Identification |
HMDB Protein ID
| CDBP00892 |
Secondary Accession Numbers
| Not Available |
Name
| 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
Description
| Not Available |
Synonyms
|
- Cholestenol Delta-isomerase
- D8-D7 sterol isomerase
- Delta(8)-Delta(7) sterol isomerase
- Emopamil-binding protein
|
Gene Name
| EBP |
Protein Type
| Enzyme |
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.
|
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 |
cholestenol delta-isomerase activity |
isomerase activity |
intramolecular oxidoreductase activity |
catalytic activity |
intramolecular oxidoreductase activity, transposing c=c bonds |
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
|
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
|
Pathways
|
Name | SMPDB/Pathwhiz | KEGG | cholesterol biosynthesis | Not Available | Not Available | Steroid Biosynthesis | | | Smith-Lemli-Opitz Syndrome (SLOS) | | Not Available | CHILD Syndrome | | Not Available | Desmosterolosis | | Not Available |
|
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
|
External Links |
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
| Not Available |