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This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced trans... See more...
Aliases for ELOVL5 Gene
Aliases for ELOVL5 Gene
- ELOVL Fatty Acid Elongase 5 2 3 4 5
- HELO1 2 3 4
- ELOVL Family Member 5, Elongation Of Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3-Like, Yeast) 2 3
- Elongation Of Very Long Chain Fatty Acids Protein 5 3 4
- Very Long Chain 3-Ketoacyl-CoA Synthase 5 3 4
- Very Long Chain 3-Oxoacyl-CoA Synthase 5 3 4
- 3-Keto Acyl-CoA Synthase ELOVL5 3 4
- Spinocerebellar Ataxia 38 2 3
External Ids for ELOVL5 Gene
- HGNC: 21308
- Entrez Gene: 60481
- Ensembl: ENSG00000012660
- OMIM: 611805
- UniProtKB: Q9NYP7
Previous HGNC Symbols for ELOVL5 Gene
- SCA38
Previous GeneCards Identifiers for ELOVL5 Gene
- GC06M053074
- GC06M053179
- GC06M052964
- GC06M053132
Summaries for ELOVL5 Gene
-
This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
GeneCards Summary for ELOVL5 Gene
ELOVL5 (ELOVL Fatty Acid Elongase 5) is a Protein Coding gene. Diseases associated with ELOVL5 include Spinocerebellar Ataxia 38 and Intermittent Squint. Among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include fatty acid elongase activity. An important paralog of this gene is ELOVL2.
UniProtKB/Swiss-Prot Summary for ELOVL5 Gene
-
Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity) (PubMed:10970790, PubMed:20937905). In conditions where the essential linoleic and alpha linoleic fatty acids are lacking it is also involved in the synthesis of Mead acid from oleic acid (By similarity).
Additional gene information for ELOVL5 Gene
- HGNC(21308)
- Entrez Gene(60481)
- Ensembl(ENSG00000012660)
- OMIM(611805)
- UniProtKB(Q9NYP7)
- Open Targets Platform(ENSG00000012660)
- Monarch Initiative
- Search for ELOVL5 at DataMed
- Search for ELOVL5 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELOVL5 Gene
Genomics for ELOVL5 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ELOVL5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ELOVL5 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELOVL5
- Top Transcription factor binding sites by QIAGEN in the ELOVL5 gene promoter:
-
- AhR
- ARP-1
- E47
- E4BP4
- FOXF2
- Hand1
- Olf-1
- POU3F2
- SRF
- SRF (504 AA)
Genomic Locations for ELOVL5 Gene
Genomic Locations for ELOVL5 Gene
- chr6:53,267,398-53,349,179
- (GRCh38/hg38)
- Size:
- 81,782 bases
- Orientation:
- Minus strand
- chr6:53,132,196-53,213,977
- (GRCh37/hg19)
- Size:
- 81,782 bases
- Orientation:
- Minus strand
Genomic View for ELOVL5 Gene
Genes around ELOVL5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p12.1 by HGNC
- 6p12.1 by Entrez Gene
- 6p12.1 by Ensembl
ELOVL5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ELOVL5 Gene
Proteins for ELOVL5 Gene
-
Protein details for ELOVL5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NYP7-ELOV5_HUMAN
- Recommended name:
- Elongation of very long chain fatty acids protein 5
- Protein Accession:
- Q9NYP7
- B4DZJ2
- F6SH78
- Q59EL3
- Q5TGH5
- Q6NXE7
- Q7L2S5
- Q8NCG4
- Q9UI22
Protein attributes for ELOVL5 Gene
- Size:
- 299 amino acids
- Molecular mass:
- 35293 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAF16688.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11178.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for ELOVL5 Gene
Post-translational modifications for ELOVL5 Gene
Other Protein References for ELOVL5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ELOVL5 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ELOVL5
- Novus Biologicals Antibodies for ELOVL5
-
Abcam antibodies for ELOVL5
- Invitrogen Antibodies for ELOVL5 (AFLGC-ELOVL5)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ELOVL5
- Sino Biological Antibodies for ELOVL5
Protein Products
-
OriGene Purified Proteins for ELOVL5
- Search Origene for MassSpec and Protein Over-expression Lysates for ELOVL5
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- Novus Biologicals proteins for ELOVL5
No data available for DME Specific Peptides for ELOVL5 Gene
Domains & Families for ELOVL5 Gene
Gene Families for ELOVL5 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ELOVL5 Gene
Suggested Antigen Peptide Sequences for ELOVL5 Gene
- GenScript: Design optimal peptide antigens:
-
- Fatty acid elongase 1 (ELOV5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NYP7- Family:
-
- Belongs to the ELO family. ELOVL5 subfamily.
Function for ELOVL5 Gene
Molecular function for ELOVL5 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity) (PubMed:10970790, PubMed:20937905). In conditions where the essential linoleic and alpha linoleic fatty acids are lacking it is also involved in the synthesis of Mead acid from oleic acid (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a very-long-chain acyl-CoA + H(+) + malonyl-CoA = a very-long-chain 3-oxoacyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:32727, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:90725, ChEBI:CHEBI:90736; EC=2.3.1.199; Evidence={ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:19575253, ECO:0000269|PubMed:20937905};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(6Z,9Z,12Z)-octadecatrienoyl-CoA + H(+) + malonyl-CoA = (8Z,11Z,14Z)-3-oxoeicosatrienoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:35379, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57363, ChEBI:CHEBI:57384, ChEBI:CHEBI:71481; Evidence={ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:20937905};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(9Z,12Z,15Z)-octadecatrienoyl-CoA + H(+) + malonyl-CoA = (11Z,14Z,17Z)-3-oxoeicosatrienoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36523, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74034, ChEBI:CHEBI:74054; Evidence={ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:20937905};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(9Z)-hexadecenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(11Z)-octadecenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:39675, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:61540, ChEBI:CHEBI:76555; Evidence={ECO:0000269|PubMed:10970790};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(9Z)-octadecenoyl-CoA + H(+) + malonyl-CoA = (11Z)-3-oxoicosenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36511, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:57387, ChEBI:CHEBI:74011; Evidence={ECO:0000269|PubMed:10970790};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(11Z)-octadecenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(13Z)-eicosenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:39679, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:75121, ChEBI:CHEBI:76559; Evidence={ECO:0000269|PubMed:10970790};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(9Z,12Z)-octadecadienoyl-CoA + H(+) + malonyl-CoA = (11Z,14Z)-3-oxoicosa-11,14-dienoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36503, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:57384, ChEBI:CHEBI:74012; Evidence={ECO:0000269|PubMed:20937905};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(6Z,9Z,12Z,15Z)-octadecatetraenoyl-CoA + H(+) + malonyl-CoA = (8Z,11Z,14Z,17Z)-3-oxoicosatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:35391, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:71489, ChEBI:CHEBI:71491; Evidence={ECO:0000269|PubMed:10970790};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + H(+) + malonyl-CoA = (7Z,10Z,13Z,16Z)-3-oxodocosatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36475, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:57384, ChEBI:CHEBI:73852; Evidence={ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:19575253, ECO:0000269|PubMed:20937905};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(5Z,8Z,11Z,14Z,17Z)-eicosapentaenoyl-CoA + H(+) + malonyl-CoA = (7Z,10Z,13Z,16Z,19Z)-3-oxodocosapentaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36483, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:73862, ChEBI:CHEBI:73863; Evidence={ECO:0000269|PubMed:10970790};.
Enzyme Numbers (IUBMB) for ELOVL5 Gene
Phenotypes From GWAS Catalog for ELOVL5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 20937905 |
| GO:0009922 | fatty acid elongase activity | IEA,IDA | 20427700 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0102336 | 3-oxo-arachidoyl-CoA synthase activity | IEA | -- |
| GO:0102337 | 3-oxo-cerotoyl-CoA synthase activity | IEA | -- |
Phenotypes for ELOVL5 Gene
- MGI mutant phenotypes for ELOVL5:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ELOVL5:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ELOVL5 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ELOVL5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ELOVL5
-
Santa Cruz Biotechnology (SCBT) CRISPR for ELOVL5
miRNA for ELOVL5 Gene
- miRTarBase miRNAs that target ELOVL5
-
- hsa-miR-124-3p (MIRT001832)
- gga-miR-2131-5p (MIRT004429)
- mmu-miR-425-5p (MIRT008819)
- mmu-miR-340-5p (MIRT010563)
- mmu-miR-15a-5p (MIRT011830)
- mmu-miR-181a-5p (MIRT014309)
- mmu-miR-149-5p (MIRT014818)
- mmu-miR-9-5p (MIRT015424)
- hsa-miR-215-5p (MIRT024815)
- hsa-miR-192-5p (MIRT026394)
- hsa-miR-30a-5p (MIRT028547)
- hsa-miR-16-5p (MIRT031621)
- hsa-miR-324-5p (MIRT043118)
- hsa-miR-19b-3p (MIRT050635)
- hsa-miR-3145-3p (MIRT101108)
- hsa-miR-4260 (MIRT477440)
- hsa-miR-1227-5p (MIRT477441)
- hsa-miR-486-3p (MIRT477442)
- hsa-miR-646 (MIRT477443)
- hsa-miR-24-2-5p (MIRT507401)
- hsa-miR-24-1-5p (MIRT507402)
- hsa-miR-6862-3p (MIRT507403)
- hsa-miR-6784-3p (MIRT507404)
- hsa-miR-3667-3p (MIRT507405)
- hsa-miR-3620-3p (MIRT507406)
- hsa-miR-6865-3p (MIRT507407)
- hsa-miR-3680-5p (MIRT507408)
- hsa-miR-4798-3p (MIRT507409)
- hsa-miR-548aw (MIRT511955)
- hsa-miR-9-3p (MIRT511956)
- hsa-miR-1468-3p (MIRT511957)
- hsa-miR-548x-5p (MIRT511958)
- hsa-miR-548g-5p (MIRT511959)
- hsa-miR-548f-5p (MIRT511960)
- hsa-miR-548aj-5p (MIRT511961)
- hsa-miR-6835-3p (MIRT511962)
- hsa-miR-4422 (MIRT511963)
- hsa-miR-548g-3p (MIRT511964)
- hsa-miR-548av-3p (MIRT511965)
- hsa-miR-19a-3p (MIRT511966)
- hsa-miR-4699-3p (MIRT542993)
- hsa-miR-599 (MIRT548420)
- hsa-miR-3161 (MIRT548421)
- hsa-miR-329-5p (MIRT548422)
- hsa-miR-4748 (MIRT548423)
- hsa-miR-5683 (MIRT548424)
- hsa-miR-4464 (MIRT548425)
- hsa-miR-570-5p (MIRT548426)
- hsa-miR-548ba (MIRT548427)
- hsa-miR-548ai (MIRT548428)
- hsa-miR-548ag (MIRT548429)
- hsa-miR-30d-5p (MIRT548430)
- hsa-miR-30c-5p (MIRT548431)
- hsa-miR-30b-5p (MIRT548432)
- hsa-miR-30e-5p (MIRT548433)
- mmu-miR-369-3p (MIRT583786)
- mmu-miR-374c-5p (MIRT583787)
- mmu-miR-494-3p (MIRT583788)
- mmu-miR-190a-5p (MIRT593888)
- mmu-miR-190b-5p (MIRT593889)
- mmu-miR-743a-3p (MIRT593890)
- mmu-miR-743b-3p (MIRT593891)
- mmu-miR-667-3p (MIRT593892)
- mmu-miR-1954 (MIRT593893)
- mmu-miR-483-5p (MIRT593894)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for ELOVL5 - Select products 50% OFF >
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-
- MG204173
- MR204173
- MR204173L1
- MR204173L2
- MR204173L3
- MR204173L4
- RC209435
- RC209435L1
- RC209435L2
- RC209435L3
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- RC231598
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- RR200559
- RR200559L3
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- MR204173L1V
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- RC209435L1V
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- RC209435L3V
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- RR200559L3V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ELOVL5
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-
Horizon Cell Lines for ELOVL5
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ELOVL5 Gene
Localization for ELOVL5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ELOVL5 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein. Cell projection, dendrite. Note=In Purkinje cells, the protein localizes to the soma and proximal portion of the dendritic tree. {ECO:0000255 HAMAP-Rule:MF_03205, ECO:0000269 PubMed:25065913}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 4 |
| extracellular | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| nucleus | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IDA | 20937905 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030176 | integral component of endoplasmic reticulum membrane | IBA | 21873635 |
Pathways & Interactions for ELOVL5 Gene
Pathways by source for ELOVL5 Gene
3 BioSystems pathways for ELOVL5 Gene
4 KEGG pathways for ELOVL5 Gene
UniProtKB/Swiss-Prot Q9NYP7-ELOV5_HUMAN
- Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis.
Interacting Proteins for ELOVL5 Gene
Selected Interacting proteins:
Q9NYP7-ELOV5_HUMAN
ENSP00000359956
for ELOVL5 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ELOVL5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
| GO:0006633 | fatty acid biosynthetic process | IEA | -- |
| GO:0006636 | unsaturated fatty acid biosynthetic process | IEA | -- |
| GO:0019367 | fatty acid elongation, saturated fatty acid | IEA,IBA | 21873635 |
No data available for SIGNOR curated interactions for ELOVL5 Gene
Drugs & Compounds for ELOVL5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| alpha-linolenic acid | Approved, Investigational | Nutra | Target, substrate | 0 | ||
| Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
| Malonyl-CoA | Experimental | Pharma | 0 | |||
| Evening primrose oil | Investigational | Nutra | Enzyme, ligand | 24 | ||
| Coenzyme A | Investigational | Nutra | 0 |
Transcripts for ELOVL5 Gene
mRNA/cDNA for ELOVL5 Gene
- 5 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000304434 2765 nts (view in UCSC)
- ENST00000485336 761 nts (view in UCSC)
- ENST00000465983 696 nts (view in UCSC)
- ENST00000486973 794 nts (view in UCSC)
- ENST00000370913 580 nts (view in UCSC)
CRISPR Products
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-
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miRNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for ELOVL5 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG204173
- MR204173
- MR204173L1
- MR204173L2
- MR204173L3
- MR204173L4
- RC209435
- RC209435L1
- RC209435L2
- RC209435L3
- RC209435L4
- RC231598
- RC232486
- RC233581
- RC237293
- RG209435
- RG231598
- RG232486
- RG233581
- RR200559
- RR200559L3
- RR200559L4
- MR204173L1V
- MR204173L2V
- MR204173L3V
- MR204173L4V
- RC209435L1V
- RC209435L2V
- RC209435L3V
- RC209435L4V
- RR200559L3V
- RR200559L4V
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| 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: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP14: | - | - |
| ExUns: | 14b | ^ | 15a | · | 15b | · | 15c | · | 15d | · | 15e | · | 15f |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||
| SP2: | |||||||||||||
| SP3: | |||||||||||||
| SP4: | |||||||||||||
| SP5: | |||||||||||||
| SP6: | |||||||||||||
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| SP8: | |||||||||||||
| SP9: | |||||||||||||
| SP10: | |||||||||||||
| SP11: | |||||||||||||
| SP12: | |||||||||||||
| SP13: | - | ||||||||||||
| SP14: | - |
Relevant External Links for ELOVL5 Gene
- GeneLoc Exon Structure for
- ELOVL5
Expression for ELOVL5 Gene
This gene is overexpressed in Breast (22.2) and Liver (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELOVL5 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELOVL5
SOURCE GeneReport for Unigene cluster for ELOVL5 Gene:
Hs.520189mRNA Expression by UniProt/SwissProt for ELOVL5 Gene:
Q9NYP7-ELOV5_HUMAN
Tissue specificity:
Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. Expressed in the cerebellum.
Evidence on tissue expression from TISSUES for ELOVL5 Gene
- Nervous system(5)
- Skin(4.7)
- Liver(4.7)
- Eye(4.5)
- Kidney(3.6)
- Blood(3.4)
- Intestine(3.2)
- Heart(2.9)
- Lung(2.9)
- Spleen(2.7)
- Muscle(2.7)
- Adrenal gland(2.4)
- Lymph node(2.1)
- Thyroid gland(2.1)
- Bone marrow(2.1)
- Stomach(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ELOVL5 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- eye
- head
Limb:
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for ELOVL5
-
OriGene qPCR primer pairs and template standards for ELOVL5
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ELOVL5 Gene
Orthologs for ELOVL5 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ELOVL5 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ELOVL5 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Elovl5 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ELOVL5 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ELOVL5 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Elovl5 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ELOVL5 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ELOVL5 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ELOVL5 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | elovl5 30 |
|
||
| Str.8538 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.18919 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | elovl5 30 31 |
|
OneToOne | |
| zgc63549 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Elo68alpha 31 |
|
ManyToMany | |
| Elo68beta 31 |
|
ManyToMany | |||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR624W 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C03542g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FEN1 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G06470 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0701500 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU06694 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC1B2.03c 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
- Species where no ortholog for ELOVL5 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for ELOVL5 Gene
- ENSEMBL:
- Gene Tree for ELOVL5 (if available)
- TreeFam:
- Gene Tree for ELOVL5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ELOVL5: view image
Paralogs for ELOVL5 Gene
Variants for ELOVL5 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELOVL5 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 691282 | Benign: Spinocerebellar ataxia 38 | 53,287,885(-) | G/A | NONSENSE,INTRON_VARIANT | |
| 871261 | Uncertain Significance: not provided | 53,295,692(-) | T/C | MISSENSE_VARIANT | |
| 916283 | Uncertain Significance: not provided | 53,269,166(-) | CA/C | FRAMESHIFT_VARIANT | |
| rs3830806 | Not Provided: not provided | 53,269,306(-) | C/CACAG | INTRON_VARIANT | |
| rs41273880 | Conflicting Interpretations: not specified; not provided | 53,270,651(-) | T/C | MISSENSE_VARIANT,SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3514e59 | CNV | tandem duplication | 20981092 |
| esv2763940 | CNV | gain+loss | 21179565 |
| esv3305967 | CNV | mobile element insertion | 20981092 |
| esv3359371 | CNV | duplication | 20981092 |
| esv3390913 | CNV | insertion | 20981092 |
| esv3609024 | CNV | loss | 21293372 |
| nsv1033994 | CNV | gain | 25217958 |
| nsv1077726 | CNV | insertion | 25765185 |
| nsv1114807 | CNV | deletion | 24896259 |
| nsv1119536 | CNV | insertion | 24896259 |
| nsv1143150 | CNV | tandem duplication | 24896259 |
| nsv472566 | CNV | novel sequence insertion | 20440878 |
Residual Variation Intolerance Score:
30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.83;
17.33% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ELOVL5 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELOVL5 Gene
Disorders for ELOVL5 Gene
(7) MalaCards diseases for ELOVL5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 38 |
|
|
| intermittent squint |
|
|
| fetal akinesia deformation sequence 4 |
|
|
| fetal akinesia deformation sequence 1 |
|
|
| hereditary ataxia |
|
|
Search ELOVL5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ELOV5_HUMAN- Spinocerebellar ataxia 38 (SCA38) [MIM:615957]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy. {ECO:0000269 PubMed:25065913}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ELOVL5
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ELOVL5 Gene
Publications for ELOVL5 Gene
- ELOVL5 mutations cause spinocerebellar ataxia 38. (PMID: 25065913) Di Gregorio E … Brusco A (American journal of human genetics 2014) 2 3 4
- Cloning of a human cDNA encoding a novel enzyme involved in the elongation of long-chain polyunsaturated fatty acids. (PMID: 10970790) Leonard AE … Mukerji P (The Biochemical journal 2000) 2 3 4
- ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PMID: 20937905) Ohno Y … Kihara A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. (PMID: 20363506) Writing Committee for the Normal Tension Glaucoma Genetic Study Group of Japan Glaucoma Society … Bahram S (Ophthalmology 2010) 3 41
ExternalLinks
Products for ELOVL5 Gene
- Custom Antibody ServicesOriGene Antibodies for ELOVL5
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- MG204173
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Novus Biologicals proteins for ELOVL5
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- VectorBuilder Custom and pre-made DNA vectors for ELOVL5 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ELOVL5 (ie. lentivirus, AAV, adenovirus)
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- antibodies-online: Show 27 available ELOVL5 Antibodies ranked by validation data
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- antibodies-online: Search results for available ELOVL5 related products ranked by validation data
- antibodies-online: Search results for available ELOVL5 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for ELOVL5
- Search Santa Cruz Biotechnology (SCBT) for ELOVL5 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ELOVL5
- Horizon Cell Lines for ELOVL5
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ELOVL5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ELOVL5
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ELOVL5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELOVL5
Sources for ELOVL5 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (83) Illumina
- (84) COMPARTMENTS
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- (90) CYP
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- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
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- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
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- (104) diseasecard
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- (110) Genetics Home Reference
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- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
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- (135) abm
- (136) Human Protein Atlas
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- (138) Monarch Initiative
- (139) DataMed
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- (156) Mastermind
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- (159) GeneImprint
- (160) Synthego
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- (163) LncBase
- (164) LncBook
- (165) LNCipedia
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- (177) snoDB
- (178) MirGeneDB