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 c... See more...

Aliases for SLC27A4 Gene

Aliases for SLC27A4 Gene

  • Solute Carrier Family 27 Member 4 2 3 4 5
  • ACSVL4 2 3 4
  • FATP4 2 3 4
  • Solute Carrier Family 27 (Fatty Acid Transporter), Member 4 2 3
  • Long-Chain Fatty Acid Transport Protein 4 3 4
  • Very Long-Chain Acyl-CoA Synthetase 4 3 4
  • Long-Chain-Fatty-Acid--CoA Ligase 3 4
  • Arachidonate--CoA Ligase 3 4
  • Fatty Acid Transport Protein 4 4
  • EC 6.2.1.15 4
  • EC 6.2.1.7 50
  • EC 6.2.1.- 4
  • EC 6.2.1 50
  • SLC27A4 5
  • FATP-4 4
  • IPS 3

External Ids for SLC27A4 Gene

Previous GeneCards Identifiers for SLC27A4 Gene

  • GC09P122217
  • GC09P122749
  • GC09P124556
  • GC09P126478
  • GC09P128182
  • GC09P130142
  • GC09P131102
  • GC09P100716

Summaries for SLC27A4 Gene

Entrez Gene Summary for SLC27A4 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]

GeneCards Summary for SLC27A4 Gene

SLC27A4 (Solute Carrier Family 27 Member 4) is a Protein Coding gene. Diseases associated with SLC27A4 include Ichthyosis Prematurity Syndrome and Ichthyosis. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Insulin resistance. Gene Ontology (GO) annotations related to this gene include nucleotide binding and very long-chain fatty acid-CoA ligase activity. An important paralog of this gene is SLC27A1.

UniProtKB/Swiss-Prot Summary for SLC27A4 Gene

  • 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).

Gene Wiki entry for SLC27A4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC27A4 Gene

Genomics for SLC27A4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC27A4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC27A4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC27A4

Top Transcription factor binding sites by QIAGEN in the SLC27A4 gene promoter:
  • AML1a
  • C/EBPalpha
  • GCNF
  • GCNF-1
  • Olf-1
  • p300
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for SLC27A4 Gene

Latest Assembly
chr9:128,340,516-128,361,470
(GRCh38/hg38)
Size:
20,955 bases
Orientation:
Plus strand

Previous Assembly
chr9:131,102,806-131,123,749
(GRCh37/hg19 by Entrez Gene)
Size:
20,944 bases
Orientation:
Plus strand

chr9:131,102,925-131,123,749
(GRCh37/hg19 by Ensembl)
Size:
20,825 bases
Orientation:
Plus strand

Genomic View for SLC27A4 Gene

Genes around SLC27A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC27A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC27A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC27A4 Gene

Proteins for SLC27A4 Gene

  • Protein details for SLC27A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1M0-S27A4_HUMAN
    Recommended name:
    Long-chain fatty acid transport protein 4
    Protein Accession:
    Q6P1M0
    Secondary Accessions:
    • A8K2F7
    • O95186
    • Q96G53

    Protein attributes for SLC27A4 Gene

    Size:
    643 amino acids
    Molecular mass:
    72064 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD11623.1; Type=Frameshift; Evidence={ECO:0000305};
    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.

    Alternative splice isoforms for SLC27A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC27A4 Gene

Selected DME Specific Peptides for SLC27A4 Gene

Q6P1M0:
  • LLFSKLVLKLPWTQVGFSLL
  • LYLGSGGWRFIRVFIKT
  • DPLRRFDGY
  • GDVLVMDELGY
  • CIPCQPG
  • LVYYGFRMRP
  • YDCLPLYHSAGNI
  • RKKFSASRFWDDC
  • GENVSTTEVE
  • EGRAGMAA
  • TSGTTGLPKA
  • VHSRYYR
  • KELPLYARPIFLR
  • LSLFCSGSWEP
  • GRYVPLD
  • QYIGELCRYL
  • EFYGATECNCS
  • PGQLVGRIIQ
  • RWKGENV
  • EFVGLWLG
  • VRMALGNGLRQSIWT

Post-translational modifications for SLC27A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC27A4 Gene

Protein products for research

  • Novus Biologicals proteins for SLC27A4

Domains & Families for SLC27A4 Gene

Gene Families for SLC27A4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC27A4 Gene

Suggested Antigen Peptide Sequences for SLC27A4 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 27 member 4 (S27A4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P1M0

UniProtKB/Swiss-Prot:

S27A4_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with SLC27A4: view

Function for SLC27A4 Gene

Molecular function for SLC27A4 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z,12Z)-octadecadienoate(out) = (9Z,12Z)-octadecadienoate(in); Xref=Rhea:RHEA:45264, ChEBI:CHEBI:30245; Evidence={ECO:0000269|PubMed:12556534, ECO:0000269|PubMed:21395585};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoate(out) = (9Z)-octadecenoate(in); Xref=Rhea:RHEA:33655, ChEBI:CHEBI:30823; Evidence={ECO:0000269|PubMed:12556534};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecanoate(out) = hexadecanoate(in); Xref=Rhea:RHEA:45256, ChEBI:CHEBI:7896; Evidence={ECO:0000269|PubMed:12556534};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + hexadecanoate = AMP + diphosphate + hexadecanoyl-CoA; Xref=Rhea:RHEA:30751, ChEBI:CHEBI:7896, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:24269233};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(E)-hexadec-2-enoate + ATP + CoA = (2E)-hexadecenoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:36139, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:61526, ChEBI:CHEBI:72745, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:24269233};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:19713, ChEBI:CHEBI:30616, ChEBI:CHEBI:32395, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:456215; EC=6.2.1.15; Evidence={ECO:0000250|UniProtKB:Q91VE0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + tetracosanoate = AMP + diphosphate + tetracosanoyl-CoA; Xref=Rhea:RHEA:33639, ChEBI:CHEBI:30616, ChEBI:CHEBI:31014, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:65052, ChEBI:CHEBI:456215; Evidence={ECO:0000250|UniProtKB:Q91VE0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoate + ATP + CoA = (9Z)-octadecenoyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:33607, ChEBI:CHEBI:30616, ChEBI:CHEBI:30823, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:456215; Evidence={ECO:0000250|UniProtKB:Q91VE0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a fatty acid(in) = a fatty acid(out); Xref=Rhea:RHEA:38879, ChEBI:CHEBI:28868; Evidence={ECO:0000250|UniProtKB:Q91VE0};.

Enzyme Numbers (IUBMB) for SLC27A4 Gene

Phenotypes From GWAS Catalog for SLC27A4 Gene

Gene Ontology (GO) - Molecular Function for SLC27A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004467 long-chain fatty acid-CoA ligase activity IBA,IDA 22022213
GO:0005324 long-chain fatty acid transporter activity IMP 21395585
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with SLC27A4: view
genes like me logo Genes that share phenotypes with SLC27A4: view

Human Phenotype Ontology for SLC27A4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC27A4 Gene

MGI Knock Outs for SLC27A4:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC27A4

No data available for Transcription Factor Targets and HOMER Transcription for SLC27A4 Gene

Localization for SLC27A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC27A4 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC27A4 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC27A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane IBA,IDA 22022213
GO:0005886 plasma membrane TAS --
GO:0005902 microvillus IBA 21873635
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with SLC27A4: view

Pathways & Interactions for SLC27A4 Gene

genes like me logo Genes that share pathways with SLC27A4: view

Gene Ontology (GO) - Biological Process for SLC27A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IEA --
GO:0001579 medium-chain fatty acid transport IBA 21873635
GO:0001676 long-chain fatty acid metabolic process IDA 22022213
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IDA 25603556
genes like me logo Genes that share ontologies with SLC27A4: view

No data available for SIGNOR curated interactions for SLC27A4 Gene

Drugs & Compounds for SLC27A4 Gene

(7) Drugs for SLC27A4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma 27
Stearic acid Approved, Experimental Pharma 0
arachidonic acid Experimental Pharma 41
Hexanoyl-CoA Experimental Pharma 0
Myristic acid Experimental Pharma 0

(35) Additional Compounds for SLC27A4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • Dodecenoyl-CoA
  • Dodecenoyl+2-dodecenoyl, (e)-isomer
  • Dodecenoyl-coenzyme A
  • Dodecenoyl+2-dodecenoyl
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with SLC27A4: view

Transcripts for SLC27A4 Gene

mRNA/cDNA for SLC27A4 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC27A4

Alternative Splicing Database (ASD) splice patterns (SP) for SLC27A4 Gene

No ASD Table

Relevant External Links for SLC27A4 Gene

GeneLoc Exon Structure for
SLC27A4

Expression for SLC27A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC27A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC27A4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.1), Lung (15.5), and Cervix (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC27A4 Gene



Protein tissue co-expression partners for SLC27A4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC27A4

SOURCE GeneReport for Unigene cluster for SLC27A4 Gene:

Hs.656699

mRNA Expression by UniProt/SwissProt for SLC27A4 Gene:

Q6P1M0-S27A4_HUMAN
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 (PubMed:24269233, PubMed:9878842). Expressed in brain gray matter (PubMed:21395585).

Evidence on tissue expression from TISSUES for SLC27A4 Gene

  • Nervous system(4.6)
  • Heart(4.4)
  • Lung(4.3)
  • Intestine(2.4)
  • Blood(2.4)
  • Liver(2.4)
  • Skin(2.3)
  • Muscle(2.3)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC27A4 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • reproductive
Regions:
General:
  • skin
genes like me logo Genes that share expression patterns with SLC27A4: view

Primer products for research

No data available for mRNA differential expression in normal tissues for SLC27A4 Gene

Orthologs for SLC27A4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC27A4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC27A4 29 30
  • 99.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC27A4 29 30
  • 88.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC27A4 29 30
  • 87.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc27a4 29 16 30
  • 87.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc27a4 29
  • 87.61 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC27A4 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC27A4 29 30
  • 70.09 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC27A4 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc27a4 29
  • 69.1 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc27a4 29 30
  • 67.91 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001763 29
  • 56.77 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Fatp 29 30 31
  • 55.79 (n)
ManyToMany
CG30194 30 31
  • 40 (a)
ManyToMany
CG3394 30 31
  • 38 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea acs-20 29 30
  • 48.48 (n)
ManyToMany
F28D1.9 31
  • 40 (a)
acs-22 30
  • 39 (a)
ManyToMany
D1009.1a 31
  • 39 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAT1 30
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9398 30
  • 43 (a)
OneToMany
Species where no ortholog for SLC27A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC27A4 Gene

ENSEMBL:
Gene Tree for SLC27A4 (if available)
TreeFam:
Gene Tree for SLC27A4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC27A4: view image
Alliance of Genome Resources:
Additional Orthologs for SLC27A4

Paralogs for SLC27A4 Gene

(6) SIMAP similar genes for SLC27A4 Gene using alignment to 2 proteins:

  • S27A4_HUMAN
  • Q96G53_HUMAN
genes like me logo Genes that share paralogs with SLC27A4: view

Variants for SLC27A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC27A4 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
872094 Pathogenic: not provided 128,353,427(+) GGTTTC/G
NM_005094.4(SLC27A4):c.1211_1215del (p.Gly404fs)
FRAMESHIFT
978727 Likely Pathogenic: Ichthyosis prematurity syndrome 128,355,446(+) G/T
NM_005094.4(SLC27A4):c.1511G>T (p.Arg504Leu)
MISSENSE
rs111417655 Not Provided: Ichthyosis prematurity syndrome 128,353,089(+) A/G
NM_005094.4(SLC27A4):c.1052A>G (p.Asn351Ser)
MISSENSE
rs1340721389 Pathogenic: not provided 128,355,175(+) C/T
NM_005094.4(SLC27A4):c.1447C>T (p.Gln483Ter)
NONSENSE
rs137853131 Pathogenic: Ichthyosis prematurity syndrome 128,345,497(+) C/A
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC27A4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC27A4 Gene

Variant ID Type Subtype PubMed ID
esv2660941 CNV deletion 23128226
esv2739070 CNV deletion 23290073
esv3545486 CNV deletion 23714750
nsv415888 CNV insertion 16902084
nsv831728 CNV loss 17160897
nsv972453 CNV duplication 23825009

Variation tolerance for SLC27A4 Gene

Residual Variation Intolerance Score: 7.35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC27A4 Gene

Human Gene Mutation Database (HGMD)
SLC27A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC27A4
Leiden Open Variation Database (LOVD)
SLC27A4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC27A4 Gene

Disorders for SLC27A4 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SLC27A4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S27A4_HUMAN
  • 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. {ECO:0000269 PubMed:19631310, ECO:0000269 PubMed:20815031}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SLC27A4

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Publications for SLC27A4 Gene

  1. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. (PMID: 19631310) Klar J … Fischer J (American journal of human genetics 2009) 3 4 22 72
  2. Genetic and structural evaluation of fatty acid transport protein-4 in relation to markers of the insulin resistance syndrome. (PMID: 14715877) Gertow K … Fisher RM (The Journal of clinical endocrinology and metabolism 2004) 3 4 22 40
  3. Tissue distribution and cDNA cloning of a human fatty acid transport protein (hsFATP4). (PMID: 9878842) Fitscher BA … Stremmel W (Biochimica et biophysica acta 1998) 2 3 4
  4. Fatty acid transport protein expression in human brain and potential role in fatty acid transport across human brain microvessel endothelial cells. (PMID: 21395585) Mitchell RW … Hatch GM (Journal of neurochemistry 2011) 3 4
  5. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 40

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