Human Gene SLC27A4 (ENST00000300456.5_4) from GENCODE V47lift37
  Description: solute carrier family 27 member 4 (from RefSeq NM_005094.4)
Gencode Transcript: ENST00000300456.5_4
Gencode Gene: ENSG00000167114.13_8
Transcript (Including UTRs)
   Position: hg19 chr9:131,102,806-131,123,749 Size: 20,944 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr9:131,105,412-131,122,770 Size: 17,359 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:131,102,806-131,123,749)mRNA (may differ from genome)Protein (643 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S27A4_HUMAN
DESCRIPTION: RecName: Full=Long-chain fatty acid transport protein 4; Short=FATP-4; Short=Fatty acid transport protein 4; EC=6.2.1.-; AltName: Full=Solute carrier family 27 member 4;
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 (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable).
TISSUE SPECIFICITY: Expressed at highest levels in brain, testis, colon and kidney. Expressed at medium levels in heart and liver, small intestine and stomach. Expressed at low levels in peripheral leukocytes, bone marrow, skeletal muscle and aorta. Expressed in adipose tissue.
DISEASE: Defects in SLC27A4 are the cause of ichthyosis prematurity syndrome (IPS) [MIM:608649]. A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations.
MISCELLANEOUS: SLC27A4/FATP4-mediated fatty acid uptake is associated to paramaters related to insulin resistance, which is associated with disturbed fatty acid metabolism and homeostasis, such as obesity. SLC27A4/FATP4 expression is positively correlated with acquired obesity.
SIMILARITY: Belongs to the ATP-dependent AMP-binding enzyme family.
SEQUENCE CAUTION: Sequence=AAD11623.1; Type=Frameshift; Positions=362, 387, 612, 619;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC27A4
Diseases sorted by gene-association score: ichthyosis prematurity syndrome* (1701), ichthyosis (15), diffuse cutaneous mastocytosis (13), keratitis-ichthyosis-deafness syndrome (11), cutaneous mastocytosis (9), autosomal recessive congenital ichthyosis (7), osteogenesis imperfecta, type ii (6), abdominal obesity-metabolic syndrome (6), obesity (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D013749 Tetrachlorodibenzodioxin
  • C029790 2,2',3',4,4',5-hexachlorobiphenyl
  • C016403 2,4-dinitrotoluene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C023035 3,4,5,3',4'-pentachlorobiphenyl
  • C035207 4-amino-2,6-dinitrotoluene
  • D015124 8-Bromo Cyclic Adenosine Monophosphate
  • D001104 Arbutin
  • D001564 Benzo(a)pyrene
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.33 RPKM in Esophagus - Mucosa
Total median expression: 610.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -192.30318-0.605 Picture PostScript Text
3' UTR -409.70979-0.418 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020845 - AMP-binding_CS
IPR000873 - AMP-dep_Synth/Lig
IPR022272 - Lipocalin_CS

Pfam Domains:
PF00501 - AMP-binding enzyme
PF13193 - AMP-binding enzyme C-terminal domain

SCOP Domains:
56801 - Acetyl-CoA synthetase-like

ModBase Predicted Comparative 3D Structure on Q6P1M0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004467 long-chain fatty acid-CoA ligase activity
GO:0015245 fatty acid transporter activity
GO:0016874 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:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006869 lipid transport
GO:0007584 response to nutrient
GO:0008152 metabolic process
GO:0015908 fatty acid transport
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


-  Descriptions from all associated GenBank mRNAs
  HZ408867 - JP 2015528002-A/1464: CHIRAL CONTROL.
HZ460764 - WO 2015190584-A/261: Kit or device and method for detecting prostate cancer.
HZ461557 - WO 2015190586-A/370: Kit and method for detecting colon cancer.
HZ462268 - WO 2015190591-A/423: Kit and method for detecting breast cancer.
HZ463251 - WO 2015194535-A/345: Kit and method for detecting stomach cancer.
HZ463895 - WO 2015194610-A/331: Kit and method for detecting lung cancer.
HZ465315 - WO 2015194627-A/368: Kit and method for detecting esophageal cancer.
LG052201 - KR 1020150036642-A/1467: CHIRAL CONTROL.
LY496498 - KR 1020170018406-A/368: ESOPHAGEAL CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD.
LY497200 - KR 1020170016485-A/370: COLORECTAL CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD.
LY497796 - KR 1020170018409-A/331: KIT OR DEVICE FOR DETECTING LUNG CANCER, AND LUNG CANCER DETECTION METHOD.
LY499271 - KR 1020170018412-A/423: BREAST CANCER DETECTION KIT OR DEVICE, AND METHOD FOR DETECTING BREAST CANCER.
LY500064 - KR 1020170019425-A/345: STOMACH CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD.
LY500637 - KR 1020170016490-A/261: PROSTATE CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD.
LZ238749 - WO 2017171048-A/410: Kit, device and method for detecting early pancreatic cancer or precancerous lesion of pancreas.
MS869556 - Sequence 261 from Patent EP3156483.
MS880586 - Sequence 423 from Patent EP3156498.
MS884387 - Sequence 370 from Patent EP3156499.
MS885183 - Sequence 345 from Patent EP3156503.
MS994506 - Sequence 368 from Patent EP3159406.
MS996862 - Sequence 331 from Patent EP3159416.
MA806041 - WO 2018199275-A/301: Kit, device and method for detection of ovary tumor.
MA822707 - WO 2019004436-A/520: Kit, device, and method for detection of lung cancer.
LY616513 - KR 1020180129785-A/410: KIT OR DEVICE FOR DETECTING EARLY STAGE PANCREATIC CANCER OR PANCREATIC CANCER PRECURSOR LESIONS AND DETECTION METHOD THEREFOR.
MB472857 - WO 2019208671-A/256: Kit or device and method for detecting bladder cancer.
AK290222 - Homo sapiens cDNA FLJ76070 complete cds, highly similar to Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.
BC065003 - Homo sapiens solute carrier family 27 (fatty acid transporter), member 4, mRNA (cDNA clone MGC:75102 IMAGE:6023438), complete cds.
BC009959 - Homo sapiens solute carrier family 27 (fatty acid transporter), member 4, mRNA (cDNA clone IMAGE:4131025), complete cds.
AK314681 - Homo sapiens cDNA, FLJ95532.
DD153956 - New method.
DD153957 - New method.
KJ902184 - Synthetic construct Homo sapiens clone ccsbBroadEn_11578 SLC27A4 gene, encodes complete protein.
AF055899 - Homo sapiens fatty acid transport protein (FATP) mRNA, complete cds.
AK027504 - Homo sapiens cDNA FLJ14598 fis, clone NT2RM4002558, highly similar to Long-chain fatty acid transport protein 4 (EC 6.2.1.-).
AK074831 - Homo sapiens cDNA FLJ90350 fis, clone NT2RP2003210, highly similar to Long-chain fatty acid transport protein 4 (EC 6.2.1.-).
BC004268 - Homo sapiens, clone IMAGE:3613739, mRNA, partial cds.
AK000722 - Homo sapiens cDNA FLJ20715 fis, clone HUV00206, highly similar to AF055899 Homo sapiens fatty acid transport protein.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-8042 - acylceramide biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q6P1M0 (Reactome details) participates in the following event(s):

R-HSA-879585 SLC27A1,4,6 transport LCFAs from extracellular region to cytosol
R-HSA-804914 Transport of fatty acids
R-HSA-425397 Transport of vitamins, nucleosides, and related molecules
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2F7, ACSVL4 , ENST00000300456.1, ENST00000300456.2, ENST00000300456.3, ENST00000300456.4, FATP4, NM_005094, O95186, Q6P1M0, Q96G53, S27A4_HUMAN, SLC27A4 , uc317mpp.1, uc317mpp.2
UCSC ID: ENST00000300456.5_4
RefSeq Accession: NM_005094.4
Protein: Q6P1M0 (aka S27A4_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC27A4:
li-ar (Autosomal Recessive Congenital Ichthyosis)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.