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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 Vestibular Nystagmus. Among its related pathways are Metabolism and Immune System. GO annotations related to this gene include electron carrier 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).

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

Enhancers for DEGS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F224195 1 Ensembl ENCODE 11.4 +21.0 20953 1.9 ZNF202 ZNF362 ZNF384 TBX21 POLR2H ZFHX2 HNF4G ZBTB33 ZNF652 SP7 LOC101927143 CICP5 DEGS1 NVL CNIH4 PIR34911
GH01F224201 0.5 ENCODE 8.4 +26.0 25983 1.5 TEAD4 MAFG TEAD2 ZNF316 ZNF600 NFE2 WT1 EMSY LOC101927143 DEGS1 PIR34911
GH01F224212 1 Ensembl ENCODE 7.4 +37.7 37710 2.5 TBP HDAC1 PKNOX1 RFX5 GATA2 RCOR1 ZNF362 CEBPB ZEB2 ZFP69B LOC101927143 DEGS1 LOC101927164
GH01F224202 1.1 Ensembl ENCODE 6.9 +29.1 29145 4.2 PKNOX1 ARNT FEZF1 ZNF2 YY1 FOS KAT8 SMARCA4 GLIS1 NBN LOC101927143 DEGS1 PIR34911
GH01F224064 0.8 Ensembl ENCODE 6.9 -110.2 -110242 1.4 ZNF362 NR2F1 ZNF384 ZEB2 NR2F2 JUND ADNP ETV6 KLF8 PRDM1 LOC101927143 DEGS1 GTF2IP20 LOC105373061 GC01M224096
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DEGS1 on UCSC Golden Path with GeneCards custom track

Promoters for DEGS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001755227 44 401 CTCF SCRT2 ZBTB33 PRDM1 RAD21

Genomic Location for DEGS1 Gene

Chromosome:
1
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

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 Lys 29 and Lys 278
  • Modification sites at PhosphoSitePlus

Other Protein References for DEGS1 Gene

Antibody Products

  • Abcam antibodies for DEGS1

No data available for DME Specific Peptides for DEGS1 Gene

Domains & Families for DEGS1 Gene

Gene Families for DEGS1 Gene

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 carrier activity TAS 9188692
GO:0016491 oxidoreductase activity IEA --
GO:0042284 sphingolipid delta-4 desaturase activity IEA,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

  • Taconic Biosciences Mouse Models for DEGS1

miRNA for DEGS1 Gene

miRTarBase miRNAs that target DEGS1

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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
Jensen Localization Image for DEGS1 Gene COMPARTMENTS Subcellular localization image for DEGS1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
mitochondrion 4
extracellular 3
chloroplast 2
cytoskeleton 2
lysosome 2
vacuole 2
cytosol 1
endosome 1
nucleus 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 IEA,TAS 9188692
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 9188692
GO:0016020 membrane IEA,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:0030148 sphingolipid biosynthetic process IEA,TAS --
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:

Inhibitory RNA Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with DEGS1: view

Primer Products

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 34 35
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia DEGS1 34 35
  • 87.62 (n)
dog
(Canis familiaris)
Mammalia DEGS1 34 35
  • 86.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DEGS1 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Degs1 34 16 35
  • 83.18 (n)
9130409I23Rik 35
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DEGS1 35
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Degs1 34
  • 81.84 (n)
chicken
(Gallus gallus)
Aves DEGS1 34 35
  • 75.73 (n)
lizard
(Anolis carolinensis)
Reptilia DEGS1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia degs1 34
  • 73.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia degs-prov 34
zebrafish
(Danio rerio)
Actinopterygii degs1 34 35
  • 67.8 (n)
wufa25h01 34
fruit fly
(Drosophila melanogaster)
Insecta ifc 35
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ttm-5 35
  • 46 (a)
ManyToMany
F33D4.4 35
  • 44 (a)
ManyToMany
soybean
(Glycine max)
eudicotyledons Gma.5077 34
rice
(Oryza sativa)
Liliopsida Os.23411 34
corn
(Zea mays)
Liliopsida Zm.1495 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8632 34
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 Sequence Context AA Info Type
rs1060386 -- 224,192,776(-) GTGCC(C/T)GGCGA utr-variant-3-prime
rs1060394 -- 224,193,219(+) ATGGT(A/T)ACTTG utr-variant-3-prime
rs10916443 -- 224,184,500(+) TGTTT(G/T)TTTTT intron-variant
rs10916444 -- 224,184,503(+) TTGTT(G/T)TTTGT intron-variant
rs10916458 -- 224,192,622(+) AGTGA(A/G)TCTGG utr-variant-3-prime

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
vestibular nystagmus
  • nystagmus associated with disorder of the vestibular system
- elite association - COSMIC cancer census association via MalaCards
Search DEGS1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DEGS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.L. … Gill G.N. (Biochemistry 1997) 2 3 4 22 64
  2. Dihydroceramide desaturase activity is modulated by oxidative stress. (PMID: 20105137) Idkowiak-Baldys J. … Hannun Y.A. (Biochem. J. 2010) 2 3 22 64
  3. Involvement of dihydroceramide desaturase in cell cycle progression in human neuroblastoma cells. (PMID: 17283068) Kraveka J.M. … Bielawska A. (J. Biol. Chem. 2007) 3 22 64
  4. Identification and characterization of a sphingolipid delta 4- desaturase family. (PMID: 11937514) Ternes P. … Heinz E. (J. Biol. Chem. 2002) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for DEGS1 Gene

Sources for DEGS1 Gene

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