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Aliases for SLC27A5 Gene

Aliases for SLC27A5 Gene

  • Solute Carrier Family 27 Member 5 2 3 4
  • Solute Carrier Family 27 (Fatty Acid Transporter), Member 5 2 3 5
  • Very Long-Chain Acyl-CoA Synthetase-Related Protein 3 4
  • Fatty-Acid-Coenzyme A Ligase, Very Long-Chain 3 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
  • Fatty-Acid-Coenzyme A Ligase 2
  • Very Long-Chain 3 2
  • 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 amusia and schizophreniform disorder. Among its related pathways are Bile secretion and Translation Insulin regulation of translation. 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 SLC27A1.

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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for SLC27A5 Gene at MOPED

Post-translational modifications for SLC27A5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC27A5 Gene

Antibody Products

No data available for DME Specific Peptides for SLC27A5 Gene

Domains & Families for SLC27A5 Gene

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:0047747 cholate-CoA ligase 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

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC27A5 Gene COMPARTMENTS Subcellular localization image for SLC27A5 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
peroxisome 2
extracellular 1
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SLC27A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with SLC27A5: view

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:0015721 bile acid and bile salt transport TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
chenodeoxycholic acid Approved Pharma Antagonist 27
cholic acid Approved Pharma Full agonist, Agonist 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(42) 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:

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 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



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.
genes like me logo Genes that share expression patterns with SLC27A5: view

Protein tissue co-expression partners for SLC27A5 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SLC27A5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC27A5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC27A5 35
  • 79.95 (n)
  • 76.67 (a)
SLC27A5 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc27a5 35
  • 75.89 (n)
  • 71.73 (a)
Slc27a5 16
Slc27a5 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC27A5 35
  • 99.42 (n)
  • 99.28 (a)
SLC27A5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc27a5 35
  • 75.89 (n)
  • 71.59 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SLC27A5 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC27A5 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC27A5 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 52 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii slc27a2a 36
  • 45 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAT1 36
  • 27 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.6780 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for SLC27A5:
  • 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
rs35350976 - 58,511,807(+) CTAAC(A/G)TGGCC reference, missense
rs34415062 - 58,511,799(+) GGGCC(A/G)TGCTA reference, missense
rs16988781 -- 58,512,209(-) GCAGA(G/T)ACCTG upstream-variant-2KB
rs139900180 -- 58,512,170(+) CCTGG(C/T)GCTAA upstream-variant-2KB
rs141155610 -- 58,511,213(+) CCTGT(C/G)CTATA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv515731 CNV Gain+Loss 19592680
nsv828657 CNV Gain 20364138
esv2669488 CNV Deletion 23128226
esv2667957 CNV Deletion 23128226
nsv912546 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
SLC27A5
Human Gene Mutation Database (HGMD)
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: DISEASES

Disorder Aliases PubMed IDs
amusia
  • receptive amusia
schizophreniform disorder
  • schizophreniform disorders
schizophrenia
  • schizophrenia 12
- 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 S.J. … Watkins P.A. (J. Biol. Chem. 2000) 2 3 4 67
  2. Human liver-specific very-long-chain acyl-coenzyme A synthetase: cDNA cloning and characterization of a second enzymatically active protein. (PMID: 10479480) Steinberg S.J. … Watkins P.A. (Mol. Genet. Metab. 1999) 2 3
  3. A novel relative of the very-long-chain acyl-CoA synthetase and fatty acid transporter protein genes with a distinct expression pattern. (PMID: 9642112) Berger J. … Forss-Petter S. (Biochem. Biophys. Res. Commun. 1998) 3 23
  4. Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. (PMID: 23415802) Setchell K.D. … Bull L.N. (Gastroenterology 2013) 3
  5. Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism. (PMID: 22089923) Chong C.P. … Clayton P.T. (J. Inherit. Metab. Dis. 2012) 3

Products for SLC27A5 Gene

Sources for SLC27A5 Gene

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