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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
  • 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 Acid-CoA Ligase 3 4
  • Cholate--CoA Ligase 3 4
  • BA-CoA Ligase 3 4
  • VLACS-Related 3 4
  • VLCS-H2 3 4
  • ACSVL6 3 4
  • FACVL3 3 4
  • FATP-5 3 4
  • VLACSR 3 4
  • VLCSH2 3 4
  • FATP5 3 4
  • ACSB 3 4
  • BACS 3 4
  • BAL 3 4
  • Bile Acyl-CoA Synthetase 3
  • EC 6.2.1.7 4

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 Amusia. Among its related pathways are Farnesoid X Receptor Pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include protein complex binding and very long-chain fatty acid-CoA ligase activity. An important paralog of this gene is SLC27A2.

UniProtKB/Swiss-Prot for SLC27A5 Gene

  • Acyl-CoA synthetase involved in bile acid metabolism. Proposed to catalyze the first step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi by activating them to their CoA thioesters. Seems to activate secondary bile acids entering the liver from the enterohepatic circulation. 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.

Gene Wiki entry for SLC27A5 Gene

Additional gene information for SLC27A5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC27A5 Gene

Genomics for SLC27A5 Gene

GeneHancer (GH) Regulatory Elements for SLC27A5 Gene

Promoters and enhancers for SLC27A5 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
GH19I058511 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.8 -835 3.9 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B E2F8 SLC27A5 LOC105372486 ZNF584 CENPBD1P1 ZBTB45
GH19I058509 Enhancer 0.9 ENCODE 0.8 +2.6 2563 0.7 HDAC1 ATF1 FOXA2 THRB RARA YY1 TCF12 GATA2 CREM THAP11 PIR33832 CENPBD1P1 SLC27A5 LOC105372485
GH19I058498 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 0.4 +13.2 13248 2.2 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 LOC105372485 ZNF584 ZNF324B TRIM28 LOC105372483 ENSG00000268543 ZBTB45 ZNF132 ENSG00000268912 ZNF134
GH19I058488 Enhancer 0.9 ENCODE 0.3 +22.9 22879 1.3 HDAC1 ATF1 PKNOX1 BATF IRF4 ZNF350 ETV6 ATF7 RUNX3 SMARCA5 RN7SL693P GC19M058505 ZNF132 ZNF417 ZNF773 ZNF134 ZNF274 ZNF446 TRIM28 ZNF256
GH19I058504 Enhancer 0.4 ENCODE 0.4 +7.6 7604 0.2 ZNF687 CEBPB ZKSCAN1 ZNF584 PIR33832 LOC105372485 SLC27A5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC27A5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC27A5 gene promoter:

Genomic Locations for SLC27A5 Gene

Genomic Locations for SLC27A5 Gene
chr19:58,479,512-58,512,413
(GRCh38/hg38)
Size:
32,902 bases
Orientation:
Minus strand
chr19:58,990,879-59,023,780
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for SLC27A5 Gene

Antibody Products

  • Abcam antibodies for SLC27A5
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC27A5

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

Suggested Antigen Peptide Sequences for SLC27A5 Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
ATP + cholate + CoA = AMP + diphosphate + choloyl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oate + CoA = AMP + diphosphate + (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA.
UniProtKB/Swiss-Prot Function:
Acyl-CoA synthetase involved in bile acid metabolism. Proposed to catalyze the first step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi by activating them to their CoA thioesters. Seems to activate secondary bile acids entering the liver from the enterohepatic circulation. 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.

Enzyme Numbers (IUBMB) 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:0005524 ATP binding IEA --
GO:0015245 fatty acid transmembrane transporter activity IEA --
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:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Phenotypes From GWAS Catalog , 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.

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
peroxisome 2
extracellular 1
cytosol 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 IDA,IEA 10479480
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0009925 basal plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of 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 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 IEA --
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 Antagonist 35
cholic acid Approved Pharma Full agonist, Agonist 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Hexanoyl-CoA Experimental Pharma 0

(41) 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)-3alpha,7alpha-Dihydroxy-5beta-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
  • (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
genes like me logo Genes that share compounds with SLC27A5: view

Transcripts for SLC27A5 Gene

Unigene Clusters for SLC27A5 Gene

Solute carrier family 27 (fatty acid transporter), member 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
SLC27A5

Expression for SLC27A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SLC27A5 Gene



Protein tissue co-expression partners for SLC27A5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC27A5 Gene:

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

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 33 34
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SLC27A5 33 34
  • 79.95 (n)
mouse
(Mus musculus)
Mammalia Slc27a5 33 16 34
  • 75.89 (n)
rat
(Rattus norvegicus)
Mammalia Slc27a5 33
  • 75.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC27A5 34
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC27A5 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC27A5 34
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 52 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii slc27a2a 34
  • 45 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAT1 34
  • 27 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.6780 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
Species where no ortholog for SLC27A5 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)
  • 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 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)

Paralogs for SLC27A5 Gene

Paralogs for SLC27A5 Gene

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

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

Variants for SLC27A5 Gene

Sequence variations from dbSNP and Humsavar for SLC27A5 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs147464959 likely-benign, not specified 58,499,543(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs137880349 uncertain-significance, not specified 58,511,693(-) G/A coding_sequence_variant, missense_variant
rs138318343 uncertain-significance, not specified 58,510,876(-) C/T coding_sequence_variant, missense_variant
rs141574728 uncertain-significance, not specified 58,499,178(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs142672241 uncertain-significance, not specified 58,501,308(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC27A5 Gene

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

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

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

Disorders for SLC27A5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC27A5 Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
bile acid coa ligase deficiency and defective amidation
amusia
  • receptive amusia
schizophreniform disorder
  • schizophreniform disorders
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC27A5

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 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 58
  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 58
  3. 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 44 58
  4. Candidate gene association study of type 2 diabetes in a nested case-control study of the EPIC-Potsdam cohort - role of fat assimilation. (PMID: 17266179) Fisher E … Döring F (Molecular nutrition & food research 2007) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for SLC27A5 Gene

Sources for SLC27A5 Gene

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