| Identification |
| HMDB Protein ID
| CDBP00130 |
| Secondary Accession Numbers
| Not Available |
| Name
| Lathosterol oxidase |
| Description
| Not Available |
| Synonyms
|
- C-5 sterol desaturase
- Delta(7)-sterol 5-desaturase
- Lathosterol 5-desaturase
- Sterol-C5-desaturase
|
| Gene Name
| SC5DL |
| Protein Type
| Enzyme |
| Biological Properties |
| General Function
| Involved in iron ion binding |
| Specific Function
| Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol.
|
| GO Classification
|
| Biological Process |
| cholesterol biosynthetic process |
| cholesterol biosynthetic process via lathosterol |
| fatty acid biosynthetic process |
| Cellular Component |
| endoplasmic reticulum membrane |
| integral to membrane |
| Component |
| endoplasmic reticulum |
| organelle |
| membrane-bounded organelle |
| intracellular membrane-bounded organelle |
| Function |
| ion binding |
| cation binding |
| metal ion binding |
| binding |
| catalytic activity |
| transition metal ion binding |
| iron ion binding |
| oxidoreductase activity |
| Molecular Function |
| iron ion binding |
| C-5 sterol desaturase activity |
| lathosterol oxidase activity |
| Process |
| cellular metabolic process |
| organic acid metabolic process |
| oxoacid metabolic process |
| carboxylic acid metabolic process |
| monocarboxylic acid metabolic process |
| fatty acid metabolic process |
| fatty acid biosynthetic process |
| oxidation reduction |
| metabolic process |
|
| Cellular Location
|
- Endoplasmic reticulum membrane
- Multi-pass membrane protein (Probable)
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Steroid Biosynthesis |    |  | | Smith-Lemli-Opitz Syndrome (SLOS) |    | Not Available | | CHILD Syndrome |    | Not Available | | Desmosterolosis |    | Not Available | | Chondrodysplasia Punctata II, X Linked Dominant (CDPX2) |    | Not Available |
|
| Gene Properties |
| Chromosome Location
| 11 |
| Locus
| 11q23.3 |
| SNPs
| SC5DL |
| Gene Sequence
|
>900 bp
ATGGATCTTGTACTCCGTGTTGCAGATTACTATTTTTTTACACCATACGTGTATCCAGCC
ACATGGCCAGAAGATGACATCTTCCGACAAGCTATTAGTCTTCTGATTGTAACAAATGTT
GGTGCTTACATCCTTTATTTCTTCTGTGCAACACTGAGCTATTATTTTGTCTTCGATCAT
GCATTAATGAAACATCCACAATTTTTAAAGAATCAAGTCCGTCGAGAGATTAAGTTTACT
GTCCAGGCATTGCCATGGATAAGTATTCTTACTGTTGCACTGTTCTTGCTGGAGATAAGA
GGTTACAGCAAATTACATGATGACCTAGGAGAGTTTCCATATGGATTGTTTGAACTTGTC
GTTAGTATAATATCTTTCCTCTTTTTCACTGACATGTTCATCTACTGGATTCACAGAGGC
CTTCATCATAGACTGGTATATAAGCGCCTACATAAACCTCACCATATTTGGAAGATTCCT
ACTCCATTTGCAAGTCATGCTTTTCACCCTATTGATGGCTTTCTTCAGAGTCTACCTTAC
CATATATACCCTTTTATCTTTCCATTACACAAGGTGGTTTATTTAAGTCTGTACATCTTG
GTTAATATCTGGACAATTTCCATTCATGACGGTGATTTTCGTGTCCCCCAAATCTTACAG
CCATTTATTAATGGCTCAGCTCATCATACAGACCACCATATGTTCTTTGACTATAATTAT
GGACAATATTTCACTTTGTGGGATAGGATTGGCGGCTCATTCAAAAATCCTTCATCCTTT
GAGGGGAAGGGACCGCTCAGTTATGTGAAGGAGATGACAGAGGGAAAGCGCAGCAGCCCT
TCAGGAAATGGCTGTAAGAATGAAAAATTATTCAATGGAGAGTTTACAAAGACTGAATAG
|
| Protein Properties |
| Number of Residues
| 299 |
| Molecular Weight
| 35300.55 |
| Theoretical pI
| 8.074 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Lathosterol oxidase
MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDH
ALMKHPQFLKNQVRREIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELV
VSIISFLFFTDMFIYWIHRGLHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPY
HIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNY
GQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE
|
| External Links |
| GenBank ID Protein
| 3721882 |
| UniProtKB/Swiss-Prot ID
| O75845 |
| UniProtKB/Swiss-Prot Entry Name
| SC5D_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| AB016247 |
| GeneCard ID
| SC5DL |
| GenAtlas ID
| SC5DL |
| HGNC ID
| HGNC:10547 |
| References |
| General References
| Not Available |