InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ELOVL4

Summary

InnateDB Protein

IDBP-93493.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ELOVL4

Protein Name

ELOVL fatty acid elongase 4

Synonyms

ADMD; CT118; ISQMR; SCA34; STGD2; STGD3;

Species

Homo sapiens

Ensembl Protein

ENSP00000358831

InnateDB Gene

IDBG-93491 (ELOVL4)

Protein Structure

UniProt Annotation

Function

Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor- specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. May play a critical role in early brain and skin development. {ECO:0000269PubMed:20937905}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:16036915, ECO:0000269PubMed:20937905}; Multi- pass membrane protein {ECO:0000269PubMed:16036915, ECO:0000269PubMed:20937905}.

Disease Associations

Stargardt disease 3 (STGD3) [MIM:600110]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. Note=The disease is caused by mutations affecting the gene represented in this entry.Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR) [MIM:614457]: A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. {ECO:0000269PubMed:22100072}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates. {ECO:0000269PubMed:20937905}.

Comments

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