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Gene id 10682
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol EBP   Gene   UCSC   Ensembl
Aliases CDPX2, CHO2, CPX, CPXD, MEND
Gene name EBP cholestenol delta-isomerase
Alternate names 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase, 3-beta-hydroxysteroid-delta-8,delta-7-isomerase, Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome), D8-D7 sterol isomerase, cholestenol Delta-isomerase, delta(8)-Delta(7) sterol isomerase, emopam,
Gene location Xp11.23 (7018335: 7015868)     Exons: 4     NC_000008.11
Gene summary(Entrez) The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is simil
OMIM 300205

Protein Summary
Protein general information Q15125  

Name: 3 beta hydroxysteroid Delta(8),Delta(7) isomerase (EC 5.3.3.5) (Cholestenol Delta isomerase) (Delta(8) Delta(7) sterol isomerase) (D8 D7 sterol isomerase) (Emopamil binding protein)

Length: 230  Mass: 26353

Sequence MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFI
HLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFIL
QLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKA
KSKKN
Structural information
Protein Domains
 (61..20-)
(/note="EXPERA-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU01087"-)
Interpro:  IPR007905  IPR033118  
Prosite:   PS51751

PDB:  		 6OHT 6OHU
PDBsum:   6OHT 6OHU
STRING:   ENSP00000417052
Other Databases GeneCards:  EBP  Malacards:  EBP

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0006695 cholesterol biosynthetic
process
 IBA biological process
GO:0005783 endoplasmic reticulum
 IBA cellular component
GO:0004769 steroid delta-isomerase a
ctivity
 IBA molecular function
GO:0016126 sterol biosynthetic proce
ss
 IBA biological process
GO:0000247 C-8 sterol isomerase acti
vity
 IBA molecular function
GO:0006695 cholesterol biosynthetic
process
 IDA biological process
GO:0004769 steroid delta-isomerase a
ctivity
 IDA molecular function
GO:0005783 endoplasmic reticulum
 IDA cellular component
GO:0005635 nuclear envelope
 IDA cellular component
GO:0000247 C-8 sterol isomerase acti
vity
 ISS molecular function
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0016125 sterol metabolic process
 IEA biological process
GO:0047750 cholestenol delta-isomera
se activity
 IEA molecular function
GO:0031410 cytoplasmic vesicle
 IEA cellular component
GO:0005783 endoplasmic reticulum
 IEA cellular component
GO:0006695 cholesterol biosynthetic
process
 IEA biological process
GO:0005634 nucleus
 IEA cellular component
GO:0008202 steroid metabolic process
 IEA biological process
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0016853 isomerase activity
 IEA molecular function
GO:0008203 cholesterol metabolic pro
cess
 IEA biological process
GO:0016020 membrane
 IEA cellular component
GO:0006629 lipid metabolic process
 IEA biological process
GO:0006694 steroid biosynthetic proc
ess
 IEA biological process
GO:0016126 sterol biosynthetic proce
ss
 IEA biological process
GO:0004888 transmembrane signaling r
eceptor activity
 TAS molecular function
GO:0004769 steroid delta-isomerase a
ctivity
 TAS molecular function
GO:0042910 xenobiotic transmembrane
transporter activity
 TAS molecular function
GO:0005887 integral component of pla
sma membrane
 TAS cellular component
GO:0008203 cholesterol metabolic pro
cess
 TAS biological process
GO:0001501 skeletal system developme
nt
 TAS biological process
GO:0005783 endoplasmic reticulum
 TAS cellular component
GO:0047750 cholestenol delta-isomera
se activity
 IEA molecular function
GO:0004769 steroid delta-isomerase a
ctivity
 EXP molecular function
GO:0004769 steroid delta-isomerase a
ctivity
 EXP molecular function
GO:0033489 cholesterol biosynthetic
process via desmosterol
 TAS biological process
GO:0033490 cholesterol biosynthetic
process via lathosterol
 TAS biological process
GO:0005789 endoplasmic reticulum mem
brane
 TAS cellular component
GO:0005789 endoplasmic reticulum mem
brane
 TAS cellular component
GO:0042802 identical protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005789 endoplasmic reticulum mem
brane
 IEA cellular component
GO:0005635 nuclear envelope
 IEA cellular component
GO:0005783 endoplasmic reticulum
 IDA cellular component
GO:0042908 xenobiotic transport
 IEA biological process
GO:0006695 cholesterol biosynthetic
process
 IEA biological process

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa01100Metabolic pathways
hsa00100Steroid biosynthesis

Diseases

Expand All | Collapse All
Associated diseases References
X-linked chondrodysplasia punctata KEGG:H01194
MEND syndrome KEGG:H02248
X-linked chondrodysplasia punctata KEGG:H01194
MEND syndrome KEGG:H02248
Chondrodysplasia punctata PMID:10391218
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract