ELOVL3 ELOVL fatty acid elongase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELOVL3provided by HGNC
Official Full Name: ELOVL fatty acid elongase 3provided by HGNC
Primary source: HGNC:HGNC:18047
See related: Ensembl:ENSG00000119915 MIM:611815; AllianceGenome:HGNC:18047
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CIG30; CIG-30
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]
Expression: Biased expression in fat (RPKM 1.4), skin (RPKM 0.7) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (102224767..102229589)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (103109754..103114576)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (103986056..103989346)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Elongation of very long chain fatty acids-3 (Elovl3) is activated by ZHX2 and is a regulator of cell cycle progression.
Title: Elongation of very long chain fatty acids-3 (Elovl3) is activated by ZHX2 and is a regulator of cell cycle progression.
Study found that BRG1 expression was up-regulated along with Elvol3 in prostate cancer cells. BRG1 over-expression dose-dependently augmented the induction of the Elovl3 promoter activity, suggesting that regulation of Elovl3 expression by BRG1 occurred at the transcriptional level.
Title: The chromatin remodeling protein BRG1 links ELOVL3 trans-activation to prostate cancer metastasis.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty acid elongase activity	EXP Inferred from Experiment more info	PubMed
enables fatty acid elongase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid elongase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in alpha-linolenic acid metabolic process	TAS Traceable Author Statement more info
involved_in fatty acid elongation, monounsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, monounsaturated fatty acid	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid elongation, polyunsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, polyunsaturated fatty acid	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid elongation, saturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, saturated fatty acid	IDA Inferred from Direct Assay more info	PubMed
involved_in linoleic acid metabolic process	TAS Traceable Author Statement more info
involved_in long-chain fatty-acyl-CoA biosynthetic process	TAS Traceable Author Statement more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in sphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in unsaturated fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in very long-chain fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: very long chain fatty acid elongase 3

Names: 3-keto acyl-CoA synthase ELOVL3; ELOVL FA elongase 3; cold-inducible glycoprotein of 30 kDa; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3; elongation of very long chain fatty acids protein 3; very long chain 3-ketoacyl-CoA synthase 3; very long chain 3-oxoacyl-CoA synthase 3

NP_689523.1

EC 2.3.1.199

XP_011538547.1

EC 2.3.1.199

XP_054222851.1

EC 2.3.1.199

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.