SLC27A4 (solute carrier family 27 member 4)

Gene

• Entrez ID: 10999
• Gene name: Solute carrier family 27 member 4
• Gene symbol: SLC27A4
• Synonyms: ACSVL4, FATP4, IPS
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853131	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs137853132	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853133	T>C	Pathogenic	Coding sequence variant, missense variant
rs137853134	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853135	G>A	Pathogenic	Coding sequence variant, missense variant
rs368207076	T>G	Pathogenic	Splice donor variant
rs758657421	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs764922350	A>G	Pathogenic	Splice acceptor variant
rs765311079	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs869312967	G>A	Pathogenic	Coding sequence variant, missense variant
rs1340721389	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1588559786	G>A	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023551	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT031405	hsa-miR-16-5p	Proteomics	18668040
MIRT050385	hsa-miR-23a-3p	CLASH	23622248
MIRT518179	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT518180	hsa-miR-3170	PAR-CLIP	23446348
MIRT518181	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518182	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT518183	hsa-miR-5095	PAR-CLIP	23446348
MIRT518184	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT518185	hsa-miR-7155-5p	PAR-CLIP	23446348
MIRT518186	hsa-miR-4740-3p	PAR-CLIP	23446348
MIRT518187	hsa-miR-764	PAR-CLIP	23446348
MIRT518188	hsa-miR-552-3p	PAR-CLIP	23446348
MIRT653645	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT653646	hsa-miR-3977	HITS-CLIP	23824327
MIRT653647	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT653648	hsa-miR-103a-2-5p	HITS-CLIP	23824327
MIRT653649	hsa-miR-6824-3p	HITS-CLIP	23824327
MIRT653650	hsa-miR-6764-3p	HITS-CLIP	23824327
MIRT653651	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT653652	hsa-miR-326	HITS-CLIP	23824327
MIRT653653	hsa-miR-518c-5p	HITS-CLIP	23824327
MIRT653654	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT653655	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT653656	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT653657	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT653658	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653659	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653660	hsa-miR-3183	HITS-CLIP	23824327
MIRT653661	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT653662	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT653663	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT653664	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT763116	hsa-miR-1827	PAR-CLIP	27292025
MIRT763343	hsa-miR-1910-3p	PAR-CLIP	27292025
MIRT764136	hsa-miR-2467-3p	PAR-CLIP	27292025
MIRT765951	hsa-miR-3612	PAR-CLIP	27292025
MIRT767474	hsa-miR-377-5p	PAR-CLIP	27292025
MIRT768043	hsa-miR-4252	PAR-CLIP	27292025
MIRT768173	hsa-miR-4257	PAR-CLIP	27292025
MIRT771911	hsa-miR-4746-3p	PAR-CLIP	27292025
MIRT772357	hsa-miR-4792	PAR-CLIP	27292025
MIRT775085	hsa-miR-5694	PAR-CLIP	27292025
MIRT776709	hsa-miR-650	PAR-CLIP	27292025
MIRT776842	hsa-miR-6511a-5p	PAR-CLIP	27292025
MIRT777677	hsa-miR-6715a-3p	PAR-CLIP	27292025
MIRT777687	hsa-miR-6715b-3p	PAR-CLIP	27292025
MIRT779611	hsa-miR-6807-5p	PAR-CLIP	27292025

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001579	Process	Medium-chain fatty acid transport	IBA	21873635
GO:0001676	Process	Long-chain fatty acid metabolic process	IDA	22022213
GO:0004467	Function	Long-chain fatty acid-CoA ligase activity	IBA	21873635
GO:0004467	Function	Long-chain fatty acid-CoA ligase activity	IDA	22022213
GO:0005324	Function	Long-chain fatty acid transporter activity	IBA	21873635
GO:0005324	Function	Long-chain fatty acid transporter activity	IMP	21395585
GO:0005783	Component	Endoplasmic reticulum	IDA	32521232
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	22022213, 25603556
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005902	Component	Microvillus	IBA	21873635
GO:0006631	Process	Fatty acid metabolic process	IDA	25603556
GO:0007584	Process	Response to nutrient	IBA	21873635
GO:0015908	Process	Fatty acid transport	IMP	32521232
GO:0015909	Process	Long-chain fatty acid transport	IMP	21395585
GO:0015909	Process	Long-chain fatty acid transport	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0031957	Function	Very long-chain fatty acid-CoA ligase activity	IEA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IBA	21873635
GO:0043065	Process	Positive regulation of apoptotic process	IDA	25603556
GO:0043588	Process	Skin development	IEA
GO:0044381	Process	Glucose import in response to insulin stimulus	ISS
GO:0044539	Process	Long-chain fatty acid import into cell	IBA	21873635
GO:0044539	Process	Long-chain fatty acid import into cell	IDA	22022213
GO:0044539	Process	Long-chain fatty acid import into cell	ISS	24503477
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	25603556
GO:0047676	Function	Arachidonate-CoA ligase activity	IEA
GO:0062003	Process	Negative regulation of all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	IEA
GO:0090433	Function	Palmitoyl-CoA ligase activity	IDA	25603556
GO:0090434	Function	Oleoyl-CoA ligase activity	IDA	25603556
GO:0090434	Function	Oleoyl-CoA ligase activity	ISS
GO:0090630	Process	Activation of GTPase activity	IDA	25603556
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1990379	Process	Lipid transport across blood-brain barrier	IMP	21395585

Other IDs

• MIM: 604194
• HGNC: 10998
• e!Ensembl: ENSG00000167114

Protein

• UniProt ID: Q6P1M0
• Protein name: Long-chain fatty acid transport protein 4 (FATP-4) (Fatty acid transport protein 4) (Arachidonate--CoA ligase) (EC 6.2.1.15) (Long-chain-fatty-acid--CoA ligase) (Solute carrier family 27 member 4) (Very long-chain acyl-CoA synthetase 4) (ACSVL4) (EC 6.2.1.-)
• Protein function: Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane (PubMed:12556534, PubMed:21395585). Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs) (PubMed:24269233). 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 (By similarity). Probably involved in fatty acid transport across the blood barrier (PubMed:21395585). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00501	AMP-binding	80 → 512	AMP-binding enzyme	Family
  PF13193	AMP-binding_C	520 → 595	AMP-binding enzyme C-terminal domain	Domain

• Sequence:

  MLLGASLVGVLLFSKLVLKLPWTQVGFSLLFLYLGSGGWRFIRVFIKTIRRDIFGGLVLL
  KVKAKVRQCLQERRTVPILFASTVRRHPDKTALIFEGTDTHWTFRQLDEYSSSVANFLQA
  RGLASGDVAAIFMENRNEFVGLWLGMAKLGVEAALINTNLRRDALLHCLTTSRARALVFG
  SEMASAICEVHASLDPSLSLFCSGSWEPGAVPPSTEHLDPLLKDAPKHLPSCPDKGFTDK
  LFYIYTSGTTGLPKAAIVVHSRYYRMAALVYYGFRMRPNDIVYDCLPLYHSAGNIVGIGQ
  CLLHGMTVVIRKKFSASRFWDDCIKYNCTIVQYIGELCRYLLNQPPREAENQHQVRMALG
  NGLRQSIWTNFSSRFHIPQVAEFYGATECNCSLGNFDSQVGACGFNSRILSFVYPIRLVR
  VNEDTMELIRGPDGVCIPCQPGEPGQLVGRIIQKDPLRRFDGYLNQGANNKKIAKDVFKK
  GDQAYLTGDVLVMDELGYLYFRDRTGDTFRWKGENVSTTEVEGTLSRLLDMADVAVYGVE
  VPGTEGRAGMAAVASPTGNCDLERFAQVLEKELPLYARPIFLRLLPELHKTGTYKFQKTE
  LRKEGFDPAIVKDPLFYLDAQKGRYVPLDQEAYSRIQAGEEKL

• Sequence length: 643

Pathways

KEGG:

PPAR signaling pathway
Insulin resistance
Fat digestion and absorption

Reactome:

Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
Transport of fatty acids

Associated diseases

Disease name	Disease term	References
	Respiratory Distress Syndrome, Newborn
	Eosinophilia
	Ichthyoses
	ICHTHYOSIS PREMATURITY SYNDROME	19631310, 20815031
	Ichthyosis-prematurity syndrome