Aliases for SLC27A1 Gene

Aliases for SLC27A1 Gene

  • Solute Carrier Family 27 Member 1 2 3 4 5
  • Solute Carrier Family 27 (Fatty Acid Transporter), Member 1 2 3
  • Long-Chain Fatty Acid Transport Protein 1 3 4
  • Fatty Acid Transport Protein 1 3 4
  • ACSVL5 3 4
  • FATP-1 3 4
  • FATP1 3 4
  • EC 6.2.1.- 4
  • EC 6.2.1 54
  • FATP 3

External Ids for SLC27A1 Gene

Previous GeneCards Identifiers for SLC27A1 Gene

  • GC19U990163
  • GC19P017442
  • GC19P017579
  • GC19P017146
  • GC19P017553
  • GC19P017701
  • GC19P020474
  • GC19P020617
  • GC19P017725
  • GC19P018292
  • GC19P018692
  • GC19P019002
  • GC19P019321
  • GC19P019657
  • GC19P020015
  • GC19P020328

Summaries for SLC27A1 Gene

GeneCards Summary for SLC27A1 Gene

SLC27A1 (Solute Carrier Family 27 Member 1) is a Protein Coding gene. Diseases associated with SLC27A1 include Ichthyosis Prematurity Syndrome and Melkersson-Rosenthal Syndrome. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and PPAR signaling pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and long-chain fatty acid-CoA ligase activity. An important paralog of this gene is SLC27A4.

UniProtKB/Swiss-Prot Summary for SLC27A1 Gene

  • Mediates the ATP-dependent import of long-chain fatty acids (LCFA) into the cell by mediating their translocation at the plasma membrane (PubMed:28178239). Has also an acyl-CoA ligase activity for long-chain and very-long-chain fatty acids. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane-associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or triglyceride synthesis. May be involved in regulation of cholesterol metabolism (By similarity).

Gene Wiki entry for SLC27A1 Gene

Additional gene information for SLC27A1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC27A1 Gene

Genomics for SLC27A1 Gene

GeneHancer (GH) Regulatory Elements for SLC27A1 Gene

Promoters and enhancers for SLC27A1 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 SLC27A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC27A1 gene promoter:
  • c-Myb
  • Egr-2
  • FOXO1
  • FOXO1a
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha2
  • Sp1

Genomic Locations for SLC27A1 Gene

Genomic Locations for SLC27A1 Gene
chr19:17,468,769-17,506,168
(GRCh38/hg38)
Size:
37,400 bases
Orientation:
Plus strand
chr19:17,579,578-17,616,977
(GRCh37/hg19)
Size:
37,400 bases
Orientation:
Plus strand

Genomic View for SLC27A1 Gene

Genes around SLC27A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC27A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC27A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC27A1 Gene

Proteins for SLC27A1 Gene

  • Protein details for SLC27A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PCB7-S27A1_HUMAN
    Recommended name:
    Long-chain fatty acid transport protein 1
    Protein Accession:
    Q6PCB7
    Secondary Accessions:
    • A6NIH2
    • B7Z662

    Protein attributes for SLC27A1 Gene

    Size:
    646 amino acids
    Molecular mass:
    71108 Da
    Quaternary structure:
    • Self-associates. May function as a homodimer (By similarity). Interacts with EPRS; mediates the translocation of SLC27A1 from the cytoplasm to the plasma membrane thereby increasing the uptake of long-chain fatty acids (PubMed:28178239).

    Alternative splice isoforms for SLC27A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC27A1 Gene

Selected DME Specific Peptides for SLC27A1 Gene

Q6PCB7:
  • RHRVRLAVGNGLRP
  • DPLRRFDGY
  • GDVLVMDELGY
  • YDCLPLYHSAGNI
  • RKKFSASRFWDDC
  • GENVSTTEVE
  • TSGTTGLPKA
  • VHSRYYR
  • EFYGATECNCS
  • EFVGLWLG

Post-translational modifications for SLC27A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for SLC27A1 Gene

Gene Families for SLC27A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC27A1 Gene

Suggested Antigen Peptide Sequences for SLC27A1 Gene

GenScript: Design optimal peptide antigens:
  • SLC27A1 protein (Q96DY3_HUMAN)
  • Solute carrier family 27 member 1 (S27A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PCB7

UniProtKB/Swiss-Prot:

S27A1_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 SLC27A1: view

Function for SLC27A1 Gene

Molecular function for SLC27A1 Gene

UniProtKB/Swiss-Prot Function:
Mediates the ATP-dependent import of long-chain fatty acids (LCFA) into the cell by mediating their translocation at the plasma membrane (PubMed:28178239). Has also an acyl-CoA ligase activity for long-chain and very-long-chain fatty acids. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane-associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or triglyceride synthesis. May be involved in regulation of cholesterol metabolism (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by Triacsin C.

Enzyme Numbers (IUBMB) for SLC27A1 Gene

Phenotypes From GWAS Catalog for SLC27A1 Gene

Gene Ontology (GO) - Molecular Function for SLC27A1 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 IEA,ISS --
GO:0005324 long-chain fatty acid transporter activity IBA 21873635
GO:0005515 protein binding IPI 28178239
genes like me logo Genes that share ontologies with SLC27A1: view
genes like me logo Genes that share phenotypes with SLC27A1: view

Animal Models for SLC27A1 Gene

MGI Knock Outs for SLC27A1:

Animal Model Products

CRISPR Products

miRNA for SLC27A1 Gene

miRTarBase miRNAs that target SLC27A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC27A1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC27A1 Gene

Localization for SLC27A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC27A1 Gene

Cell membrane; Single-pass membrane protein. Endomembrane system; Single-pass membrane protein. Cytoplasm. Note=Plasma membrane and intracellular membranes, at least in adipocytes. In adipocytes, but not myocytes, insulin via the mTORC1 signaling pathway induces a rapid translocation of SLC27A1 from intracellular compartments to the plasma membrane, paralleled by increased LCFA uptake. Insulin-dependent translocation from the cytoplasm to the cell membrane is regulated by EPRS. Predominantly cytoplasmic in myocytes. {ECO:0000250 UniProtKB:Q60714}.

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 SLC27A1 gene
Compartment Confidence
plasma membrane 4
mitochondrion 4
cytosol 4
peroxisome 2
endoplasmic reticulum 2
extracellular 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (1)
  • Mitochondria (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA --
GO:0005743 colocalizes_with mitochondrial inner membrane IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SLC27A1: view

Pathways & Interactions for SLC27A1 Gene

genes like me logo Genes that share pathways with SLC27A1: view

Gene Ontology (GO) - Biological Process for SLC27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001579 medium-chain fatty acid transport IBA 21873635
GO:0001676 long-chain fatty acid metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006646 phosphatidylethanolamine biosynthetic process IBA,IMP 19523918
genes like me logo Genes that share ontologies with SLC27A1: view

No data available for SIGNOR curated interactions for SLC27A1 Gene

Drugs & Compounds for SLC27A1 Gene

(13) Drugs for SLC27A1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma Full agonist, Agonist 25
Stearic acid Approved, Experimental Pharma 0
arachidonic acid Experimental Pharma Activator, Agonist, Inhibitor, Activation, Potentiation 38
Hexanoyl-CoA Experimental Pharma 0
Myristic acid Experimental Pharma 0

(44) Additional Compounds for SLC27A1 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
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 SLC27A1: view

Transcripts for SLC27A1 Gene

mRNA/cDNA for SLC27A1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC27A1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC27A1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15
SP1:
SP2:
SP3: - -
SP4: -
SP5: - -
SP6:
SP7:

Relevant External Links for SLC27A1 Gene

GeneLoc Exon Structure for
SLC27A1
ECgene alternative splicing isoforms for
SLC27A1

Expression for SLC27A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC27A1 Gene

Protein differential expression in normal tissues from HIPED for SLC27A1 Gene

This gene is overexpressed in Nasal epithelium (34.0) and Testis (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC27A1 Gene



Protein tissue co-expression partners for SLC27A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC27A1 Gene:

SLC27A1

SOURCE GeneReport for Unigene cluster for SLC27A1 Gene:

Hs.363138

mRNA Expression by UniProt/SwissProt for SLC27A1 Gene:

Q6PCB7-S27A1_HUMAN
Tissue specificity: Highest levels of expression are detected in muscle and adipose tissue small, intermediate levels in small intestine, and barely detectable in liver.

Evidence on tissue expression from TISSUES for SLC27A1 Gene

  • Nervous system(4.4)
  • Muscle(2.7)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with SLC27A1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC27A1 Gene

Orthologs for SLC27A1 Gene

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

Orthologs for SLC27A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC27A1 33
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC27A1 33 32
  • 89.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC27A1 33 32
  • 88.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc27a1 17 33 32
  • 84.52 (n)
rat
(Rattus norvegicus)
Mammalia Slc27a1 32
  • 84.06 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC27A1 33
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC27A1 33
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC27A1 33 32
  • 71.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC27A1 33
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc27a1a 33 32
  • 64.81 (n)
OneToMany
slc27a1b 33
  • 63 (a)
OneToMany
wufc10e12 32
fruit fly
(Drosophila melanogaster)
Insecta CG30194 33
  • 42 (a)
ManyToMany
Fatp 33
  • 40 (a)
ManyToMany
CG3394 33
  • 38 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-22 33
  • 40 (a)
ManyToMany
acs-20 33
  • 38 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAT1 33
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9398 33
  • 42 (a)
OneToMany
Species where no ortholog for SLC27A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC27A1 Gene

ENSEMBL:
Gene Tree for SLC27A1 (if available)
TreeFam:
Gene Tree for SLC27A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC27A1: view image

Paralogs for SLC27A1 Gene

(6) SIMAP similar genes for SLC27A1 Gene using alignment to 6 proteins:

  • S27A1_HUMAN
  • B7Z225_HUMAN
  • B7Z662_HUMAN
  • M0QXY2_HUMAN
  • M0QZC9_HUMAN
  • Q96DY3_HUMAN
genes like me logo Genes that share paralogs with SLC27A1: view

Variants for SLC27A1 Gene

Sequence variations from dbSNP and Humsavar for SLC27A1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000123502 -- 17,506,308(+) G/C downstream_transcript_variant
rs1000266265 -- 17,506,629(+) G/A downstream_transcript_variant
rs1000314908 -- 17,491,637(+) C/T intron_variant
rs1000319804 -- 17,472,127(+) G/A intron_variant
rs1000397305 -- 17,472,289(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC27A1 Gene

Variant ID Type Subtype PubMed ID
esv2677036 CNV deletion 23128226
esv3643820 CNV loss 21293372
esv3643821 CNV loss 21293372
nsv833768 CNV loss 17160897

Variation tolerance for SLC27A1 Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC27A1 Gene

Human Gene Mutation Database (HGMD)
SLC27A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC27A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC27A1 Gene

Disorders for SLC27A1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC27A1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC27A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC27A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC27A1 Gene

Publications for SLC27A1 Gene

  1. The human fatty acid transport protein-1 (SLC27A1; FATP-1) cDNA and gene: organization, chromosomal localization, and expression. (PMID: 10873384) Martin G … Auwerx J (Genomics 2000) 2 3 4 23 56
  2. Lack of association between certain candidate gene polymorphisms and the metabolic syndrome. (PMID: 15978856) Meirhaeghe A … Dallongeville J (Molecular genetics and metabolism 2005) 3 23 43 56
  3. A common polymorphism in the fatty acid transport protein-1 gene associated with elevated post-prandial lipaemia and alterations in LDL particle size distribution. (PMID: 12818409) Gertow K … Fisher RM (Atherosclerosis 2003) 3 23 43 56
  4. FATP1 channels exogenous FA into 1,2,3-triacyl-sn-glycerol and down-regulates sphingomyelin and cholesterol metabolism in growing 293 cells. (PMID: 12235169) Hatch GM … Bernlohr DA (Journal of lipid research 2002) 3 23 26 56
  5. EPRS is a critical mTORC1-S6K1 effector that influences adiposity in mice. (PMID: 28178239) Arif A … Fox PL (Nature 2017) 3 4 56

Products for SLC27A1 Gene

Sources for SLC27A1 Gene