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ELOVL7 ELOVL fatty acid elongase 7 [ Homo sapiens (human) ]

Gene ID: 79993, updated on 11-Apr-2024

Summary

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Official Symbol
ELOVL7provided by HGNC
Official Full Name
ELOVL fatty acid elongase 7provided by HGNC
Primary source
HGNC:HGNC:26292
See related
Ensembl:ENSG00000164181 MIM:614451; AllianceGenome:HGNC:26292
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid; fatty acid elongation, saturated fatty acid; and very long-chain fatty acid biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in prostate (RPKM 8.7), skin (RPKM 7.9) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
5q12.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (60751791..60844269, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (61568283..61660654, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (60047618..60140096, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900982 Neighboring gene keratin 8 pseudogene 31 Neighboring gene NANOG hESC enhancer GRCh37_chr5:60065221-60065722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16042 Neighboring gene ERCC excision repair 8, CSA ubiquitin ligase complex subunit Neighboring gene G protein nucleolar 3 like pseudogene 1 Neighboring gene ERCC8 antisense RNA 1

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. ELOVL fatty acid elongase 7 (ELOVL7), upregulated by Mdr2-knockout, predicts advanced liver fibrosis in patients with chronic hepatitis B. Wang WM, et al. Eur Rev Med Pharmacol Sci, 2023 Mar. PMID 36930494
  2. The structural basis of fatty acid elongation by the ELOVL elongases. Nie L, et al. Nat Struct Mol Biol, 2021 Jun. PMID 34117479, Free PMC Article
  3. Investigating ELOVL7 coding variants in multiple system atrophy. Wernick AI, et al. Neurosci Lett, 2021 Apr 1. PMID 33600908, Free PMC Article
  4. Fatty acid elongase 7 catalyzes lipidome remodeling essential for human cytomegalovirus replication. Purdy JG, et al. Cell Rep, 2015 Mar 3. PMID 25732827, Free PMC Article
  5. Biochemical characterization of the very long-chain fatty acid elongase ELOVL7. Naganuma T, et al. FEBS Lett, 2011 Oct 20. PMID 21959040

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ELOVL fatty acid elongase 7 (ELOVL7), upregulated by Mdr2-knockout, predicts advanced liver fibrosis in patients with chronic hepatitis B.
    Title: ELOVL fatty acid elongase 7 (ELOVL7), upregulated by Mdr2-knockout, predicts advanced liver fibrosis in patients with chronic hepatitis B.
  2. The structural basis of fatty acid elongation by the ELOVL elongases.
    Title: The structural basis of fatty acid elongation by the ELOVL elongases.
  3. Investigating ELOVL7 coding variants in multiple system atrophy.
    Title: Investigating ELOVL7 coding variants in multiple system atrophy.
  4. Data show that ELOVL7, SOCS3, ACSL4 and CLU were upregulated while PRKAR1A and ABCG1 were downregulated in the phlegm-dampness group.
    Title: Gene expression signatures for phlegm-dampness constitution of Chinese medicine.
  5. ELOVL7 knockdown or mTOR inhibition impairs HCMV-induced fatty acid elongation.
    Title: Fatty acid elongase 7 catalyzes lipidome remodeling essential for human cytomegalovirus replication.
  6. progression of the VLCFA cycle enhances ELOVL7 activity.
    Title: Biochemical characterization of the very long-chain fatty acid elongase ELOVL7.
  7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  8. Overexpression of ELOVL7 is associated with prostate cancer growth through saturated long-chain fatty acid metabolism.
    Title: Novel lipogenic enzyme ELOVL7 is involved in prostate cancer growth through saturated long-chain fatty acid metabolism.
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)

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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Markers

Homology

Clone Names

  • FLJ23563

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 fatty acid elongation, monounsaturated fatty acid IBA
Inferred from Biological aspect of Ancestor
more info
  
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 long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
  
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 7; elongation of very long chain fatty acids protein 7
Names
3-keto acyl-CoA synthase ELOVL7
ELOVL FA elongase 7
ELOVL family member 7, elongation of long chain fatty acids
very long chain 3-ketoacyl-CoA synthase 7
very long chain 3-oxoacyl-CoA synthase 7
NP_001098028.1
NP_001284546.1
NP_001284547.1
NP_079206.2
XP_005248663.1
XP_006714758.1
XP_011541953.1
XP_016865377.1
XP_047273732.1
XP_047300502.1
XP_054209528.1
XP_054209529.1
XP_054209530.1
XP_054209531.1

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_001104558.2 → NP_001098028.1  very long chain fatty acid elongase 7 isoform 1

    See identical proteins and their annotated locations for NP_001098028.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AB181393, AC104113, AI769834, AL137506, DA247166
    Consensus CDS
    CCDS34164.1
    UniProtKB/Swiss-Prot
    A1L3X0, Q589T3, Q9H5D0, Q9NT66
    Related
    ENSP00000402634.1, ENST00000425382.5
    Conserved Domains (1) summary
    pfam01151
    Location:30 → 269
    ELO; GNS1/SUR4 family

  2. NM_001297617.2 → NP_001284546.1  very long chain fatty acid elongase 7 isoform 2

    See identical proteins and their annotated locations for NP_001284546.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has two additional exons in the 5' region, which results in translation initiation at an alternate start codon, compared to variant 1. The resulting isoform (2) is shorter and has an alternate N-terminus, compared to isoform 1.
    Source sequence(s)
    AB181393, AC104113, AI769834, BC094792
    Consensus CDS
    CCDS78013.1
    UniProtKB/TrEMBL
    D6RHD0
    Related
    ENSP00000421043.1, ENST00000505959.5
    Conserved Domains (1) summary
    pfam01151
    Location:17 → 256
    ELO; GNS1/SUR4 family

  3. NM_001297618.2 → NP_001284547.1  very long chain fatty acid elongase 7 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate splice site, which causes translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC104113, AI769834, AL137506, BC144257
    UniProtKB/Swiss-Prot
    A1L3X0
    Conserved Domains (1) summary
    pfam01151
    Location:4 → 182
    ELO; GNS1/SUR4 family

  4. NM_024930.3 → NP_079206.2  very long chain fatty acid elongase 7 isoform 1

    See identical proteins and their annotated locations for NP_079206.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AB181393, AC104113, AI769834, AL137506, DA247166
    Consensus CDS
    CCDS34164.1
    UniProtKB/Swiss-Prot
    A1L3X0, Q589T3, Q9H5D0, Q9NT66
    Related
    ENSP00000424123.1, ENST00000508821.6
    Conserved Domains (1) summary
    pfam01151
    Location:30 → 269
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    60751791..60844269 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714695.5 → XP_006714758.1  elongation of very long chain fatty acids protein 7 isoform X1

    See identical proteins and their annotated locations for XP_006714758.1

    UniProtKB/Swiss-Prot
    A1L3X0, Q589T3, Q9H5D0, Q9NT66
    Conserved Domains (1) summary
    pfam01151
    Location:30 → 269
    ELO; GNS1/SUR4 family

  2. XM_005248606.6 → XP_005248663.1  elongation of very long chain fatty acids protein 7 isoform X1

    See identical proteins and their annotated locations for XP_005248663.1

    UniProtKB/Swiss-Prot
    A1L3X0, Q589T3, Q9H5D0, Q9NT66
    Conserved Domains (1) summary
    pfam01151
    Location:30 → 269
    ELO; GNS1/SUR4 family

  3. XM_011543651.4 → XP_011541953.1  elongation of very long chain fatty acids protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011541953.1

    UniProtKB/Swiss-Prot
    A1L3X0, Q589T3, Q9H5D0, Q9NT66
    Conserved Domains (1) summary
    pfam01151
    Location:30 → 269
    ELO; GNS1/SUR4 family

  4. XM_047417776.1 → XP_047273732.1  elongation of very long chain fatty acids protein 7 isoform X2

    UniProtKB/TrEMBL
    D6RHD0

  5. XM_017009888.1 → XP_016865377.1  elongation of very long chain fatty acids protein 7 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    61568283..61660654 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353555.1 → XP_054209530.1  elongation of very long chain fatty acids protein 7 isoform X1

    UniProtKB/Swiss-Prot
    A1L3X0, Q589T3, Q9H5D0, Q9NT66

  2. XM_054353553.1 → XP_054209528.1  elongation of very long chain fatty acids protein 7 isoform X1

    UniProtKB/Swiss-Prot
    A1L3X0, Q589T3, Q9H5D0, Q9NT66

  3. XM_054353554.1 → XP_054209529.1  elongation of very long chain fatty acids protein 7 isoform X1

    UniProtKB/Swiss-Prot
    A1L3X0, Q589T3, Q9H5D0, Q9NT66

  4. XM_054353556.1 → XP_054209531.1  elongation of very long chain fatty acids protein 7 isoform X2

    UniProtKB/TrEMBL
    D6RHD0

  5. XM_047444546.1 → XP_047300502.1  elongation of very long chain fatty acids protein 7 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A1L3X0.1 GenPept UniProtKB/Swiss-Prot:A1L3X0

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