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    SLC27A6 solute carrier family 27 member 6 [ Homo sapiens (human) ]

    Gene ID: 28965, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC27A6provided by HGNC
    Official Full Name
    solute carrier family 27 member 6provided by HGNC
    Primary source
    HGNC:HGNC:11000
    See related
    Ensembl:ENSG00000113396 MIM:604196; AllianceGenome:HGNC:11000
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FATP6; ACSVL2; FACVL2; VLCS-H1
    Summary
    This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in adrenal (RPKM 12.7), heart (RPKM 7.8) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC27A6 in Genome Data Viewer
    Location:
    5q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (128965488..129033635)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (129484343..129552406)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (128301181..128369328)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379167 Neighboring gene uncharacterized LOC105379168 Neighboring gene NANOG hESC enhancer GRCh37_chr5:128006634-128007158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16297 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:128205611-128206165 Neighboring gene MPRA-validated peak5459 silencer Neighboring gene uncharacterized LOC102723638 Neighboring gene uncharacterized LOC124901060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16298 Neighboring gene isochorismatase domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. New Insight on Solute Carrier Family 27 Member 6 (SLC27A6) in Tumoral and Non-Tumoral Breast Cells. Yen MC, et al. Int J Med Sci, 2019. PMID 30911270, Free PMC Article
    2. A variant in the heart-specific fatty acid transport protein 6 is associated with lower fasting and postprandial TAG, blood pressure and left ventricular hypertrophy. Auinger A, et al. Br J Nutr, 2012 May. PMID 21920065
    3. Characterization of a heart-specific fatty acid transport protein. Gimeno RE, et al. J Biol Chem, 2003 May 2. PMID 12556534
    4. Solute Carrier Family 27 Member 6 (SLC27A6) Possibly Promotes the Proliferation of Papillary Thyroid Cancer by Regulating c-MYC. Liu C, et al. Biochem Genet, 2022 Dec. PMID 35348939
    5. Human very long-chain acyl-CoA synthetase and two human homologs: initial characterization and relationship to fatty acid transport protein. Watkins PA, et al. Prostaglandins Leukot Essent Fatty Acids, 1999 May-Jun. PMID 10471116

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Solute Carrier Family 27 Member 6 (SLC27A6) Possibly Promotes the Proliferation of Papillary Thyroid Cancer by Regulating c-MYC.
      Title: Solute Carrier Family 27 Member 6 (SLC27A6) Possibly Promotes the Proliferation of Papillary Thyroid Cancer by Regulating c-MYC.
    2. Inverse correlation between SLC27A6 expression and breast tumoral tissues.SLC27A6role in the cell growth and cell cycle regulation in non-tumorigenic breast cells.
      Title: New Insight on Solute Carrier Family 27 Member 6 (SLC27A6) in Tumoral and Non-Tumoral Breast Cells.
    3. The FATP6-7T>A polymorphism may protect from traits of the metabolic syndrome and CVD.
      Title: A variant in the heart-specific fatty acid transport protein 6 is associated with lower fasting and postprandial TAG, blood pressure and left ventricular hypertrophy.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variability of the fatty acid synthase pathway is not associated with prostate cancer risk in the European Prospective Investigation on Cancer (EPIC).
    5. FATP6 is involved in heart LCFA uptake, in which it may play a role in the pathogenesis of lipid-related cardiac disorders.
      Title: Characterization of a heart-specific fatty acid transport protein.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp779M0564

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arachidonate-CoA ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables fatty acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables long-chain fatty acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables long-chain fatty acid-CoA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oleate transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables very long-chain fatty acid-CoA ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in long-chain fatty acid import into cell IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in long-chain fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in long-chain fatty acid transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in very long-chain fatty acid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    long-chain fatty acid transport protein 6
    Names
    acyl-CoA synthetase very long chain family, member 2
    arachidonate--CoA ligase
    fatty-acid-Coenzyme A ligase, very long-chain 2
    long-chain-fatty-acid--CoA ligase
    solute carrier family 27 (fatty acid transporter), member 6
    very long-chain acyl-CoA synthetase homolog 1
    NP_001017372.1
    NP_001304913.1
    NP_054750.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001017372.3 → NP_001017372.1  long-chain fatty acid transport protein 6

      See identical proteins and their annotated locations for NP_001017372.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional segment in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AA614135, AC004636, AF064254, AL833117, BX537383
      Consensus CDS
      CCDS4145.1
      UniProtKB/Swiss-Prot
      Q6IAM5, Q7Z6E6, Q86YF6, Q9Y2P4
      UniProtKB/TrEMBL
      B2R8P6
      Related
      ENSP00000262462.4, ENST00000262462.9
      Conserved Domains (2) summary
      cd05938
      Location:77 → 609
      hsFATP2a_ACSVL_like; Fatty acid transport proteins (FATP) including hsFATP2, hsFATP5, and hsFATP6, and similar proteins
      PRK08279
      Location:16 → 619
      PRK08279; long-chain-acyl-CoA synthetase; Validated

    2. NM_001317984.2 → NP_001304913.1  long-chain fatty acid transport protein 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AA614135, AC004636, AF064254, AK313456, BX537383
      Consensus CDS
      CCDS4145.1
      UniProtKB/Swiss-Prot
      Q6IAM5, Q7Z6E6, Q86YF6, Q9Y2P4
      UniProtKB/TrEMBL
      B2R8P6
      Related
      ENSP00000421024.1, ENST00000506176.1
      Conserved Domains (2) summary
      cd05938
      Location:77 → 609
      hsFATP2a_ACSVL_like; Fatty acid transport proteins (FATP) including hsFATP2, hsFATP5, and hsFATP6, and similar proteins
      PRK08279
      Location:16 → 619
      PRK08279; long-chain-acyl-CoA synthetase; Validated

    3. NM_014031.5 → NP_054750.1  long-chain fatty acid transport protein 6

      See identical proteins and their annotated locations for NP_054750.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the same protein as variants 2 and 3.
      Source sequence(s)
      AA614135, AC004636, AF064254, BX537383
      Consensus CDS
      CCDS4145.1
      UniProtKB/Swiss-Prot
      Q6IAM5, Q7Z6E6, Q86YF6, Q9Y2P4
      UniProtKB/TrEMBL
      B2R8P6
      Related
      ENSP00000378684.1, ENST00000395266.5
      Conserved Domains (2) summary
      cd05938
      Location:77 → 609
      hsFATP2a_ACSVL_like; Fatty acid transport proteins (FATP) including hsFATP2, hsFATP5, and hsFATP6, and similar proteins
      PRK08279
      Location:16 → 619
      PRK08279; long-chain-acyl-CoA synthetase; Validated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      128965488..129033635
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      129484343..129552406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2P4.1 GenPept UniProtKB/Swiss-Prot:Q9Y2P4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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