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

Summary

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20461 (e-PCR)
- UniSTS:39749

A005S23 (e-PCR)
- UniSTS:39750

D9S778 (e-PCR)
- UniSTS:149404

WI-13928 (e-PCR)
- UniSTS:64164

G17286 (e-PCR)
- UniSTS:42684

SLC27A4_834 (e-PCR)
- UniSTS:277742

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 all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	IEA Inferred from Electronic Annotation 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 more info	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

EC 6.2.1.15

EC 6.2.1.3

XP_016869711.1

EC 6.2.1.15

EC 6.2.1.3

XP_024303159.1

EC 6.2.1.15

EC 6.2.1.3

XP_047278620.1

EC 6.2.1.15

EC 6.2.1.3

XP_054217791.1

EC 6.2.1.15

EC 6.2.1.3

NCBI Reference Sequences (RefSeq)

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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

NG_017057.1 RefSeqGene

Range

4968..25911

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

128340527..128361470

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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