ID  P70245;
PN  3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase;
GN  Ebp;
OS  10090;
SL  Nucleus Position: SL-0178;
SL  Comments: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q15125}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q15125}. Nucleus envelope {ECO:0000250|UniProtKB:Q15125}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:Q15125}. Note=During interphase, detected on the endoplasmic reticulum and the nuclear envelope. During mitosis, detected on cytoplasmic vesicles. {ECO:0000250|UniProtKB:Q15125}.
DR  UNIPROT: P70245;
DR  UNIPROT: Q9CSP4;
DR  PROSITE: PS51751;
DE  Function: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. {ECO:0000269|PubMed:8798407}.
DE  Disease: Note=Defects in Ebp are a cause of 'Tattered' (Td) which is an X-linked, semidominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults. Craniofacial anomalies and twisted toes have also been observed in some affected females.
DE  Reference Proteome: Yes;
GO  GO:0031410;
GO  GO:0005783;
GO  GO:0005789;
GO  GO:0016021;
GO  GO:0043231;
GO  GO:0005635;
GO  GO:0000247;
GO  GO:0047750;
GO  GO:0042802;
GO  GO:0004769;
GO  GO:0006695;
GO  GO:0008203;
GO  GO:0030097;
GO  GO:0043931;
GO  GO:0016126;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MTTNTVPLHPYWPRHLKLDNFVPNDLPTSHILVGLFSISGGLIVITWLLSSRASVVPLGAGRRLALCWFAVCTFIHLVIE
SQ  GWFSLYNGILLEDQAFLSQLWKEYSKGDSRYILSDSFVVCMETVTACLWGPLSLWVVIAFLRQQPFRFVLQLVVSMGQIY
SQ  GDVLYFLTELHEGLQHGEIGHPVYFWFYFVFLNAVWLVIPSILVLDAIKHLTSAQSVLDSKVMKIKSKHN
//