Conserved Protein Domain Family
CLN3

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pfam02487: CLN3 
CLN3 protein
This is a family of proteins from the CLN3 gene. A mis-sense mutation of glutamic acid (E) to lysine (K) at position 295 in the human protein has been implicated in Juvenile neuronal ceroid lipofuscinosis (Batten disease). Batten disease is characterized by the accumulation of autofluorescent material in the lysosomes of most cells. Members of this family are transmembrane proteins functional in pre-vacuolar compartments. The protein in Sch.pombe is found to be localized to the vacuolar membrane, and a lack of functional protein clearly affects the size and pH of the vacuole. Thus the protein is necessary for vacuolar homeostasis. It is important for localization of late endosomal/lysosomal compartments, and it interacts with motor components driving both plus and minus end microtubular trafficking: tubulin, dynactin, dynein and kinesin-2.
Statistics
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PSSM-Id: 460570
Aligned: 88 rows
Threshold Bit Score: 369.143
Created: 21-Mar-2022
Updated: 17-Oct-2022
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:
EMD36899      17 LSFFLFGLINNVLYVIILSAALDLVPPST------------------------------------------PKGIIAFCN 54 
XP_015781750  61 IGFWILGLCNNYGYVIMLSAAFDILSRNFnenedkktdq-----------------------ddepfcnpmSTGAILIAD 117
EFX74677      32 IAYWLLGLCNNYAYVIMLSAAHDILSEDFqgnstvptpsp--------------------vtnitrdcnpvSTGAILLAD 91 
XP_002024086  39 TSYWILGLCNNYGYVVMLSAAHDIIKQFNptdddetsa-------------------------tgrnchlvSTGAILLAD 93 
XP_008200233  25 VSYWILGLCNNYGYVVMLTAASDIIGESEgakste------------------------------rnctymSTGAILLAD 74 
XP_001843245  29 VAYWILGLCNNYGYVVMLTAAHDILKELGggdhgddgksmmmldpfaenstllrsgdpaafayekrpcnklSTGAILLAD 108
XP_008183679  14 ASFWILGLCNNFGYVVMLSSAHDILKSNSaalggnetvsiss-----------------tqdvfkrecnylSTGVILLAD 76 
EFN70074      30 LAFWILGLCNNYGYVVMLSAAHDILDIKFsdkdnstlntng------------------tnmtgirmcntvSTGAILLAD 91 
XP_011053300  30 IAFWILGLCNNYGYVVMLSAAHDILQSKFgeqkdipstnn---------------------tnttrtcntvSTGAILLAD 88 
XP_318386     35 VAYWILGLCNNYGYVVMLTAAHDILKELEggdghaksaspldgydvakt---taraddvtfgyearpcnklSTGAILLAD 111 Anopheles gambi...
EMD36899      55 IFPALLAKLGWPYVlkgRIRYAKRLMGCTVISISGMIVVAFFDGLTMRLLGICCASFSSGLGELTFLQLSTRYhppqvAG 134
XP_015781750 118 IIPSLCIKLLSPVL---PLGANLRVILVVIFSVLSYLMTALSFARWVSFLGVIFASASSGLGEATFLSYSSRFs----DS 190
EFX74677      92 VLPSLAMKLTMPFL---LTHIRLRVLLVILLSSASFLMVSFSTAQWQAFLGVVFAAISGGLGEVTFLQYSSHY-----DK 163
XP_002024086  94 VLPSLFVKMLMPFF---PFWVNSRIAIAVACSAAGFLLVGFAHAEWMALLGVIITSASSGIGETTFLAYSSRY-----NK 165
XP_008200233  75 IIPSLLVKLLAPFL---PFFVNVRVAVCILCSSAGFLLVAFSQNITMSLLGVVATSFCSGLGEVTYLQYSSFY-----DK 146
XP_001843245 109 ILPALSIKLVASFL---PLWKHVRVAGCVSLAAAGFLLVAFATSDWVLFLGVICTSFSSGLGEATFLAYASYF-----NK 180
XP_008183679  77 IMPGLIIKIFSPFF---GLYINRRLSLCIALTTASFITVAKADTELVAAFGVALTSMASGLGETTLLSYMVNY-----ER 148
EFN70074      92 ILPSLAIKMIAPFL---PFLVHARLATCVLFSAAGFLMVSLSTVEWLALLGVVITSLSSGLGEATLLGYSNQF-----SK 163
XP_011053300  89 ILPALAIKITAPFL---PFLVHARLATCVLFSAAGFLMVSLSMIEWVAIMGVVLTSLSSGLGEVTLLSYSNQF-----SK 160
XP_318386    112 ILPALAVKSIASFL---PLAKHVRIFLCVAAAAAGFLLTAFATVEWVLFVGVIATSFSSGLGEATFLAYATYF-----NK 183 Anopheles gambi...
EMD36899     135 HSVGYFASGTGAAGLVGAFLWWELR---NLGVRVGVGLSSVLPLVIPLAYYFLLPLPPAFVGLGIPe-eA---------- 200
XP_015781750 191 DTISFWSSGTGGAGLIGSISYAGLTq-lGLSPRVTLLVMLIVPVIMAITFWIVLAPPKIDVATITPlmqPnepstgdeii 269
EFX74677     164 NVVSTWSSGTGGSGLFGALSFAALTt-aGLSARKTVLLMLVIPALMAITFFFILDHEKRRVKTNDSdadTeplmeenqp- 241
XP_002024086 166 NVISTWSSGTGGAGVIGSLSYATLRd-lDVSPRNTMLIMLVFPAIEAFAFWLLLRRPQVDILPVTTvesTevlisd---- 240
XP_008200233 147 NVVSTWSSGTGGAGVIGAVSYSLLQq---LGLKTTLLVMLLVPGMMAVTFYIILPSPEVMDENDIqadvnn--------- 214
XP_001843245 181 NVISTWSSGTGGAGVIGSLSYTGLTa-aGLSPKATMLVMLVVPALEACSFWVLLRHKDTSKDALVe---Tadsakqaidy 256
XP_008183679 149 TVITSWASGTGAAGILGALTYAGLTgvfHLSPSTTMYLMLSVPFLMGVSFWVLLEHPKKDEIPTMPsisPdpst------ 222
EFN70074     164 QVISTWSSGTGGAGVIGALSYASLAt--VLSVENTLLVMLIVPLLQGITFWCVLKHPVHTKISIng--vEnqeqii---- 235
XP_011053300 161 QVISTWSSGTGGAGVIGAVSYAGLTl--VLSIENTLLVMLIVPFLQAVTFWVILKHPTHIRIPITKngiDsqeqii---- 234
XP_318386    184 NVISTWSSGTGGAGIAGSLSYTGLTg-lGLTPKTTILIMLVVPGLEAAAFWLLLRHKDTDKPADISeqeAgsekpeeidy 262 Anopheles gambi...
EMD36899     201 ------------RsssappspytpymplpeddaetdvsvnaqigmgddmqsgkghvaLtAQDKWKLAKPLIMKYMMPLFC 268
XP_015781750 270 syqtvrepeiglT----------------------------------------------LREKSILMKGLLG-FMIPLAV 302
EFX74677     242 ---sfkghiapiS----------------------------------------------MRSKCRMLPRM-ArFIVPLGS 271
XP_002024086 241 -----------------------------------------------------dkplvgFKEKLSYIKHL-FkYMLPLCL 266
XP_008200233 215 ------eeiknpK--------------------------------------------EaFMKKLKHVPSL-FKYMIPFGL 243
XP_001843245 257 s-tlpederpleN----------------------------------------------WRQKLGYIPALFI-FMIPLIL 288
XP_008183679 223 -------------------------------------------------------nnqsFSNKFSYIPKL-LkFMIPLGL 246
EFN70074     236 -----------------------------------------------------kvpeksIRDKFKLIPGL-LkYMIPLGL 261
XP_011053300 235 -----------------------------------------------------kvpektFRDKINLVPGL-LkYMIPLGL 260
XP_318386    263 n-tlpederpleN----------------------------------------------WNQRLRYIPSLFI-FMIPLIL 294 Anopheles gambi...
EMD36899     269 VYLFEYTINQGIAPTLIYP-VpssseawlmpkIVHSIRDYYPLWQLVYQTTVFFSRSSIS-IGIpplpsRLLFLPALLQG 346
XP_015781750 303 VYFAEYLINQALFELVYFPgI------------WLSHNEQYRWYQVDYQLGVLISRSSVKwIKI-----KALWILPLLQI 365
EFX74677     272 VYLFEYFINQGVFELIYFEnI------------WLDHHSQYRWLQVDYQLGVFLSRSSVNlFRI-----NAVWFLAVLQF 334
XP_002024086 267 VYFFEYFINQGLFELVYFEnI------------FLDKDSQYRWLNVDYQIGVFISRSSVNiFQL-----NKIWLMSVFQF 329
XP_008200233 244 VYFLEYYINQGTFELINFE-N-----------TFLAPSDQYRWLQVAYQIGVFVSRSSVNfFHI-----RHIWVMSVLQA 306
XP_001843245 289 VYLFEYFINQGMFELVYFPgI------------SLSQSEQYRWYQVLYQVGVFISRSSVNiVHF-----RHVWVMALLQF 351
XP_008183679 247 VYFFEYLINQGLFELVYFEkI------------WLTHSEQYRWYQVIYQLGVFTSRTSVSlFPI-----EKIWILTILQG 309
EFN70074     262 VYLFEYFINQGLYELIEFDnI------------WLTQHEQYRWLQVDYQIGVFISRSSVNvVTI-----NKIWIMSVFQL 324
XP_011053300 261 VYLFEYFINQGLYELIEFKdI------------WLTHSEQYRWLQVDYQIGVFISRSSVNlVTI-----NKIWIMSVLQF 323
XP_318386    295 VYLLEYYINQGLFELVYFPgI------------WLSQSAQYRWYQVIYQIGVFISRSSVNlIQF-----RQVWIMAVFQF 357 Anopheles gambi...
EMD36899     347 FILLFLGFESavgvsGDnSpVTSFWMVFWLVALEGTCGGLAYINAYYRVGQDHRVssgvdgdesdaerarQEREFRIGSI 426
XP_015781750 366 INLLLVFVEA-----LK-NyLPNIWIMLLIVFYEGLLGGAAYVNTFDQIYRKYED---------------RVRGFCLGAA 424
EFX74677     335 VNVILLTTEA-----VF-LyIPSIWIVFTIVFWEGLLAGAAYVNTFYRVAFETIP---------------QEKAFAMGIT 393
XP_002024086 330 VNVIYFLTEV-----IW-WyTPSIWIVFVIVLWEGLLGGGAYVNTFYRMSKEISP---------------ERQQFAMAMV 388
XP_008200233 307 VNVVIFTTEV-----IY-YyMPSFWIILALTLWEGLLGGAAYVNTFYRISTEVRE---------------ENKQFSMAIT 365
XP_001843245 352 INMVFFIFEA-----IY-MfTPSIWIIFVLILWEGLLGGGGYVNTFYRMQIEVPE---------------ARREYAMMIT 410
XP_008183679 310 LNVVYFLIET-----LY-SfTPNIYIIFALIGYEGLLGGGSYANTYHNIMKKVPK---------------ERQEYAMAMT 368
EFN70074     325 INVIILLFET-----LF-YyIPNIWIVFALVLWEGLLGGGAYVNTFFRISTEIPK---------------TDRETSLEIA 383
XP_011053300 324 FNVILFFFET-----LY-YyIPNIWIIFALVLWEGLLGGGAYVNTFYRMSTEIPK---------------VDREASLGIA 382
XP_318386    358 LNVVYFTFEA-----VY-YfTPSIWIIFVLILWEGLLGGGGYVNTFYRIQTDVPA---------------ARREYAMMVT 416 Anopheles gambi...
EMD36899     427 GMADSTGILIAALVAVPTEVGLCRA 451
XP_015781750 425 SIADALGITLSGFSSVLLHNVLCDI 449
EFX74677     394 SLAGSVGVSTAGALAVPFHQYLCSL 418
XP_002024086 389 VQSDSYGIALAGFLAIPVHNAICGL 413
XP_008200233 366 SFADSIGITLAGIVSIYAHNAICSL 390
XP_001843245 411 SISDSVGIALAGIASIPSHNAICDL 435
XP_008183679 369 SLADAIGISLSGLLAIPLHNQICKI 393
EFN70074     384 TMSDAIGIALAGWLSMPVHNAICKL 408
XP_011053300 383 TMADSIGIALAGWLSMPVHNAICKL 407
XP_318386    417 SISDSVGIALAGIAAIPSHNAICDL 441 Anopheles gambiae str. PEST
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