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Conserved domains on  [gi|24659868|ref|NP_648090|]
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Birt-Hogg-Dube [Drosophila melanogaster]

Protein Classification

Folliculin and Folliculin_C domain-containing protein( domain architecture ID 11189894)

Folliculin and Folliculin_C domain-containing protein

Graphical summary

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List of domain hits

 Name Accession Description Interval E-value
Folliculin pfam11704
Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this ...
 68-222 2.08e-50

Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this family functions in the regulated delivery of Gap1p (a general amino acid permease) to the cell surface, perhaps as a component of a post-Golgi secretory-vesicle coat complex. Birt-Hogg-Dube (BHD)4 syndrome is an autosomal dominant disorder characterized by hamartomas of skin follicles, lung cysts, spontaneous pneumothorax, and renal cell carcinoma. Folliculin is the protein from the BHD4 gene and is found to have no significant homology to any other human proteins. It is expressed in most tissues. These same symptoms also occur in TSC or tuberous sclerosis complex, suggesting that the same pathway is involved, and it is likely that the target is the down-stream Tor2 - an essential gene. Folliculin appears to bind Tor2, and down-regulation of Tor2 activity leads to up-regulation of nitrogen responsive genes including membrane transporters and amino acid permeases.


:

Pssm-ID: 463323  Cd Length: 163  Bit Score: 168.53  E-value: 2.08e-50
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868    68 FVSTKVAVLPEVASLVKQAAVLSLSNGTDASKDGeFVFFGDSSRGHILSHTFRVSDLQARGYSQLFSIIVLMKDKYFLLN 147
Cdd:pfam11704   1 YVSTQYPSSPERYSLLRQACVRSLSCETLPGDGG-PIFFGDSIRGYTLAYIFRLPDPNARGFERRYSLIALSDDKRLLLN 79

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868   148 IKPFLAEHLKKVSSELQAAAKKTKETEEQTYSERQR-----RLSGAQFLMP----TSRALLELTGEEHIFAQLHSHFSWL 218
Cdd:pfam11704  80 NWPFITSAFRKLISEIQQKAEKVLEREQKQCQSRRRmgsgfSLDPGNYLRRskskLARSLAELTGDPDIFVELHAWFVWL 159


                  ....
gi 24659868   219 LLAG 222
Cdd:pfam11704 160 LKAL 163
Folliculin_C super family cl25045
Folliculin C-terminal domain; This is the C-terminal domain of folliculin. It has guanine ...
 270-459 4.26e-11

Folliculin C-terminal domain; This is the C-terminal domain of folliculin. It has guanine nucleotide exchange factor (GEF) activity.


The actual alignment was detected with superfamily member pfam16692:

Pssm-ID: 465236  Cd Length: 226  Bit Score: 62.44  E-value: 4.26e-11
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868   270 EEFFSLRHLKSVVRKEEFATVCYCALTGVKIVVRG-DPRKTFRFMVCLKKLLPepmHNLMR-IDAQHQHSISSEYKIISV 347
Cdd:pfam16692   1 PLFTSLRHLRKVLGEDSFRALAWHVVIGNQVIWRGqNPSLVTSAFNVLKDLLP---VGCVRvCPYSDQYEETYKCNILGL 77

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868   348 SNDIAVP---MAS--SSVYRIDFLDKH-----------------VNGHEVSVKWPGELPRKLPDLMVKLLKAVEEKNFTE 405
Cdd:pfam16692  78 SPAVVIPrhvVSSefFVLVDIHYYDESkepedidhpnrsvdddaLNTIEFTFSGPCTLPEKGPSTLNKAEVAIYNESLSP 157

                         170       180       190       200       210       220
                  ....*....|....*....|....*....|....*....|....*....|....*....|..
gi 24659868   406 LVLNKQTKVLIEEWKNKVTCLnhAKSTSVQG-------KLKKVLG-VQPHDQPIINYWSTHL 459
Cdd:pfam16692 158 EVVRHCLICLKEEWMNKVKVL--YKFTKIDNrekedtkRLLQFLGaIEEDDVRLLMFWMTGL 217
 
Name Accession Description Interval E-value
Folliculin pfam11704
Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this ...
 68-222 2.08e-50

Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this family functions in the regulated delivery of Gap1p (a general amino acid permease) to the cell surface, perhaps as a component of a post-Golgi secretory-vesicle coat complex. Birt-Hogg-Dube (BHD)4 syndrome is an autosomal dominant disorder characterized by hamartomas of skin follicles, lung cysts, spontaneous pneumothorax, and renal cell carcinoma. Folliculin is the protein from the BHD4 gene and is found to have no significant homology to any other human proteins. It is expressed in most tissues. These same symptoms also occur in TSC or tuberous sclerosis complex, suggesting that the same pathway is involved, and it is likely that the target is the down-stream Tor2 - an essential gene. Folliculin appears to bind Tor2, and down-regulation of Tor2 activity leads to up-regulation of nitrogen responsive genes including membrane transporters and amino acid permeases.


Pssm-ID: 463323  Cd Length: 163  Bit Score: 168.53  E-value: 2.08e-50
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868    68 FVSTKVAVLPEVASLVKQAAVLSLSNGTDASKDGeFVFFGDSSRGHILSHTFRVSDLQARGYSQLFSIIVLMKDKYFLLN 147
Cdd:pfam11704   1 YVSTQYPSSPERYSLLRQACVRSLSCETLPGDGG-PIFFGDSIRGYTLAYIFRLPDPNARGFERRYSLIALSDDKRLLLN 79

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868   148 IKPFLAEHLKKVSSELQAAAKKTKETEEQTYSERQR-----RLSGAQFLMP----TSRALLELTGEEHIFAQLHSHFSWL 218
Cdd:pfam11704  80 NWPFITSAFRKLISEIQQKAEKVLEREQKQCQSRRRmgsgfSLDPGNYLRRskskLARSLAELTGDPDIFVELHAWFVWL 159


                  ....
gi 24659868   219 LLAG 222
Cdd:pfam11704 160 LKAL 163
Folliculin_C pfam16692
Folliculin C-terminal domain; This is the C-terminal domain of folliculin. It has guanine ...
 270-459 4.26e-11

Folliculin C-terminal domain; This is the C-terminal domain of folliculin. It has guanine nucleotide exchange factor (GEF) activity.


Pssm-ID: 465236  Cd Length: 226  Bit Score: 62.44  E-value: 4.26e-11
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868   270 EEFFSLRHLKSVVRKEEFATVCYCALTGVKIVVRG-DPRKTFRFMVCLKKLLPepmHNLMR-IDAQHQHSISSEYKIISV 347
Cdd:pfam16692   1 PLFTSLRHLRKVLGEDSFRALAWHVVIGNQVIWRGqNPSLVTSAFNVLKDLLP---VGCVRvCPYSDQYEETYKCNILGL 77

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868   348 SNDIAVP---MAS--SSVYRIDFLDKH-----------------VNGHEVSVKWPGELPRKLPDLMVKLLKAVEEKNFTE 405
Cdd:pfam16692  78 SPAVVIPrhvVSSefFVLVDIHYYDESkepedidhpnrsvdddaLNTIEFTFSGPCTLPEKGPSTLNKAEVAIYNESLSP 157

                         170       180       190       200       210       220
                  ....*....|....*....|....*....|....*....|....*....|....*....|..
gi 24659868   406 LVLNKQTKVLIEEWKNKVTCLnhAKSTSVQG-------KLKKVLG-VQPHDQPIINYWSTHL 459
Cdd:pfam16692 158 EVVRHCLICLKEEWMNKVKVL--YKFTKIDNrekedtkRLLQFLGaIEEDDVRLLMFWMTGL 217
 
Name Accession Description Interval E-value
Folliculin pfam11704
Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this ...
 68-222 2.08e-50

Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this family functions in the regulated delivery of Gap1p (a general amino acid permease) to the cell surface, perhaps as a component of a post-Golgi secretory-vesicle coat complex. Birt-Hogg-Dube (BHD)4 syndrome is an autosomal dominant disorder characterized by hamartomas of skin follicles, lung cysts, spontaneous pneumothorax, and renal cell carcinoma. Folliculin is the protein from the BHD4 gene and is found to have no significant homology to any other human proteins. It is expressed in most tissues. These same symptoms also occur in TSC or tuberous sclerosis complex, suggesting that the same pathway is involved, and it is likely that the target is the down-stream Tor2 - an essential gene. Folliculin appears to bind Tor2, and down-regulation of Tor2 activity leads to up-regulation of nitrogen responsive genes including membrane transporters and amino acid permeases.


Pssm-ID: 463323  Cd Length: 163  Bit Score: 168.53  E-value: 2.08e-50
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868    68 FVSTKVAVLPEVASLVKQAAVLSLSNGTDASKDGeFVFFGDSSRGHILSHTFRVSDLQARGYSQLFSIIVLMKDKYFLLN 147
Cdd:pfam11704   1 YVSTQYPSSPERYSLLRQACVRSLSCETLPGDGG-PIFFGDSIRGYTLAYIFRLPDPNARGFERRYSLIALSDDKRLLLN 79

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868   148 IKPFLAEHLKKVSSELQAAAKKTKETEEQTYSERQR-----RLSGAQFLMP----TSRALLELTGEEHIFAQLHSHFSWL 218
Cdd:pfam11704  80 NWPFITSAFRKLISEIQQKAEKVLEREQKQCQSRRRmgsgfSLDPGNYLRRskskLARSLAELTGDPDIFVELHAWFVWL 159


                  ....
gi 24659868   219 LLAG 222
Cdd:pfam11704 160 LKAL 163
Folliculin_C pfam16692
Folliculin C-terminal domain; This is the C-terminal domain of folliculin. It has guanine ...
 270-459 4.26e-11

Folliculin C-terminal domain; This is the C-terminal domain of folliculin. It has guanine nucleotide exchange factor (GEF) activity.


Pssm-ID: 465236  Cd Length: 226  Bit Score: 62.44  E-value: 4.26e-11
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868   270 EEFFSLRHLKSVVRKEEFATVCYCALTGVKIVVRG-DPRKTFRFMVCLKKLLPepmHNLMR-IDAQHQHSISSEYKIISV 347
Cdd:pfam16692   1 PLFTSLRHLRKVLGEDSFRALAWHVVIGNQVIWRGqNPSLVTSAFNVLKDLLP---VGCVRvCPYSDQYEETYKCNILGL 77

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 24659868   348 SNDIAVP---MAS--SSVYRIDFLDKH-----------------VNGHEVSVKWPGELPRKLPDLMVKLLKAVEEKNFTE 405
Cdd:pfam16692  78 SPAVVIPrhvVSSefFVLVDIHYYDESkepedidhpnrsvdddaLNTIEFTFSGPCTLPEKGPSTLNKAEVAIYNESLSP 157

                         170       180       190       200       210       220
                  ....*....|....*....|....*....|....*....|....*....|....*....|..
gi 24659868   406 LVLNKQTKVLIEEWKNKVTCLnhAKSTSVQG-------KLKKVLG-VQPHDQPIINYWSTHL 459
Cdd:pfam16692 158 EVVRHCLICLKEEWMNKVKVL--YKFTKIDNrekedtkRLLQFLGaIEEDDVRLLMFWMTGL 217
 
Blast search parameters
Data Source: Precalculated data, version = cdd.v.3.21
Preset Options:Database: CDSEARCH/cdd   Low complexity filter: no  Composition Based Adjustment: yes   E-value threshold: 0.01

References:

  • Wang J et al. (2023), "The conserved domain database in 2023", Nucleic Acids Res.51(D)384-8.
  • Lu S et al. (2020), "The conserved domain database in 2020", Nucleic Acids Res.48(D)265-8.
  • Marchler-Bauer A et al. (2017), "CDD/SPARCLE: functional classification of proteins via subfamily domain architectures.", Nucleic Acids Res.45(D)200-3.
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