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

SLC27A4 Gene

protein-coding   GIFtS: 57
GCID: GC09P131102

solute carrier family 27 (fatty acid transporter), member...
 Explore 12 diseases affiliated with
SLC27A4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC27A4    

Aliases
for SLC27A4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 27 (Fatty Acid Transporter), Member 41 2     FATP-43
FATP41 2 3 5     Fatty Acid Transport Protein 43
ACSVL41 2 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


Summaries
for SLC27A4 gene

(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 SLC27A4:
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)

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 (By similarity)

Gene Wiki entry for SLC27A4


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences 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 plasmid: SLC27A4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC27A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLC27A4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: S27A4_HUMAN, Q6P1M0 (See protein sequence)
Recommended Name: Long-chain fatty acid transport protein 4  
Size: 643 amino acids; 72064 Da
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6P1M0

    • 4/21 DME Specific Peptides for SLC27A4 (Q6P1M0) (see all 21)
     GRYVPLD  RWKGENV  CIPCQPG  VHSRYYR 

    SLC27A4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005085.2  
    ENSEMBL proteins: 
     ENSP00000361961   ENSP00000300456  
    Reactome Protein details: Q6P1M0
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    Uscn Proteins for SLC27A4

    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 ----
    GO:0005789endoplasmic reticulum membrane IDA--
    GO:0005886plasma membrane TAS--
    GO:0005902microvillus IEA--
    GO:0016021integral to membrane IEA--


    SLC27A4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC27A4

    Protein Domains /
    Families
    for SLC27A4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC27A4 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR022272 Lipocalin_CS
     IPR000873 AMP-dep_Synth/Lig
     IPR020845 AMP-binding_CS

    Graphical View of Domain Structure for InterPro Entry Q6P1M0

    ProtoNet protein and cluster: Q6P1M0

    1 Blocks protein family: IPB000873 AMP-binding signature

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


    Function
    for SLC27A4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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 (By similarity)

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

    miRNA
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    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 plasmid: SLC27A4 3' UTR sequence
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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--


    SLC27A4 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SLC27A4: Slc27a4tm1.1Wsr Slc27a4tm1Afst
         10 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Slc27a4):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size  homeostasis/metabolism 
     integument  mortality/aging  no phenotypic analysis  respiratory system  skeleton 

    SLC27A4 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC27A4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transmembrane transport of small molecules0.50
    2PPAR signaling pathway
    		PPAR signaling pathway1.00
    3Transport of organic anions
    		Transport of vitamins, nucleosides, and related molecules0.35
    4Expression of FATP1 (SLC27A1)
    		Transport of fatty acids0.33
    5alpha-Linolenic acid metabolism
    		Fat digestion and absorption0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for SLC27A4
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of vitamins, nucleosides, and related molecules
    Transport of fatty acids


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


    SLC27A4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC27A4

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for SLC27A4 (Q6P1M03 ENSP000003004564) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BECN1Q144573, ENSP000003552314I2D: score=3 STRING: ENSP00000355231
    TMBIM4Q9HC243, ENSP000003509654I2D: score=2 STRING: ENSP00000350965
    UBCENSP000003448184STRING: ENSP00000344818
    EPS8ENSP000002811724STRING: ENSP00000281172
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    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 ----


    SLC27A4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC27A4 gene

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

    SLC27A4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC27A4

    10/40 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 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)

    Search CenterWatch for drugs/clinical trials and news about SLC27A4 / S27A4 

    Transcripts
    for SLC27A4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    Inhib. RNA
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    Primer
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    Additional cDNA 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 

    24/126 AceView cDNA sequences (see all 126):

    BU150075 BF971337 BC004268 NM_005094 BM838531 BG740922 BF934496 BI260635 
    AI693456 AI659988 BC009959 CB150971 BM982407 AA364092 BG740964 BQ052503 
    BQ068324 BM701112 BC065003 BU155134 CA454443 BM795520 AA350218 BM554654 

    GeneLoc Exon Structure


    Expression
    for SLC27A4 gene

    (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

    SLC27A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCAAGTTCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See SLC27A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC27A4

    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

        SABiosciences Expression via Pathway-Focused 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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    Orthologs
    for SLC27A4 gene

    (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 animals and fungi.

    Orthologs for SLC27A4 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC27A41 solute carrier family 27 (fatty acid transporter), more 70.09(n)
    67.65(a)    		   417220  XM_415504.3  XP_415504.3 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC27A46
    		 --
    		 78(a)
    		 1 ↔ 1
    		 GL344072.1(70723-78752)
    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_001169469.11  NP_001162940.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea F28D1.93
    acs-201    		 fatty acid transport protein3
    Protein ACS-201    		 40(a)
    (best of 2)3
    47.93(n)1
    42.99(a)1    		   IV(12392652-12396936)3
    1781901  NM_069966.51  NP_502367.21 
    A. gossypii yeast
    (Ashbya gossypii)    		 Saccharomycetes AGOS_ACL174W1 ACL174Wp 47.55(n)
    35.75(a)    		   4619350  NM_208583.1  NP_983230.1 


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

    Paralogs
    for SLC27A4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    SLC27A4 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC27A4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/396 NCBI SNPs in SLC27A4 are shown (see all 396)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378531311,2
    		Cpathogenic100720600(+) CACTGC/ACTCAC 2 /* /C stg11Minor allele frequency- A:0.00NA 4382
    rs757041941,2
    		--100713765(+) ATTAAT/CTAGTA 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs783508861,2
    		C,--100713815(+) CCTTTC/TAGCTG 1 -- us2k13Minor allele frequency- T:0.04NA EA 242
    rs736724981,2
    		C,--100714873(+) ATGACA/CAATAA 1 -- us2k12Minor allele frequency- C:0.03WA 120
    rs788677041,2
    		F,--100719272(+) GCCTTA/CGTGGT 1 -- int11Minor allele frequency- C:0.09WA 118
    rs1112932641,2
    		F,--100720185(+) CAGCAG/ACCTGG 1 -- int12Minor allele frequency- A:0.50CSA 6
    rs1127779891,2
    		--100721855(+) AATCCG/CAGCAC 1 -- int11Minor allele frequency- C:0.50CSA 2
    rs603589541,2
    		--100722035(+) CCCAGC/GAGACA 1 -- int10--------
    rs746588631,2
    		F,--100722417(+) CACCCA/CAGATC 1 -- int11Minor allele frequency- C:0.04NA 120
    rs70414081,2
    		C,F,--100722529(+) GAAGTC/TATTAG 1 -- int17Minor allele frequency- T:0.32NA WA CSA 248

    HapMap Linkage Disequilibrium report for SLC27A4 (131102839 - 131123749 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC27A4: --
    Human Gene Mutation Database (HGMD): SLC27A4

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    Disorders / Diseases
    for SLC27A4 gene

    (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
    SLC27A4 for disorders           About GeneDecksing

    OMIM gene information: 604194   
    OMIM disorders: 608649  
    UniProtKB/Swiss-Prot: S27A4_HUMAN, Q6P1M0
  • Defects in SLC27A4 are the cause of 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

    12 diseases for SLC27A4:    About MalaCards
    ichthyosis prematurity syndrome    insulin resistance    ichthyosis    cutaneous mastocytosis
    diffuse cutaneous mastocytosis    mastocytosis    prostate cancer    obesity
    prostatitis    tuberculosis    neuronitis    mycobacterium tuberculosis

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

    Export disorders for SLC27A4 gene to outside databases

    Publications
    for SLC27A4 gene

    (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 SLC27A4 gene, integrated from 9 sources (see all 37):
    (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. (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. (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. (2009)
    4. 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. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    7. 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. (2004)
    8. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    9. Enhanced fatty acid oxidation and FATP4 protein expres sion after endurance exercise training in human skeletal muscle. (PubMed id 22235293)1 Jeppesen J....Kiens B. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for SLC27A4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing SLC27A4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10999 HGNC: 10998 AceView: SLC27A4 Ensembl:ENSG00000167114 euGenes: HUgn10999
    ECgene: SLC27A4 Kegg: 10999 H-InvDB: SLC27A4

    Other Databases showing SLC27A4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC27A4 gene

    (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 SLC27A4 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC27A4 gene

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