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Aliases for DEGS1 Gene

Aliases for DEGS1 Gene

  • Delta(4)-Desaturase, Sphingolipid 1 2 3
  • Cell Migration-Inducing Gene 15 Protein 3 4
  • Sphingolipid Delta(4)-Desaturase 1 2 3
  • Dihydroceramide Desaturase 1 2 3
  • Membrane Lipid Desaturase 3 4
  • DES1 3 4
  • MLD 3 4
  • Degenerative Spermatocyte Homolog 1, Lipid Desaturase (Drosophila) 2
  • Degenerative Spermatocyte Homolog 1, Lipid Desaturase 3
  • Degenerative Spermatocyte Homolog, Lipid Desaturase 3
  • Membrane Fatty Acid (Lipid) Desaturase 3
  • Sphingolipid Delta(4)-Desaturase DES1 3
  • Degenerative Spermatocyte Homolog 1 4
  • Migration-Inducing Gene 15 Protein 3
  • Sphingolipid Delta 4 Desaturase 3
  • EC 1.14.-.- 4
  • DEGS-1 3
  • Des-1 3
  • FADS7 3
  • MIG15 3
  • DEGS 3

External Ids for DEGS1 Gene

Previous GeneCards Identifiers for DEGS1 Gene

  • GC01P220678
  • GC01P222437
  • GC01P224364
  • GC01P194891

Summaries for DEGS1 Gene

Entrez Gene Summary for DEGS1 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 of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]

GeneCards Summary for DEGS1 Gene

DEGS1 (Delta(4)-Desaturase, Sphingolipid 1) is a Protein Coding gene. Diseases associated with DEGS1 include mantle cell lymphoma. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include electron carrier activity and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is DEGS2.

UniProtKB/Swiss-Prot for DEGS1 Gene

  • Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEGS1 Gene

Genomics for DEGS1 Gene

Regulatory Elements for DEGS1 Gene

Genomic Location for DEGS1 Gene

Start:
224,175,756 bp from pter
End:
224,193,441 bp from pter
Size:
17,686 bases
Orientation:
Plus strand

Genomic View for DEGS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DEGS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEGS1 Gene

Proteins for DEGS1 Gene

  • Protein details for DEGS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15121-DEGS1_HUMAN
    Recommended name:
    Sphingolipid delta(4)-desaturase DES1
    Protein Accession:
    O15121
    Secondary Accessions:

    Protein attributes for DEGS1 Gene

    Size:
    323 amino acids
    Molecular mass:
    37866 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEGS1 Gene

Proteomics data for DEGS1 Gene at MOPED

Post-translational modifications for DEGS1 Gene

  • Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.
  • Ubiquitination at Lys29 and Lys278
  • Modification sites at PhosphoSitePlus

Other Protein References for DEGS1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEGS1 Gene

Domains for DEGS1 Gene

Gene Families for DEGS1 Gene

HGNC:
  • FADS :Fatty acid desaturases

Protein Domains for DEGS1 Gene

Suggested Antigen Peptide Sequences for DEGS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15121

UniProtKB/Swiss-Prot:

DEGS1_HUMAN :
  • O15121
Family:
  • Belongs to the fatty acid desaturase family. DEGS subfamily.
genes like me logo Genes that share domains with DEGS1: view

Function for DEGS1 Gene

Molecular function for DEGS1 Gene

UniProtKB/Swiss-Prot Function: Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine).

Enzyme Numbers (IUBMB) for DEGS1 Gene

Gene Ontology (GO) - Molecular Function for DEGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009055 electron carrier activity TAS 9188692
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0042284 sphingolipid delta-4 desaturase activity IEA --
genes like me logo Genes that share ontologies with DEGS1: view
genes like me logo Genes that share phenotypes with DEGS1: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for DEGS1 Gene

Localization for DEGS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEGS1 Gene

Mitochondrion. Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEGS1 Gene COMPARTMENTS Subcellular localization image for DEGS1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
plasma membrane 4
extracellular 2
cytoskeleton 1
cytosol 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DEGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum TAS 9188692
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9188692
GO:0016020 membrane TAS 9188692
genes like me logo Genes that share ontologies with DEGS1: view

Pathways for DEGS1 Gene

genes like me logo Genes that share pathways with DEGS1: view

Pathways by source for DEGS1 Gene

Gene Ontology (GO) - Biological Process for DEGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process --
GO:0006636 unsaturated fatty acid biosynthetic process TAS 9188692
GO:0006665 sphingolipid metabolic process TAS --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with DEGS1: view

Compounds for DEGS1 Gene

(5) Novoseek inferred chemical compound relationships for DEGS1 Gene

Compound -log(P) Hits PubMed IDs
dihydroceramide 97.8 29
ceramide 81 9
n-(4-hydroxyphenyl)retinamide 70.5 1
fatty acid 15 6
lipid 0 1
genes like me logo Genes that share compounds with DEGS1: view

Transcripts for DEGS1 Gene

Unigene Clusters for DEGS1 Gene

Delta(4)-desaturase, sphingolipid 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DEGS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2:
SP3: - - - -
SP4:

Relevant External Links for DEGS1 Gene

GeneLoc Exon Structure for
DEGS1
ECgene alternative splicing isoforms for
DEGS1

Expression for DEGS1 Gene

mRNA expression in normal human tissues for DEGS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEGS1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (7.1) and Skin - Not Sun Exposed (Suprapubic) (6.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DEGS1 Gene

SOURCE GeneReport for Unigene cluster for DEGS1 Gene Hs.299878

mRNA Expression by UniProt/SwissProt for DEGS1 Gene

O15121-DEGS1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with DEGS1: view

Orthologs for DEGS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DEGS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEGS1 35
  • 99.59 (n)
  • 99.69 (a)
DEGS1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DEGS1 35
  • 87.62 (n)
  • 89.16 (a)
DEGS1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DEGS1 35
  • 86.27 (n)
  • 89.7 (a)
DEGS1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 9130409I23Rik 36
  • 73 (a)
OneToMany
Degs1 35
  • 83.18 (n)
  • 85.45 (a)
Degs1 16
Degs1 36
  • 85 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DEGS1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DEGS1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Degs1 35
  • 81.84 (n)
  • 85.45 (a)
chicken
(Gallus gallus)
Aves DEGS1 35
  • 75.73 (n)
  • 82.81 (a)
DEGS1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DEGS1 36
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia degs-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia degs1 35
  • 73.37 (n)
  • 80.8 (a)
zebrafish
(Danio rerio)
Actinopterygii degs1 35
  • 67.8 (n)
  • 73.99 (a)
degs1 36
  • 68 (a)
OneToOne
wufa25h01 35
fruit fly
(Drosophila melanogaster)
Insecta ifc 36
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F33D4.4 36
  • 44 (a)
ManyToMany
ttm-5 36
  • 46 (a)
ManyToMany
soybean
(Glycine max)
eudicotyledons Gma.5077 35
corn
(Zea mays)
Liliopsida Zm.1495 35
rice
(Oryza sativa)
Liliopsida Os.23411 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8632 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToMany
Species with no ortholog for DEGS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DEGS1 Gene

ENSEMBL:
Gene Tree for DEGS1 (if available)
TreeFam:
Gene Tree for DEGS1 (if available)

Paralogs for DEGS1 Gene

Paralogs for DEGS1 Gene

Selected SIMAP similar genes for DEGS1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for DEGS1 Gene

genes like me logo Genes that share paralogs with DEGS1: view

Variants for DEGS1 Gene

Sequence variations from dbSNP and Humsavar for DEGS1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs908802 -- 224,193,548(-) ACCAA(C/T)GATCT downstream-variant-500B
rs908803 -- 224,193,405(-) TTTAT(A/G)AGTAA utr-variant-3-prime
rs908804 -- 224,192,532(-) AAAAA(C/T)TCCAT utr-variant-3-prime
rs1060386 -- 224,192,776(-) GTGCC(C/T)GGCGA utr-variant-3-prime
rs1060394 -- 224,193,219(+) ATGGT(A/T)ACTTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DEGS1 Gene

Variant ID Type Subtype PubMed ID
nsv832692 CNV Gain 17160897
nsv8857 CNV Gain 18304495
nsv873223 CNV Gain 21882294

Relevant External Links for DEGS1 Gene

HapMap Linkage Disequilibrium report
DEGS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEGS1 Gene

Disorders for DEGS1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for DEGS1 Gene including...

Search for DEGS1 Gene in MalaCards »
genes like me logo Genes that share disorders with DEGS1: view

No data available for UniProtKB/Swiss-Prot for DEGS1 Gene

Publications for DEGS1 Gene

  1. The product of the MLD gene is a member of the membrane fatty acid desaturase family: overexpression of MLD inhibits EGF receptor biosynthesis. (PMID: 9188692) Cadena D.L. … Gill G.N. (Biochemistry 1997) 2 3 4 23
  2. Dihydroceramide desaturase activity is modulated by oxidative stress. (PMID: 20105137) Idkowiak-Baldys J. … Hannun Y.A. (Biochem. J. 2010) 2 3 23
  3. Identification and characterization of a sphingolipid delta 4- desaturase family. (PMID: 11937514) Ternes P. … Heinz E. (J. Biol. Chem. 2002) 3 4
  4. Involvement of dihydroceramide desaturase in cell cycle progression in human neuroblastoma cells. (PMID: 17283068) Kraveka J.M. … Bielawska A. (J. Biol. Chem. 2007) 3 23
  5. Computational modeling of a metabolic pathway in ceramide de novo synthesis. (PMID: 18002227) Dhingra S. … Wang M.D. (Conf Proc IEEE Eng Med Biol Soc 2007) 23

Products for DEGS1 Gene

Sources for DEGS1 Gene

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