Human Gene ELOVL5 (ENST00000304434.11_7) from GENCODE V47lift37
  Description: ELOVL fatty acid elongase 5, transcript variant 1 (from RefSeq NM_021814.5)
Gencode Transcript: ENST00000304434.11_7
Gencode Gene: ENSG00000012660.14_10
Transcript (Including UTRs)
   Position: hg19 chr6:53,132,202-53,213,748 Size: 81,547 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr6:53,133,925-53,160,497 Size: 26,573 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:53,132,202-53,213,748)mRNA (may differ from genome)Protein (299 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ELOV5_HUMAN
DESCRIPTION: RecName: Full=Elongation of very long chain fatty acids protein 5; EC=2.3.1.199; AltName: Full=3-keto acyl-CoA synthase ELOVL5; AltName: Full=ELOVL fatty acid elongase 5; Short=ELOVL FA elongase 5; AltName: Full=Fatty acid elongase 1; Short=hELO1; AltName: Full=Very-long-chain 3-oxoacyl-CoA synthase 5;
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).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain.
SIMILARITY: Belongs to the ELO family.
SEQUENCE CAUTION: Sequence=AAF16688.1; Type=Erroneous initiation; Sequence=BAC11178.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ELOVL5
Diseases sorted by gene-association score: spinocerebellar ataxia 38* (1612), ataxia (12), glaucoma, normal tension (4), retinitis pigmentosa (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D013749 Tetrachlorodibenzodioxin
  • C006780 bisphenol A
  • C006253 pirinixic acid
  • C517041 (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)
  • C014211 2,3,7,8-tetrachlorodibenzofuran
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C023035 3,4,5,3',4'-pentachlorobiphenyl
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.22 RPKM in Adrenal Gland
Total median expression: 1088.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.20142-0.304 Picture PostScript Text
3' UTR -406.901723-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002076 - GNS1_SUR4

Pfam Domains:
PF01151 - GNS1/SUR4 family

ModBase Predicted Comparative 3D Structure on Q9NYP7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0009922 fatty acid elongase activity
GO:0016740 transferase activity
GO:0102336 3-oxo-arachidoyl-CoA synthase activity
GO:0102337 3-oxo-cerotoyl-CoA synthase activity
GO:0102338 3-oxo-lignoceronyl-CoA synthase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0006636 unsaturated fatty acid biosynthetic process
GO:0019367 fatty acid elongation, saturated fatty acid
GO:0030148 sphingolipid biosynthetic process
GO:0034625 fatty acid elongation, monounsaturated fatty acid
GO:0034626 fatty acid elongation, polyunsaturated fatty acid
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process
GO:0036109 alpha-linolenic acid metabolic process
GO:0042761 very long-chain fatty acid biosynthetic process
GO:0043651 linoleic acid metabolic process
GO:0045723 positive regulation of fatty acid biosynthetic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030425 dendrite
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0097447 dendritic tree


-  Descriptions from all associated GenBank mRNAs
  LF208556 - JP 2014500723-A/16059: Polycomb-Associated Non-Coding RNAs.
AF338241 - Homo sapiens elongation of very long chain fatty acids protein-like protein 2 (ELOVL2) mRNA, complete cds.
AF052129 - Homo sapiens clone 23904 mRNA sequence.
AF111849 - Homo sapiens PRO0530 mRNA, complete cds.
BC017270 - Homo sapiens ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), mRNA (cDNA clone IMAGE:4635513), partial cds.
AK125098 - Homo sapiens cDNA FLJ43108 fis, clone CTONG2021289, highly similar to Homo sapiens ELOVL family member 5, elongation of long chain fatty acids, mRNA.
AL136939 - Homo sapiens mRNA; cDNA DKFZp586B1824 (from clone DKFZp586B1824).
BC067123 - Homo sapiens ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), mRNA (cDNA clone MGC:74628 IMAGE:6160926), complete cds.
AK074748 - Homo sapiens cDNA FLJ90267 fis, clone NT2RM4001735, highly similar to Homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2.
AK074889 - Homo sapiens cDNA FLJ90408 fis, clone NT2RP2006512, highly similar to Homolog of yeast long chain polyunsaturated fatty acid elongatio.
AB209798 - Homo sapiens mRNA for homolog of yeast long chain polyunsaturated fatty acid elongatio protein.
LF377810 - JP 2014500723-A/185313: Polycomb-Associated Non-Coding RNAs.
JD231618 - Sequence 212642 from Patent EP1572962.
JD494627 - Sequence 475651 from Patent EP1572962.
JD494626 - Sequence 475650 from Patent EP1572962.
JD251768 - Sequence 232792 from Patent EP1572962.
JD172397 - Sequence 153421 from Patent EP1572962.
JD502667 - Sequence 483691 from Patent EP1572962.
LF377809 - JP 2014500723-A/185312: Polycomb-Associated Non-Coding RNAs.
LF377808 - JP 2014500723-A/185311: Polycomb-Associated Non-Coding RNAs.
JD499462 - Sequence 480486 from Patent EP1572962.
LF377807 - JP 2014500723-A/185310: Polycomb-Associated Non-Coding RNAs.
LF377806 - JP 2014500723-A/185309: Polycomb-Associated Non-Coding RNAs.
JD453128 - Sequence 434152 from Patent EP1572962.
AK299674 - Homo sapiens cDNA FLJ52737 complete cds, highly similar to Homo sapiens ELOVL family member 5, elongation of long chain fatty acids, mRNA.
LF377805 - JP 2014500723-A/185308: Polycomb-Associated Non-Coding RNAs.
AK302948 - Homo sapiens cDNA FLJ52813 complete cds, highly similar to Homo sapiens ELOVL family member 5, elongation of long chain fatty acids, mRNA.
JD508832 - Sequence 489856 from Patent EP1572962.
LF377804 - JP 2014500723-A/185307: Polycomb-Associated Non-Coding RNAs.
AF231981 - Homo sapiens long chain polyunsaturated fatty acid elongation enzyme (HELO1) mRNA, complete cds.
HQ447433 - Synthetic construct Homo sapiens clone IMAGE:100070760; CCSB014240_01 ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) (ELOVL5) gene, encodes complete protein.
KJ894491 - Synthetic construct Homo sapiens clone ccsbBroadEn_03885 ELOVL5 gene, encodes complete protein.
BC009838 - Homo sapiens ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast), mRNA (cDNA clone IMAGE:3944293).
CU688254 - Synthetic construct Homo sapiens gateway clone IMAGE:100022791 5' read ELOVL5 mRNA.
LF377803 - JP 2014500723-A/185306: Polycomb-Associated Non-Coding RNAs.
BC074503 - Homo sapiens cDNA clone IMAGE:4330861, partial cds.
DQ980601 - Homo sapiens ELOVL5 family member 5 protein (ELOVL5) mRNA, 5' UTR.
JD458656 - Sequence 439680 from Patent EP1572962.
JD219637 - Sequence 200661 from Patent EP1572962.
JD116141 - Sequence 97165 from Patent EP1572962.
MA444133 - JP 2018138019-A/16059: Polycomb-Associated Non-Coding RNAs.
MA613387 - JP 2018138019-A/185313: Polycomb-Associated Non-Coding RNAs.
MA613386 - JP 2018138019-A/185312: Polycomb-Associated Non-Coding RNAs.
MA613385 - JP 2018138019-A/185311: Polycomb-Associated Non-Coding RNAs.
MA613384 - JP 2018138019-A/185310: Polycomb-Associated Non-Coding RNAs.
MA613383 - JP 2018138019-A/185309: Polycomb-Associated Non-Coding RNAs.
MA613382 - JP 2018138019-A/185308: Polycomb-Associated Non-Coding RNAs.
MA613381 - JP 2018138019-A/185307: Polycomb-Associated Non-Coding RNAs.
MA613380 - JP 2018138019-A/185306: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7049 - icosapentaenoate biosynthesis II (6-desaturase, mammals)
PWY-7592 - arachidonate biosynthesis III (6-desaturase, mammals)
PWY-7606 - docosahexaenoate biosynthesis III (6-desaturase, mammals)
PWY-7724 - icosapentaenoate biosynthesis III (8-desaturase, mammals)
PWY-7727 - docosahexaenoate biosynthesis IV (4-desaturase, mammals)
PWY-7728 - (4Z,7Z,10Z,13Z,16Z)-docosa-4,7,10,13,16-pentaenoate biosynthesis II (4-desaturase)

Reactome (by CSHL, EBI, and GO)

Protein Q9NYP7 (Reactome details) participates in the following event(s):

R-HSA-2046083 Elongation of arachidonyl-CoA to docosatetraenoyl-CoA
R-HSA-2046100 Elongation of eicosapentaenoyl-CoA to docosapentaenoyl-CoA
R-HSA-548800 ELOVL1,2,3,5 elongate AA-CoA and Mal-CoA to 3ODCT-CoA
R-HSA-2046088 Elongation of stearidonoyl-CoA to eicosatetraenoyl-CoA
R-HSA-2046094 Elongation of gamma-lenolenoyl-CoA to dihomo-gamma-lenolenoyl-CoA
R-HSA-2046105 Linoleic acid (LA) metabolism
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs
R-HSA-2046104 alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
R-HSA-75105 Fatty acyl-CoA biosynthesis
R-HSA-8978868 Fatty acid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B4DZJ2, ELOV5_HUMAN, ELOVL2, ELOVL5 , ENST00000304434.1, ENST00000304434.10, ENST00000304434.2, ENST00000304434.3, ENST00000304434.4, ENST00000304434.5, ENST00000304434.6, ENST00000304434.7, ENST00000304434.8, ENST00000304434.9, F6SH78, NM_021814, PRO0530, Q59EL3, Q5TGH5, Q6NXE7, Q7L2S5, Q8NCG4, Q9NYP7, Q9UI22, uc317nkw.1, uc317nkw.2
UCSC ID: ENST00000304434.11_7
RefSeq Accession: NM_021814.5
Protein: Q9NYP7 (aka ELOV5_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ELOVL5:
ataxias (Hereditary Ataxia Overview)
sca38 (Spinocerebellar Ataxia Type 38)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.