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Aliases for SLC27A4 Gene

Aliases for SLC27A4 Gene

  • Solute Carrier Family 27 Member 4 2 3 4
  • Solute Carrier Family 27 (Fatty Acid Transporter), Member 4 2 3 5
  • ACSVL4 3 4
  • FATP4 3 4
  • Fatty Acid Transport Protein 4 4
  • EC 6.2.1.7 63
  • EC 6.2.1.- 4
  • EC 6.2.1 63
  • 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 diffuse cutaneous mastocytosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Fat digestion and absorption. 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 for SLC27A4 Gene

  • 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 (VLCFAs). 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC27A4 Gene

Genomics for SLC27A4 Gene

Regulatory Elements for SLC27A4 Gene

Promoters for SLC27A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC27A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC27A4 Gene

Chromosome:
9
Start:
128,340,560 bp from pter
End:
128,361,470 bp from pter
Size:
20,911 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
    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.
    SequenceCaution:
    • Sequence=AAD11623.1; Type=Frameshift; Positions=362, 387, 612, 619; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC27A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC27A4 Gene

Proteomics data for SLC27A4 Gene at MOPED

Post-translational modifications for SLC27A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC27A4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for SLC27A4 Gene

Protein Domains for SLC27A4 Gene

Suggested Antigen Peptide Sequences for SLC27A4 Gene

GenScript: Design optimal peptide antigens:

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. 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 (VLCFAs). 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).

Enzyme Numbers (IUBMB) for SLC27A4 Gene

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 Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SLC27A4 Gene

Localization for SLC27A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC27A4 Gene

Membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC27A4 Gene COMPARTMENTS Subcellular localization image for SLC27A4 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
mitochondrion 2
peroxisome 2
cytosol 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC27A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 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:0006631 fatty acid metabolic process IEA --
GO:0007584 response to nutrient IEA --
GO:0015908 fatty acid transport TAS 9878842
GO:0015909 long-chain fatty acid transport IEA,TAS --
GO:0044539 long-chain fatty acid import IDA 22022213
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

(6) Drugs for SLC27A4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 20
Propionyl-CoA Experimental Pharma 0
Stearic acid Experimental Pharma 0
Tridecanoic acid Experimental Pharma 0

(36) 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • 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

Unigene Clusters for SLC27A4 Gene

Solute carrier family 27 (fatty acid transporter), member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SLC27A4 Gene

GeneLoc Exon Structure for
SLC27A4
ECgene alternative splicing isoforms for
SLC27A4

Expression for SLC27A4 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for SLC27A4 Gene



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.
genes like me logo Genes that share expression patterns with SLC27A4: view

Protein tissue co-expression partners for SLC27A4 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia SLC27A4 35
  • 87.92 (n)
  • 88.8 (a)
SLC27A4 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC27A4 35
  • 88.7 (n)
  • 91.6 (a)
SLC27A4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc27a4 35
  • 87.61 (n)
  • 92.22 (a)
Slc27a4 16
Slc27a4 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC27A4 35
  • 99.53 (n)
  • 99.69 (a)
SLC27A4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc27a4 35
  • 87.61 (n)
  • 90.98 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC27A4 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC27A4 35
  • 70.09 (n)
  • 67.65 (a)
SLC27A4 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC27A4 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc27a4 35
  • 69.1 (n)
  • 72.01 (a)
zebrafish
(Danio rerio)
Actinopterygii slc27a4 35
  • 67.91 (n)
  • 69.98 (a)
slc27a4 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30194 37
  • 42 (a)
CG3394 37
  • 41 (a)
Fatp 37
  • 45 (a)
Fatp 35
  • 55.79 (n)
  • 48.36 (a)
CG30194 36
  • 40 (a)
ManyToMany
CG3394 36
  • 38 (a)
ManyToMany
Fatp 36
  • 42 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001763 35
  • 56.77 (n)
  • 48.1 (a)
worm
(Caenorhabditis elegans)
Secernentea D1009.1a 37
  • 39 (a)
F28D1.9 37
  • 40 (a)
acs-20 35
  • 48.48 (n)
  • 43.82 (a)
acs-20 36
  • 39 (a)
ManyToMany
acs-22 36
  • 39 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAT1 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9398 36
  • 43 (a)
OneToMany
Species with no ortholog for SLC27A4:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for SLC27A4 Gene

Paralogs for SLC27A4 Gene

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

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

Variants for SLC27A4 Gene

Sequence variations from dbSNP and Humsavar for SLC27A4 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs2240953 - 128,348,613(-) CGCAC(C/T)GGGCT reference, missense
VAR_063192 Ichthyosis prematurity syndrome (IPS)
VAR_063193 Ichthyosis prematurity syndrome (IPS)
VAR_063194 Ichthyosis prematurity syndrome (IPS)
VAR_063195 Ichthyosis prematurity syndrome (IPS)

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

Variant ID Type Subtype PubMed ID
dgv8294n71 CNV Loss 21882294
nsv831728 CNV Loss 17160897
nsv415888 CNV Insertion 16902084
esv2739070 CNV Deletion 23290073
esv2660941 CNV Deletion 23128226

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)

Relevant External Links for SLC27A4 Gene

HapMap Linkage Disequilibrium report
SLC27A4
Human Gene Mutation Database (HGMD)
SLC27A4

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

Disorders for SLC27A4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC27A4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
ichthyosis prematurity syndrome
  • ichthyosis congenita iv
diffuse cutaneous mastocytosis
  • dcm
cutaneous mastocytosis
  • cm
autosomal recessive congenital ichthyosis
  • autosomal recessive lamellar ichthyosis
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for SLC27A4

Genetic Association Database (GAD)
SLC27A4
Human Genome Epidemiology (HuGE) Navigator
SLC27A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC27A4
genes like me logo Genes that share disorders with SLC27A4: view

No data available for Genatlas for SLC27A4 Gene

Publications for SLC27A4 Gene

  1. Genetic and structural evaluation of fatty acid transport protein-4 in relation to markers of the insulin resistance syndrome. (PMID: 14715877) Gertow K. … Fisher R.M. (J. Clin. Endocrinol. Metab. 2004) 3 4 23 48 67
  2. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. (PMID: 19631310) Klar J. … Fischer J. (Am. J. Hum. Genet. 2009) 3 23
  3. Tissue distribution and cDNA cloning of a human fatty acid transport protein (hsFATP4). (PMID: 9878842) Fitscher B.A. … Stremmel W. (Biochim. Biophys. Acta 1998) 2 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for SLC27A4 Gene

Sources for SLC27A4 Gene

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