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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 Metabolism and Insulin resistance. 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

Regulatory Elements for SLC27A5 Gene

Enhancers for SLC27A5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H058511 1.6 Ensembl ENCODE dbSUPER 0.7 -0.8 -835 3 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SP5 ZNF584 ZNF446 ZNF606 ZNF549 CENPBD1P1 ZNF417 ZNF134 ZNF776 MZF1 ZNF324B
GH19H058509 0.9 ENCODE 0.7 +2.6 2563 0 HDAC1 ATF1 FOXA2 THRB RARA YY1 TCF12 GATA2 CREM THAP11 CENPBD1P1 SLC27A5 PIR33832
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC27A5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC27A5 Gene

Chromosome:
19
Start:
58,479,512 bp from pter
End:
58,512,413 bp from pter
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

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 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

  • Taconic Biosciences Mouse Models for SLC27A5

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC27A5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 IEA,IDA 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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC27A5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 Sequence Context AA Info Type
rs147464959 Likely benign 58,499,543(+) GGTCC(A/G)TGGCC nc-transcript-variant, reference, missense
rs137880349 Uncertain significance 58,511,693(+) CAGCC(A/G)GCAGC reference, missense
rs138318343 Uncertain significance 58,510,876(+) AGCAG(C/T)GGATG nc-transcript-variant, reference, missense
rs141574728 Uncertain significance 58,499,178(+) GACAA(C/T)ACGCC upstream-variant-2KB, reference, synonymous-codon
rs142672241 Uncertain significance 58,501,308(+) AGTAC(C/T)GCAGG intron-variant, reference, missense

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)

Relevant External Links 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

Relevant External Links for SLC27A5

Genetic Association Database (GAD)
SLC27A5
Human Genome Epidemiology (HuGE) Navigator
SLC27A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC27A5
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 60
  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 60
  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 45 60
  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 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for SLC27A5 Gene

Sources for SLC27A5 Gene

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