Aliases for SLC27A1 Gene

Aliases for SLC27A1 Gene

  • Solute Carrier Family 27 Member 1 2 3 4 5
  • ACSVL5 2 3 4
  • FATP1 2 3 4
  • 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
  • FATP-1 3 4
  • FATP 2 3
  • EC 6.2.1.15 4
  • MGC71751 2
  • FLJ00336 2
  • EC 6.2.1 50
  • SLC27A1 5

External Ids for SLC27A1 Gene

Previous GeneCards Identifiers for SLC27A1 Gene

  • GC19U990163
  • GC19P017442
  • GC19P017579
  • GC19P017146
  • GC19P017553
  • GC19P017701
  • GC19P020474
  • GC19P020617
  • GC19P020723
  • GC19P022232
  • GC19P017725
  • GC19P018292
  • GC19P018692
  • GC19P019002
  • GC19P019321
  • GC19P019657
  • GC19P020015
  • GC19P020328
  • GC19P023305
  • GC19P024452

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 Platelet Glycoprotein Iv Deficiency. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Insulin resistance. 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). Probably involved in fatty acid transport across the blood barrier (PubMed:21395585).

Gene Wiki entry 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 Pubs

Promoters and enhancers for SLC27A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J017467 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 261.6 +1.1 1109 4.7 SP1 ZNF207 MYC IKZF1 ZNF600 ZMYM3 ZSCAN16 POLR2A ZIC2 YY1 SLC27A1 NXNL1 HSALNG0124529 CHERP MED26 ENSG00000268087 HAUS8 ENSG00000269578 IQCN GTPBP3
GH19J017469 Enhancer 0.5 ENCODE 250.7 -1.9 -1915 0.3 THAP11 ZNF511 CTCF SP7 ZBTB8A YY1 RAD21 MNT ERF SLC27A1 NXNL1
GH19J017475 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.2 +7.2 7169 1.7 FOXA2 SAP130 ETV4 DMAP1 TEAD3 THRB KAT7 DRAP1 SOX5 SPI1 SLC27A1 PGLS-DT HSALNG0124530 HSALNG0124529 PGLS
GH19J017472 Enhancer 0.9 ENCODE dbSUPER 16.1 +4.5 4542 1.2 JUND REST FOSL2 NFE2 ATF1 SMARCA4 MYC MAX HDAC2 MAFG SLC27A1 NXNL1 HSALNG0124529 HSALNG0124530 PGLS
GH19J017487 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.7 +20.8 20764 3.6 SSRP1 ZNF580 POLR2A NFIC CHD4 DEK ZNF341 MNT KLF7 MAX PGLS-DT SLC27A1 F2RL3 piR-38005-022 HSALNG0124530 PGLS
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC27A1

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

Latest Assembly
chr19:17,468,745-17,506,169
(GRCh38/hg38)
Size:
37,425 bases
Orientation:
Plus strand

Previous Assembly
chr19:17,581,333-17,616,977
(GRCh37/hg19 by Entrez Gene)
Size:
35,645 bases
Orientation:
Plus strand

chr19:17,579,578-17,616,977
(GRCh37/hg19 by Ensembl)
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 EPRS1; mediates the translocation of SLC27A1 from the cytoplasm to the plasma membrane thereby increasing the uptake of long-chain fatty acids (PubMed:28178239). Interacts with DGAT2 and this interaction is enhanced in the presence of ZFYVE1 (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

InterPro:
Blocks:
  • AMP-binding signature

Suggested Antigen Peptide Sequences for SLC27A1 Gene

GenScript: Design optimal peptide antigens:
  • FLJ00336 protein (Q6ZNJ4_HUMAN)
  • 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). Probably involved in fatty acid transport across the blood barrier (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, ECO:0000269|PubMed:21395585};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecanoate(out) = hexadecanoate(in); Xref=Rhea:RHEA:45256, ChEBI:CHEBI:7896; Evidence={ECO:0000269|PubMed:12556534, ECO:0000269|PubMed:21395585};.
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};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a fatty acid(in) = a fatty acid(out); Xref=Rhea:RHEA:38879, ChEBI:CHEBI:28868; Evidence={ECO:0000269|PubMed:20530735};.
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:Q60714};.
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:Q60714};.
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 IMP 21395585
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:

miRNA for SLC27A1 Gene

miRTarBase miRNAs that target SLC27A1

Inhibitory RNAs for research

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

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 EPRS1. 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
endoplasmic reticulum 4
peroxisome 3
extracellular 2
nucleus 2
cytosol 2
lysosome 2
cytoskeleton 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
  • Plasma membrane (2)
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:0005743 colocalizes_with mitochondrial inner membrane IBA 21873635
GO:0005783 endoplasmic reticulum ISS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
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

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

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

(45) 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
  • 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 SLC27A1: view

Transcripts for SLC27A1 Gene

mRNA/cDNA for SLC27A1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 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 SLC27A1

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

Expression for SLC27A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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. Expressed in brain gray matter (PubMed:21395585).

Evidence on tissue expression from TISSUES for SLC27A1 Gene

  • Nervous system(4.6)
  • Muscle(2.8)
  • Heart(2.6)
  • Liver(2.4)
  • Skin(2.2)
  • Blood(2.2)
  • Kidney(2.1)
  • Intestine(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with SLC27A1: view

Primer products for research

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 30
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC27A1 29 30
  • 89.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC27A1 29 30
  • 88.96 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc27a1 29 16 30
  • 84.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc27a1 29
  • 84.06 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC27A1 30
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC27A1 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC27A1 29 30
  • 71.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC27A1 30
  • 71 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii slc27a1a 29 30
  • 64.81 (n)
OneToMany
slc27a1b 30
  • 63 (a)
OneToMany
wufc10e12 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG30194 30
  • 42 (a)
ManyToMany
Fatp 30
  • 40 (a)
ManyToMany
CG3394 30
  • 38 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea acs-22 30
  • 40 (a)
ManyToMany
acs-20 30
  • 38 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAT1 30
  • 28 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9398 30
  • 42 (a)
OneToMany
Species where no ortholog for SLC27A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)
  • 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
Alliance of Genome Resources:
Additional Orthologs for SLC27A1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC27A1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs115772896 Benign: not provided 17,489,002(+) C/A
NM_198580.3(SLC27A1):c.887-6C>A
NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs138685840 Benign: not provided 17,504,605(+) C/T
NM_198580.3(SLC27A1):c.1934C>T (p.Ala645Val)
MISSENSE
rs146832984 Benign: not provided 17,487,313(+) G/A
NM_198580.3(SLC27A1):c.702G>A (p.Gln234=)
SYNONYMOUS
rs150502627 Benign: not provided 17,500,854(+) C/T
NM_198580.3(SLC27A1):c.1614C>T (p.Ala538=)
SYNONYMOUS
rs201975105 Benign: not provided 17,486,848(+) G/A
NM_198580.3(SLC27A1):c.453G>A (p.Ala151=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC27A1 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 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
Leiden Open Variation Database (LOVD)
SLC27A1

SNP Genotyping and Copy Number Assays for research

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

Disorders for SLC27A1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SLC27A1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
ichthyosis prematurity syndrome
  • ips
platelet glycoprotein iv deficiency
  • bleeding disorder, platelet-type, 10; bdplt10
restrictive dermopathy, lethal
  • tight skin contracture syndrome, lethal
melkersson-rosenthal syndrome
  • mros; mrs
carnitine palmitoyltransferase ii deficiency, infantile
  • carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC27A1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 22
  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 22 40
  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 22 40
  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 22 25
  5. The ER-Localized Protein DFCP1 Modulates ER-Lipid Droplet Contact Formation. (PMID: 30970241) Li D … Zhang H (Cell reports 2019) 3 4

Products for SLC27A1 Gene

Sources for SLC27A1 Gene