DEGS1
entrez
8560
canonical
uniprot
O15121
canonical
ensembl
ENSG00000143753
resolver
ensp
ENSP00000316476
resolver
enst
ENST00000323699
resolver
genesymbol
DEGS1
resolver
genesymbol_syn
DES1
resolver
genesymbol_syn
MLD
resolver
hgnc
HGNC:13709
resolver
uniprot_entry
DEGS1_HUMAN
resolver
amino_acid_sequence
MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDFVMDDTISPYSRMKRHQKGEMVLE
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 18 (HLD18) [MIM:618404]: An 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. {ECO:0000269|PubMed:30620337, ECO:0000269|PubMed:30620338, ECO:0000269|PubMed:31186544}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.19.17
uniprot
proteins
ec_number
5.2.1.-
uniprot
proteins
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). {ECO:0000250|UniProtKB:Q5F3C1, ECO:0000269|PubMed:11937514, ECO:0000269|PubMed:30620337, ECO:0000269|PubMed:30620338}.
uniprot
proteins
mass_dalton
37866
uniprot
proteins
post_translational_modification
PTM: Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels. {ECO:0000269|PubMed:19647031}.
uniprot
proteins
protein_family
DEGS subfamily
uniprot
proteins
protein_family
Fatty acid desaturase type 1 family
uniprot
proteins
pubmed
11937514
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19647031
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23143414
uniprot
proteins
pubmed
25255805
uniprot
proteins
pubmed
30620337
uniprot
proteins
pubmed
30620338
uniprot
proteins
pubmed
31186544
uniprot
proteins
pubmed
9188692
uniprot
proteins
sequence_length
323
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:19647031, ECO:0000269|PubMed:30620338}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:19647031, ECO:0000269|PubMed:30620338, ECO:0000269|PubMed:9188692}; Multi-pass membrane protein {ECO:0000269|PubMed:19647031, ECO:0000269|PubMed:9188692}.
uniprot
proteins
transmembrane_region
TRANSMEM 41..61; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 68..88; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 102..122; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 152..172; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 184..204; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 209..229; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins