• Gene id: 8560

Gene Summary

• Gene Symbol: DEGS1   Gene   UCSC   Ensembl
• Aliases: DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD
• Gene name: delta 4-desaturase, sphingolipid 1
• Alternate names: sphingolipid delta(4)-desaturase DES1, cell migration-inducing gene 15 protein, degenerative spermatocyte homolog 1, lipid desaturase, degenerative spermatocyte homolog, lipid desaturase, dihydroceramide desaturase 1, membrane fatty acid (lipid) desaturase, mem,
• Gene location: 1q42.11 (224183239: 224193440)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 615843

Protein Summary

• Protein general information: O15121  
  • Name: Sphingolipid delta(4) desaturase DES1 (EC 1.14.19.17) (Cell migration inducing gene 15 protein) (Degenerative spermatocyte homolog 1) (Membrane lipid desaturase)
  • Length: 323  
  • Mass: 37866
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYIVKDLDWKWVIFGAYA
  FGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPYSISFKRYHMDHHRYLGADGVDVDIPTDFEG
  WFFCTAFRKFIWVILQPLFYAFRPLFINPKPITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPI
  SGHFIAEHYMFLKGHETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDF
  VMDDTISPYSRMKRHQKGEMVLE

• Structural information:
  • Interpro: IPR011388  IPR005804  IPR013866  
  • CDD: cd03508
  • STRING: ENSP00000316476
• Other Databases: GeneCards:  DEGS1  Malacards:  DEGS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0042284	sphingolipid delta-4 desaturase activity	IBA	molecular function
GO:0050251	retinol isomerase activity	IDA	molecular function
GO:0042284	sphingolipid delta-4 desaturase activity	IMP	molecular function
GO:0042284	sphingolipid delta-4 desaturase activity	IMP	molecular function
GO:0043217	myelin maintenance	IMP	biological process
GO:0043217	myelin maintenance	IMP	biological process
GO:0042284	sphingolipid delta-4 desaturase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030148	sphingolipid biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0006636	unsaturated fatty acid biosynthetic process	TAS	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0042284	sphingolipid delta-4 desaturase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0009055	electron transfer activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04071	Sphingolipid signaling pathway
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881