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

    Gene ID: 6785, updated on 13-Aug-2016
    Official Symbol
    ELOVL4provided by HGNC
    Official Full Name
    ELOVL fatty acid elongase 4provided by HGNC
    Primary source
    HGNC:HGNC:14415
    See related
    Ensembl:ENSG00000118402 HPRD:05697; MIM:605512; Vega:OTTHUMG00000015087
    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]
    Orthologs
    Location:
    6q14
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (79914812..79947598, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (80624529..80657315, 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 uncharacterized LOC107986615 Neighboring gene uncharacterized LOC107986616 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 63 Neighboring gene ribosomal protein L35a pseudogene 18

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Clone Names

    • FLJ17667, FLJ92876

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-oxo-arachidoyl-CoA synthase activity IEA
    Inferred from Electronic Annotation
    more info
     
    3-oxo-cerotoyl-CoA synthase activity IEA
    Inferred from Electronic Annotation
    more info
     
    3-oxo-lignoceronyl-CoA synthase activity IEA
    Inferred from Electronic Annotation
    more info
     
    G-protein coupled photoreceptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    fatty acid elongase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    detection of visible light IEA
    Inferred from Electronic Annotation
    more info
     
    fatty acid biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    fatty acid elongation, monounsaturated fatty acid IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    fatty acid elongation, polyunsaturated fatty acid IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    fatty acid elongation, saturated fatty acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    long-chain fatty-acyl-CoA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    sphingolipid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    unsaturated fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    very long-chain fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    very long-chain fatty acid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    elongation of very long chain fatty acids protein 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
    very long chain 3-ketoacyl-CoA synthase 4
    very long chain 3-oxoacyl-CoA synthase 4
    very-long-chain 3-oxoacyl-CoA synthase 4
    NP_073563.1

    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_009108.1 RefSeqGene

      Range
      5001..37787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022726.3NP_073563.1  elongation of very long chain fatty acids protein 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
      Q9GZR5
      Related
      ENSP00000358831, OTTHUMP00000016776, ENST00000369816, OTTHUMT00000041315
      Conserved Domains (1) summary
      pfam01151
      Location:41278
      ELO; GNS1/SUR4 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      79914812..79947598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      80722020..80754791 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)