InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Slc27a4

Summary

InnateDB Protein

IDBP-154492.6

Last Modified

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

Gene Symbol

Slc27a4

Protein Name

solute carrier family 27 (fatty acid transporter), member 4

Synonyms

BB144259; FATP4;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000078971

InnateDB Gene

IDBG-154490 (Slc27a4)

Protein Structure

UniProt Annotation

Function

Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones. {ECO:0000269PubMed:10518211, ECO:0000269PubMed:11404000, ECO:0000269PubMed:12821645, ECO:0000269PubMed:15653672, ECO:0000269PubMed:15699031, ECO:0000269PubMed:23407971}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane.

Disease Associations

Note=Defects in Slc27a4 are the cause of wrinkle-free (wrfr) phenotype. It is a spontaneous, autosomal recessive mutation resulting in very tight, thick skin and is secondary characterized by severe breathing difficulties. Mice die shortly after birth. This phenotype is similar to human restrictive dermopathy, a very rare human genetic disorder. {ECO:0000269PubMed:12697906}.

Tissue Specificity

Most abundantly expressed in small intestine, brain, kidney, liver, skin and heart. In small intestine, expressed at high levels on the apical side of mature enterocytes. Highly expressed by the epithelial cells of the visceral endoderm and localized to the brush-border membrane of extraembryonic endodermal cells (at protein level). Expressed in the retinal pigment epithelium and in the retina (at protein level). Expressed in the retinal pigment epithelium and in the retina. {ECO:0000269PubMed:10518211, ECO:0000269PubMed:11404000, ECO:0000269PubMed:14512415, ECO:0000269PubMed:23407971, ECO:0000269PubMed:9671728}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	0
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003824	catalytic activity
GO:0004467	long-chain fatty acid-CoA ligase activity
GO:0031957	very long-chain fatty acid-CoA ligase activity

Biological Process

GO:0000038	very long-chain fatty acid metabolic process
GO:0001579	medium-chain fatty acid transport
GO:0001676	long-chain fatty acid metabolic process
GO:0006631	fatty acid metabolic process
GO:0007584	response to nutrient
GO:0008152	metabolic process
GO:0015909	long-chain fatty acid transport
GO:0042760	very long-chain fatty acid catabolic process
GO:0043588	skin development
GO:0044539	long-chain fatty acid import

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005886	plasma membrane
GO:0005902	microvillus
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031526	brush border membrane