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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC27A5 Gene

protein-coding   GIFtS: 61
GCID: GC19M058990

Solute Carrier Family 27 (Fatty Acid Transporter), Member...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 27 (Fatty Acid Transporter), Member 51 2     ACSVL62 3
FATP52 3 5     BACS2 3
VLACSR2 3 5     BAL2 3
VLCSH22 3 5     FACVL32 3
Bile Acid-CoA Ligase2 3     FATP-52 3
Cholate--CoA Ligase2 3     VLACS-related2 3
Fatty Acid Transport Protein 52 3     VLCS-H22 3
Fatty-Acid-Coenzyme A Ligase, Very Long-Chain 32 3     BA-CoA Ligase2 3
Solute Carrier Family 27 Member 52 3     Fatty-Acid-Coenzyme A Ligase1
Very Long-Chain Acyl-CoA Synthetase Homolog 22 3     Very Long-Chain 31
Very Long-Chain Acyl-CoA Synthetase-Related Protein2 3     Bile Acyl-CoA Synthetase2
ACSB2 3     EC 6.2.1.73

External Ids:    HGNC: 109991   Entrez Gene: 109982   Ensembl: ENSG000000838077   OMIM: 6033145   UniProtKB: Q9Y2P53   

Export aliases for SLC27A5 gene to outside databases

Previous GC identifers: GC19U990162 GC19M059463 GC19M063666 GC19M063701 GC19M059009 GC19M055319


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (fatty acid transporter), member 5) is a protein-coding gene. Diseases associated with SLC27A5 include fatty liver disease, and liver disease, and among its related super-pathways are Synthesis of bile acids and bile salts and Metabolic pathways. GO annotations related to this gene include protein complex binding and fatty acid transporter activity. An important paralog of this gene is SLC27A2.

UniProtKB/Swiss-Prot: S27A5_HUMAN, Q9Y2P5
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

Gene Wiki entry for SLC27A5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC27A5 gene promoter:
         COUP-TF1   COUP-TF   ARP-1   COUP   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC27A5 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC27A5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC27A5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.43   Ensembl cytogenetic band:  19q13.43   HGNC cytogenetic band: 19q13.43

SLC27A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC27A5 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M058990:  view genomic region     (about GC identifiers)

Start:
58,990,879 bp from pter      End:
59,023,780 bp from pter
Size:
32,902 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S27A5_HUMAN, Q9Y2P5 (See protein sequence)
Recommended Name: Bile acyl-CoA synthetase  
Size: 690 amino acids; 75385 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: B3KVP6

Explore the universe of human proteins at neXtProt for SLC27A5: NX_Q9Y2P5

Explore proteomics data for SLC27A5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2P5

  • SLC27A5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC27A5 Protein Expression
    REFSEQ proteins: NP_036386.1  
    ENSEMBL proteins: 
     ENSP00000469512   ENSP00000471065   ENSP00000263093   ENSP00000470368  
    Reactome Protein details: Q9Y2P5
    Human Recombinant Protein Products for SLC27A5: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA10479480
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0009925basal plasma membrane IEA--
    GO:0030176integral to endoplasmic reticulum membrane IDA11980911
    GO:0043231intracellular membrane-bounded organelle ----

    SLC27A5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers
    ACS: Acyl-CoA synthetase family

    IUPHAR Guide to PHARMACOLOGY protein family classification: Fatty acid transport protein 5 
    SLC27 family of fatty acid transporters

    2 InterPro protein domains:
     IPR000873 AMP-dep_Synth/Lig
     IPR020845 AMP-binding_CS

    Graphical View of Domain Structure for InterPro Entry Q9Y2P5

    ProtoNet protein and cluster: Q9Y2P5

    1 Blocks protein domain: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: S27A5_HUMAN, Q9Y2P5
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    SLC27A5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S27A5_HUMAN, Q9Y2P5
    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

         Enzyme Number (IUBMB): EC 6.2.1.71

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005524ATP binding IEA--
    GO:0015245fatty acid transporter activity IEA--
    GO:0031957very long-chain fatty acid-CoA ligase activity IDA10479480
    GO:0032403protein complex binding IEA--
         
    SLC27A5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC27A5:
     Lamellipodia and high actin ra 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc27a5):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  liver/biliary system 

    SLC27A5 for phenotypes           About GeneDecksing

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC27A5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.87
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.61
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.87
    bile acid biosynthesis, neutral pathway0.50
    Bile acid and bile salt metabolism0.74
    Recycling of bile acids and salts0.35
    Primary bile acid biosynthesis0.74
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3PPAR signaling pathway
    PPAR signaling pathway
    4Bile secretion
    Bile secretion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC27A5
        bile acid biosynthesis, neutral pathway

    5/7        Reactome Pathways for SLC27A5 (see all 7)
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Bile acid and bile salt metabolism
    Metabolism
    Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol


    4         Kegg Pathways  (Kegg details for SLC27A5):
        Primary bile acid biosynthesis
    Metabolic pathways
    PPAR signaling pathway
    Bile secretion


    SLC27A5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC27A5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for SLC27A5 (Q9Y2P53 ENSP000002630934) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSF4Q9ULV53, ENSP000002640094I2D: score=1 STRING: ENSP00000264009
    ACSL1P331213I2D: score=1 
    ALBENSP000002958974STRING: ENSP00000295897
    AMACRENSP000003344244STRING: ENSP00000334424
    BAATENSP000002594074STRING: ENSP00000259407
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000038very long-chain fatty acid metabolic process IDA10479480
    GO:0006642triglyceride mobilization IEA--
    GO:0006699bile acid biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0008206bile acid metabolic process TAS--

    SLC27A5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC27A5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC27A5 (S27A5)

    10/45 HMDB Compounds for SLC27A5 (see all 45)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    3a,7a,12a-Trihydroxy-5b-cholestanoic acid3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestanoate (see all 7)33964-75-9--
    3a,7a,12a-Trihydroxy-5b-cholestanoyl-CoA3a,7a,12a-Trihydroxy-5b-cholestan-26-oyl-CoA (see all 28)57458-60-3--

    2 Novoseek inferred chemical compound relationships for SLC27A5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    taurine 56.5 1 12754200 (1)
    fatty acid 41 3 19054139 (1), 9642112 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC27A5 / S27A5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for SLC27A5 gene: 
    NM_012254.2  

    Unigene Cluster for SLC27A5:

    Solute carrier family 27 (fatty acid transporter), member 5
    Hs.292177  [show with all ESTs]
    Unigene Representative Sequence: AB208931
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000595851 ENST00000594786 ENST00000599700 ENST00000263093(uc002qtb.3 uc002qtc.2)
    ENST00000601355 ENST00000601997 ENST00000594683 ENST00000593745
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    Additional mRNA sequence: 

    AB208931.1 AF064255.1 AK026640.1 AK123036.1 AK298446.1 

    12 DOTS entries:

    DT.99927231  DT.86839376  DT.100764620  DT.121457190  DT.410504  DT.95342810  DT.97837645  DT.121457183 
    DT.97802875  DT.91935988  DT.75127190  DT.97839687 

    24/59 AceView cDNA sequences (see all 59):

    CB156985 BX103174 CB163817 BF508128 AK123036 BX427564 BP369482 AF064255 
    BU528534 BU568143 CB163803 AI073500 AA312659 AI240480 AK026640 BV183863 
    BM931418 AA401562 AA745947 BP368877 BX427563 BM707896 CA407501 BG284153 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC27A5    About this scheme

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


    ECgene alternative splicing isoforms for SLC27A5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC27A5 expression in normal human tissues (normalized intensities)      SLC27A5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGTCACCA
    SLC27A5 Expression
    About this image


    SLC27A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule

    See SLC27A5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC27A5

    SOURCE GeneReport for Unigene cluster: Hs.292177

    UniProtKB/Swiss-Prot: S27A5_HUMAN, Q9Y2P5
    Tissue specificity: Predominantly expressed in liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC27A5: 
              Fatty Acid Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              PPAR Targets in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC27A5 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc27a51 , 5 solute carrier family 27 (fatty acid transporter), more1, 5 75.71(n)1
    71.55(a)1
      7 (7.71 cM)5
    264591  NM_009512.21  NP_033538.21 
     129883465 
    chicken
    (Gallus gallus)
    Aves SLC27A56
    solute carrier family 27 (fatty acid transporter),...
    57(a)
    1 ↔ 1
    JH376316.1(6551-10770)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    52(a)
    45(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    6(78733048-78742770)
    6(78742815-78756264)
    zebrafish
    (Danio rerio)
    Actinopterygii slc27a2a6
    zgc:1584826
    (see all 4)
    zgc:158482
    (see all 4)
    43(a)
    43(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    18(232068-242980)
    18(245027-251558)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FAT16
    Very long chain fatty acyl-CoA synthetase and long...
    27(a)
    1 → many
    II(318266-320275)
    soybean
    (Glycine max)
    eudicotyledons Gma.67802 Transcribed sequence with moderate similarity to protein more 85.33(n)  


    ENSEMBL Gene Tree for SLC27A5 (if available)
    TreeFam Gene Tree for SLC27A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC27A5 gene
    SLC27A22  SLC27A42  SLC27A12  SLC27A32  SLC27A62  
    6 SIMAP similar genes for SLC27A5 using alignment to 3 protein entries:     S27A5_HUMAN (see all proteins):
    SLC27A2    SLC27A6    SLC27A3    FLJ00336    SLC27A4    SLC27A1

    SLC27A5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/473 SNPs in SLC27A5 are shown (see all 473)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1825942161,2
    --59009211(+) TAGGCA/TTCGGG 1 -- ds50010--------
    rs1871931701,2
    --59009214(+) GCTTCA/GGGTAG 1 -- ds50010--------
    rs1410371161,2
    --59009221(+) GTAGCA/CGGTCC 1 -- ds50010--------
    rs1150545391,2
    C,F--59009230(+) CCAACT/CCCTGA 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs1502239481,2
    --59009265(+) GAGGCC/TTCTGC 1 -- ds50010--------
    rs1387766881,2
    --59009320(+) CGTGCA/CGTTCA 1 -- ds50010--------
    rs1114063121,2
    F--59009495(+) GATGAG/CAATCA 1 -- ds50011Minor allele frequency- C:0.50CSA 2
    rs1907378531,2
    --59009532(+) AGCTGC/TGAGGC 1 -- ds50010--------
    rs104101031,2
    C,H--59009604(+) AGGTTC/TTTTGC 1 -- ds50016Minor allele frequency- T:0.00NS EA NA 414
    rs785594101,2
    C--59009653(+) CACTAA/GCCCCT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC27A5 (58990879 - 59023780 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC27A5:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669488CNV Deletion23128226
    esv2667957CNV Deletion23128226
    nsv912546CNV Loss21882294
    nsv828657CNV Gain20364138
    nsv515731CNV Gain+Loss19592680


    Human Gene Mutation Database (HGMD): SLC27A5
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603314    OMIM disorders: --

    4 diseases for SLC27A5:    About MalaCards
    fatty liver disease    liver disease    tuberculosis    hepatitis


    SLC27A5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC27A5
    Human Genome Epidemiology (HuGE) Navigator: SLC27A5 (2 documents)

    Export disorders for SLC27A5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC27A5 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with SLC27A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human liver-specific homolog of very long-chain acyl-CoA synthetase is cholate:CoA ligase. (PubMed id 10749848)1, 2, 3 Steinberg S.J.... Watkins P.A. (2000)
    2. Human liver-specific very-long-chain acyl-coenzyme A synthetase: cDNA cloning and characterization of a second enzymatically active protein. (PubMed id 10479480)1, 2, 3 Steinberg S.J.... Watkins P.A. (1999)
    3. A promoter polymorphism in the liver-specific fatty a cid transport protein 5 is associated with features of the metabolic syndrome a nd steatosis. (PubMed id 20945272)1, 4 Auinger A....Rubin D. (2010)
    4. Candidate gene association study of type 2 diabetes in a nested case-control study of the EPIC-Potsdam cohort - role of fat assimilation. (PubMed id 17266179)1, 4 Fisher E....Doring F. (2007)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling. (PubMed id 11980911)1, 2 Mihalik S.J....Watkins P.A. (2002)
    7. A novel relative of the very-long-chain acyl-CoA synthetase and fatty acid transporter protein genes with a distinct expression pattern. (PubMed id 9642112)1, 9 Berger J....Forss-Petter S. (1998)
    8. Genetic defects in bile acid conjugation cause fat-sol uble vitamin deficiency. (PubMed id 23415802)1 Setchell K.D....Bull L.N. (2013)
    9. Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism. (PubMed id 22089923)1 Chong C.P....Clayton P.T. (2012)
    10. Heat shock transcription factor (Hsf)-4b recruits Brg1 during the G1 phase of the cell cycle and regulates the expression of heat shock proteins. (PubMed id 16552721)1 Tu N....Mivechi N.F. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10998 HGNC: 10999 AceView: SLC27A5 Ensembl:ENSG00000083807 euGenes: HUgn10998
    ECgene: SLC27A5 Kegg: 10998 H-InvDB: SLC27A5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC27A5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC27A5 gene:
    Search GeneIP for patents involving SLC27A5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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