The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This g... See more...

Aliases for SLC27A5 Gene

Aliases for SLC27A5 Gene

  • Solute Carrier Family 27 Member 5 2 3 4 5
  • Fatty-Acid-Coenzyme A Ligase, Very Long-Chain 3 2 3 4
  • VLCS-H2 2 3 4
  • ACSVL6 2 3 4
  • FACVL3 2 3 4
  • VLACSR 2 3 4
  • VLCSH2 2 3 4
  • FATP5 2 3 4
  • ACSB 2 3 4
  • Solute Carrier Family 27 (Fatty Acid Transporter), Member 5 2 3
  • Very Long-Chain Acyl-CoA Synthetase-Related Protein 3 4
  • Very Long-Chain Acyl-CoA Synthetase Homolog 2 3 4
  • Fatty Acid Transport Protein 5 3 4
  • Bile Acyl-CoA Synthetase 3 4
  • Bile Acid-CoA Ligase 3 4
  • Cholate--CoA Ligase 3 4
  • BA-CoA Ligase 3 4
  • VLACS-Related 3 4
  • FATP-5 3 4
  • BACS 3 4
  • BAL 3 4
  • EC 6.2.1.7 4
  • FLJ22987 2
  • SLC27A5 5

External Ids for SLC27A5 Gene

Previous GeneCards Identifiers for SLC27A5 Gene

  • GC19U990162
  • GC19M059463
  • GC19M063666
  • GC19M063701
  • GC19M059009
  • GC19M055319
  • GC19M058990

Summaries for SLC27A5 Gene

Entrez Gene Summary for SLC27A5 Gene

  • The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC27A5 Gene

SLC27A5 (Solute Carrier Family 27 Member 5) is a Protein Coding gene. Diseases associated with SLC27A5 include Bile Acid Coa Ligase Deficiency And Defective Amidation and Bardet-Biedl Syndrome 1. Among its related pathways are Farnesoid X Receptor Pathway and Insulin resistance. Gene Ontology (GO) annotations related to this gene include very long-chain fatty acid-CoA ligase activity. An important paralog of this gene is SLC27A2.

UniProtKB/Swiss-Prot Summary for SLC27A5 Gene

  • Acyl-CoA synthetase that catalyzes the activation of bile acids via formation of bile acid CoA thioesters which is necessary for their subsequent conjugation with glycine or taurine (PubMed:10749848, PubMed:11980911). Both primary bile acids (cholic acid and chenodeoxycholic acid) and secondary bile acids (deoxycholic acid and lithocholic acid) are the principal substrates (PubMed:10749848, PubMed:11980911). Also exhibits acyl CoA synthetase activity that activates very long-chain fatty acids (VLCFAs) by catalyzing the formation of fatty acyl-CoA (PubMed:10479480). In vitro, also activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol (PubMed:11980911). Exhibits long-chain fatty acids (LCFA) transport activity (PubMed:20530735). Plays an important role in hepatic fatty acid uptake and bile acid reconjugation and recycling but not in de novo synthesis of bile acids (By similarity).

Gene Wiki entry for SLC27A5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC27A5 Gene

Genomics for SLC27A5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC27A5 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 SLC27A5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC27A5

Top Transcription factor binding sites by QIAGEN in the SLC27A5 gene promoter:
  • ARP-1
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for SLC27A5 Gene

Latest Assembly
chr19:58,479,512-58,512,413
(GRCh38/hg38)
Size:
32,902 bases
Orientation:
Minus strand

Previous Assembly
chr19:59,009,700-59,023,359
(GRCh37/hg19 by Entrez Gene)
Size:
13,660 bases
Orientation:
Minus strand

chr19:58,990,879-59,023,780
(GRCh37/hg19 by Ensembl)
Size:
32,902 bases
Orientation:
Minus strand

Genomic View for SLC27A5 Gene

Genes around SLC27A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC27A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC27A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC27A5 Gene

Proteins for SLC27A5 Gene

  • Protein details for SLC27A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2P5-S27A5_HUMAN
    Recommended name:
    Bile acyl-CoA synthetase
    Protein Accession:
    Q9Y2P5
    Secondary Accessions:
    • B3KVP6
    • B4DPQ1

    Protein attributes for SLC27A5 Gene

    Size:
    690 amino acids
    Molecular mass:
    75385 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC27A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC27A5 Gene

Post-translational modifications for SLC27A5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC27A5 Gene

No data available for DME Specific Peptides for SLC27A5 Gene

Domains & Families for SLC27A5 Gene

Gene Families for SLC27A5 Gene

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

Protein Domains for SLC27A5 Gene

InterPro:
Blocks:
  • AMP-binding signature

Suggested Antigen Peptide Sequences for SLC27A5 Gene

GenScript: Design optimal peptide antigens:
  • Very long-chain acyl-CoA synthetase-related protein (S27A5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2P5

UniProtKB/Swiss-Prot:

S27A5_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 SLC27A5: view

Function for SLC27A5 Gene

Molecular function for SLC27A5 Gene

UniProtKB/Swiss-Prot Function:
Acyl-CoA synthetase that catalyzes the activation of bile acids via formation of bile acid CoA thioesters which is necessary for their subsequent conjugation with glycine or taurine (PubMed:10749848, PubMed:11980911). Both primary bile acids (cholic acid and chenodeoxycholic acid) and secondary bile acids (deoxycholic acid and lithocholic acid) are the principal substrates (PubMed:10749848, PubMed:11980911). Also exhibits acyl CoA synthetase activity that activates very long-chain fatty acids (VLCFAs) by catalyzing the formation of fatty acyl-CoA (PubMed:10479480). In vitro, also activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol (PubMed:11980911). Exhibits long-chain fatty acids (LCFA) transport activity (PubMed:20530735). Plays an important role in hepatic fatty acid uptake and bile acid reconjugation and recycling but not in de novo synthesis of bile acids (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + cholate + CoA = AMP + choloyl-CoA + diphosphate; Xref=Rhea:RHEA:23532, ChEBI:CHEBI:29747, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57373, ChEBI:CHEBI:456215; EC=6.2.1.7; Evidence={ECO:0000269|PubMed:10479480, ECO:0000269|PubMed:10749848, ECO:0000269|PubMed:11980911};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate + ATP + CoA = (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:22976, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:58677, ChEBI:CHEBI:58734, ChEBI:CHEBI:456215; EC=6.2.1.7; Evidence={ECO:0000269|PubMed:11980911};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a very long-chain fatty acid + ATP + CoA = a very long-chain fatty acyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:54536, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:58950, ChEBI:CHEBI:138261, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:10479480};.
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=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:0000269|PubMed:10479480};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + octadecanoate = AMP + diphosphate + octadecanoyl-CoA; Xref=Rhea:RHEA:33615, ChEBI:CHEBI:25629, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:10479480};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + eicosanoate = AMP + diphosphate + eicosanoyl-CoA; Xref=Rhea:RHEA:46208, ChEBI:CHEBI:30616, ChEBI:CHEBI:32360, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:10479480};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + hexacosanoate = AMP + diphosphate + hexacosanoyl-CoA; Xref=Rhea:RHEA:43748, ChEBI:CHEBI:30616, ChEBI:CHEBI:31013, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:64868, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:10479480};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + chenodeoxycholate + CoA = AMP + chenodeoxycholoyl-CoA + diphosphate; Xref=Rhea:RHEA:43764, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:36234, ChEBI:CHEBI:57287, ChEBI:CHEBI:62989, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:11980911};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + deoxycholate = AMP + deoxycholoyl-CoA + diphosphate; Xref=Rhea:RHEA:47128, ChEBI:CHEBI:23614, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:58810, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:11980911};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + lithocholate = AMP + diphosphate + lithocholoyl-CoA; Xref=Rhea:RHEA:47136, ChEBI:CHEBI:29744, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:87438, ChEBI:CHEBI:456215; Evidence={ECO:0000269|PubMed:11980911};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.8 uM for cholate {ECO:0000269|PubMed:11980911}; Vmax=3.8 nmol/min/mg enzyme with cholate as substrate for bile acyl-CoA synthetase activity {ECO:0000269|PubMed:11980911};
UniProtKB/Swiss-Prot EnzymeRegulation:
3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA) inhibits the activation of cholate.

Enzyme Numbers (IUBMB) for SLC27A5 Gene

Phenotypes From GWAS Catalog for SLC27A5 Gene

Gene Ontology (GO) - Molecular Function for SLC27A5 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 TAS --
GO:0005324 long-chain fatty acid transporter activity IDA 20530735
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with SLC27A5: view
genes like me logo Genes that share phenotypes with SLC27A5: view

Animal Models for SLC27A5 Gene

MGI Knock Outs for SLC27A5:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC27A5

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SLC27A5 Gene

Localization for SLC27A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC27A5 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein. Microsome. Cell 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 SLC27A5 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
cytoskeleton 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC27A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IDA 10479480
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IEA --
GO:0009925 basal plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC27A5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC27A5 Gene

Pathways & Interactions for SLC27A5 Gene

genes like me logo Genes that share pathways with SLC27A5: view

Gene Ontology (GO) - Biological Process for SLC27A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IBA,IDA 10479480
GO:0001676 long-chain fatty acid metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006642 triglyceride mobilization IBA 21873635
genes like me logo Genes that share ontologies with SLC27A5: view

No data available for SIGNOR curated interactions for SLC27A5 Gene

Drugs & Compounds for SLC27A5 Gene

(9) Drugs for SLC27A5 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
chenodeoxycholic acid Approved Pharma 30
cholic acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Hexanoyl-CoA Experimental Pharma 0
Phosphate Experimental Pharma 0

(40) Additional Compounds for SLC27A5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(25R)-3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestan-26-oyl-CoA
  • (25R)-3,7,12-Trihydroxycoprostanoyl-CoA
  • (25R)-3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestanoyl-CoA
  • (25R)-THCA-CoA
  • (25R)-3a,7a,12a-Trihydroxy-5b-cholestanoyl-CoA
  • (25R)-3Α,7α,12α-trihydroxy-5β-cholestanoyl-CoA
(25R)-3alpha,7alpha-Dihydroxy-5beta-cholestanoyl-CoA
  • (25R)-3a,7a-Dihydroxy-5b-cholestanoyl-CoA
  • (25R)-3Α,7α-dihydroxy-5β-cholestanoyl-CoA
(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
genes like me logo Genes that share compounds with SLC27A5: view

Transcripts for SLC27A5 Gene

mRNA/cDNA for SLC27A5 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 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 SLC27A5

Alternative Splicing Database (ASD) splice patterns (SP) for SLC27A5 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b · 10c
SP1: - - -
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for SLC27A5 Gene

GeneLoc Exon Structure for
SLC27A5

Expression for SLC27A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC27A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC27A5 Gene

This gene is overexpressed in Liver (x39.8).

Protein differential expression in normal tissues from HIPED for SLC27A5 Gene

This gene is overexpressed in Gallbladder (42.9) and Liver (25.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC27A5 Gene



Protein tissue co-expression partners for SLC27A5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC27A5

SOURCE GeneReport for Unigene cluster for SLC27A5 Gene:

Hs.292177

mRNA Expression by UniProt/SwissProt for SLC27A5 Gene:

Q9Y2P5-S27A5_HUMAN
Tissue specificity: Predominantly expressed in liver.

Evidence on tissue expression from TISSUES for SLC27A5 Gene

  • Liver(4.9)
genes like me logo Genes that share expression patterns with SLC27A5: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC27A5 Gene

Orthologs for SLC27A5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC27A5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC27A5 29 30
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 83 (a)
OneToMany
-- 30
  • 76 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SLC27A5 29 30
  • 79.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc27a5 29
  • 75.89 (n)
Mouse
(Mus musculus)
Mammalia Slc27a5 29 16 30
  • 75.89 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC27A5 30
  • 59 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC27A5 30
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC27A5 30
  • 58 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 52 (a)
OneToMany
-- 30
  • 46 (a)
OneToMany
-- 30
  • 46 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii slc27a2a 30
  • 45 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAT1 30
  • 27 (a)
OneToMany
Soybean
(Glycine max)
eudicotyledons Gma.6780 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToMany
Species where no ortholog for SLC27A5 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for SLC27A5 Gene

ENSEMBL:
Gene Tree for SLC27A5 (if available)
TreeFam:
Gene Tree for SLC27A5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC27A5: view image
Alliance of Genome Resources:
Additional Orthologs for SLC27A5

Paralogs for SLC27A5 Gene

(6) SIMAP similar genes for SLC27A5 Gene using alignment to 3 proteins:

  • S27A5_HUMAN
  • B4DPQ1_HUMAN
  • M0R075_HUMAN
genes like me logo Genes that share paralogs with SLC27A5: view

Variants for SLC27A5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC27A5 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1048536 Uncertain Significance: not provided 58,509,892(-) G/A
NM_012254.3(SLC27A5):c.1012C>T (p.His338Tyr)
MISSENSE
rs113904799 Benign: not specified 58,511,315(-) G/A
NM_012254.3(SLC27A5):c.641C>T (p.Ala214Val)
MISSENSE_VARIANT,INTRON
rs1162988139 Uncertain Significance: not provided 58,511,898(-) G/A
NM_012254.3(SLC27A5):c.58C>T (p.Leu20=)
SYNONYMOUS
rs1189055667 Uncertain Significance: not provided 58,499,192(-) C/T
NM_012254.3(SLC27A5):c.1696G>A (p.Glu566Lys)
MISSENSE
rs1193317227 Uncertain Significance: not provided 58,498,805(-) G/A
NM_012254.3(SLC27A5):c.1876C>T (p.Pro626Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC27A5 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 SLC27A5 Gene

Variant ID Type Subtype PubMed ID
dgv3687n100 CNV gain 25217958
dgv3688n100 CNV gain 25217958
esv2667957 CNV deletion 23128226
esv2669488 CNV deletion 23128226
esv3352118 CNV duplication 20981092
esv3556699 CNV deletion 23714750
esv3644936 CNV loss 21293372
esv3644937 CNV loss 21293372
esv3644938 CNV loss 21293372
nsv1057077 CNV gain 25217958
nsv1160670 CNV deletion 26073780
nsv515731 CNV gain+loss 19592680
nsv828657 CNV gain 20364138
nsv952156 CNV deletion 24416366

Variation tolerance for SLC27A5 Gene

Residual Variation Intolerance Score: 73.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.07; 60.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC27A5 Gene

Human Gene Mutation Database (HGMD)
SLC27A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC27A5
Leiden Open Variation Database (LOVD)
SLC27A5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC27A5 Gene

Disorders for SLC27A5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC27A5 Gene - From: ORP and COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC27A5

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 SLC27A5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC27A5 Gene

Publications for SLC27A5 Gene

  1. The human liver-specific homolog of very long-chain acyl-CoA synthetase is cholate:CoA ligase. (PMID: 10749848) Steinberg SJ … Watkins PA (The Journal of biological chemistry 2000) 2 3 4
  2. Human liver-specific very-long-chain acyl-coenzyme A synthetase: cDNA cloning and characterization of a second enzymatically active protein. (PMID: 10479480) Steinberg SJ … Watkins PA (Molecular genetics and metabolism 1999) 2 3 4
  3. Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism. (PMID: 22089923) Chong CP … Clayton PT (Journal of inherited metabolic disease 2012) 3 72
  4. FATP2 is a hepatic fatty acid transporter and peroxisomal very long-chain acyl-CoA synthetase. (PMID: 20530735) Falcon A … Stahl A (American journal of physiology. Endocrinology and metabolism 2010) 3 4
  5. A promoter polymorphism in the liver-specific fatty acid transport protein 5 is associated with features of the metabolic syndrome and steatosis. (PMID: 20945272) Auinger A … Rubin D (Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2010) 3 40

Products for SLC27A5 Gene

Sources for SLC27A5 Gene