NCBI Home Page NCBI Site Search page NCBI Guide that lists and describes the NCBI resources
Conserved domains on  [gi|1034598612|ref|XP_016879798|]
View 

folliculin isoform X3 [Homo sapiens]

Protein Classification

folliculin domain-containing protein( domain architecture ID 10966118)

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

Graphical summary

 Zoom to residue level

show extra options »

Show site features     Horizontal zoom: ×

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 ...
270-492 3.71e-116

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: 341.32  E-value: 3.71e-116
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 270 PVFKSLRHMRQVLGAPSFRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGLSPH 349
Cdd:pfam16692   1 PLFTSLRHLRKVLGEDSFRALAWHVVIGNQVIWRGQNPSLVTSAFNVLKDLLPVGCVRVCPYSDQYEETYKCNILGLSPA 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 350 VQIPPHVLSSEFAVIVEVHAAARS-----TLHPVGCEDDQSLSKYEFVVTSGSPVAadRVGPTILNKIEAALTNQNLSVD 424
Cdd:pfam16692  81 VVIPRHVVSSEFFVLVDIHYYDESkepedIDHPNRSVDDDALNTIEFTFSGPCTLP--EKGPSTLNKAEVAIYNESLSPE 158
                         170       180       190       200       210       220
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*...
gi 1034598612 425 VVDQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILGASEEDNVKLLKFWMTGLSKTYKSHLM 492
Cdd:pfam16692 159 VVRHCLICLKEEWMNKVKVLYKFTKIDNREKEDTKRLLQFLGAIEEDDVRLLMFWMTGLSKQFKSHLM 226
Folliculin super family cl13199
Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this ...
106-191 5.35e-20

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.


The actual alignment was detected with superfamily member pfam11704:

Pssm-ID: 463323  Cd Length: 163  Bit Score: 86.87  E-value: 5.35e-20
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 106 YVSHQHPSHPQLFSIVRQACVRSLSCE----------------------------------------------------- 132
Cdd:pfam11704   1 YVSTQYPSSPERYSLLRQACVRSLSCEtlpgdggpiffgdsirgytlayifrlpdpnargferryslialsddkrlllnn 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 133 ---------------------VFEAEQFGCpQRAQRMNTAFTP----FLHQRNGNAARSLTSLTSDDNLWACLHTSFAWL 187
Cdd:pfam11704  81 wpfitsafrkliseiqqkaekVLEREQKQC-QSRRRMGSGFSLdpgnYLRRSKSKLARSLAELTGDPDIFVELHAWFVWL 159

                  ....
gi 1034598612 188 LKAC 191
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 ...
270-492 3.71e-116

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: 341.32  E-value: 3.71e-116
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 270 PVFKSLRHMRQVLGAPSFRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGLSPH 349
Cdd:pfam16692   1 PLFTSLRHLRKVLGEDSFRALAWHVVIGNQVIWRGQNPSLVTSAFNVLKDLLPVGCVRVCPYSDQYEETYKCNILGLSPA 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 350 VQIPPHVLSSEFAVIVEVHAAARS-----TLHPVGCEDDQSLSKYEFVVTSGSPVAadRVGPTILNKIEAALTNQNLSVD 424
Cdd:pfam16692  81 VVIPRHVVSSEFFVLVDIHYYDESkepedIDHPNRSVDDDALNTIEFTFSGPCTLP--EKGPSTLNKAEVAIYNESLSPE 158
                         170       180       190       200       210       220
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*...
gi 1034598612 425 VVDQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILGASEEDNVKLLKFWMTGLSKTYKSHLM 492
Cdd:pfam16692 159 VVRHCLICLKEEWMNKVKVLYKFTKIDNREKEDTKRLLQFLGAIEEDDVRLLMFWMTGLSKQFKSHLM 226
Folliculin pfam11704
Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this ...
106-191 5.35e-20

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: 86.87  E-value: 5.35e-20
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 106 YVSHQHPSHPQLFSIVRQACVRSLSCE----------------------------------------------------- 132
Cdd:pfam11704   1 YVSTQYPSSPERYSLLRQACVRSLSCEtlpgdggpiffgdsirgytlayifrlpdpnargferryslialsddkrlllnn 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 133 ---------------------VFEAEQFGCpQRAQRMNTAFTP----FLHQRNGNAARSLTSLTSDDNLWACLHTSFAWL 187
Cdd:pfam11704  81 wpfitsafrkliseiqqkaekVLEREQKQC-QSRRRMGSGFSLdpgnYLRRSKSKLARSLAELTGDPDIFVELHAWFVWL 159

                  ....
gi 1034598612 188 LKAC 191
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 ...
270-492 3.71e-116

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: 341.32  E-value: 3.71e-116
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 270 PVFKSLRHMRQVLGAPSFRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGLSPH 349
Cdd:pfam16692   1 PLFTSLRHLRKVLGEDSFRALAWHVVIGNQVIWRGQNPSLVTSAFNVLKDLLPVGCVRVCPYSDQYEETYKCNILGLSPA 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 350 VQIPPHVLSSEFAVIVEVHAAARS-----TLHPVGCEDDQSLSKYEFVVTSGSPVAadRVGPTILNKIEAALTNQNLSVD 424
Cdd:pfam16692  81 VVIPRHVVSSEFFVLVDIHYYDESkepedIDHPNRSVDDDALNTIEFTFSGPCTLP--EKGPSTLNKAEVAIYNESLSPE 158
                         170       180       190       200       210       220
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*...
gi 1034598612 425 VVDQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILGASEEDNVKLLKFWMTGLSKTYKSHLM 492
Cdd:pfam16692 159 VVRHCLICLKEEWMNKVKVLYKFTKIDNREKEDTKRLLQFLGAIEEDDVRLLMFWMTGLSKQFKSHLM 226
Folliculin pfam11704
Vesicle coat protein involved in Golgi to plasma membrane transport; In yeast cells this ...
106-191 5.35e-20

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: 86.87  E-value: 5.35e-20
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 106 YVSHQHPSHPQLFSIVRQACVRSLSCE----------------------------------------------------- 132
Cdd:pfam11704   1 YVSTQYPSSPERYSLLRQACVRSLSCEtlpgdggpiffgdsirgytlayifrlpdpnargferryslialsddkrlllnn 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1034598612 133 ---------------------VFEAEQFGCpQRAQRMNTAFTP----FLHQRNGNAARSLTSLTSDDNLWACLHTSFAWL 187
Cdd:pfam11704  81 wpfitsafrkliseiqqkaekVLEREQKQC-QSRRRMGSGFSLdpgnYLRRSKSKLARSLAELTGDPDIFVELHAWFVWL 159

                  ....
gi 1034598612 188 LKAC 191
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.
Help | Disclaimer | Write to the Help Desk
NCBI | NLM | NIH