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

Gene ID: 83401, updated on 11-Apr-2024

Summary

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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
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Genomic context

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Location:
10q24.32
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102224767..102229589)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103109754..103114576)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (103986056..103989346)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2745 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103880011-103880762 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:103880763-103881514 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:103881515-103882264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103887116-103887946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3922 Neighboring gene LIM domain binding 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2750 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103897995-103899194 Neighboring gene PPARG related coactivator 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103911632-103912831 Neighboring gene nucleolar and coiled-body phosphoprotein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2751 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:103989615-103989783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3925 Neighboring gene paired like homeodomain 3 Neighboring gene golgi brefeldin A resistant guanine nucleotide exchange factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104029238-104029738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104029739-104030239 Neighboring gene Sharpr-MPRA regulatory region 13217 Neighboring gene Sharpr-MPRA regulatory region 15234 Neighboring gene uncharacterized LOC107984263

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. N-tail translocation in a eukaryotic polytopic membrane protein: synergy between neighboring transmembrane segments. Monné M, et al. Eur J Biochem, 1999 Jul. PMID 10429212
  2. The chromatin remodeling protein BRG1 links ELOVL3 trans-activation to prostate cancer metastasis. Yang Y, et al. Biochim Biophys Acta Gene Regul Mech, 2019 Aug. PMID 31154107
  3. ELOVL2 overexpression enhances triacylglycerol synthesis in 3T3-L1 and F442A cells. Kobayashi T, et al. FEBS Lett, 2007 Jul 10. PMID 17583696
  4. ELOVL3 is an important component for early onset of lipid recruitment in brown adipose tissue. Westerberg R, et al. J Biol Chem, 2006 Feb 24. PMID 16326704
  5. Role for ELOVL3 and fatty acid chain length in development of hair and skin function. Westerberg R, et al. J Biol Chem, 2004 Feb 13. PMID 14581464

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC21435

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; elongation of very long chain fatty acids protein 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
very long chain 3-ketoacyl-CoA synthase 3
very long chain 3-oxoacyl-CoA synthase 3
NP_689523.1
XP_011538547.1
XP_054222851.1

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.

mRNA and Protein(s)

  1. NM_152310.3 → NP_689523.1  very long chain fatty acid elongase 3

    See identical proteins and their annotated locations for NP_689523.1

    Status: REVIEWED

    Source sequence(s)
    BC034344, HY050356
    Consensus CDS
    CCDS7531.1
    UniProtKB/Swiss-Prot
    Q5VZL3, Q8N180, Q9HB03
    Related
    ENSP00000359022.3, ENST00000370005.4
    Conserved Domains (1) summary
    pfam01151
    Location:29 → 266
    ELO; GNS1/SUR4 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    102224767..102229589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540245.2 → XP_011538547.1  elongation of very long chain fatty acids protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011538547.1

    UniProtKB/Swiss-Prot
    Q5VZL3, Q8N180, Q9HB03
    Conserved Domains (1) summary
    pfam01151
    Location:29 → 266
    ELO; GNS1/SUR4 family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    103109754..103114576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366876.1 → XP_054222851.1  elongation of very long chain fatty acids protein 3 isoform X1

    UniProtKB/Swiss-Prot
    Q5VZL3, Q8N180, Q9HB03
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HB03.2 GenPept UniProtKB/Swiss-Prot:Q9HB03

Gene LinkOut

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