Conserved Protein Domain Family
EBP
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pfam05241: EBP (this model, PSSM-Id:310099 is obsolete and has been replaced by 461600)
Emopamil binding protein
Emopamil binding protein (EBP) is as a gene that encodes a non-glycosylated type I integral membrane protein of endoplasmic reticulum and shows high level expression in epithelial tissues. The EBP protein has emopamil binding domains, including the sterol acceptor site and the catalytic centre, which show Delta8-Delta7 sterol isomerase activity. Human sterol isomerase, a homolog of mouse EBP, is suggested not only to play a role in cholesterol biosynthesis, but also to affect lipoprotein internalisation. In humans, mutations of EBP are known to cause the genetic disorder of X-linked dominant chondrodysplasia punctata (CDPX2). This syndrome of humans is lethal in most males, and affected females display asymmetric hyperkeratotic skin and skeletal abnormalities.
Links
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Statistics
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PSSM-Id: 310099
Aligned: 173 rows
Threshold Bit Score: 124.93
Created: 25-Jul-2016
Updated: 4-Aug-2016
Structure
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Aligned Rows:
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PubMed ReferencesClick to see Conserved Features Help
Sequence Alignment
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Format: Row Display: Color Bits: Type Selection: 
Q2GZ37        41 FAAGVGFVFSATVILARAVQASiSk--GKLYTAMWFMLCG-CIHLFFEGYFAY--Hnaem----------pariDV---- 101 Chaetomium glob...
Q55E32        10 AVLTALCVVISLFVk------------REKLVVFWLLWSG-LIHIILEGSYGF--Fahevtkastvsftekmlelvplen 74  Dictyostelium d...
XP_004347519  11 SLVSTVAILVVAWLLARRFASHmPr--VEFYVFLWLAYDA-LIHTILEGSFVF--Mslrst--------vkehdNA---- 73  Capsaspora owcz...
XP_002111830  15 SLALTFFQLLSAVVLAWFANRSvKl-sADKWIIIWLFYDA-ITHFTLEASYLSmsFhgtv----------akseGY---- 78  Trichoplax adha...
XP_004348102  49 avivpiVVFLLTLVFSSSKGRSiSf--GDRLVGWWLLFNGiLIHLFLDGMVGF--Lk----------------------- 101 Capsaspora owcz...
XP_002185879  45 FLSACATVYVSYDARGEH--PPlRv--YDRWVAEWYWWNAwLYHATMDGAsg--------------------sfRL---- 96  Phaeodactylum t...
NP_001005397  21 SLLACVAQFAVGFAFAQKWGH--KcsaVDRWVLVWLFYDA-IVHFTLEGPFVY--M------------------SLvgnv 77  zebrafish
XP_006000623  19 SLLASGLQLLAGYLLAQGLGR--KcsaTDRWVLVWLFYDA-IVHLTLEGPFVY--M------------------SVrgtv 75  coelacanth
XP_002593090  15 LLFVSFLQFVAGLFLAQIFGK--GvsrVDKWVLVWLFYDA-IVHFTFEGPFVY--F------------------SIvgtv 71  Florida lancelet
XP_011435279  10 SLAVTAVYAVVAFIFAFTTGR--SqtrINKLILAWLLFDA-LIHFTLEGPFVY--W------------------SLvsti 66  Pacific oyster

Q2GZ37       102 ------FGQLWKEYSKSDHRYLTRDAFTVCMETVTAVAWGPLSFLIGWLTIKdHPLRYPLQLIVSLGQFYGDVLYMGIFF 175 Chaetomium glob...
Q55E32        75 awnphwYAQLYSQYAKYDLRYAIQDPMVVFFCFLE-LVQGAACFLLVICVIKqARIRHALQIFLCSIQGLGTVFYFITPY 153 Dictyostelium d...
XP_004347519  74 ------FASLWKEYSKADARWLVSDPTVVSLEILTVFFDTFLCVVIMWAMVYnKPYRHYLQVVLCVCELYGGWMTFCPEW 147 Capsaspora owcz...
XP_002111830  79 ------MAELWKEYGKADSRWIHFDTGLISLEILTVMFCGPVCIWLIYAIVNnKHYRHFLQITLCVCELYGGWMTFAPEW 152 Trichoplax adha...
XP_004348102 102 -----rMPSLYEEYGRLDRRYLERDPFVMVISLCELVVYTPLCLWAYRALHRnDALTHPLIILISAIQWTGTWVFAGAEI 176 Capsaspora owcz...
XP_002185879  97 ------VPVVVQQYDLLDRRFTEGHVVPWVIGAVELFVMYPLCLVTLWTVLKrHPLRFPMEIVTSTFHIMGMIVFVVSEV 170 Phaeodactylum t...
NP_001005397  78 assdnlLAELWKEYGKADERWLYSDPTIVSLELLTVVLDGSLALLLVYAIIKdkHYRHFVQITLCVCELYGGWMTFCPDW 157 zebrafish
XP_006000623  76 arsnniVASLWKEYGKADARWLYSDPTIVSLEILTVVLAGPLALLLIHTIITekYYRHFIQITLCVCELYGGWMTFCPVW 155 coelacanth
XP_002593090  72 aksdslLTEVWKEYGKADSRWLHSDPTIVSLEILTVVLDGLLCLVAVYAICKdkHYRHIVQITLCVCELYGGWMTFCPEW 151 Florida lancelet
XP_011435279  67 qksshfTAQVWKEYALADKRWGVSDPTIVSLEILTVFVTGPLAVWLIFAILKdkSYRHFIQIFLCVCELYGGWMTFCPEW 146 Pacific oyster

Q2GZ37       176 F--------DeavH------------------GAVFCRP-ERFYFWVYYVMMNGFWFVIPGWLIFEAVVECTKA 222 Chaetomium globosum C...
Q55E32       154 I--------Ygl--------------------weQQISS-DPFELWVYVVGLNGLWLLVPIILTIQSFIAINKQ 198 Dictyostelium discoideum
XP_004347519 148 L--------V---G------------------SPALNTS-NPLHLWVYLFFFNMVWVVVPLALMWQSWNFLNNA 191 Capsaspora owczarzaki...
XP_002111830 153 I--------T---G------------------SPSLDTS-NALYLWIYLVFFNGLWVVIPLAMLWQSWEALRpl 196 Trichoplax adhaerens
XP_004348102 177 FadfpnipaD---L------------------NLEFKSH-HIIHFWVLFVAANALWTFLPMYLIYRSSAAIAKr 228 Capsaspora owczarzaki...
XP_002185879 171 Y--------E---GqtkipaldpvgipgdrwaNLKFTDPyHLVYYWFGFWFCNLIWGFVPYYRITRAVDECRlv 233 Phaeodactylum tricorn...
NP_001005397 158 L--------M---G------------------SPNLNTS-NWLYLWVYLVFFNGIWVLVPALLLWQSWKDLERh 201 zebrafish
XP_006000623 156 L--------T---G------------------SPNLNTS-NWLYLWVYLAFFNGVWVVIPGLLLWQSWQGLKVM 199 coelacanth
XP_002593090 152 L--------T---G------------------SPSLDTS-NALYLWIYLVFFNGLWVVVPGLLMLQSWGELRDL 195 Florida lancelet
XP_011435279 147 L--------T---G------------------SNNLRTN-NFLYLWVYLVFFNGIWVVIPALLLVQSWQEIPFT 190 Pacific oyster
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