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

SC5DL Gene

protein-coding   GIFtS: 59
GCID: GC11P121197

sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S....

(Previous names: sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like,...)
 Explore 6 diseases affiliated with
SC5DL via our new
 Human Malady Compendium 
Biological research products
for SC5DL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, S.
Cerevisiae)-Like1 2
     S5DES2
Delta(7)-Sterol 5-Desaturase2 3     SC5D2
Lathosterol 5-Desaturase2 3     Fungal ERG3, Delta-5-Desaturase-Like2
C-5 Sterol Desaturase2 3     Lathosterol Dehydrogenase2
ERG32 5     Lathosterol Oxidase2
Sterol-C5-Desaturase (ERG3 Delta-5-Desaturase Homolog, Fungal)-Like1     EC 1.14.21.63
Sterol-C5-Desaturase (Fungal ERG3, Delta-5-Desaturase)-Like1     Sterol-C5-Desaturase1
3beta-Hydroxysteroid-Delta5-Desaturase1     

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

Export aliases for SC5DL gene to outside databases

Previous GC identifers: GC11P123163 GC11P122675 GC11P120701 GC11P120668 GC11P117105


(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 SC5DL:
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)

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

Gene Wiki entry for SC5DL (Sterol-C5-desaturase-like)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SC5DL gene promoter:
         SREBP-1a   GATA-1   ATF6   C/EBPalpha   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SC5DL promoter sequence
   Search SABiosciences Chromatin IP Primers for SC5DL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SC5DL


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

SC5DL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SC5DL gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P121197:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SC5D_HUMAN, O75845 (See protein sequence)
Recommended Name: Lathosterol oxidase  
Size: 299 amino acids; 35301 Da
Cofactor: Iron (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
Secondary accessions: O00119 Q9UK15

Explore the universe of human proteins at neXtProt for SC5DL: NX_O75845

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75845

  • SC5DL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000264027   ENSP00000436290   ENSP00000432550   ENSP00000376539  
    Reactome Protein details: O75845
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    Uscn Proteins for SC5DL

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005792microsome ----
    GO:0016021integral to membrane IEA--


    SC5DL for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SC5DL for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006694 Fatty_acid_hydroxylase

    Graphical View of Domain Structure for InterPro Entry O75845

    ProtoNet protein and cluster: O75845

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

         Genatlas biochemistry entry for SC5DL:
    sterol-C5-desaturase,fungal homolog

    Enzyme Number (IUBMB): EC 1.14.21.61

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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--


    SC5DL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SC5DL:
     Decreased Salmonella enterica  

    Animal Models:
         Mouse knock-out Sc5dtm1Fdp for SC5DL
         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sc5d):
     adipose tissue  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  integument  limbs/digits/tail  liver/biliary system 
     mortality/aging  respiratory system  skeleton 

    SC5DL for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1cholesterol biosynthesis III (via desmosterol)
    cholesterol biosynthesis III (via desmosterol)1.00
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)1.00
    cholesterol biosynthesis I1.00
    Steroid biosynthesis0.60
    2Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    3Cholesterol biosynthesis
    Cholesterol biosynthesis1.00
    Cholesterol Biosynthesis0.68
    superpathway of cholesterol biosynthesis0.81
    4Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)1.00
    Activation of Gene Expression by SREBP (SREBF)0.67
    5Expression of Lathosterol Oxidase (SC5D, SC5DL)
    Expression of Lathosterol Oxidase (SC5D, SC5DL)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5 BioSystems Pathways for SC5DL 
        Cholesterol Biosynthesis
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
    cholesterol biosynthesis III (via desmosterol)

    5/6        Reactome Pathways for SC5DL (see all 6)
        Expression of Lathosterol Oxidase (SC5D, SC5DL)
    Metabolism
    Cholesterol biosynthesis
    Activation of Gene Expression by SREBP (SREBF)
    Metabolism of lipids and lipoproteins


    2         Kegg Pathways  (Kegg details for SC5DL):
        Steroid biosynthesis
    Metabolic pathways


    SC5DL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SC5DL

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

    5/142 Interacting proteins for SC5DL (O758453 ENSP000002640274) via UniProtKB, MINT, STRING, and/or I2D (see all 142)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    HIST1H2BIP628073I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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--


    SC5DL for ontologies           About GeneDecksing



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

    SC5DL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SC5DL

    10/15 HMDB Compounds for SC5DL (see all 15)    About this table
    CompoundSynonyms CAS #PubMed Ids
    7-Dehydrocholesterol(-)-7-dehydrocholesterol (see all 26)434-16-211731337
    5-Dehydroavenasterol ----
    5-DehydroepisterolErgosta-5,7,24(28)-trien-3beta-ol (see all 2)23582-83-4--
    Delta7-Avenasterol5alpha-Stigmasta-7,24(28)-dien-3beta-ol (see all 10)23290-26-8--
    Episterol 474-68-0--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    IronArmco iron (see all 19)7439-89-6--
    Lathosterol(3beta)-Cholest-7-en-3-ol (see all 26)80-99-9--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    6 Novoseek chemical compound relationships for SC5DL 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)

    Search CenterWatch for drugs/clinical trials and news about SC5DL / SC5D 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SC5DL gene (2 alternative transcripts): 
    NM_001024956.2  NM_006918.4  

    Unigene Cluster for SC5DL:

    Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like
    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 cDNA 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 

    24/315 AceView cDNA sequences (see all 315):

    BI494086 BM314114 BM721058 BX495986 BM721025 F11632 BX478737 AU130431 
    BG740027 BM683012 BF792424 AI394121 CB164483 AA639446 AI301316 BM510014 
    AI479481 AA868151 AV653958 AW235339 BU145531 AW020609 N91268 BM313833 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SC5DL    About this scheme

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


    ECgene alternative splicing isoforms for SC5DL

    (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

    SC5DL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTAATCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SC5DL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SC5DL

    SOURCE GeneReport for Unigene cluster: Hs.287749
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    In Situ
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    (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 SC5DL gene from 7/22 species (see all 22)    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 LOC1008577561 lathosterol oxidase-like 64.77(n)
    68.33(a)
      100857756  XM_003642589.1  XP_003642637.1 
    lizard
    (Anolis carolinensis)
    Reptilia SC5DL6
    --
    66(a)
    1 ↔ 1
    LGa(2222395-2231450)
    zebrafish
    (Danio rerio)
    Actinopterygii sc5dl1 sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, more 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
    Erg3p1
    54.45(n)1
    51.72(a)1
      12(253861-254958)4
    8507451, 4  NP_013157.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G025906
    STE16
    delta(7)-sterol-C5(6)-desaturase 1
    27(a)
    27(a)
    many → 1
    many → 1
    3(549340-550553)
    3(546903-548795)
    rice
    (Oryza sativa)
    Liliopsida --
    fatty acid hydroxylase, putative, expressed
    24(a)
    1 ↔ 1
    1(1887524-1891298)


    ENSEMBL Gene Tree for SC5DL (if available)
    TreeFam Gene Tree for SC5DL (if available) 

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/327 NCBI SNPs in SC5DL are shown (see all 327    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048942971,2
    Cpathogenic128115223(+) CCTTTA/CTTTCT 4 Y S mis10--------
    rs1048942951,2
    Cpathogenic128115274(+) CTTCCA/GACAAG 4 Q R mis10--------
    rs71191721,2
    C--117102074(+) GCAAAC/TAATGA 1 -- us2k1 tfbs32Minor allele frequency- T:0.00NA 4
    rs71190761,2
    C--117102075(+) CAAACA/GATGAA 1 -- us2k1 tfbs32Minor allele frequency- G:0.00NA 4
    rs1115934571,2
    C,--117102242(+) AAGCCG/AGAAGC 2 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1179289061,2
    C,F,--117103666(+) GCGCTA/CGAAAA 2 -- us2k11Minor allele frequency- C:0.02NA 120
    rs8914351,2
    C,F,H,--117104552(-) GCGATC/GCCTCC 2 -- int113Minor allele frequency- G:0.03MN NA NS EA WA 928
    rs124210791,2
    C,F,H--117106293(+) ACGTAG/ATACCC 2 -- int15Minor allele frequency- A:0.00NS EA NA 420
    rs787760211,2
    C,--117106895(+) CCTGTC/GTGTCC 2 -- int12Minor allele frequency- G:0.09WA 120
    rs730171401,2
    C,--117107418(+) AGTGAC/TGGAGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for SC5DL (121163162 - 121184119 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SC5DL: --
    Human Gene Mutation Database (HGMD): SC5DL

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    SC5DL for disorders           About GeneDecksing

    OMIM gene information: 602286   
    OMIM disorders: 607330  
    UniProtKB/Swiss-Prot: SC5D_HUMAN, O75845
  • Defects in SC5DL are the cause of lathosterolosis (LATHST) [MIM:607330]. This autosomal recessive disorder is
  • characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease

    6 diseases for SC5DL:    About MalaCards
    lathosterolosis    smith-lemli-opitz syndrome    cholesterol    mental retardation syndrome
    mucolipidosis    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for SC5DL:
    Smith-Lemli-Opitz syndrome

    1 Novoseek disease relationship for SC5DL gene    About this table

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

    Human Genome Epidemiology (HuGE) Navigator: SC5DL (4 documents)

    Export disorders for SC5DL 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 SC5DL gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with SC5DL)
        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. (1996)
    2. Molecular cloning and structural analysis of human sterol C5 desaturase. (PubMed id 11731337)1, 6, 9 Sugawara T....Ishibashi T. (2001)
    3. 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. (2003)
    4. cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. (PubMed id 10786622)1, 2, 9 Nishi S.... Ishibashi T. (2000)
    5. 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. (2002)
    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. (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. (1999)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6309 HGNC: 10547 AceView: SC5DL Ensembl:ENSG00000109929 euGenes: HUgn6309
    ECgene: SC5DL Kegg: 6309 H-InvDB: SC5DL

    (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 SC5DL 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 SC5DL gene:
    Search GeneIP for patents involving SC5DL

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



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