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Aliases for DEGS1 Gene

Aliases for DEGS1 Gene

  • Delta 4-Desaturase, Sphingolipid 1 2 3 5
  • 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 1.14.19.17 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 Asbestos-Related Lung Carcinoma and Acute Dacryocystitis. Among its related pathways are Innate Immune System and Metabolism. Gene Ontology (GO) annotations related to this gene include electron transfer activity and sphingolipid delta-4 desaturase activity. 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).

Additional gene information for DEGS1 Gene

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

Genomics for DEGS1 Gene

GeneHancer (GH) Regulatory Elements for DEGS1 Gene

Promoters and enhancers for DEGS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I224181 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.4 +7.7 7732 4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 DEGS1 LOC101927143 WDR26 CICP5 ENSG00000201898 GC01P224191 PIR33615
GH01I224175 Promoter/Enhancer 1 Ensembl dbSUPER 550.8 +0.0 45 0.4 POLR2A ZBTB11 SCRT2 ZBTB33 PRDM1 DEGS1 LOC724084 GC01M224176 LOC101927143
GH01I224195 Enhancer 1 Ensembl ENCODE dbSUPER 11.5 +21.0 20953 1.9 ZNF362 RXRA ZNF384 ZNF404 ZFHX2 GATA3 HNF4G ZBTB33 HNF4A EGR2 LOC101927143 DEGS1 NVL CNIH4 PIR34911
GH01I224356 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 4.4 +181.7 181652 2.4 PKNOX1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 POLR2B ZNF766 CNIH4 NVL WDR26 CNIH3 LOC101927164 LOC101927143 CAPN2 DEGS1 FBXO28 GC01P224379
GH01I224202 Enhancer 1.4 Ensembl ENCODE dbSUPER 7 +29.1 29056 3.9 PKNOX1 ATF1 FOXA2 SMAD1 FEZF1 ZNF2 IRF4 ZNF48 ZNF121 GLIS2 LOC101927143 FBXO28 LOC100287497 CICP5 CNIH4 CAPN2 DEGS1 PIR34911
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DEGS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEGS1 gene promoter:

Genomic Locations for DEGS1 Gene

Genomic Locations for DEGS1 Gene
chr1:224,175,756-224,193,441
(GRCh38/hg38)
Size:
17,686 bases
Orientation:
Plus strand
chr1:224,363,458-224,381,143
(GRCh37/hg19)

Genomic View for DEGS1 Gene

Genes around DEGS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEGS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    Protein attributes for DEGS1 Gene

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

neXtProt entry for DEGS1 Gene

Post-translational modifications for DEGS1 Gene

  • Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.
  • Ubiquitination at posLast=2929 and Lys278

Other Protein References for DEGS1 Gene

No data available for DME Specific Peptides for DEGS1 Gene

Domains & Families for DEGS1 Gene

Gene Families for DEGS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for DEGS1 Gene

Suggested Antigen Peptide Sequences for DEGS1 Gene

Graphical View of Domain Structure for InterPro Entry

O15121

UniProtKB/Swiss-Prot:

DEGS1_HUMAN :
  • Belongs to the fatty acid desaturase type 1 family. DEGS subfamily.
Family:
  • Belongs to the fatty acid desaturase type 1 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 CatalyticActivity:
A dihydroceramide + 2 ferrocytochrome b5 + O(2) + 2 H(+) = a (4E)-sphing-4-enine ceramide + 2 ferricytochrome b5 + 2 H(2)O.
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 transfer activity TAS 9188692
GO:0016491 oxidoreductase activity IEA --
GO:0042284 sphingolipid delta-4 desaturase activity TAS --
genes like me logo Genes that share ontologies with DEGS1: view
genes like me logo Genes that share phenotypes with DEGS1: view

Animal Model Products

CRISPR Products

miRNA for DEGS1 Gene

miRTarBase miRNAs that target DEGS1

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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. Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEGS1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
endoplasmic reticulum 5
extracellular 3
cytoskeleton 2
peroxisome 2
nucleus 2
lysosome 2
cytosol 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DEGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005783 endoplasmic reticulum TAS 9188692
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9188692
genes like me logo Genes that share ontologies with DEGS1: view

Pathways & Interactions for DEGS1 Gene

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

Gene Ontology (GO) - Biological Process for DEGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006636 unsaturated fatty acid biosynthetic process TAS 9188692
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with DEGS1: view

No data available for SIGNOR curated interactions for DEGS1 Gene

Drugs & Compounds for DEGS1 Gene

(1) Drugs for DEGS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for DEGS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x7.1) and Skin - Not Sun Exposed (Suprapubic) (x6.6).

Protein differential expression in normal tissues from HIPED for DEGS1 Gene

This gene is overexpressed in Breast (35.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DEGS1 Gene



Protein tissue co-expression partners for DEGS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEGS1 Gene:

DEGS1

SOURCE GeneReport for Unigene cluster for DEGS1 Gene:

Hs.299878

mRNA Expression by UniProt/SwissProt for DEGS1 Gene:

O15121-DEGS1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for DEGS1 Gene

  • Lung(4.5)
  • Nervous system(4.2)
  • Skin(3.3)
  • Muscle(2.7)
  • Intestine(2.4)
  • Kidney(2.4)
  • Liver(2.4)
  • Blood(2.3)
  • Heart(2.3)
  • Spleen(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with DEGS1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DEGS1 Gene

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 33 34
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia DEGS1 33 34
  • 87.62 (n)
dog
(Canis familiaris)
Mammalia DEGS1 33 34
  • 86.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DEGS1 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Degs1 33 16 34
  • 83.18 (n)
9130409I23Rik 34
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DEGS1 34
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Degs1 33
  • 81.84 (n)
chicken
(Gallus gallus)
Aves DEGS1 33 34
  • 75.73 (n)
lizard
(Anolis carolinensis)
Reptilia DEGS1 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia degs1 33
  • 73.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia degs-prov 33
zebrafish
(Danio rerio)
Actinopterygii degs1 33 34
  • 67.8 (n)
wufa25h01 33
fruit fly
(Drosophila melanogaster)
Insecta ifc 34
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ttm-5 34
  • 46 (a)
ManyToMany
F33D4.4 34
  • 44 (a)
ManyToMany
soybean
(Glycine max)
eudicotyledons Gma.5077 33
rice
(Oryza sativa)
Liliopsida Os.23411 33
corn
(Zea mays)
Liliopsida Zm.1495 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8632 33
Species where no ortholog for DEGS1 was found in the sources mined by GeneCards:
  • 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

(2) 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 Variation AA Info Type
rs1000246865 -- 224,189,208(+) T/ intron_variant
rs1000268830 -- 224,183,902(+) C/T intron_variant
rs1000998578 -- 224,185,285(+) A/T intron_variant
rs1001284834 -- 224,188,827(+) C/A intron_variant
rs1001338742 -- 224,189,154(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv478999 CNV novel sequence insertion 20440878
nsv832692 CNV gain 17160897
nsv8857 CNV gain 18304495

Variation tolerance for DEGS1 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEGS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEGS1

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

Disorders for DEGS1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DEGS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
asbestos-related lung carcinoma
acute dacryocystitis
  • dacryocystitis - acute
vestibular nystagmus
  • nystagmus associated with disorder of the vestibular system
uterine corpus endometrial carcinoma
corneal dystrophy, subepithelial mucinous
  • smcd
- elite association - COSMIC cancer census association via MalaCards
Search DEGS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DEGS1

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

No data available for UniProtKB/Swiss-Prot and Genatlas 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 DL … Gill GN (Biochemistry 1997) 2 3 4 22 58
  2. Dihydroceramide desaturase activity is modulated by oxidative stress. (PMID: 20105137) Idkowiak-Baldys J … Hannun YA (The Biochemical journal 2010) 2 3 22 58
  3. Involvement of dihydroceramide desaturase in cell cycle progression in human neuroblastoma cells. (PMID: 17283068) Kraveka JM … Bielawska A (The Journal of biological chemistry 2007) 3 22 58
  4. Identification and characterization of a sphingolipid delta 4-desaturase family. (PMID: 11937514) Ternes P … Heinz E (The Journal of biological chemistry 2002) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for DEGS1 Gene

Sources for DEGS1 Gene

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