Version 5.4
Homo sapiens Gene: ELOVL4
Summary
InnateDB Gene IDBG-93491.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ELOVL4
Gene Name ELOVL fatty acid elongase 4
Synonyms ADMD; CT118; ISQMR; SCA34; STGD2; STGD3
Species Homo sapiens
Ensembl Gene ENSG00000118402
Encoded Proteins
IDBP-93493
ELOVL fatty acid elongase 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:79914812-79947580
Strand Reverse strand
Band q14.1
Transcripts
ENST00000369816 ENSP00000358831
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008020 G-protein coupled photoreceptor activity
GO:0016740 transferase activity
Biological Process
GO:0006633 fatty acid biosynthetic process
GO:0009584 detection of visible light
GO:0019367 fatty acid elongation, saturated fatty acid
GO:0019432 triglyceride biosynthetic process
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process
GO:0042761 very long-chain fatty acid biosynthetic process
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032262
View Gene Order
ENSBTAG00000015498
Not yet available
Pathways
NETPATH
REACTOME
REACT_380
Synthesis of very long-chain fatty acyl-CoAs pathway
REACT_1319
Fatty Acyl-CoA Biosynthesis pathway
REACT_1190
Triglyceride Biosynthesis pathway
REACT_22279
Fatty acid, triacylglycerol, and ketone body metabolism pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_111217
Metabolism pathway
KEGG
hsa00062
Fatty acid elongation pathway
INOH
PID NCI
Cross-References
SwissProt Q9GZR5
TrEMBL
UniProt Splice Variant
Entrez Gene 6785
UniGene Hs.101915 Hs.626102
RefSeq NM_022726
HUGO HGNC:14415
OMIM 605512
CCDS CCDS4992
HPRD
IMGT
EMBL AF277094 AF279649 AF279650 AF279651 AF279652 AF279653 AF279654 AK055277 AK312511 AL132875 AL133475 AY037298 BC038506 CH471051
GenPept AAG47668 AAG47669 AAH38506 AAK68639 BAB70895 BAG35412 CAI20320 CAI23374 EAW48701
RNA Seq Atlas 6785

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca