You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Identification
HMDB Protein ID HMDBP00949
Secondary Accession Numbers
  • 6237
Name 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Synonyms
  1. Cholestenol Delta-isomerase
  2. D8-D7 sterol isomerase
  3. Delta(8)-Delta(7) sterol isomerase
  4. Emopamil-binding protein
Gene Name EBP
Protein Type Unknown
Biological Properties
General Function Involved in cholestenol delta-isomerase activity
Specific Function Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.
Pathways
  • Alendronate Action Pathway
  • Atorvastatin Action Pathway
  • Cerivastatin Action Pathway
  • CHILD Syndrome
  • cholesterol biosynthesis
  • Cholesteryl ester storage disease
  • Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)
  • Desmosterolosis
  • Fluvastatin Action Pathway
  • Hyper-IgD syndrome
  • Hypercholesterolemia
  • Ibandronate Action Pathway
  • Lovastatin Action Pathway
  • Lysosomal Acid Lipase Deficiency (Wolman Disease)
  • Mevalonic aciduria
  • Pamidronate Action Pathway
  • Pravastatin Action Pathway
  • Risedronate Action Pathway
  • Rosuvastatin Action Pathway
  • Simvastatin Action Pathway
  • Smith-Lemli-Opitz Syndrome (SLOS)
  • Steroid biosynthesis
  • Steroid Biosynthesis
  • Wolman disease
  • Zoledronate Action Pathway
Reactions
Lathosterol → 5-alpha-cholest-8-en-3-beta-ol details
Lathosterol → ​5alpha-Cholest-8-en-3beta-ol details
Zymosterol intermediate 2 → 5a-Cholesta-7,24-dien-3b-ol details
4alpha-Methylfecosterol → 24-Methylenelophenol details
GO Classification
Biological Process
cholesterol biosynthetic process
hemopoiesis
skeletal system development
Cellular Component
endoplasmic reticulum membrane
integral to plasma membrane
Component
cell part
membrane part
endoplasmic reticulum
intrinsic to membrane
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
integral to membrane
Function
catalytic activity
intramolecular oxidoreductase activity, transposing c=c bonds
cholestenol delta-isomerase activity
isomerase activity
intramolecular oxidoreductase activity
Molecular Function
transmembrane signaling receptor activity
C-8 sterol isomerase activity
cholestenol delta-isomerase activity
drug transmembrane transporter activity
steroid delta-isomerase activity
Process
sterol metabolic process
metabolic process
small molecule metabolic process
alcohol metabolic process
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location X
Locus Xp11.23-p11.22
SNPs EBP
Gene Sequence
>693 bp
ATGACTACCAACGCGGGCCCCTTGCACCCATACTGGCCTCAGCACCTAAGACTGGACAAC
TTTGTACCTAATGACCGCCCCACCTGGCATATACTGGCTGGCCTCTTCTCTGTCACAGGG
GTCTTAGTCGTGACCACATGGCTGTTGTCAGGTCGTGCTGCGGTTGTCCCATTGGGGACT
TGGCGGCGACTGTCCCTGTGCTGGTTTGCAGTGTGTGGGTTCATTCACCTGGTGATCGAG
GGCTGGTTCGTTCTCTACTACGAAGACCTGCTTGGAGACCAAGCCTTCTTATCTCAACTC
TGGAAAGAGTATGCCAAGGGAGACAGCCGATACATCCTGGGTGACAACTTCACAGTGTGC
ATGGAAACCATCACAGCTTGCCTGTGGGGACCACTCAGCCTGTGGGTGGTGATCGCCTTT
CTCCGCCAGCATCCCCTCCGCTTCATTCTACAGCTTGTGGTCTCTGTGGGCCAGATCTAT
GGGGATGTGCTCTACTTCCTGACAGAGCACCGCGACGGATTCCAGCACGGAGAGCTGGGC
CACCCTCTCTACTTCTGGTTTTACTTTGTCTTCATGAATGCCCTGTGGCTGGTGCTGCCT
GGAGTCCTTGTGCTTGATGCTGTGAAGCACCTCACTCATGCCCAGAGCACGCTGGATGCC
AAGGCCACAAAAGCCAAGAGCAAGAAGAACTGA
Protein Properties
Number of Residues 230
Molecular Weight 26352.615
Theoretical pI 7.902
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGT
WRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVC
METITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELG
HPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
GenBank ID Protein 5729810
UniProtKB/Swiss-Prot ID Q15125
UniProtKB/Swiss-Prot Entry Name EBP_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_006579.2
GeneCard ID EBP
GenAtlas ID EBP
HGNC ID HGNC:3133
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed:15772651 ]
  3. Hanner M, Moebius FF, Weber F, Grabner M, Striessnig J, Glossmann H: Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression. J Biol Chem. 1995 Mar 31;270(13):7551-7. [PubMed:7706302 ]
  4. Moebius FF, Soellner KE, Fiechtner B, Huck CW, Bonn G, Glossmann H: Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization. Biochemistry. 1999 Jan 19;38(3):1119-27. [PubMed:9894009 ]
  5. Moebius FF, Fitzky BU, Wietzorrek G, Haidekker A, Eder A, Glossmann H: Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. Biochem J. 2003 Aug 15;374(Pt 1):229-37. [PubMed:12760743 ]
  6. Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE: Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. Nat Genet. 1999 Jul;22(3):286-90. [PubMed:10391218 ]
  7. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D: Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet. 1999 Jul;22(3):291-4. [PubMed:10391219 ]
  8. Has C, Bruckner-Tuderman L, Muller D, Floeth M, Folkers E, Donnai D, Traupe H: The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. Hum Mol Genet. 2000 Aug 12;9(13):1951-5. [PubMed:10942423 ]
  9. Becker K, Csikos M, Horvath A, Karpati S: Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hunermann-Happle syndrome. Exp Dermatol. 2001 Aug;10(4):286-9. [PubMed:11493318 ]