6V4U


Conserved Protein Domain Family
C9orf72-like

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pfam15019: C9orf72-like (This model is not part of the current CDD release)
C9orf72-like protein family
The entry includes Guanine nucleotide exchange factor C9orf72 protein, a component of the C9orf72-SMCR8 complex, which has guanine nucleotide exchange factor activity and regulates autophagy. The C9orf72 protein is proposed to be a catalytic component for the exchange of GDP to GTP and promoting autophagosome maturation by converting inactive GDP-bound RAB8A and RAB39B into their active forms. 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.
Statistics
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PSSM-Id: 521606
Aligned: 19 rows
Threshold Bit Score: 204.051
Created: 16-Feb-2025
Updated: 28-Apr-2025
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:
6V4U_A        61 FLANHTLNGEIL-RNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDR-STYGLSII--LPQTELSFYLPLHRVCVDRLT 136 human
XP_001330503  39 SLFRLLLANVHRqKDNAYSSYVTSIIELQSYNWYVVATLFSITQNQRK-TFYALTLI--LDTHHIPNYRNSIKILSQHSL 115
XP_001329756  38 DIFKLSLSNLYRqDPKYFTDAVTIIAEINCLNIATISSVFYLQRKNLA-TYISLTYI--FRLSSIRKCDLQHPSLIKFCK 114
XP_004993366 202 VLPRLTTGGELTrNMEADGSCASRYYRLPAEGFELGTFVFLADVDGAT-CPCALSLVkeLPPTEVSRYLKLFGVCRDRMA 280
XP_038515723  61 FLANHTLNGEIL-RNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDR-STYGLSII--LPQTELSFYLPLHRVCVDRLT 136
EPB90790     190 migrqVLNGEMG---RTLKGVEPKWIVLHRQAIICTAFLFHDPTLE---SLCALVLV--VPVRYLRNFSQYFRVLCDRIP 261
EDO36091      99 YVVSRTLNGELL-RDAPENVVDTKLFVIKEKGIVCHSFIFTGRDSSGS-NISALSLM--LPHIDMAGYLPLVELVEDRVK 174
XP_003389848  89 lissyVIKDEAC-REDKINGIETKFYALEKFDLIASSFIFRAPLRGGKmALFAFYVT--LPYKELAEFMPRYSLCEDKIR 165
XP_001323420  48 YLLKLNTYIPSSeKDMRLKNILFRHVDSHQLNLGSFASIYQITNDDVK-RNYCVAII--YNLKKIDMSFEQEQQIKYFLK 124
XP_002115367  75 HVASLTGRDLFHdGSEGEGIVSYKLLLLPQHDVVVNCYKFYGCLKDGRtTLYAFSIL--MPTRYLNDYMPLYQICETRIV 152 Trichoplax adha...
6V4U_A       137 HIIRKGRIWMHKERQENVqkiilegtermedqgqsiipmL---------------------TGEVIPVME---------- 185 human
XP_001330503 116 YLAAAAKSSFTNNFPLKK---------------------L---------------------ERFIQPIHQ---------- 143
XP_001329756 115 IFSQQIKDAITQNEPLKK---------------------L---------------------EPAILQSKS---------- 142
XP_004993366 281 TLVKKFVAQLKHRKEGTT---------------------Ttqvl--------------lrfTDDIGPFMI---------- 315
XP_038515723 137 HIIRKGRIWMHKERQENV---------------------QkivlegtermedqgqsiipmlTGEVIPVME---------- 185
EPB90790     262 IQLVEPVVQLRKVYKRHA---------------------Vpwsva-----------lnyfkVNHLMPFVQ---------- 299
EDO36091     175 ILIAKLRVLQTKDKNQNI---------------------Lww------------------aLGSVSRVLTwlplegghfi 215
XP_003389848 166 SILKKQIINKMEEKKYER---------------------Pvkgligeq-----veeflcdfSHKLQGLSQ---------- 209
XP_001323420 125 QITHSTRSALKFQQPLQI---------------------S---------------------TPLISRALE---------- 152
XP_002115367 153 EFTAKFRLFQFKNYQTAI---------------------Ek-------------------iFNDLKAFLI---------- 182 Trichoplax adha...
6V4U_A       186 LLSSMKSHSVpEEIDia--dTVlnDd----------------DIgdscheGFLLNAISSHLQTCGCSVVVGSSAEKVNKI 247 human
XP_001330503 144 QCIDYFSSSIeQIPDfe--iFP--G-----------------DL------RFYSLVLSSHLATQVITIIESDDDTETYKL 196
XP_001329756 143 DLNIFFTSGVqLNTFvq--iDY--S-----------------SV------SFYALCLTSHLQTGMTSVIEVDPYEPYLDL 195
XP_004993366 316 AVNHLGQQRAlGQADapqpsPF--AdtaldlsesidgatfhlPR------PFLDICITCHLQTAGRSVIVGEDSEPVRRL 387
XP_038515723 186 LLSSMKSHSVpEEI------DI--Adtvlndd----digdscHE------GFLLNAISSHLQTCGCSVVVGSSAEKVNKI 247
EPB90790     300 SVMDLESVSLpIDCV-----KT--Shtildh-----esrqmlES------PFIAKVITSHLQTFGSTLLVGNTLTSMNMV 361
EDO36091     216 EVLLYACYKFsLVTFfnfflQI--Nntvfga-----dhnvvfDP------VFLRRVITSHLQTFGSTMVIGQSISRVNLM 282
XP_003389848 210 VMLSVRYESIpLDI------TV--Ddtilgfe----nsklkgWI------DFLSEAITCHLQIGGHTVIFGEDKDIIMKM 271
XP_001323420 153 YLNRFTNAHIyKMPDfp--sLP--A-----------------DL------MFHMIALTSHFETQMSTIIESNDYNQAKAM 205
XP_002115367 183 HITAIVRGKLsGTL------EI--Adtwlfsi---fknttkeEI------ALLEKAITSHLQTCRCSIVIGSDMKQINKM 245 Trichoplax adha...
6V4U_A       248 VRTLCLFLTPAERKCSRLCEAEssfK------YESGLFVQGLLKDSTgSFVlp-frQVMYAPYPTTHIDVDVNTVKQMPP 320 human
XP_001330503 197 ASFLANFLLPNQLIHSSLKISD---K------ITPGLFLQCVSKQKT-DIVd----IFLASAHPITYVRMSERKIFTTSA 262
XP_001329756 196 ANFLLFFTFPFQRNYASFEVHD---R------YIPGLSIQIISRQQKpDDE-----FFNSFKRPITYIRLREKKVFSIGN 261
XP_004993366 388 LRTLALFLTQAEQETVRYDSTG---Si-----YEPDLVLQVVN-----APVdkiesQVLDANHPTTIIDPKLRVVRRTHN 454
XP_038515723 248 VRTLCLFLTPAERKCSRLCEAK---Ssf---kYESGLFVQGLLKDSTgSFVlp-frQVMYAPYPTTHIDVDVNTVKQMPP 320
EPB90790     362 INTLALFLSLEERSRSSHARKH---Hh-----YMSDLYLQGLLIQDVeEMEtkveiAVLDSTVPTTLVDMTRLIVRKTPL 433
EDO36091     283 INSLALFLSSNERQKSRYAVDG---Adt--dvYDTDLYLQGVIKDGDgNFTlp-vkGVITSIYPTTLVDVDTCDVKKTYP 356
XP_003389848 272 LNTLALFLSPKERKMSRIVPQS---Kseg-krYIPNLFLQGYVKKPDgSFPfp-ldYLWKSKFPSTVIDMDKNKIYTnes 346
XP_001323420 206 AQFLANFMFPYQLYHSSFEHLR---R------PISGLYLQIIQCQAQ-SPEd----ILLTFSFPCTWIRLSDKTVWQTPT 271
XP_002115367 246 VRTLAMFNSEKELQSSRINLED---DerinqsYLPDLYLQGLLMELEsLPIs----DIVRSHRPTTIISLHNWEVYRTAL 318 Trichoplax adha...
6V4U_A       321 CHEH 324 human
XP_001330503 263 PEKH 266
XP_001329756 262 IHYE 265
XP_004993366 455 RDVY 458
XP_038515723 321 CHEH 324
EPB90790     434 FNSY 437
EDO36091     357 YHEH 360
XP_003389848 347 tvpv 350
XP_001323420 272 MDEQ 275
XP_002115367 319 PDQH 322 Trichoplax adhaerens
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