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ELOVL5 Gene

protein-coding   GIFtS: 58
GCID: GC06M053132

ELOVL Fatty Acid Elongase 5

(Previous names: ELOVL family member 5, elongation of long chain fatty acids...)
  See ELOVL5-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
ELOVL Fatty Acid Elongase 51 2 3     dJ483K16.12
ELOVL Family Member 5, Elongation Of Long Chain Fatty Acids (FEN1/Elo2,
SUR4/Elo3-Like, Yeast)1 2
     Elongation Of Very Long Chain Fatty Acids Protein 52
Fatty Acid Elongase 12 3     Homolog Of Yeast Long Chain Polyunsaturated Fatty Acid Elongatio2
Very-Long-Chain 3-Oxoacyl-CoA Synthase 52 3     Homolog Of Yeast Long Chain Polyunsaturated Fatty Acid Elongation Enzyme 22
3-Keto Acyl-CoA Synthase ELOVL52 3     EC 2.3.1.1993
ELOVL FA Elongase 52 3     ELOVL23
HELO12 5     hELO13

External Ids:    HGNC: 213081   Entrez Gene: 604812   Ensembl: ENSG000000126607   OMIM: 6118055   UniProtKB: Q9NYP73   

Export aliases for ELOVL5 gene to outside databases

Previous GC identifers: GC06M053074 GC06M053179 GC06M053240 GC06M052964


(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 ELOVL5 Gene:
ELOVL5 plays a role in elongation of long-chain polyunsaturated fatty acids (Leonard et al., 2000 (PubMed
10970790)).(supplied by OMIM, Mar 2008)

GeneCards Summary for ELOVL5 Gene:
ELOVL5 (ELOVL fatty acid elongase 5) is a protein-coding gene. Diseases associated with ELOVL5 include low tension glaucoma. GO annotations related to this gene include fatty acid elongase activity. An important paralog of this gene is ELOVL7.

UniProtKB/Swiss-Prot: ELOV5_HUMAN, Q9NYP7
Function: Condensing enzyme that catalyzes the synthesis of monounsaturated and of polyunsaturated very long chain
fatty acids Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA

Gene Wiki entry for ELOVL5 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 at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ELOVL5 gene promoter:
         AhR   SRF   FOXF2   SRF (504 AA)   Olf-1   E4BP4   POU3F2   E47   Hand1   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidELOVL5 promoter sequence
   Search Chromatin IP Primers for ELOVL5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ELOVL5


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

Entrez Gene cytogenetic band: 6p21.1-p12.1   Ensembl cytogenetic band:  6p12.1   HGNC cytogenetic band: 6p21.1-p12.1

ELOVL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ELOVL5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M053132:  view genomic region     (about GC identifiers)

Start:
53,132,196 bp from pter      End:
53,213,977 bp from pter
Size:
81,782 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ELOV5_HUMAN, Q9NYP7 (See protein sequence)
Recommended Name: Elongation of very long chain fatty acids protein 5  
Size: 299 amino acids; 35293 Da
Sequence caution: Sequence=AAF16688.1; Type=Erroneous initiation; Sequence=BAC11178.1; Type=Erroneous initiation;
Secondary accessions: B4DZJ2 F6SH78 Q59EL3 Q5TGH5 Q6NXE7 Q7L2S5 Q8NCG4 Q9UI22
Alternative splicing: 3 isoforms:  Q9NYP7-1   Q9NYP7-2   Q9NYP7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ELOVL5: NX_Q9NYP7

Explore proteomics data for ELOVL5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys267
  • Modification sites at PhosphoSitePlus

  • See ELOVL5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001229757.1  NP_001229759.1  NP_001229760.1  NP_068586.1  

    ENSEMBL proteins: 
     ENSP00000306640   ENSP00000359951   ENSP00000359956   ENSP00000440728   ENSP00000438095  
    Reactome Protein details: Q9NYP7

    ELOVL5 Human Recombinant Protein Products:

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    antibodies-online peptides for ELOVL5

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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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    1 InterPro protein domain:
     IPR002076 GNS1_SUR4

    Graphical View of Domain Structure for InterPro Entry Q9NYP7

    ProtoNet protein and cluster: Q9NYP7

    1 Blocks protein domain: IPB002076 GNS1/SUR4 membrane protein

    UniProtKB/Swiss-Prot: ELOV5_HUMAN, Q9NYP7
    Similarity: Belongs to the ELO family


    Find genes that share domains with ELOVL5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: ELOV5_HUMAN, Q9NYP7
    Function: Condensing enzyme that catalyzes the synthesis of monounsaturated and of polyunsaturated very long chain
    fatty acids Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA
    Catalytic activity: A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2)

         Enzyme Number (IUBMB): EC 2.3.1.1991

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0009922fatty acid elongase activity IDA--
         
    Find genes that share ontologies with ELOVL5           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Elovl5):
     liver/biliary system  reproductive system 

    Find genes that share phenotypes with ELOVL5           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ELOVL5

    miRNA
    Products:
        
    miRTarBase miRNAs that target ELOVL5:
    hsa-mir-19b-3p (MIRT050635), hsa-mir-215-5p (MIRT024815), hsa-mir-16-5p (MIRT031621), hsa-mir-324-5p (MIRT043118), hsa-mir-192-5p (MIRT026394), hsa-mir-124-3p (MIRT001832), hsa-mir-30a-5p (MIRT028547)

    Block miRNA regulation of human, mouse, rat ELOVL5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ELOVL5 (see all 23):
    hsa-miR-30c hsa-miR-4291 hsa-miR-3910 hsa-miR-139-5p hsa-miR-30d hsa-miR-218 hsa-miR-30a hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidELOVL5 3' UTR sequence
    Inhib. RNA
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    (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
    ELOV5_HUMAN, Q9NYP7: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    peroxisome2
    golgi apparatus1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ELOVL5           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 ELOVL5 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Triglyceride Biosynthesis
    Triglyceride Biosynthesis
    Fatty Acyl-CoA Biosynthesis0.00
    Synthesis of very long-chain fatty acyl-CoAs0.00
    2alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic acid (ALA) metabolism0.00
    Linoleic acid (LA) metabolism0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Biosynthesis of unsaturated fatty acids
    Biosynthesis of unsaturated fatty acids0.38
    Fatty acid elongation0.38
    5Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65


    Find genes that share SuperPaths with ELOVL5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for ELOVL5
        Linoleic acid (LA) metabolism
    Synthesis of very long-chain fatty acyl-CoAs
    alpha-linolenic acid (ALA) metabolism


    3 Kegg Pathways  (Kegg details for ELOVL5):
        Fatty acid elongation
    Biosynthesis of unsaturated fatty acids
    Fatty acid metabolism

    UniProtKB/Swiss-Prot: ELOV5_HUMAN, Q9NYP7
    Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ELOVL5
    Interactions:

        Search GeneGlobe Interaction Network for ELOVL5

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

    Selected Interacting proteins for ELOVL5 (ENSP000003066404) via UniProtKB, MINT, STRING, and/or I2D (see all 51)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELOVL2ENSP000003466934STRING: ENSP00000346693
    PCNAENSP000003684384STRING: ENSP00000368438
    ELOVL3ENSP000003590224STRING: ENSP00000359022
    ELOVL6ENSP000003047364STRING: ENSP00000304736
    BIN3ENSP000002764164STRING: ENSP00000276416
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006636unsaturated fatty acid biosynthetic process IEA--
    GO:0019432triglyceride biosynthetic process TAS--
    GO:0033559unsaturated fatty acid metabolic process TAS--
    GO:0034625fatty acid elongation, monounsaturated fatty acid IDA--
    GO:0034626fatty acid elongation, polyunsaturated fatty acid IDA--

    Find genes that share ontologies with ELOVL5           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 ELOVL5 (ELOV5)



    (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 ELOVL5 gene (4 alternative transcripts): 
    NM_001242828.1  NM_001242830.1  NM_001242831.1  NM_021814.4  

    Unigene Cluster for ELOVL5:

    ELOVL fatty acid elongase 5
    Hs.520189  [show with all ESTs]
    Unigene Representative Sequence: AL833001
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304434 ENST00000485336 ENST00000465983 ENST00000486973 ENST00000370913(uc003pbu.3 uc011dwy.1)
    ENST00000370918(uc011dwx.2 uc003pbr.2 uc003pbs.2) ENST00000542638(uc003pbq.1)
    ENST00000541407
    miRNA
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    hsa-miR-30c hsa-miR-4291 hsa-miR-3910 hsa-miR-139-5p hsa-miR-30d hsa-miR-218 hsa-miR-30a hsa-miR-124
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      QuantiTect SYBR Green Assays in human, mouse, rat ELOVL5
      QuantiFast Probe-based Assays in human, mouse, rat ELOVL5

    Additional mRNA sequence: 

    AB209798.1 AF052129.1 AF231981.1 AF338241.1 AK074748.1 AK074889.1 AK097937.2 AK125098.1 
    AK302948.1 AL136939.1 AL833001.1 BC017270.2 BC067123.1 BC074503.1 NR_046241.1 

    Selected DOTS entries (see all 30):

    DT.99966387  DT.451556  DT.121394459  DT.406731  DT.91897598  DT.95360996  DT.95227030  DT.121394511 
    DT.121394435  DT.121394452  DT.97864726  DT.99930231  DT.97864724  DT.100824466  DT.95311758  DT.121394523 
    DT.91766750  DT.95273689  DT.121394449  DT.121394457  DT.121394487  DT.121394516  DT.121394520  DT.121394533 

    Selected AceView cDNA sequences (see all 507):

    BP367416 CB218728 BF794481 AF338241 AK074748 C14260 AA487608 T34601 
    BM996326 AA609773 BG168015 BQ217076 AL136939 BX479497 AA634613 BC017270 
    CR599163 AA372714 BE886913 AA578557 AI863689 BP870785 AI394463 CA416671 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ELOVL5 (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14a ·
    SP1:                                      -     -     -     -     -           -     -                       -     -                                             
    SP2:                                                  -     -     -           -     -                       -     -                                             
    SP3:                                      -     -     -     -     -           -     -                       -     -                                   -         
    SP4:                                      -     -     -     -     -           -     -                                                                           
    SP5:                                                              -           -     -                       -     -                                             

    ExUns: 14b ^ 15a · 15b · 15c · 15d · 15e · 15f
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for ELOVL5

    (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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    ELOVL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCATCTGTTT
    ELOVL5 Expression
    About this image


    ELOVL5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ELOVL5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ELOVL5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520189

    UniProtKB/Swiss-Prot: ELOV5_HUMAN, Q9NYP7
    Tissue specificity: Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate,
    lung and brain

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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ELOVL5 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Elovl51 , 5 ELOVL family member 5, elongation of long chain fatty more1, 5 87.29(n)1
    92.98(a)1
      9 (43.36 cM)5
    688011  NM_134255.31  NP_599016.21 
     779173645 
    chicken
    (Gallus gallus)
    Aves ELOVL51 ELOVL fatty acid elongase 5 80.9(n)
    84.75(a)
      428646  NM_001199197.1  NP_001186126.1 
    lizard
    (Anolis carolinensis)
    Reptilia ELOVL56
    ELOVL fatty acid elongase 5
    83(a)
    1 ↔ 1
    1(151536588-151561034)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.189192 Xenopus laevis transcribed sequences 73.79(n)    BI448324.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635492 hypothetical protein MGC63549 78.62(n)   393425  AF532782.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Elo68alpha6
    Elo68beta6
    Elongase 68beta
    33(a)
    32(a)
    many ↔ many
    many ↔ many
    3L(11094975-11096130)
    3L(11093775-11094798)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FEN11 FEN1 41.79(n)
    32.5(a)
      850400   NP_009963.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G064701 AT3G06470 55.8(n)
    43.48(a)
      819824  NM_111522.2  NP_187298.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g07015001 Os03g0701500 45.74(n)
    31.84(a)
      4333830  NM_001057537.1  NP_001051002.1 


    ENSEMBL Gene Tree for ELOVL5 (if available)
    TreeFam Gene Tree for ELOVL5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ELOVL5 gene
    ELOVL72  ELOVL42  ELOVL32  ELOVL12  ELOVL62  ELOVL22  
    4 SIMAP similar genes for ELOVL5 using alignment to 2 protein entries:     ELOV5_HUMAN (see all proteins):
    ELOVL2    ELOVL4    ELOVL7    ELOVL1

    Find genes that share paralogs with ELOVL5           About GenesLikeMe



    (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 ELOVL5 (see all 1451)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs351203451,2
    C--53106652(+) TATTT-/GTATAGC 4 -- int11Minor allele frequency- GT:0.00NA 2
    rs1450222321,2
    C--53131760(+) GGCTG-/GTTTTTTT 3 -- cds10--------
    rs93821921,2
    C,F,A--53131918(+) GGTAAG/CGGGAG 3 -- int19Minor allele frequency- C:0.39NA WA CSA EA 369
    rs1466503141,2
    --53132154(+) TTCTCC/TAGTTC 3 -- int10--------
    rs1905811871,2
    --53132245(+) AACAAC/TGTAGG 3 -- ut310--------
    rs1830916871,2
    --53132252(+) TAGGTA/CTATCC 3 -- ut310--------
    rs734334341,2
    C--53132290(+) CACTAC/TTGAAT 3 -- ut311Minor allele frequency- T:0.50WA 2
    rs32074691,2
    --53132313(-) TATTTC/TAATAC 3 -- ut31 ese31Minor allele frequency- T:0.00MN 184
    rs1390252921,2
    --53132330(+) GACATC/TTGCAA 3 -- ut310--------
    rs22730121,2
    C,F,H--53132475(+) TATAGT/CACGAA 3 -- ut31 ese37Minor allele frequency- C:0.02NS EA NA 746

    HapMap Linkage Disequilibrium report for ELOVL5 (53132196 - 53213977 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ELOVL5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv270244CNV Insertion20981092
    esv259787OTHER Complex20981092
    esv259443OTHER Complex20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ELOVL5
    DNA2.0 Custom Variant and Variant Library Synthesis for ELOVL5

    (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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    OMIM gene information: 611805    OMIM disorders: --

    1 disease for ELOVL5:    
    About MalaCards
    low tension glaucoma

    1 disease from the University of Copenhagen DISEASES database for ELOVL5:
    Low tension glaucoma

    Find genes that share disorders with ELOVL5           About GenesLikeMe

    Genetic Association Database (GAD): ELOVL5
    Human Genome Epidemiology (HuGE) Navigator: ELOVL5 (3 documents)

    Export disorders for ELOVL5 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 ELOVL5 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with ELOVL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human cDNA encoding a novel enzyme involved in the elongation of long-chain polyunsaturated fatty acids. (PubMed id 10970790)1, 2, 3 Leonard A.E.... Mukerji P. (Biochem. J. 2000)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PubMed id 20937905)1, 2 Ohno Y.... Kihara A. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    4. Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. (PubMed id 20363506)1, 4  ....Bahram S. (Ophthalmology 2010)
    5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    6. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    10. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)

    (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: 60481 HGNC: 21308 AceView: ELOVL5 Ensembl:ENSG00000012660 euGenes: HUgn60481
    ECgene: ELOVL5 Kegg: 60481 H-InvDB: ELOVL5

    (According to HUGE)
    About This Section

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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 ELOVL5 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 ELOVL5 gene:
    Search GeneIP for patents involving ELOVL5

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



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