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SC5D Gene

protein-coding   GIFtS: 48
GCID: GC11P121163

Sterol-C5-Desaturase

(Previous names: sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like,...)
(Previous symbol: SC5DL)
  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)
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Aliases
sterol-C5-desaturase1 2     ERG32 5
Sterol-C5-desaturase3     Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, Fungal)-Like1
SC5DL1 2 3 5     Sterol-C5-Desaturase (Fungal ERG3, Delta-5-Desaturase)-Like1
Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, S. Cerevisiae)-Like1 2     3beta-hydroxysteroid-delta5-desaturase2
Lathosterol Oxidase1 2     S5DES2
Delta(7)-Sterol 5-Desaturase2 3     Fungal ERG3, Delta-5-Desaturase-Like2
Lathosterol 5-Desaturase2 3     Lathosterol Dehydrogenase2
C-5 Sterol Desaturase2 3     EC 1.14.21.63

External Ids:    HGNC: 105471   Entrez Gene: 63092   Ensembl: ENSG000001099297   OMIM: 6022865   UniProtKB: O758453   

Export aliases for SC5D gene to outside databases


(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 SC5D Gene:
This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of
lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis.
Alternatively spliced transcript variants encoding the same protein have been described. (provided by RefSeq, Jul
2008)

GeneCards Summary for SC5D Gene:
SC5D (sterol-C5-desaturase) is a protein-coding gene. Diseases associated with SC5D include lathosterolosis, and mental retardation. GO annotations related to this gene include lathosterol oxidase activity and iron ion binding.

UniProtKB/Swiss-Prot: SC5D_HUMAN, O75845
Function: Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol

Gene Wiki entry for SC5D (Sterol-C5-desaturase-like) Gene


(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:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SC5D
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SC5D promoter sequence
   Search Chromatin IP Primers for SC5D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SC5D


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

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

SC5D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SC5D gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P121163:  view genomic region     (about GC identifiers)

Start:
121,163,162 bp from pter      End:
121,184,119 bp from pter
Size:
20,958 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, 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., 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: SC5D_HUMAN, O75845 (See protein sequence)
Recommended Name: Lathosterol oxidase  
Size: 299 amino acids; 35301 Da
Cofactor: Iron (By similarity)
Secondary accessions: O00119 Q6GTM5 Q9UK15

Explore the universe of human proteins at neXtProt for SC5D: NX_O75845

Explore proteomics data for SC5D at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys255, Lys263, Lys297
  • Modification sites at PhosphoSitePlus

  • See SC5D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001020127.1  NP_008849.2  

    ENSEMBL proteins: 
     ENSP00000264027   ENSP00000436290   ENSP00000432550   ENSP00000376539  
    Reactome Protein details: O75845

    SC5D Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FATHD: Fatty acid hydroxylase domain containing

    1 InterPro protein domain:
     IPR006694 Fatty_acid_hydroxylase

    Graphical View of Domain Structure for InterPro Entry O75845

    ProtoNet protein and cluster: O75845

    1 Blocks protein domain: IPB006088 Sterol desaturase

    UniProtKB/Swiss-Prot: SC5D_HUMAN, O75845
    Domain: The histidine box domains may contain the active site and/or be involved in metal ion binding
    Similarity: Belongs to the sterol desaturase family


    SC5D 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC5D_HUMAN, O75845
    Function: Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol
    Catalytic activity: 5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O(2) = cholesta-5,7-dien-3-beta-ol + NAD(P)(+) + 2
    H(2)O

         Enzyme Number (IUBMB): EC 1.14.21.61

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000248C-5 sterol desaturase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0016491oxidoreductase activity ----
    GO:0050046lathosterol oxidase activity IEA--
         
    SC5D for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SC5D:
     Decreased Salmonella enterica  

         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sc5d):
     adipose tissue  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  integument  limbs/digits/tail  liver/biliary system 
     mortality/aging  respiratory system  skeleton 

    SC5D for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sc5dtm1Fdp for SC5D

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SC5D
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SC5D

    miRNA
    Products:
        
    miRTarBase miRNAs that target SC5D:
    hsa-mir-93-3p (MIRT038773), hsa-mir-335-5p (MIRT018994), hsa-let-7b-5p (MIRT052122), hsa-mir-124-3p (MIRT023105)

    Block miRNA regulation of human, mouse, rat SC5D using miScript Target Protectors
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SC5D


    (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
    SC5D_HUMAN, O75845: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    SC5D for ontologies           About GeneDecksing


    (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 SC5D About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    Steroid biosynthesis0.57
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.00
    Cholesterol biosynthesis0.62
    cholesterol biosynthesis III (via desmosterol)0.00
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    Activation of Gene Expression by SREBP (SREBF)0.75

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for SC5D
        Cholesterol biosynthesis
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
    cholesterol biosynthesis III (via desmosterol)


    2 Reactome Pathways for SC5D
        Cholesterol biosynthesis
    Activation of gene expression by SREBF (SREBP)


    2 Kegg Pathways  (Kegg details for SC5D):
        Steroid biosynthesis
    Metabolic pathways


    SC5D for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SC5D
    Interactions:

        Search GeneGlobe Interaction Network for SC5D

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

    Selected Interacting proteins for SC5D (O758453 ENSP000002640274) via UniProtKB, MINT, STRING, and/or I2D (see all 207)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43, ENSP000003726974I2D: score=1 STRING: ENSP00000372697
    ENSG00000224455Q8N1B43, ENSP000004040164I2D: score=1 STRING: ENSP00000404016
    ENSG00000225590Q8N1B43, ENSP000003911974I2D: score=1 STRING: ENSP00000391197
    ENSG00000228425Q8N1B43, ENSP000003908314I2D: score=1 STRING: ENSP00000390831
    ENSG00000236014Q8N1B43, ENSP000004069884I2D: score=1 STRING: ENSP00000406988
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS8976377
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0033490cholesterol biosynthetic process via lathosterol IEA--
    GO:0044281small molecule metabolic process TAS--

    SC5D for ontologies           About GeneDecksing



    (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 SC5D

    6 Novoseek inferred chemical compound relationships for SC5D gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lathosterol 92.4 21 12812989 (5), 18164739 (4), 9056262 (2), 10786622 (1) (see all 6)
    7-dehydrocholesterol 85.5 3 11731337 (1), 12812989 (1)
    sterol 73.3 2 10786622 (1)
    squalene 63.7 2 12860252 (1)
    anti-fungal 49.7 1 8978840 (1)
    cholesterol 41.4 11 12812989 (4), 11731337 (3), 10786622 (1), 12189593 (1)



    SC5D for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SC5D gene (2 alternative transcripts): 
    NM_001024956.2  NM_006918.4  

    Unigene Cluster for SC5D:

    Sterol-C5-desaturase
    Hs.287749  [show with all ESTs]
    Unigene Representative Sequence: NM_001024956
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264027(uc001pxt.3 uc001pxu.3) ENST00000534455 ENST00000531140
    ENST00000524683(uc001pxs.1) ENST00000527762 ENST00000534230 ENST00000392789(uc001pxv.3)
    ENST00000528991 ENST00000527183
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    Additional mRNA sequence: 

    AF069469.1 AF187981.1 AK027246.1 AK222686.1 AK223141.1 AK312634.1 BC012333.1 BC050427.1 

    13 DOTS entries:

    DT.87045635  DT.95329074  DT.100795276  DT.120689356  DT.95329066  DT.95329070  DT.92471906  DT.100795280 
    DT.100795278  DT.120689362  DT.120689373  DT.100000910  DT.95329072 

    Selected AceView cDNA sequences (see all 315):

    BM721058 BF792424 AU130431 AU279415 BI494086 N91268 AA639446 BQ719885 
    AI762851 BM313833 AW450658 AK027246 AA232501 AA515887 BE049591 AW020609 
    AI479481 AA281620 AV646235 AA868151 AI474645 BC012333 BX495986 BQ922679 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SC5D    About this scheme

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


    ECgene alternative splicing isoforms for SC5D

    (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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    SC5D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SC5D Expression
    About this image

    SC5D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SC5D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.287749
        Custom PCR Arrays for SC5D
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SC5D

    (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 SC5D gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sc5d1 , 5 sterol-C5-desaturase (fungal ERG3, delta-5-desaturase) more1, 5 80.82(n)1
    83.61(a)1
      9 (23.57 cM)5
    2352931  NM_172769.21  NP_766357.11 
     422541775 
    chicken
    (Gallus gallus)
    Aves SC5DL1 sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, more 64.47(n)
    67.71(a)
      100857756  XM_003642589.2  XP_003642637.2 
    lizard
    (Anolis carolinensis)
    Reptilia SC5D6
    sterol-C5-desaturase
    66(a)
    1 ↔ 1
    LGa(2220704-2231450)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004908451 lathosterol oxidase-like 68.05(n)
    67.59(a)
      100490845  XM_002941638.2  XP_002941684.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sc5d1 sterol-C5-desaturase 66.22(n)
    67.89(a)
      447891  NM_001004630.1  NP_001004630.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG3(YLR056W)4
    ERG31
    C-5 sterol desaturase, catalyzes the introduction of more4
    ERG31
    52.54(n)1
    47.21(a)1
      12(253861-254958)4
    8507451, 4  NP_013157.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G025901 AT3G02590 53.22(n)
    38.12(a)
      820687  NM_111127.1  NP_186908.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01345001 Os01g0134500 46.25(n)
    29.17(a)
      4325687  NM_001048479.1  NP_001041944.1 


    ENSEMBL Gene Tree for SC5D (if available)
    TreeFam Gene Tree for SC5D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 SC5D (see all 403)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0144234
    Lathosterolosis (LATHST)4--see VAR_0144232 R Q mis40--------
    VAR_0208294
    Lathosterolosis (LATHST)4--see VAR_0208292 Y S mis40--------
    VAR_0144244
    Lathosterolosis (LATHST)4--see VAR_0144242 G D mis40--------
    rs1048942951,2
    Cpathogenic1121040677(+) CTTCCA/GACAAG 4 Q R mis10--------
    rs1048942971,2
    Cpathogenic1121040728(+) CCTTTA/CTTTCT 4 Y S mis10--------
    rs1048942961,2
    Cpathogenic1121044460(+) TGACGA/GTGATT 4 D G mis10--------
    rs71191721,2
    C--121027932(+) GCAAAC/TAATGA 1 -- us2k1 tfbs32Minor allele frequency- T:0.00NA 4
    rs71190761,2
    C--121027933(+) CAAACA/GATGAA 1 -- us2k1 tfbs32Minor allele frequency- G:0.00NA 4
    rs1823009711,2
    --121028009(+) AGGATA/GTGCTA 1 -- us2k10--------
    rs1115934571,2
    C,F--121028100(+) AAGCCG/AGAAGC 2 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for SC5D (121163162 - 121184119 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SC5D: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SC5D
    DNA2.0 Custom Variant and Variant Library Synthesis for SC5D

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602286   
    OMIM disorders: 607330  
    UniProtKB/Swiss-Prot: SC5D_HUMAN, O75845
  • Lathosterolosis (LATHST) [MIM:607330]: Autosomal recessive disorder characterized by a complex phenotype,
    including multiple congenital anomalies, mental retardation, and liver disease. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 6 diseases for SC5D:    
    About MalaCards
    lathosterolosis    mental retardation    multiple myeloma    schizophrenia
    myeloma    lung cancer


    SC5D for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SC5D gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lathosterolosis 95.5 1 12812989 (1)


    Export disorders for SC5D 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 SC5D gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with SC5D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and mapping of a human cDNA(SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase. (PubMed id 8976377)1, 2, 3, 9 Matsushima M.... Nakamura Y. (Cytogenet. Cell Genet. 1996)
    2. Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. (PubMed id 12812989)1, 2, 9 Krakowiak P.A.... Porter F.D. (Hum. Mol. Genet. 2003)
    3. cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. (PubMed id 10786622)1, 2, 9 Nishi S.... Ishibashi T. (Biochim. Biophys. Acta 2000)
    4. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5- desaturase. (PubMed id 12189593)1, 2, 9 Brunetti-Pierri N....Parenti G. (Am. J. Hum. Genet. 2002)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles. (PubMed id 10344195)1, 2 Husselstein T.... Benveniste P. (Plant Mol. Biol. 1999)
    8. Molecular cloning and structural analysis of human sterol C5 desaturase. (PubMed id 11731337)1, 9 Sugawara T....Ishibashi T. (Biochim. Biophys. Acta 2001)
    9. Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. (PubMed id 23006423)1 Niu N....Wang L. (BMC Cancer 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 6309 HGNC: 10547 AceView: SC5DL Ensembl:ENSG00000109929 euGenes: HUgn6309
    ECgene: SC5D Kegg: 6309 H-InvDB: SC5D

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SC5D Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SC5D gene:
    Search GeneIP for patents involving SC5D

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



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