ID  Q15125;
PN  3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase;
GN  EBP;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Comments: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10406945}; Multi-pass membrane protein {ECO:0000305}. Nucleus envelope {ECO:0000269|PubMed:10406945}. Cytoplasmic vesicle {ECO:0000269|PubMed:10406945}. Note=During interphase, detected on the endoplasmic reticulum and the nuclear envelope. During mitosis, detected on cytoplasmic vesicles. {ECO:0000269|PubMed:10406945}.
DR  UNIPROT: Q15125;
DR  UNIPROT: Q6FGL3;
DR  UNIPROT: Q6IBI9;
DR  PDB: 6OHT;
DR  PDB: 6OHU;
DR  PROSITE: PS51751;
DR  OMIM: 300205;
DR  OMIM: 300960;
DR  OMIM: 302960;
DR  DisGeNET: 10682;
DE  Function: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009}.
DE  Disease: Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues. {ECO:0000269|PubMed:10391218, ECO:0000269|PubMed:10391219, ECO:0000269|PubMed:10942423, ECO:0000269|PubMed:11493318, ECO:0000269|PubMed:18176751, ECO:0000269|PubMed:25814754}. Note=The disease is caused by variants affecting the gene represented in this entry. MEND syndrome (MEND) [MIM:300960]: An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. {ECO:0000269|PubMed:12503101, ECO:0000269|PubMed:20949533, ECO:0000269|PubMed:24459067, ECO:0000269|PubMed:24700572}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: A0A142I5B9; IntAct: EBI-20626314; Score: 0.35
DE  Interaction: A0PK00; IntAct: EBI-24669908; Score: 0.56
DE  Interaction: P0DTD1; IntAct: EBI-25686067; Score: 0.35
DE  Interaction: Q05397; IntAct: EBI-20903608; Score: 0.40
DE  Interaction: O75030; IntAct: EBI-3915259; Score: 0.37
DE  Interaction: Q9WMX2; IntAct: EBI-9083439; Score: 0.37
DE  Interaction: Q9Z1B5; IntAct: EBI-10996176; Score: 0.35
DE  Interaction: P14625; IntAct: EBI-11044830; Score: 0.35
DE  Interaction: Q92542; IntAct: EBI-11046886; Score: 0.35
DE  Interaction: O75446; IntAct: EBI-11060854; Score: 0.35
DE  Interaction: Q8BGH2; IntAct: EBI-11097023; Score: 0.35
DE  Interaction: Q9R0Q3; IntAct: EBI-11111571; Score: 0.35
DE  Interaction: Q8K1S6; IntAct: EBI-11147685; Score: 0.35
DE  Interaction: Q6NUS6; IntAct: EBI-11368748; Score: 0.27
DE  Interaction: Q96GX1; IntAct: EBI-11375285; Score: 0.27
DE  Interaction: P49286; IntAct: EBI-11576336; Score: 0.37
DE  Interaction: P27105; IntAct: EBI-12452286; Score: 0.51
DE  Interaction: Q5T700; IntAct: EBI-24310594; Score: 0.56
DE  Interaction: Q8WWP7; IntAct: EBI-24268159; Score: 0.56
DE  Interaction: P02724; IntAct: EBI-22752401; Score: 0.56
DE  Interaction: Q8IXM6; IntAct: EBI-22753239; Score: 0.56
DE  Interaction: Q9BXJ8; IntAct: EBI-22754310; Score: 0.56
DE  Interaction: Q8IWU4; IntAct: EBI-22754620; Score: 0.56
DE  Interaction: Q9BWM7; IntAct: EBI-22754569; Score: 0.56
DE  Interaction: Q6UX98; IntAct: EBI-24270634; Score: 0.56
DE  Interaction: O95167; IntAct: EBI-24271223; Score: 0.56
DE  Interaction: P23141; IntAct: EBI-22757994; Score: 0.56
DE  Interaction: Q08426; IntAct: EBI-22758661; Score: 0.56
DE  Interaction: Q9NVC3; IntAct: EBI-22759787; Score: 0.56
DE  Interaction: Q6P1K1; IntAct: EBI-22760233; Score: 0.56
DE  Interaction: Q9H2L4; IntAct: EBI-24272883; Score: 0.56
DE  Interaction: Q96G79; IntAct: EBI-22760053; Score: 0.56
DE  Interaction: Q96BA8; IntAct: EBI-24631155; Score: 0.56
DE  Interaction: Q96GQ5; IntAct: EBI-24659828; Score: 0.56
DE  Interaction: Q9NRX6; IntAct: EBI-24660186; Score: 0.56
DE  Interaction: Q3SXY8; IntAct: EBI-23669642; Score: 0.56
DE  Interaction: Q9BU79; IntAct: EBI-24661627; Score: 0.56
DE  Interaction: Q9NZG7; IntAct: EBI-24663072; Score: 0.56
DE  Interaction: P23763; IntAct: EBI-24664214; Score: 0.56
DE  Interaction: P63027; IntAct: EBI-24667622; Score: 0.56
DE  Interaction: Q9Y385; IntAct: EBI-24670704; Score: 0.56
DE  Interaction: P01031; IntAct: EBI-23688881; Score: 0.56
DE  Interaction: A5PKU2; IntAct: EBI-24671905; Score: 0.56
DE  Interaction: Q13190; IntAct: EBI-24673341; Score: 0.56
DE  Interaction: Q96CP7; IntAct: EBI-24673683; Score: 0.56
DE  Interaction: O75396; IntAct: EBI-24674462; Score: 0.56
DE  Interaction: B2RUZ4; IntAct: EBI-24675325; Score: 0.56
DE  Interaction: O43759; IntAct: EBI-24676164; Score: 0.56
DE  Interaction: P81534; IntAct: EBI-24677503; Score: 0.56
DE  Interaction: Q8TBM7; IntAct: EBI-24681654; Score: 0.56
DE  Interaction: O14653; IntAct: EBI-24684144; Score: 0.56
DE  Interaction: P07204; IntAct: EBI-24684847; Score: 0.56
DE  Interaction: Q8N2H4; IntAct: EBI-24685442; Score: 0.56
DE  Interaction: Q9Y342; IntAct: EBI-24686559; Score: 0.56
DE  Interaction: Q7Z4F1; IntAct: EBI-23718808; Score: 0.56
DE  Interaction: P43378; IntAct: EBI-24688841; Score: 0.56
DE  Interaction: P17152; IntAct: EBI-24690030; Score: 0.56
DE  Interaction: O95870; IntAct: EBI-24690968; Score: 0.56
DE  Interaction: Q8N6S5; IntAct: EBI-24694418; Score: 0.56
DE  Interaction: Q9NV29; IntAct: EBI-24695294; Score: 0.56
DE  Interaction: Q16873; IntAct: EBI-23732251; Score: 0.56
DE  Interaction: Q96BZ9; IntAct: EBI-24696326; Score: 0.56
DE  Interaction: P30519; IntAct: EBI-23733774; Score: 0.56
DE  Interaction: Q9NW97; IntAct: EBI-24698352; Score: 0.56
DE  Interaction: Q9Y6X1; IntAct: EBI-24698993; Score: 0.56
DE  Interaction: Q96LL9; IntAct: EBI-24699507; Score: 0.56
DE  Interaction: Q86Y82; IntAct: EBI-24702845; Score: 0.56
DE  Interaction: Q92982; IntAct: EBI-24703744; Score: 0.56
DE  Interaction: P49447; IntAct: EBI-24704221; Score: 0.56
DE  Interaction: Q8N2M4; IntAct: EBI-24706015; Score: 0.56
DE  Interaction: Q8N8N0; IntAct: EBI-24705925; Score: 0.56
DE  Interaction: Q8NBD8; IntAct: EBI-24706316; Score: 0.56
DE  Interaction: Q8TD22; IntAct: EBI-24707774; Score: 0.56
DE  Interaction: Q9UGM5; IntAct: EBI-24708280; Score: 0.56
DE  Interaction: O75379; IntAct: EBI-24711580; Score: 0.56
DE  Interaction: Q9HD20; IntAct: EBI-24716721; Score: 0.56
DE  Interaction: Q8TDT2; IntAct: EBI-24716697; Score: 0.56
DE  Interaction: Q969S6; IntAct: EBI-24716998; Score: 0.56
DE  Interaction: O95452; IntAct: EBI-24717966; Score: 0.56
DE  Interaction: Q6ZSS7; IntAct: EBI-24719764; Score: 0.56
DE  Interaction: Q96F15; IntAct: EBI-23774914; Score: 0.56
DE  Interaction: Q9Y282; IntAct: EBI-24721575; Score: 0.56
DE  Interaction: Q969E2; IntAct: EBI-24722338; Score: 0.56
DE  Interaction: Q9BZL3; IntAct: EBI-24722570; Score: 0.56
DE  Interaction: Q15125; IntAct: EBI-24723056; Score: 0.56
DE  Interaction: Q9Y5Z9; IntAct: EBI-24725377; Score: 0.56
DE  Interaction: O15400; IntAct: EBI-23784204; Score: 0.56
DE  Interaction: O43169; IntAct: EBI-23784333; Score: 0.56
DE  Interaction: O14925; IntAct: EBI-24728082; Score: 0.56
DE  Interaction: Q12983; IntAct: EBI-24729517; Score: 0.56
DE  Interaction: Q15836; IntAct: EBI-24730650; Score: 0.56
DE  Interaction: P50281; IntAct: EBI-24732670; Score: 0.56
DE  Interaction: Q9BSR8; IntAct: EBI-24732968; Score: 0.56
DE  Interaction: Q9UNK0; IntAct: EBI-24732900; Score: 0.56
DE  Interaction: Q9P0L0; IntAct: EBI-24733627; Score: 0.56
DE  Interaction: Q8N661; IntAct: EBI-24733842; Score: 0.56
DE  Interaction: Q13520; IntAct: EBI-23803453; Score: 0.56
DE  Interaction: Q9NUH8; IntAct: EBI-24740093; Score: 0.56
DE  Interaction: Q5BJF2; IntAct: EBI-24740501; Score: 0.56
DE  Interaction: Q9NV12; IntAct: EBI-24747854; Score: 0.56
DE  Interaction: Q7Z5P4; IntAct: EBI-23821019; Score: 0.56
DE  Interaction: Q9NRQ5; IntAct: EBI-24750511; Score: 0.56
DE  Interaction: Q96EC8; IntAct: EBI-24751251; Score: 0.56
DE  Interaction: Q6PI78; IntAct: EBI-24752570; Score: 0.56
DE  Interaction: Q7L5A8; IntAct: EBI-24753438; Score: 0.56
DE  Interaction: Q8NHS1; IntAct: EBI-24753392; Score: 0.56
DE  Interaction: Q9NWH2; IntAct: EBI-24756813; Score: 0.56
DE  Interaction: Q9NX14; IntAct: EBI-24756945; Score: 0.56
DE  Interaction: Q9BTX3; IntAct: EBI-24763251; Score: 0.56
DE  Interaction: P60033; IntAct: EBI-24764608; Score: 0.56
DE  Interaction: Q9BVK8; IntAct: EBI-24764734; Score: 0.56
DE  Interaction: Q9H1M4; IntAct: EBI-24765471; Score: 0.56
DE  Interaction: Q9UHE5; IntAct: EBI-24765482; Score: 0.56
DE  Interaction: Q9P0S3; IntAct: EBI-24766077; Score: 0.56
DE  Interaction: Q9UKR5; IntAct: EBI-24767459; Score: 0.56
DE  Interaction: A2RU14; IntAct: EBI-24768914; Score: 0.56
DE  Interaction: Q68G75; IntAct: EBI-24769184; Score: 0.56
DE  Interaction: Q86W74; IntAct: EBI-24769830; Score: 0.56
DE  Interaction: Q9H2C2; IntAct: EBI-24779387; Score: 0.56
DE  Interaction: Q04941; IntAct: EBI-24781694; Score: 0.56
DE  Interaction: Q9H1C4; IntAct: EBI-24782065; Score: 0.56
DE  Interaction: O95393; IntAct: EBI-24782166; Score: 0.56
DE  Interaction: Q9Y5U4; IntAct: EBI-24782454; Score: 0.56
DE  Interaction: Q9H0R3; IntAct: EBI-24783086; Score: 0.56
DE  Interaction: O14523; IntAct: EBI-24783925; Score: 0.56
DE  Interaction: Q9NTJ5; IntAct: EBI-24784958; Score: 0.56
DE  Interaction: Q16617; IntAct: EBI-24785619; Score: 0.56
DE  Interaction: Q8WW34; IntAct: EBI-24786375; Score: 0.56
DE  Interaction: P61266; IntAct: EBI-24787698; Score: 0.56
DE  Interaction: Q9P0B6; IntAct: EBI-24795437; Score: 0.56
DE  Interaction: Q14318; IntAct: EBI-24797367; Score: 0.56
DE  Interaction: Q96IV6; IntAct: EBI-24797582; Score: 0.56
DE  Interaction: P25942; IntAct: EBI-23911966; Score: 0.56
DE  Interaction: Q2M3R5; IntAct: EBI-25279560; Score: 0.56
DE  Interaction: Q9BV81; IntAct: EBI-25282644; Score: 0.56
DE  Interaction: P08195; IntAct: EBI-25283560; Score: 0.56
DE  Interaction: Q9Y548; IntAct: EBI-25283492; Score: 0.56
DE  Interaction: Q53HI1; IntAct: EBI-23922913; Score: 0.56
DE  Interaction: Q9BWH2; IntAct: EBI-25286529; Score: 0.56
DE  Interaction: Q96AG4; IntAct: EBI-24548327; Score: 0.56
DE  Interaction: Q07108; IntAct: EBI-24594671; Score: 0.56
DE  Interaction: Q8N138; IntAct: EBI-24641145; Score: 0.56
DE  Interaction: Q8N511; IntAct: EBI-25145474; Score: 0.56
DE  Interaction: Q53FV1; IntAct: EBI-24641826; Score: 0.56
DE  Interaction: Q8NHW4; IntAct: EBI-24642201; Score: 0.56
DE  Interaction: P15151; IntAct: EBI-24644197; Score: 0.56
DE  Interaction: Q8WVV5; IntAct: EBI-24646926; Score: 0.56
DE  Interaction: P54849; IntAct: EBI-24647331; Score: 0.56
DE  Interaction: Q8IY26; IntAct: EBI-24647840; Score: 0.56
DE  Interaction: Q9NSU2; IntAct: EBI-24652174; Score: 0.56
DE  Interaction: Q99519; IntAct: EBI-24652828; Score: 0.56
DE  Interaction: Q01453; IntAct: EBI-24654227; Score: 0.56
DE  Interaction: P55061; IntAct: EBI-24654827; Score: 0.56
DE  Interaction: Q8WVX3; IntAct: EBI-24654804; Score: 0.56
DE  Interaction: Q9Y5U9; IntAct: EBI-24656328; Score: 0.56
DE  Interaction: Q6UX34; IntAct: EBI-24657064; Score: 0.56
DE  Interaction: P57105; IntAct: EBI-24659444; Score: 0.56
DE  Interaction: Q96JW4; IntAct: EBI-24746616; Score: 0.56
DE  Interaction: Q5JX71; IntAct: EBI-24758742; Score: 0.56
DE  Interaction: Q5TGU0; IntAct: EBI-24762253; Score: 0.56
DE  Interaction: Q14802; IntAct: EBI-24774166; Score: 0.56
DE  Interaction: A0AVG3; IntAct: EBI-24776609; Score: 0.56
DE  Interaction: Q9NZ43; IntAct: EBI-24789687; Score: 0.56
DE  Interaction: Q7L5N7; IntAct: EBI-24790934; Score: 0.56
DE  Interaction: Q0VAQ4; IntAct: EBI-24790824; Score: 0.56
DE  Interaction: Q96MV1; IntAct: EBI-25203477; Score: 0.56
DE  Interaction: Q5J8X5; IntAct: EBI-24791226; Score: 0.56
DE  Interaction: Q8N6R1; IntAct: EBI-25205775; Score: 0.56
DE  Interaction: O95070; IntAct: EBI-24799738; Score: 0.56
DE  Interaction: P54315; IntAct: EBI-24800746; Score: 0.56
DE  Interaction: Q69YG0; IntAct: EBI-24801451; Score: 0.56
DE  Interaction: P29033; IntAct: EBI-24803571; Score: 0.56
DE  Interaction: Q9P0S9; IntAct: EBI-25216661; Score: 0.56
DE  Interaction: Q6UWT4; IntAct: EBI-24806821; Score: 0.56
DE  Interaction: O95292; IntAct: EBI-24808346; Score: 0.56
DE  Interaction: Q2M2E3; IntAct: EBI-25223826; Score: 0.56
DE  Interaction: O14735; IntAct: EBI-24810822; Score: 0.56
DE  Interaction: Q9H9P2; IntAct: EBI-24810960; Score: 0.56
DE  Interaction: P06681; IntAct: EBI-25266575; Score: 0.56
DE  Interaction: O43752; IntAct: EBI-25266516; Score: 0.56
DE  Interaction: Q5QGT7; IntAct: EBI-25268527; Score: 0.56
DE  Interaction: P78329; IntAct: EBI-25269159; Score: 0.56
DE  Interaction: Q8N5M9; IntAct: EBI-25270965; Score: 0.56
DE  Interaction: Q9H0Q3; IntAct: EBI-25273560; Score: 0.56
DE  Interaction: O95159; IntAct: EBI-25273227; Score: 0.56
DE  Interaction: Q9Y3D6; IntAct: EBI-25274191; Score: 0.56
DE  Interaction: Q7RTS5; IntAct: EBI-25274864; Score: 0.56
DE  Interaction: O43889; IntAct: EBI-12701192; Score: 0.56
DE  Interaction: Q8IWL3; IntAct: EBI-13943458; Score: 0.35
DE  Interaction: Q8IVT5; IntAct: EBI-14035152; Score: 0.35
DE  Interaction: Q99679; IntAct: EBI-21516430; Score: 0.35
DE  Interaction: P06028; IntAct: EBI-21557067; Score: 0.35
DE  Interaction: P35414; IntAct: EBI-21559824; Score: 0.35
DE  Interaction: Q8TD20; IntAct: EBI-21562097; Score: 0.35
DE  Interaction: P41587; IntAct: EBI-21567910; Score: 0.35
DE  Interaction: Q8NHX9; IntAct: EBI-21578009; Score: 0.35
DE  Interaction: O95274; IntAct: EBI-21607810; Score: 0.35
DE  Interaction: P32241; IntAct: EBI-21613594; Score: 0.35
DE  Interaction: Q9H244; IntAct: EBI-21614520; Score: 0.35
DE  Interaction: Q9H2J7; IntAct: EBI-21614809; Score: 0.35
DE  Interaction: Q9ULW2; IntAct: EBI-21704037; Score: 0.35
DE  Interaction: Q00765; IntAct: EBI-21723128; Score: 0.35
DE  Interaction: P46098; IntAct: EBI-21749232; Score: 0.35
DE  Interaction: Q96G97; IntAct: EBI-21755399; Score: 0.35
DE  Interaction: P25101; IntAct: EBI-21755472; Score: 0.35
DE  Interaction: Q9Y2T5; IntAct: EBI-21760939; Score: 0.35
DE  Interaction: Q53R12; IntAct: EBI-21829296; Score: 0.35
DE  Interaction: P04899; IntAct: EBI-21830586; Score: 0.40
DE  Interaction: Q8NHS3; IntAct: EBI-21887118; Score: 0.35
DE  Interaction: P05161; IntAct: EBI-16720078; Score: 0.35
DE  Interaction: P05067; IntAct: EBI-20769256; Score: 0.37
DE  Interaction: Q12816; IntAct: EBI-20904848; Score: 0.40
DE  Interaction: Q5S007; IntAct: EBI-21360986; Score: 0.35
DE  Interaction: P13569; IntAct: EBI-25416349; Score: 0.35
DE  Interaction: Q5T9L3; IntAct: EBI-22085230; Score: 0.49
GO  GO:0031410;
GO  GO:0005783;
GO  GO:0005789;
GO  GO:0030176;
GO  GO:0005635;
GO  GO:0000247;
GO  GO:0047750;
GO  GO:0042802;
GO  GO:0004769;
GO  GO:0006695;
GO  GO:0033489;
GO  GO:0033490;
GO  GO:0008203;
GO  GO:0030097;
GO  GO:0043931;
GO  GO:0016126;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIE
SQ  GWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIY
SQ  GDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
//