| 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 |
| catalytic activity |
| intramolecular oxidoreductase activity, transposing c=c bonds |
| cholestenol delta-isomerase activity |
| isomerase activity |
| intramolecular oxidoreductase activity |
| 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 |