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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DEGS1 Gene

protein-coding   GIFtS: 53
GCID: GC01P224364

Delta(4)-Desaturase, Sphingolipid 1

(Previous names: degenerative spermatocyte homolog 1, lipid desaturase (Drosophila))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Delta(4)-Desaturase, Sphingolipid 11 2     Des-12
Dihydroceramide Desaturase 11 2     FADS72
Sphingolipid Delta(4)-Desaturase 11 2     Degenerative Spermatocyte Homolog 1, Lipid Desaturase2
Cell Migration-Inducing Gene 15 Protein2 3     Degenerative Spermatocyte Homolog, Lipid Desaturase2
Membrane Lipid Desaturase2 3     Membrane Fatty Acid (Lipid) Desaturase2
DES12 3     Migration-Inducing Gene 15 Protein2
MLD2 3     Sphingolipid Delta 4 Desaturase2
Degenerative Spermatocyte Homolog 1, Lipid Desaturase (Drosophila)1     Sphingolipid Delta(4)-Desaturase DES12
DEGS2     EC 1.14.-.-3
DEGS-12     Degenerative Spermatocyte Homolog 13

External Ids:    HGNC: 137091   Entrez Gene: 85602   Ensembl: ENSG000001437537   UniProtKB: O151213   

Export aliases for DEGS1 gene to outside databases

Previous GC identifers: GC01P220678 GC01P222437 GC01P194891


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 infertility, and neuroblastoma, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. 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: DEGS1_HUMAN, O15121
Function: Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine
(E-sphing-4-enine)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEGS1 gene promoter:
         Max1   ATF-2   FOXO3   AP-2gamma   RORalpha2   FOXO3b   AP-2beta   FOXO3a   ZIC2/Zic2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DEGS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEGS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEGS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q42.11   Ensembl cytogenetic band:  1q42.11   HGNC cytogenetic band: 1q42.11

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P224364:  view genomic region     (about GC identifiers)

Start:
224,363,458 bp from pter      End:
224,381,143 bp from pter
Size:
17,686 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DEGS1_HUMAN, O15121 (See protein sequence)
Recommended Name: Sphingolipid delta(4)-desaturase DES1  
Size: 323 amino acids; 37866 Da
Subcellular location: Mitochondrion. Endoplasmic reticulum membrane; Multi-pass membrane protein

Explore the universe of human proteins at neXtProt for DEGS1: NX_O15121

Explore proteomics data for DEGS1 at MOPED 

Post-translational modifications:

  • UniProtKB: Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15121

  • DEGS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DEGS1 Protein Expression
    REFSEQ proteins: NP_003667.1  
    ENSEMBL proteins: 
     ENSP00000400545   ENSP00000316476   ENSP00000375749  
    Reactome Protein details: O15121
    Human Recombinant Protein Products for DEGS1: 
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    Novus Biologicals DEGS1 Proteins
    Novus Biologicals DEGS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DEGS1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum TAS9188692
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005887integral to plasma membrane TAS9188692
    GO:0016020membrane TAS9188692

    DEGS1 for ontologies           About GeneDecksing



    DEGS1 Antibody Products: 
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    Assay Products for DEGS1: 
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    Cloud-Clone Corp. ELISAs for DEGS1 
    Cloud-Clone Corp. CLIAs for DEGS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FADS: Fatty acid desaturases

    3 InterPro protein domains:
     IPR013866 Sphingolipid_d4-desaturase_N
     IPR011388 Sphingolipid_d4-desaturase
     IPR005804 Fatty_acid_desaturase-1

    Graphical View of Domain Structure for InterPro Entry O15121

    ProtoNet protein and cluster: O15121

    UniProtKB/Swiss-Prot: DEGS1_HUMAN, O15121
    Similarity: Belongs to the fatty acid desaturase family. DEGS subfamily


    DEGS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DEGS1_HUMAN, O15121
    Function: Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine
    (E-sphing-4-enine)

         Enzyme Number (IUBMB): EC 1.14.-.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009055electron carrier activity TAS9188692
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA--
         
    DEGS1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DEGS1:
     G0/1 arrest  Increased G1 DNA content 

         1 MGI phenotypic allele for Degs1 (no phenotypes)

    DEGS1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DEGS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEGS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DEGS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DEGS1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DEGS1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate DEGS1:
    hsa-miR-3606
    SwitchGear 3'UTR luciferase reporter plasmidDEGS1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEGS1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DEGS1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Sphingolipid de novo biosynthesis0.47
    Sphingolipid metabolism0.63
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for DEGS1
        Sphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins
    Sphingolipid de novo biosynthesis


    2         Kegg Pathways  (Kegg details for DEGS1):
        Sphingolipid metabolism
    Metabolic pathways


    DEGS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEGS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/38 Interacting proteins for DEGS1 (O151211, 3 ENSP000003164764) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PYGMP112171, 3, ENSP000001641394EBI-1052713,EBI-357469 I2D: score=2 STRING: ENSP00000164139
    SURF4O152601, 3, ENSP000003610574EBI-1052713,EBI-1044848 I2D: score=2 STRING: ENSP00000361057
    TSSC1Q53HC91, 3, ENSP000003715594EBI-1052713,EBI-1055422 I2D: score=2 STRING: ENSP00000371559
    SLC16A1P539851, 3, ENSP000003586404EBI-1052713,EBI-1054708 I2D: score=2 STRING: ENSP00000358640
    MOB1AQ9H8S93, ENSP000003793644I2D: score=1 STRING: ENSP00000379364
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006633fatty acid biosynthetic process ----
    GO:0006636unsaturated fatty acid biosynthetic process TAS9188692
    GO:0006665sphingolipid metabolic process TAS--
    GO:0030148sphingolipid biosynthetic process TAS--

    DEGS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DEGS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DEGS1

    5 Novoseek inferred chemical compound relationships for DEGS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydroceramide 97.8 37 20105137 (5), 17283068 (4), 14682684 (4), 19394759 (3) (see all 13)
    ceramide 81 13 16532372 (1), 18002227 (1), 19609004 (1), 15371559 (1) (see all 9)
    n-(4-hydroxyphenyl)retinamide 70.5 1 16303764 (1)
    fatty acid 15 9 9188692 (5), 14690501 (1)
    lipid 0 1 9188692 (1)

    Search CenterWatch for drugs/clinical trials and news about DEGS1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DEGS1 gene (2 alternative transcripts): 
    NM_144780.1  NM_003676.3  

    Unigene Cluster for DEGS1:

    Delta(4)-desaturase, sphingolipid 1
    Hs.299878  [show with all ESTs]
    Unigene Representative Sequence: NM_003676
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000415210 ENST00000323699(uc001hoj.3) ENST00000465848 ENST00000498813
    ENST00000391877
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DEGS1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate DEGS1:
    hsa-miR-3606
    SwitchGear 3'UTR luciferase reporter plasmidDEGS1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene ORF clones in mouse, rat for DEGS1
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    GenScript: all cDNA clones in your preferred vector: DEGS1 (NM_003676)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DEGS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEGS1
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEGS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEGS1

    Additional mRNA sequence: 

    AF466375.1 AK308232.1 AY423730.1 BC000961.2 

    15 DOTS entries:

    DT.448126  DT.121643628  DT.92446266  DT.100742090  DT.100793488  DT.95273830  DT.100795095  DT.100793482 
    DT.121361227  DT.100793486  DT.86811136  DT.92039352  DT.99943904  DT.121361198  DT.121361217 

    24/229 AceView cDNA sequences (see all 229):

    CR614089 CA308765 AW778780 BU626943 AU131717 BQ925198 CR612716 BM466697 
    CR623303 AL547045 AA486501 BX483988 CR619224 BM849148 CA309321 BU190956 
    AF466375 BX343669 CR602386 BC000961 BU625232 BQ019992 CN485297 AA809857 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DEGS1    About this scheme

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


    ECgene alternative splicing isoforms for DEGS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DEGS1 expression in normal human tissues (normalized intensities)      DEGS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTCCCCAA
    DEGS1 Expression
    About this image


    DEGS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Podocytes Podocyte Layer
             Metanephros
     
     Pancreas (Endocrine System)
             visceral organ/gut/foregut-midgut junction   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See DEGS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DEGS1

    SOURCE GeneReport for Unigene cluster: Hs.299878

    UniProtKB/Swiss-Prot: DEGS1_HUMAN, O15121
    Tissue specificity: Ubiquitous

        SABiosciences Custom PCR Arrays for DEGS1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEGS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEGS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DEGS1 gene from 9/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Degs11 , 5 degenerative spermatocyte homolog 1 (Drosophila)1, 5 83.18(n)1
    85.45(a)1
      1 (84.93 cM)5
    132441  NM_007853.41  NP_031879.11 
     1822757725 
    chicken
    (Gallus gallus)
    Aves DEGS11 degenerative spermatocyte homolog 1, lipid desaturase more 75.73(n)
    82.81(a)
      421327  NM_001012565.1  NP_001012583.1 
    lizard
    (Anolis carolinensis)
    Reptilia DEGS16
    delta(4)-desaturase, sphingolipid 1
    79(a)
    1 ↔ 1
    1(252782246-252791792)
    African clawed frog
    (Xenopus laevis)
    Amphibia degs-prov2 degenerative spermatocyte homolog, lipid desaturase more 75.73(n)    BC054207.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa25h012 Danio rerio cDNA clone MGC63989 IMAGE6792520, complete more 76.07(n)    BC053183.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ifc6
    infertile crescent
    61(a)
    1 → many
    2L(5986348-5988854)
    worm
    (Caenorhabditis elegans)
    Secernentea F33D4.41 Protein F33D4.4 58.63(n)
    50.81(a)
      177548  NM_068855.3  NP_501256.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.50772 Transcribed sequence with moderate similarity to protein more 73.52(n)    BU761488.1 
    rice
    (Oryza sativa)
    Liliopsida Os.234112 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.4(n)    AK101968.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DEGS1 gene
    DEGS22  
    2 SIMAP similar genes for DEGS1 using alignment to 2 protein entries:     DEGS1_HUMAN (see all proteins):
    DEGS    DEGS2

    DEGS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DEGS1
    PGOHUM00000249600


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/240 SNPs in DEGS1 are shown (see all 240)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs724340761,2
    C--194893204(+) CGTTT-/ACAC  
      ACACAC
    ACACA
    1 -- int10--------
    rs115886031,2
    C,F,A,H--224368977(+) CAGCCA/CCGCAT 1 -- us2k1 tfbs36Minor allele frequency- C:0.26CSA WA NA EA 363
    rs1884588161,2
    --224369013(+) CCCTCA/GCTGGG 1 -- us2k10--------
    rs1917574151,2
    --224369120(+) CCTCTC/GTATTT 1 -- us2k10--------
    rs1409670241,2
    C--224369371(+) GCTCAA/GGTCAA 1 -- us2k10--------
    rs1452752661,2
    C--224369441(+) GTCTC-/AAAAAA 1 -- us2k10--------
    rs1122561131,2
    C,F--224369563(+) TTTTTA/CAACTA 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120
    rs1442521611,2
    C--224370132(+) AGATT-/TGTGTGT 1 -- us2k10--------
    rs1437209381,2
    --224370299(+) AGGAAC/GAGGTT 1 -- us2k10--------
    rs1467768251,2
    --224370427(+) AATAAG/TGGTGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DEGS1 (224363458 - 224381143 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DEGS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832692CNV Gain17160897
    nsv873223CNV Gain21882294
    nsv8857CNV Gain18304495

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    5 diseases for DEGS1:    About MalaCards
    infertility    neuroblastoma    hypoxia    gastric cancer
    neuronitis


    DEGS1 for disorders           About GeneDecksing


    Export disorders for DEGS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DEGS1 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with DEGS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The product of the MLD gene is a member of the membrane fatty acid desaturase family: overexpression of MLD inhibits EGF receptor biosynthesis. (PubMed id 9188692)1, 2, 3, 9 Cadena D.L.... Gill G.N. (1997)
    2. Dihydroceramide desaturase activity is modulated by o xidative stress. (PubMed id 20105137)1, 3, 9 Idkowiak-Baldys J....Hannun Y.A. (2010)
    3. Identification and characterization of a sphingolipid delta 4- desaturase family. (PubMed id 11937514)1, 2 Ternes P.... Heinz E. (2002)
    4. Involvement of dihydroceramide desaturase in cell cycle progression in human neuroblastoma cells. (PubMed id 17283068)1, 9 Kraveka J.M....Bielawska A. (2007)
    5. Dihydroceramide desaturase knockdown impacts sphingoli pids and apoptosis after photodamage in human head and neck squamous carcinoma c ells. (PubMed id 23267130)1 Breen P....Separovic D. (2013)
    6. Cell density-dependent reduction of dihydroceramide de saturase activity in neuroblastoma cells. (PubMed id 22377532)1 Spassieva S.D....Obeid L.M. (2012)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    9. Silencing of enzymes involved in ceramide biosynthesis causes distinct global alterations of lipid homeostasis and gene expression. (PubMed id 22628619)1 Ruangsiriluk W....Francone O.L. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8560 HGNC: 13709 AceView: DEGS Ensembl:ENSG00000143753 euGenes: HUgn8560
    ECgene: DEGS1 Kegg: 8560 H-InvDB: DEGS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DEGS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DEGS1 gene:
    Search GeneIP for patents involving DEGS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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