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

    Gene ID: 83401, updated on 17-Jun-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
    mouse all
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    Genomic context

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    See ELOVL3 in Genome Data Viewer
    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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