3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

Details

Name
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Synonyms
  • 5.3.3.5
  • Cholestenol Delta-isomerase
  • D8-D7 sterol isomerase
  • Delta(8)-Delta(7) sterol isomerase
  • Emopamil-binding protein
Gene Name
EBP
Organism
Humans
Amino acid sequence
>lcl|BSEQ0017552|3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGT
WRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVC
METITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELG
HPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
Number of residues
230
Molecular Weight
26352.615
Theoretical pI
Not Available
GO Classification
Functions
C-8 sterol isomerase activity / cholestenol delta-isomerase activity / drug transmembrane transporter activity / steroid delta-isomerase activity / transmembrane signaling receptor activity
Processes
cholesterol biosynthetic process / cholesterol metabolic process / drug transmembrane transport / hemopoiesis / signal transduction / skeletal system development / small molecule metabolic process
Components
endoplasmic reticulum / endoplasmic reticulum membrane / integral component of plasma membrane
General Function
Transmembrane signaling receptor activity
Specific Function
Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.
Pfam Domain Function
Transmembrane Regions
29-49 66-86 121-141 185-205
Cellular Location
Endoplasmic reticulum membrane
Gene sequence
>lcl|BSEQ0017553|3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase (EBP)
ATGACTACCAACGCGGGCCCCTTGCACCCATACTGGCCTCAGCACCTAAGACTGGACAAC
TTTGTACCTAATGACCGCCCCACCTGGCATATACTGGCTGGCCTCTTCTCTGTCACAGGG
GTCTTAGTCGTGACCACATGGCTGTTGTCAGGTCGTGCTGCGGTTGTCCCATTGGGGACT
TGGCGGCGACTGTCCCTGTGCTGGTTTGCAGTGTGTGGGTTCATTCACCTGGTGATCGAG
GGCTGGTTCGTTCTCTACTACGAAGACCTGCTTGGAGACCAAGCCTTCTTATCTCAACTC
TGGAAAGAGTATGCCAAGGGAGACAGCCGATACATCCTGGGTGACAACTTCACAGTGTGC
ATGGAAACCATCACAGCTTGCCTGTGGGGACCACTCAGCCTGTGGGTGGTGATCGCCTTT
CTCCGCCAGCATCCCCTCCGCTTCATTCTACAGCTTGTGGTCTCTGTGGGCCAGATCTAT
GGGGATGTGCTCTACTTCCTGACAGAGCACCGCGACGGATTCCAGCACGGAGAGCTGGGC
CACCCTCTCTACTTCTGGTTTTACTTTGTCTTCATGAATGCCCTGTGGCTGGTGCTGCCT
GGAGTCCTTGTGCTTGATGCTGTGAAGCACCTCACTCATGCCCAGAGCACGCTGGATGCC
AAGGCCACAAAAGCCAAGAGCAAGAAGAACTGA
Chromosome Location
X
Locus
Not Available
External Identifiers
ResourceLink
UniProtKB IDQ15125
UniProtKB Entry NameEBP_HUMAN
HGNC IDHGNC:3133
General References
  1. 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. [Article]
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  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. [Article]
  5. Milunsky JM, Maher TA, Metzenberg AB: Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Am J Med Genet A. 2003 Jan 30;116A(3):249-54. [Article]
  6. 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. [Article]
  7. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [Article]
  8. Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF: A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674. [Article]
  9. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [Article]
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  11. 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. [Article]
  12. 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. [Article]
  13. 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. [Article]
  14. 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. [Article]
  15. Kolb-Maurer A, Grzeschik KH, Haas D, Brocker EB, Hamm H: Conradi-Hunermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. Acta Derm Venereol. 2008;88(1):47-51. doi: 10.2340/00015555-0337. [Article]
  16. Hartill VL, Tysoe C, Manning N, Dobbie A, Santra S, Walter J, Caswell R, Koster J, Waterham H, Hobson E: An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. Am J Med Genet A. 2014 Apr;164A(4):907-14. doi: 10.1002/ajmg.a.36368. Epub 2014 Jan 23. [Article]
  17. Barboza-Cerda MC, Wong LJ, Martinez-de-Villarreal LE, Zhang VW, Dector MA: A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2. Am J Med Genet A. 2014 Jul;164A(7):1642-7. doi: 10.1002/ajmg.a.36508. Epub 2014 Apr 3. [Article]
  18. Ozyurt K, Subasioglu A, Ozturk P, Inci R, Ozkan F, Bueno E, Canueto J, Gonzalez Sarmiento R: Emopamil binding protein mutation in conradi-hunermann-happle syndrome representing plaque-type psoriasis. Indian J Dermatol. 2015 Mar-Apr;60(2):216. doi: 10.4103/0019-5154.152570. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00675TamoxifenapprovedunknowninhibitorDetails