O15121 · DEGS1_HUMAN
- ProteinSphingolipid delta(4)-desaturase DES1
- GeneDEGS1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids323 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (PubMed:11937514, PubMed:30620337, PubMed:30620338).
Catalyzes the equilibrium isomerization of retinols (By similarity).
Catalyzes the equilibrium isomerization of retinols (By similarity).
Catalytic activity
- an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H+ + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2OThis reaction proceeds in the forward direction.
- all-trans-retinol = 11-cis-retinolThis reaction proceeds in the forward and the backward directions.
- all-trans-retinol = 9-cis-retinolThis reaction proceeds in the forward direction.
- all-trans-retinol = 13-cis-retinolThis reaction proceeds in the forward direction.
- 11-cis-retinol = 13-cis-retinolThis reaction proceeds in the forward direction.
- 11-cis-retinol = 9-cis-retinolThis reaction proceeds in the forward direction.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | endoplasmic reticulum | |
Cellular Component | endoplasmic reticulum membrane | |
Cellular Component | membrane | |
Cellular Component | mitochondrial membrane | |
Cellular Component | mitochondrion | |
Cellular Component | plasma membrane | |
Cellular Component | specific granule membrane | |
Molecular Function | electron transfer activity | |
Molecular Function | retinol isomerase activity | |
Molecular Function | sphingolipid delta-4 desaturase activity | |
Biological Process | ceramide biosynthetic process | |
Biological Process | myelin maintenance | |
Biological Process | sphingolipid biosynthetic process | |
Biological Process | unsaturated fatty acid biosynthetic process |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Chemistry
Names & Taxonomy
Protein names
- Recommended nameSphingolipid delta(4)-desaturase DES1
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO15121
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Endoplasmic reticulum membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 41-61 | Helical | ||||
Sequence: PNLIWIIIMMVLTQLGAFYIV | ||||||
Transmembrane | 68-88 | Helical | ||||
Sequence: WVIFGAYAFGSCINHSMTLAI | ||||||
Transmembrane | 102-122 | Helical | ||||
Sequence: AMWNRWFGMFANLPIGIPYSI | ||||||
Transmembrane | 152-172 | Helical | ||||
Sequence: FFCTAFRKFIWVILQPLFYAF | ||||||
Transmembrane | 184-204 | Helical | ||||
Sequence: YLEVINTVAQVTFDILIYYFL | ||||||
Transmembrane | 209-229 | Helical | ||||
Sequence: LVYMLAASLLGLGLHPISGHF |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Leukodystrophy, hypomyelinating, 18 (HLD18)
- Note
- DescriptionAn autosomal recessive disorder characterized by hypomyelinating leukodystrophy with progressive atrophy of the corpus callosum, thalami and cerebellum, and peripheral neuropathy. Clinical features include very poor psychomotor development, dystonia, severe spasticity, seizures, and failure to thrive.
- See alsoMIM:618404
Natural variants in HLD18
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_082594 | 37 | M>T | in HLD18; uncertain significance; dbSNP:rs1388884067 | |
VAR_082595 | 107-323 | missing | in HLD18 | |
VAR_082596 | 113 | N>D | in HLD18; decreased function in sphingolipid biosynthetic process; dbSNP:rs1280845604 | |
VAR_082597 | 132 | H>R | in HLD18; uncertain significance; dbSNP:rs1558209997 | |
VAR_082598 | 133 | R>W | in HLD18; dbSNP:rs1367958450 | |
VAR_082599 | 173-323 | missing | in HLD18 | |
VAR_082600 | 189 | N>D | in HLD18; uncertain significance; dbSNP:rs771864122 | |
VAR_082601 | 255 | N>S | in HLD18; decreased function in sphingolipid biosynthetic process; dbSNP:rs768180196 | |
VAR_082602 | 280 | A>V | in HLD18; decreased function in sphingolipid biosynthetic process; reduced protein levels; increased protein degradation; dbSNP:rs1558211070 | |
VAR_082603 | 293-323 | missing | in HLD18; uncertain significance |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_082594 | 37 | in HLD18; uncertain significance; dbSNP:rs1388884067 | |||
Sequence: M → T | ||||||
Natural variant | VAR_082595 | 107-323 | in HLD18 | |||
Sequence: Missing | ||||||
Natural variant | VAR_082596 | 113 | in HLD18; decreased function in sphingolipid biosynthetic process; dbSNP:rs1280845604 | |||
Sequence: N → D | ||||||
Natural variant | VAR_082597 | 132 | in HLD18; uncertain significance; dbSNP:rs1558209997 | |||
Sequence: H → R | ||||||
Natural variant | VAR_082598 | 133 | in HLD18; dbSNP:rs1367958450 | |||
Sequence: R → W | ||||||
Natural variant | VAR_082599 | 173-323 | in HLD18 | |||
Sequence: Missing | ||||||
Natural variant | VAR_082600 | 189 | in HLD18; uncertain significance; dbSNP:rs771864122 | |||
Sequence: N → D | ||||||
Natural variant | VAR_082601 | 255 | in HLD18; decreased function in sphingolipid biosynthetic process; dbSNP:rs768180196 | |||
Sequence: N → S | ||||||
Natural variant | VAR_082602 | 280 | in HLD18; decreased function in sphingolipid biosynthetic process; reduced protein levels; increased protein degradation; dbSNP:rs1558211070 | |||
Sequence: A → V | ||||||
Natural variant | VAR_082603 | 293-323 | in HLD18; uncertain significance | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 320 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, lipidation, chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Initiator methionine | 1 | Removed | ||||
Sequence: M | ||||||
Lipidation | 2 | N-myristoyl glycine | ||||
Sequence: G | ||||||
Chain | PRO_0000312727 | 2-323 | Sphingolipid delta4-desaturase DES1 | |||
Sequence: GSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDFVMDDTISPYSRMKRHQKGEMVLE | ||||||
Modified residue | 307 | Phosphoserine | ||||
Sequence: S |
Post-translational modification
Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Ubiquitous.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with RLBP1; the interaction increases synthesis of chromophore-precursors by DEGS1.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O15121 | C4orf3 Q8WVX3-2 | 3 | EBI-1052713, EBI-12003442 | |
BINARY | O15121 | SEMA4G Q9NTN9-2 | 3 | EBI-1052713, EBI-12913124 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Motif | 89-93 | Histidine box-1 | ||||
Sequence: HEIAH | ||||||
Motif | 128-132 | Histidine box-2 | ||||
Sequence: HMDHH | ||||||
Motif | 259-263 | Histidine box-3 | ||||
Sequence: HNEHH |
Sequence similarities
Belongs to the fatty acid desaturase type 1 family. DEGS subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length323
- Mass (Da)37,866
- Last updated1998-01-01 v1
- Checksum9FF2E4A0B87EA71C
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
E7EMA0 | E7EMA0_HUMAN | DEGS1 | 261 |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF002668 EMBL· GenBank· DDBJ | AAB62238.1 EMBL· GenBank· DDBJ | mRNA | ||
AF466375 EMBL· GenBank· DDBJ | AAM12531.1 EMBL· GenBank· DDBJ | mRNA | ||
AY423730 EMBL· GenBank· DDBJ | AAS00493.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471098 EMBL· GenBank· DDBJ | EAW69711.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC000961 EMBL· GenBank· DDBJ | AAH00961.1 EMBL· GenBank· DDBJ | mRNA |