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Conserved domains on  [gi|2462553683|ref|XP_054171316|]
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folliculin isoform X2 [Homo sapiens]

Protein Classification

folliculin domain-containing protein( domain architecture ID 11189898)

folliculin domain-containing protein such as human folliculin that regulates transferrin receptor 1 transport and iron homeostasis

Graphical summary

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List of domain hits

 Name Accession Description Interval E-value
Folliculin_C pfam16692
Folliculin C-terminal domain; This is the C-terminal domain of folliculin. It has guanine ...
 344-566 1.07e-115

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: 342.86  E-value: 1.07e-115
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 344 PVFKSLRHMRQVLGAPSFRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGLSPH 423
Cdd:pfam16692   1 PLFTSLRHLRKVLGEDSFRALAWHVVIGNQVIWRGQNPSLVTSAFNVLKDLLPVGCVRVCPYSDQYEETYKCNILGLSPA 80

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 424 VQIPPHVLSSEFAVIVEVHAAARS-----TLHPVGCEDDQSLSKYEFVVTSGSPVAadRVGPTILNKIEAALTNQNLSVD 498
Cdd:pfam16692  81 VVIPRHVVSSEFFVLVDIHYYDESkepedIDHPNRSVDDDALNTIEFTFSGPCTLP--EKGPSTLNKAEVAIYNESLSPE 158

                         170       180       190       200       210       220
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*...
gi 2462553683 499 VVDQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILGASEEDNVKLLKFWMTGLSKTYKSHLM 566
Cdd:pfam16692 159 VVRHCLICLKEEWMNKVKVLYKFTKIDNREKEDTKRLLQFLGAIEEDDVRLLMFWMTGLSKQFKSHLM 226
Folliculin pfam11704
Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this ...
 106-265 4.96e-78

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: 243.64  E-value: 4.96e-78
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 106 YVSHQHPSHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGFVFSHTFFIKDSLARGFQRWYSIITIMMDRIYLINS 185
Cdd:pfam11704   1 YVSTQYPSSPERYSLLRQACVRSLSCETLPGDGGPIFFGDSIRGYTLAYIFRLPDPNARGFERRYSLIALSDDKRLLLNN 80

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 186 WPFLLGKVRGIIDELQGKALKVFEAEQFGCpQRAQRMNTAFTP----FLHQRNGNAARSLTSLTSDDNLWACLHTSFAWL 261
Cdd:pfam11704  81 WPFITSAFRKLISEIQQKAEKVLEREQKQC-QSRRRMGSGFSLdpgnYLRRSKSKLARSLAELTGDPDIFVELHAWFVWL 159


                  ....
gi 2462553683 262 LKAC 265
Cdd:pfam11704 160 LKAL 163
 
Name Accession Description Interval E-value
Folliculin_C pfam16692
Folliculin C-terminal domain; This is the C-terminal domain of folliculin. It has guanine ...
 344-566 1.07e-115

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: 342.86  E-value: 1.07e-115
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 344 PVFKSLRHMRQVLGAPSFRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGLSPH 423
Cdd:pfam16692   1 PLFTSLRHLRKVLGEDSFRALAWHVVIGNQVIWRGQNPSLVTSAFNVLKDLLPVGCVRVCPYSDQYEETYKCNILGLSPA 80

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 424 VQIPPHVLSSEFAVIVEVHAAARS-----TLHPVGCEDDQSLSKYEFVVTSGSPVAadRVGPTILNKIEAALTNQNLSVD 498
Cdd:pfam16692  81 VVIPRHVVSSEFFVLVDIHYYDESkepedIDHPNRSVDDDALNTIEFTFSGPCTLP--EKGPSTLNKAEVAIYNESLSPE 158

                         170       180       190       200       210       220
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*...
gi 2462553683 499 VVDQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILGASEEDNVKLLKFWMTGLSKTYKSHLM 566
Cdd:pfam16692 159 VVRHCLICLKEEWMNKVKVLYKFTKIDNREKEDTKRLLQFLGAIEEDDVRLLMFWMTGLSKQFKSHLM 226
Folliculin pfam11704
Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this ...
 106-265 4.96e-78

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: 243.64  E-value: 4.96e-78
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 106 YVSHQHPSHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGFVFSHTFFIKDSLARGFQRWYSIITIMMDRIYLINS 185
Cdd:pfam11704   1 YVSTQYPSSPERYSLLRQACVRSLSCETLPGDGGPIFFGDSIRGYTLAYIFRLPDPNARGFERRYSLIALSDDKRLLLNN 80

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 186 WPFLLGKVRGIIDELQGKALKVFEAEQFGCpQRAQRMNTAFTP----FLHQRNGNAARSLTSLTSDDNLWACLHTSFAWL 261
Cdd:pfam11704  81 WPFITSAFRKLISEIQQKAEKVLEREQKQC-QSRRRMGSGFSLdpgnYLRRSKSKLARSLAELTGDPDIFVELHAWFVWL 159


                  ....
gi 2462553683 262 LKAC 265
Cdd:pfam11704 160 LKAL 163
 
Name Accession Description Interval E-value
Folliculin_C pfam16692
Folliculin C-terminal domain; This is the C-terminal domain of folliculin. It has guanine ...
 344-566 1.07e-115

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: 342.86  E-value: 1.07e-115
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 344 PVFKSLRHMRQVLGAPSFRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGLSPH 423
Cdd:pfam16692   1 PLFTSLRHLRKVLGEDSFRALAWHVVIGNQVIWRGQNPSLVTSAFNVLKDLLPVGCVRVCPYSDQYEETYKCNILGLSPA 80

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 424 VQIPPHVLSSEFAVIVEVHAAARS-----TLHPVGCEDDQSLSKYEFVVTSGSPVAadRVGPTILNKIEAALTNQNLSVD 498
Cdd:pfam16692  81 VVIPRHVVSSEFFVLVDIHYYDESkepedIDHPNRSVDDDALNTIEFTFSGPCTLP--EKGPSTLNKAEVAIYNESLSPE 158

                         170       180       190       200       210       220
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*...
gi 2462553683 499 VVDQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILGASEEDNVKLLKFWMTGLSKTYKSHLM 566
Cdd:pfam16692 159 VVRHCLICLKEEWMNKVKVLYKFTKIDNREKEDTKRLLQFLGAIEEDDVRLLMFWMTGLSKQFKSHLM 226
Folliculin pfam11704
Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this ...
 106-265 4.96e-78

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: 243.64  E-value: 4.96e-78
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 106 YVSHQHPSHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGFVFSHTFFIKDSLARGFQRWYSIITIMMDRIYLINS 185
Cdd:pfam11704   1 YVSTQYPSSPERYSLLRQACVRSLSCETLPGDGGPIFFGDSIRGYTLAYIFRLPDPNARGFERRYSLIALSDDKRLLLNN 80

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2462553683 186 WPFLLGKVRGIIDELQGKALKVFEAEQFGCpQRAQRMNTAFTP----FLHQRNGNAARSLTSLTSDDNLWACLHTSFAWL 261
Cdd:pfam11704  81 WPFITSAFRKLISEIQQKAEKVLEREQKQC-QSRRRMGSGFSLdpgnYLRRSKSKLARSLAELTGDPDIFVELHAWFVWL 159


                  ....
gi 2462553683 262 LKAC 265
Cdd:pfam11704 160 LKAL 163
 
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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