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DEGS1 (delta 4-desaturase, sphingolipid 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8560
Gene nameGene Name - the full gene name approved by the HGNC.
Delta 4-desaturase, sphingolipid 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DEGS1
SynonymsGene synonyms aliases
DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.11
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence
Sequence length 323
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway 		  Sphingolipid de novo biosynthesis
Neutrophil degranulation
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 31186544
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417 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
Unknown
Disease name Disease term dbSNP ID References
Brainstem atrophy Atrophy/Degeneration affecting the brainstem
Cerebellar atrophy Cerebellar atrophy
Dysarthria Dysarthria
Prostatic neoplasms Prostatic Neoplasms 17013881

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