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

    Gene ID: 79993, updated on 10-Dec-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, Dec 2024]
    Expression
    Broad expression in prostate (RPKM 8.7), skin (RPKM 7.9) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ELOVL7 in Genome Data Viewer
    Location:
    5q12.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (60751791..60844269, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (61568283..61660654, complement)
    RS_2024_09 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. 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
    2. Investigating ELOVL7 coding variants in multiple system atrophy. Wernick AI, et al. Neurosci Lett, 2021 Apr 1. PMID 33600908, Free PMC Article
    3. 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
    4. 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
    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)

    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
    Names
    3-keto acyl-CoA synthase ELOVL7
    ELOVL FA elongase 7
    ELOVL family member 7, elongation of long chain fatty acids
    elongation of very long chain fatty acids protein 7
    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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    NEW Try the new Transcript table

    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_2024_08

    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  very long chain fatty acid elongase 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  very long chain fatty acid elongase 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  very long chain fatty acid elongase 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  very long chain fatty acid elongase 7 isoform X2

      UniProtKB/TrEMBL
      D6RHD0

    5. XM_017009888.1 → XP_016865377.1  very long chain fatty acid elongase 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  very long chain fatty acid elongase 7 isoform X1

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

    2. XM_054353553.1 → XP_054209528.1  very long chain fatty acid elongase 7 isoform X1

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

    3. XM_054353554.1 → XP_054209529.1  very long chain fatty acid elongase 7 isoform X1

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

    4. XM_054353556.1 → XP_054209531.1  very long chain fatty acid elongase 7 isoform X2

      UniProtKB/TrEMBL
      D6RHD0

    5. XM_047444546.1 → XP_047300502.1  very long chain fatty acid elongase 7 isoform X3

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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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