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Conserved domains on  [gi|5729810|ref|NP_006570|]
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3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase [Homo sapiens]

Protein Classification

emopamil-binding family protein( domain architecture ID 10526086)

emopamil-binding family protein (EBP) similar to Homo sapiens 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase and emopamil-binding protein-like may be involved in sterol metabolism or the regulation of cholesterol homeostasis

PubMed:  8798407
TCDB:  8.A.93

Graphical summary

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List of domain hits

 Name Accession Description Interval E-value
EBP pfam05241
EXPERA (EXPanded EBP superfamily); The EXPERA (EXPanded EBP superfamily) domain is conserved ...
 96-207 2.40e-23

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.


:

Pssm-ID: 461600  Cd Length: 112  Bit Score: 90.29  E-value: 2.40e-23
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 5729810     96 FLSQLWKEYaKGDSR-YILGDNFTVCMETITACLWGPLSLWVVIAFLRQ----HPLRFILQLVVSVGQIYGDVLYFLTEH 170
Cdd:pfam05241   1 FLAQLWKEY-LADTSdPFVAGPPFVSFELLEAFFQGPLFFLAAYALLKSpwrlLLLRYALQTATTTLQCYGDVLYFATEW 79

                          90       100       110
                  ....*....|....*....|....*....|....*..
gi 5729810    171 RDgfqhGELGHPLYFWFYFVFMNALWLVLPGVLVLDA 207
Cdd:pfam05241  80 LE----GGLSLSRPFWVYLVFLNLPWLVIPLLLLVDS 112
 
Name Accession Description Interval E-value
EBP pfam05241
EXPERA (EXPanded EBP superfamily); The EXPERA (EXPanded EBP superfamily) domain is conserved ...
 96-207 2.40e-23

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.


Pssm-ID: 461600  Cd Length: 112  Bit Score: 90.29  E-value: 2.40e-23
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 5729810     96 FLSQLWKEYaKGDSR-YILGDNFTVCMETITACLWGPLSLWVVIAFLRQ----HPLRFILQLVVSVGQIYGDVLYFLTEH 170
Cdd:pfam05241   1 FLAQLWKEY-LADTSdPFVAGPPFVSFELLEAFFQGPLFFLAAYALLKSpwrlLLLRYALQTATTTLQCYGDVLYFATEW 79

                          90       100       110
                  ....*....|....*....|....*....|....*..
gi 5729810    171 RDgfqhGELGHPLYFWFYFVFMNALWLVLPGVLVLDA 207
Cdd:pfam05241  80 LE----GGLSLSRPFWVYLVFLNLPWLVIPLLLLVDS 112
 
Name Accession Description Interval E-value
EBP pfam05241
EXPERA (EXPanded EBP superfamily); The EXPERA (EXPanded EBP superfamily) domain is conserved ...
 96-207 2.40e-23

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.


Pssm-ID: 461600  Cd Length: 112  Bit Score: 90.29  E-value: 2.40e-23
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 5729810     96 FLSQLWKEYaKGDSR-YILGDNFTVCMETITACLWGPLSLWVVIAFLRQ----HPLRFILQLVVSVGQIYGDVLYFLTEH 170
Cdd:pfam05241   1 FLAQLWKEY-LADTSdPFVAGPPFVSFELLEAFFQGPLFFLAAYALLKSpwrlLLLRYALQTATTTLQCYGDVLYFATEW 79

                          90       100       110
                  ....*....|....*....|....*....|....*..
gi 5729810    171 RDgfqhGELGHPLYFWFYFVFMNALWLVLPGVLVLDA 207
Cdd:pfam05241  80 LE----GGLSLSRPFWVYLVFLNLPWLVIPLLLLVDS 112
 
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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