical claw...
Q61037        701 SDWKVLKLVLSRLPESLRYKVLIFts-pCS--VDQLSSALCSMLSAPKTL--ERLRGTPEG-FSRTDLHLAVVPVLTALI 774  house mouse
XP_008197389  679 KDWEILKLVMEKLPKMLGNKAIVLtksgNPD-LNNLVDVLCTMLQNRSLN------LSEVK-VTRLEFQTAVVSVMVALS 750  red flour beetle
XP_001944956  691 LDWRVLNKILKDVPQILKNKALVLsgnwEFDpAYELASTLCQLVNDKTVA--STLKNTPPK-WLKTDFQIAVYPALAAFV 767  pea aphid
EFX68537      697 RDWRVLKLVLERIPRVLNNKALVLsr-hNTD-IDYVGRALCSLISDTTLNnpETLRNAPPK-FSRAEFQLYVFRVLTSLA 773  common water ...
EDO48432      645 WDWTVLEQVLTSLPDVLQNKTLVLaa--dPN-LTAMSSVLCKMVCDPACV--LDLQRMPQG-VGRTGLHALIFPVLTVLA 718  starlet sea a...
XP_008122202  697 TDWKVLKLVLNKLPWSLQYKVLFLts-pCN--IDQLSSALCNMLTDKKMT--ERLKGIPEG-LSRNDLHLAVVPVLTALI 770  green anole
XP_022530233  700 TDWKVLKLVLDKMPWTLQYKVLLLts-pCS--VDQLCSTLCSMVTDRLIS--ERLKRTPDG-FSRTDVQLAVVPVLTALT 773  Mexican tetra
EKC33134      792 SYHKYLDRNRAMEMIKCL--EFGLVSK-CAKTCTNSLRICTLEMQ-DVMMRLLPSVLLQLSRISATVHMAIPVLAFLSSI 867  Pacific oyster
3_pfamImport  201 TFYNKIDTSRQRQILRCL--YSGLTTK-CAKHCLSAITLCMIEMRaDATIRVLPSILLHLSHMSATVHLATAVLELLSTL 277 
AAI67586      780 SYHQHLELSKQREMVRCL--ETGLIFR-CGKQCVVALSMCVIEMP-SILIKSLPVLIVKLTHISATVTMAIPMLEFLSTL 855  tropical claw...
Q61037        775 SYHNYLDKTRQREMVYCL--EQGLIYR-CASQCVVALAICSVEMP-DIIIKALPVLVVKLTHISATASMAIPLLEFLSTL 850  house mouse
XP_008197389  751 SYGNSLDQYHQQLLINTLtrSTGTDPR-CSRQSINSLTICMVDMR-ETMMKLLPDVLLRLSKISATKYIAMPVLEFLSTL 828  red flour beetle
XP_001944956  768 SYHNSLEPPLQQKLVKCL--QSGLVNR-CITPVVMALTTCILEMR-DVMVKLLPEVLLNMSKLSATTQIAVPILEFLSML 843  pea aphid
EFX68537      774 SYHAYLKPETQQKLVKCL--EVGLKFKdTAKTCVVALTISALEMK-ETMYKLLPGVLLSLSKISATVSIAPNILEFLSTL 850  common water ...
EDO48432      719 TYHTRLDRQHQCELVQSL--ELGFGTK-CASLCVSSLTLCTMEMQ-AVITSLLPAILVRLSQVSATVLMAVPMLEFLSGL 794  starlet sea a...
XP_008122202  771 SYHSYLDKTKQREMVYCL--EHGLIYR-CANQCVVALSICSVEMP-DIIIKALPVLIVKLTHISATANMAIPLLEFLSTL 846  green anole
XP_022530233  774 SYHSYLEQSRQRELVQCL--ETGLIYR-CAKQCVVALTMCTVEMP-DIMIKLLPALIVKLTHISATVTMATPMLEFLSTL 849  Mexican tetra
EKC33134      868 VRLPRMYANFVEEEYRSVFAIALPYTNPFKFSHYTVSLAHHVIAIWFMRCR 918  Pacific oyster
3_pfamImport  278 SQLSHLYSDFVEDQYLTVFAITLQHANPVKFSLYVVSLAHNIVSMWFVKCR 328 
AAI67586      856 VRLPHLYANFAAEQYASVFAISLPYTNPSKFNQYIVFLAHHVIAMWFIRCR 906  tropical clawed frog
Q61037        851 ARLPHLYRNFVPEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCR 901  house mouse
XP_008197389  829 SQLPNVYANFVGDQYMAVFAIALPYTNPFKYDNYIVSLAYHVISVWFLKCR 879  red flour beetle
XP_001944956  844 SRLPKVFSNFVADQYMAVFAITLPYTNPFKYNHYTVSLAHRVIAIWFLKCR 894  pea aphid
EFX68537      851 NRLPEVYSSFVEEQYLSIFAITLPFINPFKFNHYVVSLAHHVVSLWFLSCK 901  common water flea
EDO48432      795 VHLPHLYTSFKETQYKSVFAICLPYTDSARYSQYTVTLAFHVIAAWFVRAR 845  starlet sea anemone
XP_008122202  847 ARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIKCR 897  green anole
XP_022530233  850 VRLPHLYANFVAEQYVSVFAISLPYTNPSKFNQYIVSLAHHVIAMWFIRCR 900  Mexican tetra
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