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    ELOVL4 ELOVL fatty acid elongase 4 [ Homo sapiens (human) ]

    Gene ID: 6785, updated on 4-Feb-2024

    Summary

    Official Symbol
    ELOVL4provided by HGNC
    Official Full Name
    ELOVL fatty acid elongase 4provided by HGNC
    Primary source
    HGNC:HGNC:14415
    See related
    Ensembl:ENSG00000118402 MIM:605512; AllianceGenome:HGNC:14415
    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
    ADMD; CT118; ISQMR; SCA34; STGD2; STGD3
    Summary
    This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in skin (RPKM 21.8), brain (RPKM 9.7) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ELOVL4 in Genome Data Viewer
    Location:
    6q14.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (79914814..79947553, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (81123209..81155949, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (80624531..80657270, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene Neighboring gene uncharacterized LOC107986614 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:80579415-80579592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24771 Neighboring gene uncharacterized LOC124901350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17349 Neighboring gene uncharacterized LOC124901351 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 63 Neighboring gene ribosomal protein L35a pseudogene 18

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
    MedGen: C3280856 OMIM: 614457 GeneReviews: Not available
    Compare labs
    Spinocerebellar ataxia type 34
    MedGen: C1851481 OMIM: 133190 GeneReviews: Not available
    Compare labs
    Stargardt disease 3
    MedGen: C1838644 OMIM: 600110 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
    EBI GWAS Catalog
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    EBI GWAS Catalog
    Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ17667, FLJ92876

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled photoreceptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables fatty acid elongase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables fatty acid elongase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    very long chain fatty acid elongase 4
    Names
    3-keto acyl-CoA synthase ELOVL4
    ELOVL FA elongase 4
    cancer/testis antigen 118
    elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
    elongation of very long chain fatty acids protein 4
    very long chain 3-ketoacyl-CoA synthase 4
    very long chain 3-oxoacyl-CoA synthase 4
    NP_073563.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_009108.2 RefSeqGene

      Range
      5046..37785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022726.4NP_073563.1  very long chain fatty acid elongase 4

      See identical proteins and their annotated locations for NP_073563.1

      Status: REVIEWED

      Source sequence(s)
      AY037298, DA122864
      Consensus CDS
      CCDS4992.1
      UniProtKB/Swiss-Prot
      B2R6B5, Q5TCS2, Q86YJ1, Q9GZR5, Q9H139
      Related
      ENSP00000358831.4, ENST00000369816.5
      Conserved Domains (1) summary
      pfam01151
      Location:41278
      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      79914814..79947553 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      81123209..81155949 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)