Human Gene SLC27A5 (ENST00000263093.7) from GENCODE V44
  Description: Homo sapiens solute carrier family 27 member 5 (SLC27A5), transcript variant 1, mRNA. (from RefSeq NM_012254)
RefSeq Summary (NM_012254): 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].
Gencode Transcript: ENST00000263093.7
Gencode Gene: ENSG00000083807.10
Transcript (Including UTRs)
   Position: hg38 chr19:58,498,333-58,511,992 Size: 13,660 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr19:58,498,515-58,511,955 Size: 13,441 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:58,498,333-58,511,992)mRNA (may differ from genome)Protein (690 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S27A5_HUMAN
DESCRIPTION: RecName: Full=Bile acyl-CoA synthetase; Short=BACS; EC=6.2.1.7; AltName: Full=Bile acid-CoA ligase; Short=BA-CoA ligase; Short=BAL; AltName: Full=Cholate--CoA ligase; AltName: Full=Fatty acid transport protein 5; Short=FATP-5; AltName: Full=Fatty-acid-coenzyme A ligase, very long-chain 3; AltName: Full=Solute carrier family 27 member 5; AltName: Full=Very long-chain acyl-CoA synthetase homolog 2; Short=VLCS-H2; Short=VLCSH2; AltName: Full=Very long-chain acyl-CoA synthetase-related protein; Short=VLACS-related; Short=VLACSR;
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.
CATALYTIC ACTIVITY: ATP + cholate + CoA = AMP + diphosphate + choloyl-CoA.
CATALYTIC ACTIVITY: 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.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Predominantly expressed in liver.
SIMILARITY: Belongs to the ATP-dependent AMP-binding enzyme family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC27A5
Diseases sorted by gene-association score: bile acid coa ligase deficiency and defective amidation* (25), amusia (17), schizophreniform disorder (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 218.90 RPKM in Liver
Total median expression: 324.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.9037-0.349 Picture PostScript Text
3' UTR -54.10182-0.297 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020845 - AMP-binding_CS
IPR000873 - AMP-dep_Synth/Lig

Pfam Domains:
PF00501 - AMP-binding enzyme

ModBase Predicted Comparative 3D Structure on Q9Y2P5
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004467 long-chain fatty acid-CoA ligase activity
GO:0005524 ATP binding
GO:0015245 fatty acid transporter activity
GO:0016874 ligase activity
GO:0031957 very long-chain fatty acid-CoA ligase activity
GO:0044877 macromolecular complex binding
GO:0047747 cholate-CoA ligase activity

Biological Process:
GO:0000038 very long-chain fatty acid metabolic process
GO:0001676 long-chain fatty acid metabolic process
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006642 triglyceride mobilization
GO:0006699 bile acid biosynthetic process
GO:0008152 metabolic process
GO:0008206 bile acid metabolic process
GO:0015721 bile acid and bile salt transport
GO:0015908 fatty acid transport
GO:0015911 plasma membrane long-chain fatty acid transport
GO:0046951 ketone body biosynthetic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0009925 basal plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0032991 macromolecular complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK026640 - Homo sapiens cDNA: FLJ22987 fis, clone KAT11802.
AK123036 - Homo sapiens cDNA FLJ41040 fis, clone LIVER1000017, highly similar to Bile acyl-CoA synthetase (EC 6.2.1.7).
AF064255 - Homo sapiens very long-chain acyl-CoA synthetase homolog 2 mRNA, complete cds.
AK298446 - Homo sapiens cDNA FLJ55741 complete cds, moderately similar to Bile acyl-CoA synthetase (EC 6.2.1.7).
JD159166 - Sequence 140190 from Patent EP1572962.
JD257349 - Sequence 238373 from Patent EP1572962.
JD334387 - Sequence 315411 from Patent EP1572962.
BC146387 - Synthetic construct Homo sapiens clone IMAGE:100015134, MGC:180217 solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5) mRNA, encodes complete protein.
BC148807 - Synthetic construct Homo sapiens clone IMAGE:100015855, MGC:183197 solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5) mRNA, encodes complete protein.
AB527212 - Synthetic construct DNA, clone: pF1KE0364, Homo sapiens SLC27A5 gene for solute carrier family 27 (fatty acid transporter), member 5, without stop codon, in Flexi system.
AB208931 - Homo sapiens mRNA for solute carrier family 27 (fatty acid transporter), member 5 variant protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00120 - Primary bile acid biosynthesis
hsa01100 - Metabolic pathways
hsa03320 - PPAR signaling pathway

BioCyc Knowledge Library
PWY-6061 - bile acid biosynthesis, neutral pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9Y2P5 (Reactome details) participates in the following event(s):

R-HSA-159425 Cytosolic cholate and chenodeoxycholate are conjugated with Coenzyme A (SLC27A5 BACS)
R-HSA-192137 THCA is conjugated with Coenzyme A (SLC27A5 BACS)
R-HSA-193407 DHCA is conjugated with Coenzyme A (SLC27A5 BACS)
R-HSA-193711 3,7,24THCA is conjugated with Coenzyme A (SLC27A5 BACS)
R-HSA-193766 TetraHCA is conjugated with Coenzyme A (SLC27A5 BACS)
R-HSA-159418 Recycling of bile acids and salts
R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol
R-HSA-194068 Bile acid and bile salt metabolism
R-HSA-192105 Synthesis of bile acids and bile salts
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ACSB, ACSVL6, B3KVP6, ENST00000263093.1, ENST00000263093.2, ENST00000263093.3, ENST00000263093.4, ENST00000263093.5, ENST00000263093.6, FACVL3, FATP5, NM_012254, Q9Y2P5, S27A5_HUMAN, uc002qtc.1, uc002qtc.2, uc002qtc.3, uc002qtc.4
UCSC ID: ENST00000263093.7
RefSeq Accession: NM_012254
Protein: Q9Y2P5 (aka S27A5_HUMAN)
CCDS: CCDS12983.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.