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

Gene ID: 6785, updated on 1-Aug-2020

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
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

Genomic context

See ELOVL4 in Genome Data Viewer
Location:
6q14.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (79914814..79947553, 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 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
Ichthyosis, spastic quadriplegia, and mental retardation
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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
fatty acid elongase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
very-long-chain 3-ketoacyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
fatty acid elongation, polyunsaturated fatty acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid elongation, polyunsaturated fatty acid ISS
Inferred from Sequence or Structural Similarity
more info
 
fatty acid elongation, saturated fatty acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
unsaturated fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
very long-chain fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
NP_073563.1

NCBI Reference Sequences (RefSeq)

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  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
    ENSP00000358831.4, ENST00000369816.5
    Conserved Domains (1) summary
    pfam01151
    Location:41278
    ELO; GNS1/SUR4 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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