| Identification |
|---|
| HMDB Protein ID
| CDBP02632 |
| Secondary Accession Numbers
| Not Available |
| Name
| Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 |
| Description
| Not Available |
| Synonyms
|
- Degenerative spermatocyte homolog 2
|
| Gene Name
| DEGS2 |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in oxidoreductase activity |
| Specific Function
| Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase |
| GO Classification
|
| Component |
| membrane part |
| intrinsic to membrane |
| integral to membrane |
| cell part |
| Function |
| catalytic activity |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen |
| oxidoreductase activity |
| Process |
| lipid metabolic process |
| metabolic process |
| primary metabolic 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 |
|
| Cellular Location
|
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Sphingolipid Metabolism |    |  | | Gaucher Disease |    | Not Available | | Globoid Cell Leukodystrophy |    | Not Available | | Metachromatic Leukodystrophy (MLD) |    | Not Available | | Fabry disease |    | Not Available |
|
| Gene Properties |
|---|
| Chromosome Location
| Chromosome:1 |
| Locus
| 14q32.2 |
| SNPs
| DEGS2 |
| Gene Sequence
|
>972 bp
ATGGGCAACAGCGCGAGCCGCAGCGACTTCGAGTGGGTCTACACCGACCAGCCGCACACG
CAGCGGCGCAAGGAGATACTGGCCAAGTACCCGGCCATCAAGGCCCTGATGCGGCCAGAC
CCGCGCCTCAAGTGGGCGGTGCTGGTGCTGGTGCTGGTGCAGATGCTGGCCTGCTGGCTG
GTGCGCGGGCTGGCCTGGCGCTGGCTGCTGTTCTGGGCCTACGCCTTTGGTGGCTGCGTG
AACCACTCGCTGACGCTGGCCATCCACGACATCTCGCACAACGCGGCCTTCGGCACGGGC
CGTGCGGCACGCAACCGCTGGCTGGCCGTGTTCGCCAACCTGCCCGTGGGTGTGCCCTAC
GCCGCCTCCTTCAAGAAGTACCACGTGGACCACCACCGCTACCTGGGCGGCGACGGGCTG
GACGTGGACGTGCCCACGCGTCTGGAGGGCTGGTTCTTCTGCACACCCGCCCGCAAGCTG
CTCTGGCTGGTGCTGCAGCCCTTCTTCTACTCACTACGGCCGCTCTGCGTCCACCCCAAG
GCCGTGACCCGCATGGAGGTGCTCAACACGCTGGTGCAGCTGGCGGCCGACCTGGCCATC
TTTGCCCTTTGGGGGCTCAAGCCCGTGGTCTACCTGCTGGCCAGCTCCTTCCTGGGCCTG
GGCCTGCACCCCATCTCGGGCCACTTCGTGGCCGAGCACTACATGTTCCTCAAGGGCCAC
GAGACCTACTCCTACTATGGGCCTCTCAACTGGATCACCTTCAATGTGGGCTACCACGTG
GAGCACCACGACTTCCCCAGCATCCCGGGCTACAACCTGCCGCTGGTGCGGAAGATCGCG
CCCGAGTACTACGACCACCTGCCGCAGCACCACTCCTGGGTGAAGGTGCTCTGGGATTTT
GTGTTTGAGGACTCCCTGGGGCCCTATGCCAGGGTGAAGCGGGTGTACAGGCTGGCAAAA
GATGGTCTGTGA
|
| Protein Properties |
|---|
| Number of Residues
| 323 |
| Molecular Weight
| 37197.0 |
| Theoretical pI
| 9.62 |
| Pfam Domain Function
|
|
| Signals
|
|
|
Transmembrane Regions
|
- ["45-65", "68-88", "210-231"]
|
| Protein Sequence
|
>Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2
MGNSASRSDFEWVYTDQPHTQRRKEILAKYPAIKALMRPDPRLKWAVLVLVLVQMLACWL
VRGLAWRWLLFWAYAFGGCVNHSLTLAIHDISHNAAFGTGRAARNRWLAVFANLPVGVPY
AASFKKYHVDHHRYLGGDGLDVDVPTRLEGWFFCTPARKLLWLVLQPFFYSLRPLCVHPK
AVTRMEVLNTLVQLAADLAIFALWGLKPVVYLLASSFLGLGLHPISGHFVAEHYMFLKGH
ETYSYYGPLNWITFNVGYHVEHHDFPSIPGYNLPLVRKIAPEYYDHLPQHHSWVKVLWDF
VFEDSLGPYARVKRVYRLAKDGL
|
| External Links |
|---|
| GenBank ID Protein
| 207113139 |
| UniProtKB/Swiss-Prot ID
| Q6QHC5 |
| UniProtKB/Swiss-Prot Entry Name
| DEGS2_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| NM_206918.2 |
| GeneCard ID
| DEGS2 |
| GenAtlas ID
| DEGS2 |
| HGNC ID
| HGNC:20113 |
| References |
|---|
| General References
| Not Available |