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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ELOVL5 Gene

protein-coding GIFtS: 56
GCID: GC06M053132

ELOVL fatty acid elongase 5

(Previous names: ELOVL family member 5, elongation of long chain fatty acids...)

Explore 9 diseases affiliated with
ELOVL5 via

MalaCards

our new
Human Malady Compendium

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

Aliases
ELOVL Fatty Acid Elongase 5¹ ² ³		Elongation Of Very Long Chain Fatty Acids Protein 5²
HELO1¹ ² ⁵		Homolog Of Yeast Long Chain Polyunsaturated Fatty Acid Elongatio²
DJ483K16.1¹		Homolog Of Yeast Long Chain Polyunsaturated Fatty Acid Elongation Enzyme 2²
ELOVL Family Member 5, Elongation Of Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3-Like, Yeast)¹ ²		EC 2.3.1.199³
Fatty Acid Elongase 1² ³		ELOVL2³
3-Keto Acyl-CoA Synthase ELOVL5² ³		HELO1¹ ² ⁵
ELOVL FA Elongase 5² ³		Very-Long-Chain 3-Oxoacyl-CoA Synthase 5³

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ELOVL5:

ELOVL5 plays a role in elongation of long-chain polyunsaturated fatty acids (Leonard et al., 2000 (PubMed

10970790)).(supplied by OMIM, Mar 2008)

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

(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_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences 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 plasmid: ELOVL5 promoter sequence

Search SABiosciences Chromatin IP Primers for ELOVL5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:	53,213,947 bp from pter
Size:	81,752 bases	Orientation:	minus 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: ELOV5_HUMAN, Q9NYP7 (See protein sequence)

Recommended Name: Elongation of very long chain fatty acids protein 5

Size: 299 amino acids; 35293 Da

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NYP7

ELOVL5 Protein expression data from MOPED and PaxDb: About this image

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
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ELOVL5

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	IDA	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016021	integral to membrane	IEA	--

ELOVL5 for ontologies About GeneDecksing

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	ThermoFisher Antibodies for ELOVL5

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	Uscn ELISAs and CLIAs for ELOVL5

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

ELOVL5 for domains About GeneDecksing

1 InterPro domain/family:

IPR002076 GNS1_SUR4

Graphical View of Domain Structure for InterPro Entry Q9NYP7

ProtoNet protein and cluster: Q9NYP7

1 Blocks protein family: IPB002076 GNS1/SUR4 membrane protein

UniProtKB/Swiss-Prot: ELOV5_HUMAN, Q9NYP7

Similarity: Belongs to the ELO 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: 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

miRNA Products:		miRTarBase miRNAs that target ELOVL5: hsa-mir-124 (MIRT001832)

		OriGene 3'-UTR Clone: ELOVL5 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ELOVL5
		8/23 QIAGEN miScript miRNA 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 plasmid: ELOVL5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ELOVL5 (see all 7) OriGene shRNA RFP: ELOVL5 OriGene siRNA: ELOVL5
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ELOVL5

Gene Editing
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DNA2.0 Custom Protein Engineering Service for ELOVL5

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		Search LifeMap BioReagents cell lines for ELOVL5

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELOVL5

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0009922	fatty acid elongase activity	IDA	--

ELOVL5 for ontologies About GeneDecksing

Animal Models:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Elovl5):

liver/biliary system

reproductive system

ELOVL5 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-pathway

contained gene-specific pathways

alpha-linolenic (omega3) and linoleic (omega6) acid metabolism

	alpha-linolenic (omega3) and linoleic (omega6) acid metabolism	1.00			Linoleic acid (LA) metabolism	0.55
	alpha-linolenic acid (ALA) metabolism	1.00

Fatty Acyl-CoA Biosynthesis

	Fatty Acyl-CoA Biosynthesis	1.00			Triglyceride Biosynthesis	0.47
	Synthesis of very long-chain fatty acyl-CoAs	0.78

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Biosynthesis of unsaturated fatty acids

Biosynthesis of unsaturated fatty acids

1.00

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

Fatty acid, triacylglycerol, and ketone body metabolism

0.52

Pathway sources
See GeneCards unified pathways
Show all pathways

5/9 Reactome Pathways for ELOVL5 (see all 9)

	Metabolism
	Synthesis of very long-chain fatty acyl-CoAs
	Triglyceride Biosynthesis
	alpha-linolenic acid (ALA) metabolism
	Fatty acid, triacylglycerol, and ketone body metabolism

1 Kegg Pathway (Kegg details for ELOVL5):

Biosynthesis of unsaturated fatty acids

ELOVL5 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ELOVL5

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

5 Interacting proteins for ELOVL5 (ENSP00000306640⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ELOVL2	ENSP00000346693⁴	STRING: ENSP00000346693
FADS1	ENSP00000322229⁴	STRING: ENSP00000322229
FADS2	ENSP00000278840⁴	STRING: ENSP00000278840
ELAVL1	ENSP00000385269⁴	STRING: ENSP00000385269
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0019432	triglyceride biosynthetic process	TAS	--
GO:0033559	unsaturated fatty acid metabolic process	TAS	--
GO:0034625	fatty acid elongation, monounsaturated fatty acid	IDA	--
GO:0034626	fatty acid elongation, polyunsaturated fatty acid	IDA	--
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	--

ELOVL5 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ELOVL5
Search CenterWatch for drugs/clinical trials and news about ELOVL5 / ELOV5

(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 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.743970 [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 Products:		OriGene 3'-UTR Clone: ELOVL5 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ELOVL5
		8/23 QIAGEN miScript miRNA 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 plasmid: ELOVL5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ELOVL5 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ELOVL5 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ELOVL5 (NM_021814)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ELOVL5
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ELOVL5 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ELOVL5

Additional cDNA 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

24/27 DOTS entries (see all 27):

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.95273689

DT.121394449 DT.121394457 DT.121394487 DT.121394516 DT.121394520 DT.121394533 DT.302159 DT.91766747

24/507 AceView cDNA sequences (see all 507):

AA609773 BG171343 AA773460 AI301162 BE465599 BP380286 BQ009375 AK097937

AL119034 BP335310 CB122024 AA372714 BP367416 AI553727 BP348627 BC074503

BE856031 F01688 BQ015256 BG120078 BP377144 BG168015 AU279960 NM_021814

GeneLoc Exon Structure

5/14 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™, 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

ELOVL5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCATCTGTTT

About this image

ELOVL5 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Pancreas

Islets of Langerhans

Mature Beta Cells

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ELOVL5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ELOVL5

SOURCE GeneReport for Unigene cluster: Hs.743970

UniProtKB/Swiss-Prot: ELOV5_HUMAN, Q9NYP7

Tissue specificity: Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung

and brain

SABiosciences Custom PCR Arrays for ELOVL5

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ELOVL5

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELOVL5

(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 animals and fungi.

Orthologs for ELOVL5 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	--	83(a)	1 ↔ 1	1(151536596-151560966)
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
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	FEN1¹	Fen1p	42.38(n) 30.86(a)		850400 NP_009963.1

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)
About This Section

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

ELOVL5 for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35189966^1,2	C	--	52970021(+)	`GTGGT-/AAAAAA`	1	--	int¹		1		NA	2
rs145022232^1,2	C,	--	53131760(+)	`GGCTG-/GTTTTTTT`	3	--	int¹		0	--	--	--	--
rs9382192^1,2	C,F,A,	--	53131918(+)	`GGTAAG/CGGGAG`	3	--	int¹		9		NA WA CSA EA	369
rs146650314^1,2		--	53132154(+)	`TTCTCC/TAGTTC`	3	--	int¹		0	--	--	--	--
rs190581187^1,2		--	53132245(+)	`AACAAC/TGTAGG`	3	--	ut3¹		0	--	--	--	--
rs183091687^1,2		--	53132252(+)	`TAGGTA/CTATCC`	3	--	ut3¹		0	--	--	--	--
rs73433434^1,2	C,	--	53132290(+)	`CACTAC/TTGAAT`	3	--	ut3¹		1		WA	2
rs3207469^1,2		--	53132313(-)	`TATTTC/TAATAC`	3	--	ut3¹ ese³		1		MN	184
rs139025292^1,2		--	53132330(+)	`GACATC/TTGCAA`	3	--	ut3¹		0	--	--	--	--
rs2273012^1,2	C,F,H,	--	53132475(+)	`TATAGT/CACGAA`	3	--	ut3¹ ese³		7		NS EA NA	746

HapMap Linkage Disequilibrium report for ELOVL5 (53132196 - 53213947 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ELOVL5: --

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(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.)
About This Section

ELOVL5 for disorders           About GeneDecksing

OMIM gene information: 611805    OMIM disorders: --

9 diseases for ELOVL5:    About MalaCards

open-angle glaucoma low tension glaucoma primary open angle glaucoma glaucoma

retinitis pigmentosa retinitis cholesterol malaria

prostatitis

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

Low tension glaucoma

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)
About This Section

PubMed articles for ELOVL5 gene, integrated from 9 sources (see all 28):
(articles sorted by number of sources associating them with ELOVL5)

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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. (2000)
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. (2005)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
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. (2001)
Genetic variation in fatty acid elongases is not assoc iated with intermediate cardiovascular phenotypes or myocardial infarction. (PubMed id 22293571)¹ Aslibekyan S....Baylin A. (2012)
Genetic variants of the FADS gene cluster and ELOVL g ene family, colostrums LC-PUFA levels, breastfeeding, and child cognition. (PubMed id 21383846)¹ Morales E....Sunyer J. (2011)
Association between SRBD1 and ELOVL5 gene polymorphis ms and primary open-angle glaucoma. (PubMed id 21508110)¹ Mabuchi F....Tsukahara S. (2011)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

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

(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

Name	Description
PharmGKB entry for ELOVL5	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ELOVL5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ELOVL5 gene:
Search GeneIP for patents involving ELOVL5

GeneCards and IP:
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ELOVL5 Gene

ELOVL fatty acid elongase 5

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ELOVL5 Gene

ELOVL fatty acid elongase 5

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