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SLC27A4 Gene

protein-coding   GIFtS: 62
GCID: GC09P131102

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

  See SLC27A4-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)
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Aliases
Solute Carrier Family 27 (Fatty Acid Transporter), Member 41 2     FATP-43
FATP42 3 5     Fatty Acid Transport Protein 43
ACSVL42 3     Solute Carrier Family 27 Member 43
IPS2 5     EC 6.2.18
Long-Chain Fatty Acid Transport Protein 42     EC 6.2.1.78
EC 6.2.1.-3     

External Ids:    HGNC: 109981   Entrez Gene: 109992   Ensembl: ENSG000001671147   OMIM: 6041945   UniProtKB: Q6P1M03   

Export aliases for SLC27A4 gene to outside databases

Previous GC identifers: GC09P122217 GC09P122749 GC09P124556 GC09P126478 GC09P128182 GC09P130142 GC09P100716


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC27A4 Gene:
This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of
long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of
mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes.
Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this
gene have been associated with ichthyosis prematurity syndrome. (provided by RefSeq, Apr 2010)

GeneCards Summary for SLC27A4 Gene:
SLC27A4 (solute carrier family 27 (fatty acid transporter), member 4) is a protein-coding gene. Diseases associated with SLC27A4 include diffuse cutaneous mastocytosis, and ichthyosis prematurity syndrome. GO annotations related to this gene include very long-chain fatty acid-CoA ligase activity and nucleotide binding. An important paralog of this gene is SLC27A5.

UniProtKB/Swiss-Prot: S27A4_HUMAN, Q6P1M0
Function: Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the
principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal
barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and
very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of
VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity)

Gene Wiki entry for SLC27A4 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC27A4 gene promoter:
         STAT1   AML1a   GCNF   p300   Olf-1   STAT1beta   STAT1alpha   C/EBPalpha   GCNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC27A4 promoter sequence
   Search Chromatin IP Primers for SLC27A4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC27A4


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

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.13

SLC27A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC27A4 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P131102:  view genomic region     (about GC identifiers)

Start:
131,102,839 bp from pter      End:
131,123,749 bp from pter
Size:
20,911 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: S27A4_HUMAN, Q6P1M0 (See protein sequence)
Recommended Name: Long-chain fatty acid transport protein 4  
Size: 643 amino acids; 72064 Da
Miscellaneous: SLC27A4/FATP4-mediated fatty acid uptake is associated to paramaters related to insulin resistance,
which is associated with disturbed fatty acid metabolism and homeostasis, such as obesity. SLC27A4/FATP4
expression is positively correlated with acquired obesity
Sequence caution: Sequence=AAD11623.1; Type=Frameshift; Positions=362, 387, 612, 619;
Secondary accessions: A8K2F7 O95186

Explore the universe of human proteins at neXtProt for SLC27A4: NX_Q6P1M0

Explore proteomics data for SLC27A4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SLC27A4 (Q6P1M0) (see all 21)
     GRYVPLD  RWKGENV  CIPCQPG  VHSRYYR 


    See SLC27A4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005085.2  
    ENSEMBL proteins: 
     ENSP00000361961   ENSP00000300456  
    Reactome Protein details: Q6P1M0

    SLC27A4 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for SLC27A4 (2 products) 

     
    antibodies-online peptides for SLC27A4

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Fatty acid transport protein 4
    SLC27 family of fatty acid transporters

    4 InterPro protein domains:
     IPR025110 AMP-bd_C
     IPR020845 AMP-binding_CS
     IPR022272 Lipocalin_CS
     IPR000873 AMP-dep_Synth/Lig

    Graphical View of Domain Structure for InterPro Entry Q6P1M0

    ProtoNet protein and cluster: Q6P1M0

    1 Blocks protein domain: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: S27A4_HUMAN, Q6P1M0
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    Find genes that share domains with SLC27A4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S27A4_HUMAN, Q6P1M0
    Function: Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the
    principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal
    barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and
    very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of
    VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity)

         Enzyme Numbers (IUBMB): EC 6.2.12 EC 6.2.1.72 EC 6.2.1.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003824catalytic activity ----
    GO:0004467long-chain fatty acid-CoA ligase activity IDA--
    GO:0015245fatty acid transporter activity TAS9878842
    GO:0031957very long-chain fatty acid-CoA ligase activity IEA--
         
    Find genes that share ontologies with SLC27A4           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Slc27a4):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  growth/size/body 
     homeostasis/metabolism  integument  mortality/aging  no phenotypic analysis  respiratory system 
     skeleton 

    Find genes that share phenotypes with SLC27A4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SLC27A4: Slc27a4tm1.1Wsr Slc27a4tm1Afst

       genOway: Develop your customized and physiologically relevant rodent model for SLC27A4

    miRNA
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    miRTarBase miRNAs that target SLC27A4:
    hsa-mir-16-5p (MIRT031405), hsa-mir-1 (MIRT023551), hsa-mir-23a-3p (MIRT050385)

    Block miRNA regulation of human, mouse, rat SLC27A4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC27A4 (see all 30):
    hsa-miR-328 hsa-miR-125a-5p hsa-miR-4328 hsa-miR-330-5p hsa-miR-513a-5p hsa-miR-449a hsa-miR-9 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidSLC27A4 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S27A4_HUMAN, Q6P1M0: Membrane; Multi-pass membrane protein (Probable). Endoplasmic reticulum membrane (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    cytosol1
    extracellular1
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane IDA--
    GO:0005886plasma membrane TAS--
    GO:0005902microvillus IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SLC27A4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC27A4 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transmembrane transport of small molecules0.47
    2Transport of vitamins, nucleosides, and related molecules
    Transport of vitamins, nucleosides, and related molecules
    Transport of fatty acids0.00
    3PPAR signaling pathway
    PPAR signaling pathway
    4Fat digestion and absorption
    Fat digestion and absorption


    Find genes that share SuperPaths with SLC27A4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SLC27A4
        Transport of fatty acids


    2 Kegg Pathways  (Kegg details for SLC27A4):
        PPAR signaling pathway
    Fat digestion and absorption

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC27A4: 
              Insulin Signaling Pathway in human mouse rat
              Fatty Acid Metabolism in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC27A4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SLC27A4 (Q6P1M03 ENSP000003004564) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BECN1Q144573, ENSP000003552314I2D: score=3 STRING: ENSP00000355231
    TMBIM4Q9HC243, ENSP000003509654I2D: score=2 STRING: ENSP00000350965
    LSSENSP000003487624STRING: ENSP00000348762
    UBCENSP000003448184STRING: ENSP00000344818
    MGLLENSP000002650524STRING: ENSP00000265052
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000038very long-chain fatty acid metabolic process ----
    GO:0001579medium-chain fatty acid transport IEA--
    GO:0001676long-chain fatty acid metabolic process IDA--
    GO:0006629lipid metabolic process TAS9878842
    GO:0006631fatty acid metabolic process ----

    Find genes that share ontologies with SLC27A4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC27A4 (S27A4)

    Selected HMDB Compounds for SLC27A4 (see all 40)    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--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    2 Novoseek inferred chemical compound relationships for SLC27A4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fatty acid 69.7 27 19631310 (2), 11404000 (2), 15827101 (2), 12697906 (2) (see all 12)
    lipid 32.1 2 19188502 (1)



    Find genes that share compounds with SLC27A4           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC27A4 gene: 
    NM_005094.3  

    Unigene Cluster for SLC27A4:

    Solute carrier family 27 (fatty acid transporter), member 4
    Hs.656699  [show with all ESTs]
    Unigene Representative Sequence: NM_005094
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372870(uc004buu.3) ENST00000300456(uc004but.3)
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    Additional mRNA sequence: 

    AF055899.1 AK000722.1 AK027504.1 AK074831.1 AK290222.1 BC004268.1 BC009959.2 BC065003.1 

    7 DOTS entries:

    DT.455993  DT.91925762  DT.100747358  DT.102840311  DT.92428311  DT.102834175  DT.121185429 

    Selected AceView cDNA sequences (see all 126):

    BX114133 BM838531 BQ052503 BC004268 BG740964 BM554654 CB150971 BC065003 
    BM795520 BM982407 CA454443 BI260635 AI659988 BG740922 BF934496 AA350218 
    BU162733 AL556374 BF971337 AI693456 BC009959 BM701112 BQ068324 BU155134 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC27A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAAGTTCC
    SLC27A4 Expression
    About this image


    SLC27A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SLC27A4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC27A4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656699

    UniProtKB/Swiss-Prot: S27A4_HUMAN, Q6P1M0
    Tissue specificity: Expressed at highest levels in brain, testis, colon and kidney. Expressed at medium levels in
    heart and liver, small intestine and stomach. Expressed at low levels in peripheral leukocytes, bone marrow,
    skeletal muscle and aorta. Expressed in adipose tissue

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC27A4: 
              Insulin Signaling Pathway in human mouse rat
              Fatty Acid Metabolism in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              PPAR Targets in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC27A4

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC27A4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc27a41 , 5 solute carrier family 27 (fatty acid transporter), more1, 5 87.61(n)1
    92.22(a)1
      2 (20.64 cM)5
    265691  NM_011989.41  NP_036119.11 
     298026345 
    chicken
    (Gallus gallus)
    Aves SLC27A41 solute carrier family 27 (fatty acid transporter), more 70.09(n)
    67.65(a)
      417220  XM_415504.4  XP_415504.4 
    lizard
    (Anolis carolinensis)
    Reptilia SLC27A46
    solute carrier family 27 (fatty acid transporter),...
    78(a)
    1 ↔ 1
    GL344072.1(69448-78985)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc27a41 solute carrier family 27 (fatty acid transporter), more 69.1(n)
    72.01(a)
      101735131  XM_004914188.1  XP_004914245.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc27a41 solute carrier family 27 (fatty acid transporter), more 67.91(n)
    69.98(a)
      550432  NM_001017737.1  NP_001017737.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fatp1 , 3 long-chain fatty acid transporter3
    Fatty acid (long chain) transport protein1
    45(a)
    (best of 3)3
    55.79(n)1
    48.36(a)1
      442271  NM_001169469.21  NP_001162940.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F28D1.93
    acs-201
    fatty acid transport protein3
    acs-201
    40(a)
    (best of 2)3
    48.48(n)1
    43.82(a)1
      IV(12392652-12396936)3
    1781901  NM_069966.61  NP_502367.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FAT16
    Very long chain fatty acyl-CoA synthetase and long...
    29(a)
    1 → many
    II(318266-320275) YBR041W


    ENSEMBL Gene Tree for SLC27A4 (if available)
    TreeFam Gene Tree for SLC27A4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC27A4 gene
    SLC27A52  SLC27A22  SLC27A12  SLC27A32  SLC27A62  
    6 SIMAP similar genes for SLC27A4 using alignment to 2 protein entries:     S27A4_HUMAN (see all proteins):
    FLJ00336    SLC27A1    SLC27A2    SLC27A6    SLC27A5    SLC27A3

    Find genes that share paralogs with SLC27A4           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for SLC27A4 (see all 632)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0631924
    Ichthyosis prematurity syndrome (IPS)4--see VAR_0631922 A T mis40--------
    VAR_0631944
    Ichthyosis prematurity syndrome (IPS)4--see VAR_0631942 Q R mis40--------
    VAR_0645004
    Ichthyosis prematurity syndrome (IPS)4--see VAR_0645002 R C mis40--------
    VAR_0631934
    Ichthyosis prematurity syndrome (IPS)4--see VAR_0631932 S P mis40--------
    VAR_0631954
    Ichthyosis prematurity syndrome (IPS)4--see VAR_0631952 R H mis40--------
    rs1378531311,2
    Cpathogenic1131120419(+) CACTGC/ACTCAC 2 /* /C stg11Minor allele frequency- A:0.00NA 4382
    rs1378531341,2
    Cpathogenic1131127581(+) CGGCCA/GGTGCC 2 Q R mis10--------
    rs780700341,2
    C--131100883(+) CTCGG-/A/AA  
            
    AAAAA
    1 -- us2k10--------
    rs1836332151,2
    --131113429(+) AGCCTA/GGGCGA 1 -- us2k10--------
    rs1881665261,2
    --131113453(+) CGTCTC/TGGAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC27A4 (131102839 - 131123749 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC27A4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660941CNV Deletion23128226
    esv2739070CNV Deletion23290073
    nsv415888CNV Insertion16902084
    nsv831728CNV Loss17160897
    dgv8294n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC27A4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC27A4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC27A4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604194   
    OMIM disorders: 608649  
    UniProtKB/Swiss-Prot: S27A4_HUMAN, Q6P1M0
  • Ichthyosis prematurity syndrome (IPS) [MIM:608649]: A keratinization disorder characterized by
    complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child
    with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery
    during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong
    non-scaly ichthyosis with atopic manifestations. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 7 diseases for SLC27A4:    
    About MalaCards
    diffuse cutaneous mastocytosis    ichthyosis prematurity syndrome    wrinkles    cutaneous mastocytosis
    autosomal recessive congenital ichthyosis    mastocytosis    insulin resistance


    Find genes that share disorders with SLC27A4           About GenesLikeMe

    Genetic Association Database (GAD): SLC27A4
    Human Genome Epidemiology (HuGE) Navigator: SLC27A4 (4 documents)

    Export disorders for SLC27A4 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

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    PubMed articles for SLC27A4 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with SLC27A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic and structural evaluation of fatty acid transport protein-4 in relation to markers of the insulin resistance syndrome. (PubMed id 14715877)1, 2, 4, 9 Gertow K.... Fisher R.M. (J. Clin. Endocrinol. Metab. 2004)
    2. Tissue distribution and cDNA cloning of a human fatty acid transport protein (hsFATP4). (PubMed id 9878842)1, 2, 3 Fitscher B.A.... Stremmel W. (Biochim. Biophys. Acta 1998)
    3. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. (PubMed id 19631310)1, 2, 9 Klar J.... Fischer J. (Am. J. Hum. Genet. 2009)
    4. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PubMed id 20416077)1, 4 Ban H.J....Park K.J. (BMC Genet. 2010)
    5. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    6. A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis. (PubMed id 20815031)1, 2 Morice-Picard F.... Fischer J. (Am. J. Med. Genet. A 2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Requirement of fatty acid transport protein 4 for development, maturation, and function of sebaceous glands in a mouse model of ichthyosis prematurity syndrome. (PubMed id 23271751)1 Lin M.H....Miner J.H. (J. Biol. Chem. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    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)
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    Entrez Gene: 10999 HGNC: 10998 AceView: SLC27A4 Ensembl:ENSG00000167114 euGenes: HUgn10999
    ECgene: SLC27A4 Kegg: 10999 H-InvDB: SLC27A4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC27A4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SLC27A4 gene:
    Search GeneIP for patents involving SLC27A4

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



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