This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum dis... See more...

Aliases for SLC27A3 Gene

Aliases for SLC27A3 Gene

  • Solute Carrier Family 27 Member 3 2 3 4 5
  • Solute Carrier Family 27 (Fatty Acid Transporter), Member 3 2 3
  • Very Long-Chain Acyl-CoA Synthetase Homolog 3 3 4
  • Long-Chain Fatty Acid Transport Protein 3 3 4
  • ACSVL3 3 4
  • VLCS-3 3 4
  • FATP3 3 4
  • Fatty Acid Transport Protein 3 4
  • EC 6.2.1.7 52
  • EC 6.2.1.- 4
  • EC 6.2.1 52
  • FATP-3 4

External Ids for SLC27A3 Gene

Previous GeneCards Identifiers for SLC27A3 Gene

  • GC01U990233
  • GC01P149478
  • GC01P150523
  • GC01P150964
  • GC01P150963
  • GC01P150559
  • GC01P152014
  • GC01P153746
  • GC01P125110

Summaries for SLC27A3 Gene

Entrez Gene Summary for SLC27A3 Gene

  • This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

GeneCards Summary for SLC27A3 Gene

SLC27A3 (Solute Carrier Family 27 Member 3) is a Protein Coding gene. Diseases associated with SLC27A3 include Autism and Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2. Among its related pathways are Fatty Acyl-CoA Biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include nucleotide binding and long-chain fatty acid-CoA ligase activity. An important paralog of this gene is SLC27A5.

UniProtKB/Swiss-Prot Summary for SLC27A3 Gene

  • Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids. Does not exhibit fatty acid transport activity (By similarity).

Gene Wiki entry for SLC27A3 Gene

Additional gene information for SLC27A3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC27A3 Gene

Genomics for SLC27A3 Gene

GeneHancer (GH) Regulatory Elements for SLC27A3 Gene

Promoters and enhancers for SLC27A3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC27A3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC27A3

Top Transcription factor binding sites by QIAGEN in the SLC27A3 gene promoter:
  • CREB
  • deltaCREB
  • HEN1
  • HNF-4alpha1
  • LCR-F1
  • MIF-1
  • MyoD
  • MZF-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for SLC27A3 Gene

Genomic Locations for SLC27A3 Gene
chr1:153,774,354-153,780,157
(GRCh38/hg38)
Size:
5,804 bases
Orientation:
Plus strand
chr1:153,746,830-153,752,633
(GRCh37/hg19)
Size:
5,804 bases
Orientation:
Plus strand

Genomic View for SLC27A3 Gene

Genes around SLC27A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC27A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC27A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC27A3 Gene

Proteins for SLC27A3 Gene

  • Protein details for SLC27A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5K4L6-S27A3_HUMAN
    Recommended name:
    Solute carrier family 27 member 3
    Protein Accession:
    Q5K4L6
    Secondary Accessions:
    • Q5VUQ7
    • Q5VUQ8
    • Q5VUR3
    • Q6ZV16
    • Q8N2X7
    • Q8TEJ0
    • Q96SW5
    • Q9BTJ5
    • Q9BTY5

    Protein attributes for SLC27A3 Gene

    Size:
    683 amino acids
    Molecular mass:
    73550 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH03041.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH09916.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH29792.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAQ88775.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55156.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB84960.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11578.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC86050.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC86050.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAE12159.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC27A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC27A3 Gene

Selected DME Specific Peptides for SLC27A3 Gene

Q5K4L6:
  • EGRAGMAA
  • TSGTTGLPKA
  • QYIGELCRYL
  • RWKGENV

Post-translational modifications for SLC27A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC27A3 Gene

Domains & Families for SLC27A3 Gene

Gene Families for SLC27A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC27A3 Gene

Blocks:
  • AMP-binding signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC27A3 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 27 (Fatty acid transporter), member 3 (Q5VUR4_HUMAN)
  • Very long-chain acyl-CoA synthetase homolog 3 (S27A3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5K4L6

UniProtKB/Swiss-Prot:

S27A3_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with SLC27A3: view

Function for SLC27A3 Gene

Molecular function for SLC27A3 Gene

UniProtKB/Swiss-Prot Function:
Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids. Does not exhibit fatty acid transport activity (By similarity).

Enzyme Numbers (IUBMB) for SLC27A3 Gene

Phenotypes From GWAS Catalog for SLC27A3 Gene

Gene Ontology (GO) - Molecular Function for SLC27A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004467 long-chain fatty acid-CoA ligase activity IBA,IEA 21873635
GO:0005324 long-chain fatty acid transporter activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with SLC27A3: view
genes like me logo Genes that share phenotypes with SLC27A3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC27A3

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC27A3 Gene

Localization for SLC27A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC27A3 Gene

Mitochondrion membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC27A3 gene
Compartment Confidence
mitochondrion 4
peroxisome 4
endoplasmic reticulum 4
plasma membrane 3
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC27A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005783 endoplasmic reticulum IDA --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with SLC27A3: view

Pathways & Interactions for SLC27A3 Gene

genes like me logo Genes that share pathways with SLC27A3: view

Gene Ontology (GO) - Biological Process for SLC27A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001676 long-chain fatty acid metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0015909 long-chain fatty acid transport IEA --
genes like me logo Genes that share ontologies with SLC27A3: view

No data available for SIGNOR curated interactions for SLC27A3 Gene

Drugs & Compounds for SLC27A3 Gene

(7) Drugs for SLC27A3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma Full agonist, Agonist 25
Stearic acid Approved, Experimental Pharma 0
arachidonic acid Experimental Pharma Activator, Inhibitor, Agonist, Activation, Potentiation 39
Hexanoyl-CoA Experimental Pharma 0
Myristic acid Experimental Pharma 0

(33) Additional Compounds for SLC27A3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with SLC27A3: view

Transcripts for SLC27A3 Gene

mRNA/cDNA for SLC27A3 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC27A3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC27A3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10
SP1: - - -
SP2: - - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7: -

Relevant External Links for SLC27A3 Gene

GeneLoc Exon Structure for
SLC27A3

Expression for SLC27A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC27A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC27A3 Gene

This gene is overexpressed in Fetal testis (9.8), Stomach (7.8), and Fetal ovary (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC27A3 Gene



Protein tissue co-expression partners for SLC27A3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC27A3

SOURCE GeneReport for Unigene cluster for SLC27A3 Gene:

Hs.438723

Evidence on tissue expression from TISSUES for SLC27A3 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Lung(4.3)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with SLC27A3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC27A3 Gene

Orthologs for SLC27A3 Gene

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

Orthologs for SLC27A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC27A3 31 30
  • 96.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC27A3 31 30
  • 86.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC27A3 31 30
  • 85.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc27a3 17 31 30
  • 83.77 (n)
rat
(Rattus norvegicus)
Mammalia Slc27a3 30
  • 83.62 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC27A3 31
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20896 30
zebrafish
(Danio rerio)
Actinopterygii SLC27A3 31
  • 44 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAT1 31
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for SLC27A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC27A3 Gene

ENSEMBL:
Gene Tree for SLC27A3 (if available)
TreeFam:
Gene Tree for SLC27A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC27A3: view image

Paralogs for SLC27A3 Gene

(6) SIMAP similar genes for SLC27A3 Gene using alignment to 4 proteins:

  • S27A3_HUMAN
  • H0YDM5_HUMAN
  • H0YDP0_HUMAN
  • H7BZH4_HUMAN
genes like me logo Genes that share paralogs with SLC27A3: view

Variants for SLC27A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC27A3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs140194614 Not Provided: not provided 153,776,188(+) C/T INTRON_VARIANT
rs142223071 Not Provided: not provided 153,778,554(+) G/A SPLICE_DONOR_VARIANT
rs143973304 Not Provided: not provided 153,776,494(+) C/T INTRON_VARIANT
rs146145258 Not Provided: not provided 153,778,572(+) G/A INTRON_VARIANT
rs146389904 Not Provided: not provided 153,779,488(+) C/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SLC27A3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC27A3 Gene

Variant ID Type Subtype PubMed ID
nsv515962 CNV loss 19592680
nsv547941 CNV loss 21841781

Variation tolerance for SLC27A3 Gene

Residual Variation Intolerance Score: 99.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.14; 61.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC27A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC27A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC27A3 Gene

Disorders for SLC27A3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC27A3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autism
  • autistic disorder
abdominal obesity-metabolic syndrome quantitative trait locus 2
  • aoms1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC27A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC27A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC27A3 Gene

Publications for SLC27A3 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54
  5. A family of fatty acid transporters conserved from mycobacterium to man. (PMID: 9671728) Hirsch D … Lodish HF (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 54

Products for SLC27A3 Gene

Sources for SLC27A3 Gene