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SLC27A4 solute carrier family 27 member 4 [ Homo sapiens (human) ]

Gene ID: 10999, updated on 14-Nov-2024

Summary

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Official Symbol
SLC27A4provided by HGNC
Official Full Name
solute carrier family 27 member 4provided by HGNC
Primary source
HGNC:HGNC:10998
See related
Ensembl:ENSG00000167114 MIM:604194; AllianceGenome:HGNC:10998
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IPS; FATP4; ACSVL4
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]
Expression
Broad expression in duodenum (RPKM 32.2), small intestine (RPKM 21.2) and 24 other tissues See more
Orthologs
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Genomic context

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See SLC27A4 in Genome Data Viewer
Location:
9q34.11
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128340527..128361470)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140547613..140568573)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131102806..131123749)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20335 Neighboring gene coenzyme Q4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131095861-131096360 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131099538-131099696 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131102183-131102824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29079 Neighboring gene tRNA-Arg (anticodon TCT) 3-1 Neighboring gene TMSB4X pseudogene 4 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131126318-131127208 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131127209-131128100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131131960-131132824 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131132825-131133688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29080 Neighboring gene ubiquitin related modifier 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:131145413-131146057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131147991-131148635 Neighboring gene MIR219A2 host gene Neighboring gene microRNA 219a-2 Neighboring gene microRNA 219b

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis. Morice-Picard F, et al. Am J Med Genet A, 2010 Oct. PMID 20815031
  2. Physical Activity During Pregnancy Is Associated with Increased Placental FATP4 Protein Expression. Hutchinson KA, et al. Reprod Sci, 2020 Oct. PMID 32519158
  3. Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing. Youssef MJ, et al. Int J Dermatol, 2016 Aug. PMID 26341232
  4. Ichthyosis prematurity syndrome: a case report and review of known mutations. Kiely C, et al. Pediatr Dermatol, 2014 Jul-Aug. PMID 24889544
  5. Enhanced fatty acid oxidation and FATP4 protein expression after endurance exercise training in human skeletal muscle. Jeppesen J, et al. PLoS One, 2012. PMID 22235293, Free PMC Article

See all (115) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PLIN5 interacts with FATP4 at membrane contact sites to promote lipid droplet-to-mitochondria fatty acid transport.
    Title: PLIN5 interacts with FATP4 at membrane contact sites to promote lipid droplet-to-mitochondria fatty acid transport.
  2. SLC27A4-mediated selective uptake of mono-unsaturated fatty acids promotes ferroptosis defense in hepatocellular carcinoma.
    Title: SLC27A4-mediated selective uptake of mono-unsaturated fatty acids promotes ferroptosis defense in hepatocellular carcinoma.
  3. The positive feedback between ACSL4 expression and O-GlcNAcylation contributes to the growth and survival of hepatocellular carcinoma.
    Title: The positive feedback between ACSL4 expression and O-GlcNAcylation contributes to the growth and survival of hepatocellular carcinoma.
  4. Physical Activity During Pregnancy Is Associated with Increased Placental FATP4 Protein Expression.
    Title: Physical Activity During Pregnancy Is Associated with Increased Placental FATP4 Protein Expression.
  5. Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.
    Title: Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.
  6. High FATP4 expression was associated with poor prognosis in clear cell renal cell carcinoma.
    Title: High Membranous Expression of Fatty Acid Transport Protein 4 Is Associated with Tumorigenesis and Tumor Progression in Clear Cell Renal Cell Carcinoma.
  7. high SLC27A4 is associated with tumor progression in breast cancer cells.
    Title: Solute Carrier Family 27 Member 4 (SLC27A4) Enhances Cell Growth, Migration, and Invasion in Breast Cancer Cells.
  8. Case Report: ichthyosis prematurity syndrome caused by novel homozygous mutation in SLC27A4.
    Title: Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.
  9. SLC27A4 gene mutation is responsible in the diagnosis of ichthyosis prematurity syndrome in a premature infant.
    Title: Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing.
  10. expand the mutational repertory of FATP4 with three undescribed pathogenic mutations in two families
    Title: Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Ichthyosis prematurity syndrome
MedGen: C1837610 OMIM: 608649 GeneReviews: Autosomal Recessive Congenital Ichthyosis
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables arachidonate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables fatty acid transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables long-chain fatty acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables long-chain fatty acid transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables oleate transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables oleoyl-CoA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oleoyl-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables oleoyl-CoA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables palmitoyl-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables very long-chain fatty acid-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within activation of GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glucose import in response to insulin stimulus ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lipid transport across blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in long-chain fatty acid import into cell IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in long-chain fatty acid import into cell IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in long-chain fatty acid import into cell ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in long-chain fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in long-chain fatty acid transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in long-chain fatty acid transport TAS
Traceable Author Statement
more info
  
involved_in medium-chain fatty acid transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to nutrient IEA
Inferred from Electronic Annotation
more info
  
involved_in skin development IEA
Inferred from Electronic Annotation
more info
  
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in very long-chain fatty acid catabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in brush border membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in microvillus IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
long-chain fatty acid transport protein 4
Names
acyl-CoA synthetase very long chain family member 4
arachidonate--CoA ligase
long-chain-fatty-acid--CoA ligase
solute carrier family 27 (fatty acid transporter), member 4
very long-chain acyl-CoA synthetase 4
NP_005085.2
XP_016869711.1
XP_024303159.1
XP_047278620.1
XP_054217791.1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017057.1 RefSeqGene

    Range
    4968..25911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005094.4 → NP_005085.2  long-chain fatty acid transport protein 4

    See identical proteins and their annotated locations for NP_005085.2

    Status: REVIEWED

    Source sequence(s)
    AA350218, AI478495, AK290222, AL359091, BC065003, H16504
    Consensus CDS
    CCDS6899.1
    UniProtKB/Swiss-Prot
    A8K2F7, O95186, Q6P1M0, Q96G53
    Related
    ENSP00000300456.3, ENST00000300456.5
    Conserved Domains (1) summary
    cd05939
    Location:99 → 608
    hsFATP4_like; Fatty acid transport proteins (FATP), including FATP4 and FATP1, and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    128340527..128361470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447391.2 → XP_024303159.1  long-chain fatty acid transport protein 4 isoform X2

    UniProtKB/Swiss-Prot
    A8K2F7, O95186, Q6P1M0, Q96G53
    Conserved Domains (1) summary
    cd05939
    Location:99 → 608
    hsFATP4_like; Fatty acid transport proteins (FATP), including FATP4 and FATP1, and similar proteins

  2. XM_017014222.2 → XP_016869711.1  long-chain fatty acid transport protein 4 isoform X2

    UniProtKB/Swiss-Prot
    A8K2F7, O95186, Q6P1M0, Q96G53
    Conserved Domains (1) summary
    cd05939
    Location:99 → 608
    hsFATP4_like; Fatty acid transport proteins (FATP), including FATP4 and FATP1, and similar proteins

  3. XM_047422664.1 → XP_047278620.1  long-chain fatty acid transport protein 4 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    140547613..140568573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361816.1 → XP_054217791.1  long-chain fatty acid transport protein 4 isoform X2

    UniProtKB/Swiss-Prot
    A8K2F7, O95186, Q6P1M0, Q96G53
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P1M0.1 GenPept UniProtKB/Swiss-Prot:Q6P1M0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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