6OHU


Conserved Protein Domain Family
EBP
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pfam05241: EBP 
EXPERA (EXPanded EBP superfamily)
The EXPERA (EXPanded EBP superfamily) domain is conserved among the following protein families: TM6SF1 (Transmembrane 6 Superfamily Member 1), TM6SF2 (Transmembrane 6 Superfamily Member 2), MAC30 (Meningioma-associated protein 30 also known as TMEM97, or Transmembrane protein 97), and EBP (Emopamil binding protein). EBP is an enzyme with a D8, D7 sterol isomerase activity that catalyzes the transposition of a double bond from C8=C9 to C7=C8 in the sterol B-ring. 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: 461600
Aligned: 676 rows
Threshold Bit Score: 29.8112
Created: 22-Mar-2022
Updated: 17-Oct-2022
Structure
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Program:
Drawing:
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: 
6OHU_A       104 FLSQLWKEYaKGDSR-YILgdn-------ftVCMETITACLWGPLSLWVVIAFLr-Qh-----PLRFILQLVVSVGQIYG 169
WP_055918463  64 ILAQWNYTY--SSQYdPLYmhep-----lwlRFITGTSAFVYLPFYILLIVCLVkgFnwiqlfCVIYATMIISLTAIPIF 136 Leifsonia sp. L...
PJJ63547      59 FFANSNYWY--AHDAdPLFmnpp-----awmRIVTGLSAFVYMPFYIVLVYALAtgRnwiqlpSVIYGTMISTITGIIVF 131
SDZ12110      84 WLAQSNYWY--GHDAdPLFidpp-----vwmRFVTGLSAFVYGPFYLLLAFCLLtgRnwiqlpAVIYASAISMITGVVVF 156
SEP01761      49 FFVQSNYWY--AHDAdVLFmhpp-----dwmRIVTGLSAFVYMPFYVLLVYCLLtgRnwiqlfAVIYATMIVTLTGVVVF 121
KQV07754      44 FFVNSNWWY-VHDTDpLFMtpp------vwmRIVTGLSAFVYMPFYVVLVLSLVrgWnwiqlpSVIYATMIASITGIIVF 116
WP_012832223  62 FLVNANWWY--AHDTdPLFmhpp-----vwmRIVTGLSAFVYPVFYVLLVISLVrgWnwiqlpSVIYATMIASITGVIVF 134 Gordonia bronch...
RDG34055      49 FIARANYAY--AYGTdPLFlftadhpvpvwmRFVTGLSAFVYPVFYILFIVSAIkgWnriqvpAVMYATSISVITGVVVF 126
PRQ02233      43 PFGRAWLLY---TRWdPLFldtp-----mwlRIMCGIDGFVFGPFYLVLIWALWreRgwirvpALLYVSAIVYSTLVYFG 114
EDM80433      78 PFAKAWLLY---ASWdPLFfdnp-----mwlRIMCGIDAFVFGPFYLLLIPALArgWnairvpALLYVSAIVYSTAVYFG 149

6OHU_A       170 DVLYFLTEHRDgfqhGELGHPLYFWFYFVFMNALWLVLPGVLVLDA 215
WP_055918463 137 GVEFFGP---V-------GERTPNPVVFLLYNGPYVLVPLLLLIRM 172 Leifsonia sp. Leaf336
PJJ63547     132 GVEFFGE--------PEFQTQN--PAKFLAFNLAYVLVPILLLIRM 167
SDZ12110     157 GVEFFGE--------PEFQTQN--PLKFLAFNLPYVIIPILLLIRM 192
SEP01761     122 GVEFFGDPAMR----------TGNPGKFLAFNLPYVLVPLLLLIRM 157
KQV07754     117 GVEFFGE---A----QWVTP-N--PVKFLAFNLPYVLIPILLLIRM 152
WP_012832223 135 GVEFFGE---P----EWVTPNP---AKFLAFNLPYVLIPILLLIRM 170 Gordonia bronchialis
RDG34055     127 GVEFFGE--------PEW-RCQN-IPKFLSLNLPYVLIPLFLLVRM 162
PRQ02233     115 YEFAVEG-----------E--RADLAMVVLINVPYTIVPLILAWRM 147
EDM80433     150 YEFIVEA--------G---RAN--LTMVVLVNIPYTLMPLVLGWRM 182
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