SLC27A4
Long-chain fatty acid transport protein 4
Also known as: ACSVL4, FATP4, S27A4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6P1M0
- Gene
- SLC27A4
- Ensembl
- ENSG00000167114
- Chromosome
- 9
- Canonical length
- 643 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Vesicles
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
643 residues, UniProt reviewed canonical sequence.
>Q6P1M0|SLC27A4
1 MLLGASLVGV LLFSKLVLKL PWTQVGFSLL FLYLGSGGWR FIRVFIKTIR RDIFGGLVLL
61 KVKAKVRQCL QERRTVPILF ASTVRRHPDK TALIFEGTDT HWTFRQLDEY SSSVANFLQA
121 RGLASGDVAA IFMENRNEFV GLWLGMAKLG VEAALINTNL RRDALLHCLT TSRARALVFG
181 SEMASAICEV HASLDPSLSL FCSGSWEPGA VPPSTEHLDP LLKDAPKHLP SCPDKGFTDK
241 LFYIYTSGTT GLPKAAIVVH SRYYRMAALV YYGFRMRPND IVYDCLPLYH SAGNIVGIGQ
301 CLLHGMTVVI RKKFSASRFW DDCIKYNCTI VQYIGELCRY LLNQPPREAE NQHQVRMALG
361 NGLRQSIWTN FSSRFHIPQV AEFYGATECN CSLGNFDSQV GACGFNSRIL SFVYPIRLVR
421 VNEDTMELIR GPDGVCIPCQ PGEPGQLVGR IIQKDPLRRF DGYLNQGANN KKIAKDVFKK
481 GDQAYLTGDV LVMDELGYLY FRDRTGDTFR WKGENVSTTE VEGTLSRLLD MADVAVYGVE
541 VPGTEGRAGM AAVASPTGNC DLERFAQVLE KELPLYARPI FLRLLPELHK TGTYKFQKTE
601 LRKEGFDPAI VKDPLFYLDA QKGRYVPLDQ EAYSRIQAGE EKLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC27A4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.23
- Highest tissue expression
- 63 nTPM
Expression across tissuesHPA
Tissue
- duodenum: 63 nTPM
- esophagus: 59 nTPM
- skin: 39 nTPM
- small intestine: 39 nTPM
- liver: 39 nTPM
- cerebral cortex: 33 nTPM
Single-cell type
- colonocytes: 572 nCPM
- foveolar cells: 392 nCPM
- enterocytes: 314 nCPM
- gastric chief cells: 310 nCPM
- goblet cells: 278 nCPM
- parietal cells: 272 nCPM
Immune cell
- gdT-cell: 4.7 nTPM
- myeloid DC: 4.4 nTPM
- non-classical monocyte: 4.4 nTPM
- plasmacytoid DC: 4 nTPM
- memory CD8 T-cell: 3.6 nTPM
- MAIT T-cell: 3.4 nTPM
Brain region
- cerebral cortex: 56 nTPM
- pons: 54 nTPM
- medulla oblongata: 50 nTPM
- thalamus: 49 nTPM
- hypothalamus: 47 nTPM
- cerebellum: 46 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC27A4.
Disease | AllUniProt
Conditions SLC27A4 is implicated in, by any mechanism.
- Ichthyosis prematurity syndrome (IPS) MIM:608649
Disease | GeneticClinVar
51 pathogenic / likely-pathogenic of 550 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Ichthyosis prematurity syndrome
- Lamellar ichthyosis
- Inborn genetic diseases
- Autosomal recessive congenital ichthyosis
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.7
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.23
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- establishment of localization in cell
- fatty acid metabolic process
- fatty acid transport
- glucose import in response to insulin stimulus
- lipid transport across blood-brain barrier
- long-chain fatty acid import into cell
- long-chain fatty acid metabolic process
- long-chain fatty acid transport
- medium-chain fatty acid transport
- negative regulation of insulin receptor signaling pathway
- positive regulation of apoptotic process
- response to nutrient
- skin development
- transport across blood-brain barrier
- very long-chain fatty acid catabolic process
Molecular functions
- arachidonate-CoA ligase activity
- fatty acid transmembrane transporter activity
- long-chain fatty acid transmembrane transporter activity
- long-chain fatty acid-CoA ligase activity
- nucleotide binding
- oleoyl-CoA ligase activity
- palmitoyl-CoA ligase activity
- very long-chain fatty acid-CoA ligase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC27A4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC27A4 as an antibody target. Whether an autoantibody or antibody against SLC27A4 could matter depends on whether native SLC27A4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC27A4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SLC27A4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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