6LT0


Conserved Protein Domain Family
C9orf72-like

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pfam15019: C9orf72-like 
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C9orf72-like protein family
The precise function of this family is unknown but members have been found to be localized in the cytoplasm of brain tissue. Defects in the gene, C9orf72, are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) which is an autosomal dominant neurodegenerative disorder. The disorder is caused by a large expansion of a GGGGCC hexa-nucleotide within the first C9orf72 intron located between the first and the second non-coding exons. The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci. This domain family is found in eukaryotes, and is typically between 230 and 250 amino acids in length. There is a single completely conserved residue F that may be functionally important.
Statistics
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PSSM-Id: 464450
Aligned: 19 rows
Threshold Bit Score: 202.12
Created: 26-Mar-2022
Updated: 17-Oct-2022
Structure
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Program:
Drawing:
Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
6LT0_C        61 FLANHTLNGEIL-RNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDR---STYGLSII--LPQTELSFYLPLHRVCVDR 134
EAY20222      48 SLSRMTLSTLPRqKESAFNKFLTTVLDIASSDWFVVNTIFKVPKSKPQqldVYYSVAII--FKSSQFKKVQHVIEATKYY 125
XP_001582692  43 ELLKLTLSNVHRqEDNAFSQFLTSTTDIPSLNLFIVSSFFIIPQKKEK---IYYNVSLI--LNRNQID-TTKFISNIEDT 116
EDV22212      75 HVASLTGRDLFHdGSEGEGIVSYKLLLLPQHDVVVNCYKFYGCLKDGRt--TLYAFSIL--MPTRYLNDYMPLYQICETR 150
EGD73803     202 VLPRLTTGGELTrNMEADGSCASRYYRLPAEGFELGTFVFLADVDGAT---CPCALSLVkeLPPTEVSRYLKLFGVCRDR 278
XP_005626755  61 FLANHTLNGEIL-RNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDR---STYGLSII--LPQTELSFYLPLHRVCVDR 134
EPB90790     190 migrqVLNGEMG---RTLKGVEPKWIVLHRQAIICTAFLFHDPTLE-----SLCALVLV--VPVRYLRNFSQYFRVLCDR 259
EDO36091      99 YVVSRTLNGELL-RDAPENVVDTKLFVIKEKGIVCHSFIFTGRDSSGS---NISALSLM--LPHIDMAGYLPLVELVEDR 172
XP_003389848  89 lissyVIKDEAC-REDKINGIETKFYALEKFDLIASSFIFRAPLRGGKm--ALFAFYVT--LPYKELAEFMPRYSLCEDK 163
XP_001323420  48 YLLKLNTYIPSSeKDMRLKNILFRHVDSHQLNLGSFASIYQITNDDVK---RNYCVAII--YNLKKIDMSFEQEQQIKYF 122
6LT0_C       135 LTHIIRKGRIWMHKERQENVqkiilegtermedqgqsiipmL---------------------TGEVIPVME-------- 185
EAY20222     126 AQHIVHASQLLLSRSEPFEK---------------------L---------------------TDLVQCAVI-------- 155
XP_001582692 117 CKEIAIFAKTTLNSNLPINK---------------------L---------------------NILIQHANE-------- 146
EDV22212     151 IVEFTAKFRLFQFKNYQTAI---------------------Ek-------------------iFNDLKAFLI-------- 182
EGD73803     279 MATLVKKFVAQLKHRKEGTT---------------------Ttqvl--------------lrfTDDIGPFMI-------- 315
XP_005626755 135 LTHIIRKGRIWMHKERQENV---------------------QkivlegtermedqgqsiipmlTGEVIPVME-------- 185
EPB90790     260 IPIQLVEPVVQLRKVYKRHA---------------------Vpwsva-----------lnyfkVNHLMPFVQ-------- 299
EDO36091     173 VKILIAKLRVLQTKDKNQNI---------------------Lww------------------aLGSVSRVLTwlpleggh 213
XP_003389848 164 IRSILKKQIINKMEEKKYER---------------------Pvkgligeq-----veeflcdfSHKLQGLSQ-------- 209
XP_001323420 123 LKQITHSTRSALKFQQPLQI---------------------S---------------------TPLISRALE-------- 152
6LT0_C       186 --LLSSMKSHSVpEEIDia--dTVlnDd----------------DIgdscheGFLLNAISSHLQTCGCSVVVGSSAEKVN 245
EAY20222     156 --DISKLFHVGV-KPLDfq--iDP--A-----------------EQ------SLYAQILTAHLRGQMNTIFEVNSFSECE 205
XP_001582692 147 --VFEVLSKAGIkTLPDfs--iHP--T-----------------ET------PFLSLILSAHFHSQMNTIIESNNPDEAY 197
EDV22212     183 --HITAIVRGKLsGTL------EI--Adtwlfsi---fknttkeEI------ALLEKAITSHLQTCRCSIVIGSDMKQIN 243
EGD73803     316 --AVNHLGQQRAlGQADapqpsPF--AdtaldlsesidgatfhlPR------PFLDICITCHLQTAGRSVIVGEDSEPVR 385
XP_005626755 186 --LLSSMKSHSVpEEI------DI--Adtvlndd----digdscHE------GFLLNAISSHLQTCGCSVVVGSSAEKVN 245
EPB90790     300 --SVMDLESVSLpIDCV-----KT--Shtildh-----esrqmlES------PFIAKVITSHLQTFGSTLLVGNTLTSMN 359
EDO36091     214 fiEVLLYACYKFsLVTFfnfflQI--Nntvfga-----dhnvvfDP------VFLRRVITSHLQTFGSTMVIGQSISRVN 280
XP_003389848 210 --VMLSVRYESIpLDI------TV--Ddtilgfe----nsklkgWI------DFLSEAITCHLQIGGHTVIFGEDKDIIM 269
XP_001323420 153 --YLNRFTNAHIyKMPDfp--sLP--A-----------------DL------MFHMIALTSHFETQMSTIIESNDYNQAK 203
6LT0_C       246 KIVRTLCLFLTPAERKCSRLCEAEssfK------YESGLFVQGLLKDSTgSFVlp-frQVMYAPYPTTHIDVDVNTVKQM 318
EAY20222     206 RFFNFLTHFTLPEYLQYSSAELRS---R------PNMFLHLQVIQKQNYpAEE-----ILLQSTTARALVRLPEKIVLVT 271
XP_001582692 198 KIAVFLAHFTLSQILETAPLEYLP---A------PIQGLSIQTISRQVA-TPEe----ILLTFKTPTTLIRLPEMQVIFS 263
EDV22212     244 KMVRTLAMFNSEKELQSSRINLED---DerinqsYLPDLYLQGLLMELEsLPIs----DIVRSHRPTTIISLHNWEVYRT 316
EGD73803     386 RLLRTLALFLTQAEQETVRYDSTG---Si-----YEPDLVLQVVN-----APVdkiesQVLDANHPTTIIDPKLRVVRRT 452
XP_005626755 246 KIVRTLCLFLTPAERKCSRLCEAK---Ssf---kYESGLFVQGLLKDSTgSFVlp-frQVMYAPYPTTHIDVDVNTVKQM 318
EPB90790     360 MVINTLALFLSLEERSRSSHARKH---Hh-----YMSDLYLQGLLIQDVeEMEtkveiAVLDSTVPTTLVDMTRLIVRKT 431
EDO36091     281 LMINSLALFLSSNERQKSRYAVDG---Adt--dvYDTDLYLQGVIKDGDgNFTlp-vkGVITSIYPTTLVDVDTCDVKKT 354
XP_003389848 270 KMLNTLALFLSPKERKMSRIVPQS---Kseg-krYIPNLFLQGYVKKPDgSFPfp-ldYLWKSKFPSTVIDMDKNKIYTn 344
XP_001323420 204 AMAQFLANFMFPYQLYHSSFEHLR---R------PISGLYLQIIQCQAQ-SPEd----ILLTFSFPCTWIRLSDKTVWQT 269
6LT0_C       319 PPCHEH 324
EAY20222     272 PAQSTQ 277
XP_001582692 264 PYQDLQ 269
EDV22212     317 ALPDQH 322
EGD73803     453 HNRDVY 458
XP_005626755 319 PPCHEH 324
EPB90790     432 PLFNSY 437
EDO36091     355 YPYHEH 360
XP_003389848 345 estvpv 350
XP_001323420 270 PTMDEQ 275
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