Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	83401
Gene name	ELOVL fatty acid elongase 3
Gene symbol	ELOVL3
Synonyms (NCBI Gene)	CIG-30CIG30
Chromosome	10
Chromosome location	10q24.32
Summary	This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]

Show/Hide all (5)

miRTarBase ID	miRNA	Experiments
MIRT961241	hsa-miR-3620	CLIP-seq
MIRT961242	hsa-miR-3974	CLIP-seq
MIRT961243	hsa-miR-4733-5p	CLIP-seq
MIRT1984882	hsa-miR-451b	CLIP-seq
MIRT2219733	hsa-miR-2861	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20937905, 38422897
GO:0005783	Component	Endoplasmic reticulum	IDA	20937905
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0009922	Function	Fatty acid elongase activity	EXP	10970790
GO:0009922	Function	Fatty acid elongase activity	IBA
GO:0009922	Function	Fatty acid elongase activity	IEA
GO:0009922	Function	Fatty acid elongase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IBA
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IDA	20937905
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IBA
GO:0030497	Process	Fatty acid elongation	IEA
GO:0034625	Process	Fatty acid elongation, monounsaturated fatty acid	IBA
GO:0034625	Process	Fatty acid elongation, monounsaturated fatty acid	IDA	20937905
GO:0034625	Process	Fatty acid elongation, monounsaturated fatty acid	IEA
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	IBA
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	IDA	20937905
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	IEA
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	IEA
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	TAS
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IBA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IDA	20937905
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IEA
GO:0043651	Process	Linoleic acid metabolic process	TAS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	16326704

MIM	HGNC	e!Ensembl
611815	18047	ENSG00000119915

Q9HB03

Protein name

Very long chain fatty acid elongase 3 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL3) (Cold-inducible glycoprotein of 30 kDa) (ELOVL fatty acid elongase 3) (ELOVL FA elongase 3) (Elongation of very long chain fatty acids protein 3) (Very long chain 3-ket

Protein 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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01151	ELO	29 → 266	GNS1/SUR4 family	Family

Tissue specificity

TISSUE SPECIFICITY: Testis. {ECO:0000269|PubMed:20937905}.

Sequence

MVTAMNVSHEVNQLFQPYNFELSKDMRPFFEEYWATSFPIALIYLVLIAVGQNYMKERKG
FNLQGPLILWSFCLAIFSILGAVRMWGIMGTVLLTGGLKQTVCFINFIDNSTVKFWSWVF
LLSKVIELGDTAFIILRKRPLIFIHWYHHSTVLVYTSFGYKNKVPAGGWFVTMNFGVHAI
MYTYYTLKAANVKPPKMLPMLITSLQILQMFVGAIVSILTYIWRQDQGCHTTMEHLFWSF
ILYMTYFILFAHFFCQTYIRPKVKAKTKSQ

Sequence length

270

Interactions

View interactions

	KEGG		Reactome
	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism		Linoleic acid (LA) metabolism alpha-linolenic acid (ALA) metabolism Synthesis of very long-chain fatty acyl-CoAs

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Inhibit	32639640	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Associate	38186579	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	38186579	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Associate	29803800	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Associate	36189312	★★★★★ ★☆☆☆☆ Found in Text Mining only

ELOVL3 (ELOVL fatty acid elongase 3)