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DEGS1 Gene

protein-coding   GIFtS: 54
GCID: GC01P224364

Delta(4)-Desaturase, Sphingolipid 1

(Previous names: degenerative spermatocyte homolog 1, lipid desaturase (Drosophila))
  See DEGS1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_167186.2  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for DEGS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DEGS1_HUMAN, O15121 (See protein sequence)
Recommended Name: Sphingolipid delta(4)-desaturase DES1  
Size: 323 amino acids; 37866 Da

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

Explore proteomics data for DEGS1 at MOPED

Post-translational modifications: 

  • Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels1
  • Ubiquitination2 at Lys29, Lys278
  • Modification sites at PhosphoSitePlus

  • See DEGS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003667.1  
    ENSEMBL proteins: 
     ENSP00000400545   ENSP00000316476   ENSP00000375749  
    Reactome Protein details: O15121

    DEGS1 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for DEGS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with DEGS1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with DEGS1           About GenesLikeMe


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

         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Degs1):
     behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism  integument 
     liver/biliary system  mortality/aging  muscle  skeleton 

    Find genes that share phenotypes with DEGS1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DEGS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target DEGS1:
    hsa-mir-215-5p (MIRT024553), hsa-let-7a-5p (MIRT052511), hsa-mir-19b-3p (MIRT050636), hsa-mir-155-5p (MIRT020768), hsa-mir-34a-5p (MIRT047375), hsa-mir-192-5p (MIRT026493)

    Block miRNA regulation of human, mouse, rat DEGS1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DEGS1:
    hsa-miR-3606
    SwitchGear 3'UTR luciferase reporter plasmidDEGS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DEGS1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: DEGS1 (NM_003676)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEGS1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEGS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DEGS1_HUMAN, O15121: Mitochondrion. Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    plasma membrane4
    extracellular2
    cytoskeleton1
    cytosol1
    lysosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (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 component of plasma membrane TAS9188692
    GO:0016020membrane TAS9188692

    Find genes that share ontologies with DEGS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for DEGS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Sphingolipid de novo biosynthesis0.46
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38


    Find genes that share SuperPaths with DEGS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for DEGS1
        Sphingolipid de novo biosynthesis


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEGS1
    Interactions:

        Search GeneGlobe Interaction Network for DEGS1

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

    Selected Interacting proteins for DEGS1 (O151211, 3 ENSP000003164764) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    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): Selected biological process terms (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--

    Find genes that share ontologies with DEGS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with DEGS1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    1 qRT-PCR Assays for microRNA that regulate DEGS1:
    hsa-miR-3606
    SwitchGear 3'UTR luciferase reporter plasmidDEGS1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat DEGS1
      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 

    Selected AceView cDNA sequences (see all 229):

    AW778780 CR614089 AL547045 BQ019992 BM466697 BG286931 BQ925198 AF466375 
    BQ682964 BC000961 BM849148 BU625232 CA431515 N47820 CA431902 BF984409 
    CR623303 AU131717 BX343669 BU190956 CN485298 AA486501 BQ889257 BU626943 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DEGS1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     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
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    DEGS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DEGS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.299878

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

        Custom PCR Arrays for DEGS1
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DEGS1 gene from Selected 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 ttm-56
    F33D4.46
    Protein F33D4.4 (F33D4.4) mRNA, complete cds
    46(a)
    44(a)
    many ↔ many
    many ↔ many
    I(14688672-14691723) WBGene00013197
    IV(7703873-7706905) WBGene00017996
    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)
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    Paralogs for DEGS1 gene
    DEGS22  
    2 SIMAP similar genes for DEGS1 using alignment to 2 protein entries:     DEGS1_HUMAN (see all proteins):
    DEGS    DEGS2

    Find genes that share paralogs with DEGS1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DEGS1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DEGS1
    DNA2.0 Custom Variant and Variant Library Synthesis for DEGS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for DEGS1:    
    About MalaCards
    mantle cell lymphoma


    Find genes that share disorders with DEGS1           About GenesLikeMe


    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)
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    PubMed articles for DEGS1 gene, integrated from 10 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. (Biochemistry 1997)
    2. Dihydroceramide desaturase activity is modulated by oxidative stress. (PubMed id 20105137)1, 3, 9 Idkowiak-Baldys J....Hannun Y.A. (Biochem. J. 2010)
    3. Identification and characterization of a sphingolipid delta 4- desaturase family. (PubMed id 11937514)1, 2 Ternes P.... Heinz E. (J. Biol. Chem. 2002)
    4. Involvement of dihydroceramide desaturase in cell cycle progression in human neuroblastoma cells. (PubMed id 17283068)1, 9 Kraveka J.M....Bielawska A. (J. Biol. Chem. 2007)
    5. Dihydroceramide desaturase knockdown impacts sphingolipids and apoptosis after photodamage in human head and neck squamous carcinoma cells. (PubMed id 23267130)1 Breen P....Separovic D. (Anticancer Res. 2013)
    6. Cell density-dependent reduction of dihydroceramide desaturase activity in neuroblastoma cells. (PubMed id 22377532)1 Spassieva S.D....Obeid L.M. (J. Lipid Res. 2012)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 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. (J. Cell. Sci. 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. (J. Lipid Res. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8560 HGNC: 13709 AceView: DEGS Ensembl:ENSG00000143753 euGenes: HUgn8560
    ECgene: DEGS1 Kegg: 8560 H-InvDB: DEGS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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