Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8560
Gene name Gene Name - the full gene name approved by the HGNC.
Delta 4-desaturase, sphingolipid 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DEGS1
Synonyms (NCBI Gene) Gene synonyms aliases
DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HLD18, MLD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs768180196 A>G Pathogenic Missense variant, coding sequence variant
rs932183417 C>A,T Likely-pathogenic Coding sequence variant, synonymous variant, stop gained
rs1280845604 A>C,G Likely-pathogenic Coding sequence variant, missense variant
rs1367958450 C>T Likely-pathogenic Missense variant, coding sequence variant
rs1382083552 G>A Likely-pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020768 hsa-miR-155-5p Proteomics 18668040
MIRT024553 hsa-miR-215-5p Microarray 19074876
MIRT024553 hsa-miR-215-5p Microarray 19074876
MIRT026493 hsa-miR-192-5p Microarray 19074876
MIRT052511 hsa-let-7a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion IDA
GO:0005783 Component Endoplasmic reticulum TAS 9188692
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615843 13709 ENSG00000143753
Protein
UniProt ID O15121
Protein name Sphingolipid delta(4)-desaturase DES1 (EC 1.14.19.17) (Cell migration-inducing gene 15 protein) (Degenerative spermatocyte homolog 1) (Dihydroceramide desaturase-1) (Membrane lipid desaturase) (Retinol isomerase) (EC 5.2.1.-)
Protein 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). {E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08557 Lipid_DES 6 42 Sphingolipid Delta4-desaturase (DES) Domain
PF00487 FA_desaturase 64 293 Fatty acid desaturase Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9188692}.
Sequence
Sequence length 323
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
  Sphingolipid de novo biosynthesis
Neutrophil degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
31186544
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604
View all (6 more)
31186544
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17013881
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 35560527
Breast Neoplasms Associate 37122728
Carcinoma Hepatocellular Associate 39447728
Coronary Artery Disease Associate 37298446
Demyelinating Diseases Associate 30620338
Developmental Disabilities Associate 37890668
Epilepsy Associate 34555062, 37890668
Heart Valve Diseases Associate 37298446
Heredodegenerative Disorders Nervous System Associate 31186544
Hypoxia Associate 34332565